TY  - JOUR
AU  - Maksić, Jasmina
AU  - Maksimović, Nela
AU  - Rasulić, Lukas
AU  - Milankov, Olgica
AU  - Marjanović, Ana
AU  - Cvetković, Dragana
AU  - Rakočević Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5288
AB  - Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked reces-sive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimat-ed that 2/3 of mothers of Duchenne MD probands are car-riers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Du-chenne MD/Becker MD probands with dele-tion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were in-cluded. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., dele-tion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 de-letions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, muta-tions were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with dele-tions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with dupli-cations (75%) compared to mothers of probands with dele-tions (56%).
AB  - Uvod/Cilj. Dišenova mišićna distrofija (MD) i Bekerova MD su uzrokovane mutacijama u genu za distrofin (DMD). To su recesivne bolesti vezane za X hromozom, od kojih obolevaju muškarci, a žene su uglavnom zdravi nosioci mu-tacije. Procenjeno je da su kod probanada obolelih od Dišenove MD 2/3 majki nosioci mutacije, dok 1/3 pro-banada ima de novo mutaciju. Cilj rada bio je da se potvrdi status nosioca mutacije kod ženskih članova porodica pro-banada obolelih od Dišenove MD/Bekerove MD primenom metoda direktnog genetičkog testiranja. Metode. Studija je obuhvatila ukupno 38 žena iz 31 porodice pro-banada obolelih od Dišenove MD/Bekerove MD sa deleci-jom/duplikacijom u DMD genu. Takođe, u studiju su bila uključena i 4 slučaja Dišenove MD/Bekerove MD otkrivena prenatalnom dijagnostikom. Metoda lančane reakcije poli-meraze (polymerase chain reaction – PCR) i metoda višestrukog umnožavanja vezanih proba (multiplex ligation-dependent probe amplification -MLPA) su korišćene za detekciju delecija, od-nosno delecija/duplikacija mutacija u DMD genu. Rezulta-ti. Kod ukupno 31 probanada obolelih od Dišenove MD/Bekerove MD, utvrđeno je 87,1% mutacija tipa deleci-je i 12,9% mutacija tipa duplikacija jednog ili više egzona u DMD genu. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija i 3 duplikacije). Mutacije su detektovane kod 11 (57,9%) od 19 majki probanada sa feno-tipom Dišenove MD i kod 6 (60%) od 10 majki probanada obolelih od Bekerove MD. Takođe, kod probanada sa de-lecijom, kod 14 (56%) od 25 majki je potvrđeno da su nosioci mutacije, a kod probanada sa duplikacijom, 3 (75%) od 4 majke su bile nosioci mutacije. Od ostalih 9 ženskih srodnika probanada obolelih od Dišenove MD/Bekerove MD, mutacije su nađene kod nijh 4. Prenatalnom dijagnos tikom utvrđene su delecije kod jednog muškog i jednog ženskog fetusa iste majke koja je bila potvrđena kao nosilac mutacije. Zaključak. Istraživanje je pokazalo da su majke bile nosioci mutacija u skoro 60% izolovanih slučajeva ob-olelih od Dišenove MD/Bekerove MD sa delecijama i duplikacijama. Takođe, učestalost majki nosioca mutacije kod probanada sa duplikaciom (75%) se pokazala višom ne-go kod majki probanada sa delecijom (56%).
PB  - Vojnomedicinska akademija
T2  - Vojnosanitetski pregled
T1  - The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies
T1  - Značaj direktnog genetičkog testiranja za otkrivanje žena prenosioca mutacije kod distrofinopatija
EP  - 207
IS  - 3
SP  - 201
VL  - 80
DO  - 10.2298/VSP190208030M
ER  - 

@article{
author = "Maksić, Jasmina and Maksimović, Nela and Rasulić, Lukas and Milankov, Olgica and Marjanović, Ana and Cvetković, Dragana and Rakočević Stojanović, Vidosava and Novaković, Ivana",
year = "2023",
abstract = "Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked reces-sive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimat-ed that 2/3 of mothers of Duchenne MD probands are car-riers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Du-chenne MD/Becker MD probands with dele-tion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were in-cluded. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., dele-tion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 de-letions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, muta-tions were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with dele-tions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with dupli-cations (75%) compared to mothers of probands with dele-tions (56%)., Uvod/Cilj. Dišenova mišićna distrofija (MD) i Bekerova MD su uzrokovane mutacijama u genu za distrofin (DMD). To su recesivne bolesti vezane za X hromozom, od kojih obolevaju muškarci, a žene su uglavnom zdravi nosioci mu-tacije. Procenjeno je da su kod probanada obolelih od Dišenove MD 2/3 majki nosioci mutacije, dok 1/3 pro-banada ima de novo mutaciju. Cilj rada bio je da se potvrdi status nosioca mutacije kod ženskih članova porodica pro-banada obolelih od Dišenove MD/Bekerove MD primenom metoda direktnog genetičkog testiranja. Metode. Studija je obuhvatila ukupno 38 žena iz 31 porodice pro-banada obolelih od Dišenove MD/Bekerove MD sa deleci-jom/duplikacijom u DMD genu. Takođe, u studiju su bila uključena i 4 slučaja Dišenove MD/Bekerove MD otkrivena prenatalnom dijagnostikom. Metoda lančane reakcije poli-meraze (polymerase chain reaction – PCR) i metoda višestrukog umnožavanja vezanih proba (multiplex ligation-dependent probe amplification -MLPA) su korišćene za detekciju delecija, od-nosno delecija/duplikacija mutacija u DMD genu. Rezulta-ti. Kod ukupno 31 probanada obolelih od Dišenove MD/Bekerove MD, utvrđeno je 87,1% mutacija tipa deleci-je i 12,9% mutacija tipa duplikacija jednog ili više egzona u DMD genu. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija i 3 duplikacije). Mutacije su detektovane kod 11 (57,9%) od 19 majki probanada sa feno-tipom Dišenove MD i kod 6 (60%) od 10 majki probanada obolelih od Bekerove MD. Takođe, kod probanada sa de-lecijom, kod 14 (56%) od 25 majki je potvrđeno da su nosioci mutacije, a kod probanada sa duplikacijom, 3 (75%) od 4 majke su bile nosioci mutacije. Od ostalih 9 ženskih srodnika probanada obolelih od Dišenove MD/Bekerove MD, mutacije su nađene kod nijh 4. Prenatalnom dijagnos tikom utvrđene su delecije kod jednog muškog i jednog ženskog fetusa iste majke koja je bila potvrđena kao nosilac mutacije. Zaključak. Istraživanje je pokazalo da su majke bile nosioci mutacija u skoro 60% izolovanih slučajeva ob-olelih od Dišenove MD/Bekerove MD sa delecijama i duplikacijama. Takođe, učestalost majki nosioca mutacije kod probanada sa duplikaciom (75%) se pokazala višom ne-go kod majki probanada sa delecijom (56%).",
publisher = "Vojnomedicinska akademija",
journal = "Vojnosanitetski pregled",
title = "The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies, Značaj direktnog genetičkog testiranja za otkrivanje žena prenosioca mutacije kod distrofinopatija",
pages = "207-201",
number = "3",
volume = "80",
doi = "10.2298/VSP190208030M"
}

Maksić, J., Maksimović, N., Rasulić, L., Milankov, O., Marjanović, A., Cvetković, D., Rakočević Stojanović, V.,& Novaković, I.. (2023). The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija., 80(3), 201-207.
https://doi.org/10.2298/VSP190208030M

Maksić J, Maksimović N, Rasulić L, Milankov O, Marjanović A, Cvetković D, Rakočević Stojanović V, Novaković I. The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies. in Vojnosanitetski pregled. 2023;80(3):201-207.
doi:10.2298/VSP190208030M .

Maksić, Jasmina, Maksimović, Nela, Rasulić, Lukas, Milankov, Olgica, Marjanović, Ana, Cvetković, Dragana, Rakočević Stojanović, Vidosava, Novaković, Ivana, "The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies" in Vojnosanitetski pregled, 80, no. 3 (2023):201-207,
https://doi.org/10.2298/VSP190208030M . .

TY  - CONF
AU  - Maksić, Jasmina
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5325
AB  - Introduction: The development of new methods of molecular genetics,
especially in the last two decades, has led to enormous progress in
the field of medicine and enabled more comprehensive prenatal and
postnatal diagnosis of hereditary diseases and other disorders, as well as
preimplantation testing.
Aim: The aim of the work is to present modern methods of molecular
genetics and their application in the diagnosis of hereditary diseases and
developmental disorders.
Methods: Having reviewed the relevant literature, insight was gained into
the current development of molecular genetic methods and their practical
application.
Results: Chromosome microarray is an analysis of all chromosomes in the
genome, which, thanks to microchip technology, enables the detection of
chromosomal microdeletions and microduplications, as well as changes in
the number of copies, in just one reaction. This method has found application
in all areas of clinical genetics, and especially in the detection of genomic
changes in patients with intellectual disabilities, developmental delays, autism
spectrum disorders and congenital anomalies. The gene microarray is also
based on microchip technology, and depending on the type of DNA chip used,
it is used to detect mutations and DNA variations at the level of the entire
genome or to study gene expression. The rapid development of biotechnology
and bioinformatics has enabled the simultaneous analysis of a large number
of genes through parallel (deep) sequencing, known as a new generation
of DNA sequencing methods. This technology detects already known gene
variants, new ones, as well as the presence of a predisposition. Today, in
clinical practice, differently designed gene panels are used for postnatal
diagnosis of monogenic and multifactorial diseases. Particularly noteworthy
are the “clinical exome” panels with over 6,000 genes, the whole exome
(about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement
of molecular genetics methods for quick and more accurate diagnosis
of hereditary diseases and developmental disorders, which gives a new
perspective on the possibilities of prenatal, postnatal and preimplantation
genetic testing.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine
T1  - Application of modern methods of molecular genetics In practice
EP  - 61
SP  - 53
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_5325
ER  - 

@conference{
author = "Maksić, Jasmina",
year = "2023",
abstract = "Introduction: The development of new methods of molecular genetics,
especially in the last two decades, has led to enormous progress in
the field of medicine and enabled more comprehensive prenatal and
postnatal diagnosis of hereditary diseases and other disorders, as well as
preimplantation testing.
Aim: The aim of the work is to present modern methods of molecular
genetics and their application in the diagnosis of hereditary diseases and
developmental disorders.
Methods: Having reviewed the relevant literature, insight was gained into
the current development of molecular genetic methods and their practical
application.
Results: Chromosome microarray is an analysis of all chromosomes in the
genome, which, thanks to microchip technology, enables the detection of
chromosomal microdeletions and microduplications, as well as changes in
the number of copies, in just one reaction. This method has found application
in all areas of clinical genetics, and especially in the detection of genomic
changes in patients with intellectual disabilities, developmental delays, autism
spectrum disorders and congenital anomalies. The gene microarray is also
based on microchip technology, and depending on the type of DNA chip used,
it is used to detect mutations and DNA variations at the level of the entire
genome or to study gene expression. The rapid development of biotechnology
and bioinformatics has enabled the simultaneous analysis of a large number
of genes through parallel (deep) sequencing, known as a new generation
of DNA sequencing methods. This technology detects already known gene
variants, new ones, as well as the presence of a predisposition. Today, in
clinical practice, differently designed gene panels are used for postnatal
diagnosis of monogenic and multifactorial diseases. Particularly noteworthy
are the “clinical exome” panels with over 6,000 genes, the whole exome
(about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement
of molecular genetics methods for quick and more accurate diagnosis
of hereditary diseases and developmental disorders, which gives a new
perspective on the possibilities of prenatal, postnatal and preimplantation
genetic testing.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine",
title = "Application of modern methods of molecular genetics In practice",
pages = "61-53",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_5325"
}

Maksić, J.. (2023). Application of modern methods of molecular genetics In practice. in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 53-61.
https://hdl.handle.net/21.15107/rcub_rfasper_5325

Maksić J. Application of modern methods of molecular genetics In practice. in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine. 2023;:53-61.
https://hdl.handle.net/21.15107/rcub_rfasper_5325 .

Maksić, Jasmina, "Application of modern methods of molecular genetics In practice" in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine (2023):53-61,
https://hdl.handle.net/21.15107/rcub_rfasper_5325 .

TY  - JOUR
AU  - Maksić, Jasmina
AU  - Maksimović, Nela
AU  - Rasulić, Lukas
AU  - Milankov, Olgica
AU  - Marjanović, Ana
AU  - Cvetković, Dragana
AU  - Rakočević, Vidosava
AU  - Rakočević  Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4756
AB  - Duchenne muscular dystrophy (DMD) and Becker muscular
dystrophy (BMD) are caused by mutations in the dystrophin gene. They are X-linked
recessive diseases, where males are affected and females are mostly healthy carriers of the
mutation. It is estimated that 2/3 mothers of DMD probands are carriers, while 1/3 of
patients have de novo mutations. The aim was to confirm the carrier status of females in the
families of DMD/BMD probands, using direct genetic methods. Methods. We tested 38
females from 31 families of DMD/BMD probands with deletion/duplication in the
dystrophin gene. Also, 4 cases of prenatal diagnosis of DMD/BMD were included. We
preformed the polymerase chain reaction (PCR) and the multiplex ligation-dependent
method (MLPA) for deletion detection, i.e. deletion/duplication in the dystrophin gene.
Results. In 31 DMD/BMD probands, we identified 87.1% deletions and 12.9%
duplications of one or more exons. Of the 29 tested mothers, mutations were found in 17
(14 deletions and 3 duplications). Mutations were found in 57.9% (11/19) mothers of DMD
and in 60% (6/10) mothers of BMD, respectively. Also, in probands with deletions 56%
(14/25) of mothers were carries and in probands with duplications 3 mothers of 4 (75%).
Of the 9 other female relatives, mutations were found in 4. In prenatal diagnosis, we
identified deletion in one male and one female foetus of one mother. Conclusion. The
study showed that mothers were carriers in almost 60% of sporadic cases of DMD/BMD
with deletions and duplication. Also, the carrier frequency tended to be higher in mothers
of the probands with duplication (75%) then in probands with deletions (56%). In the case
of a mother who was confirmed as a carrier, deletion was detected in 2 of 3 foetuses.
AB  - Dišenova mišićna distrofija (DMD) i Bekerova mišićna distrofija (BMD) su
uzrokovane mutacijama u genu za distrofin. To su X-vezane recesivne bolesti, gde
oboljevaju muškarci a žene su uglavnom zdravi prenosioci mutacije. Procenjeno je da su
kod DMD probanada 2/3 majki nosioci, dok 1/3 pacijenata ima novu mutaciju. Cilj rada je
bio da se utvrdi status prenosioca kod žena u porodicama obolelih od DMD/BMD,
primenom direktne genetičke metode. Metode. Testirali smo 38 žena iz 31 porodice
DMD/BMD probanada sa delecijama i duplikacijama u genu za distrofin. Takođe, u studiju
su bila uključena i 4 slučaja prenatalne DMD/BMD dijagnoze. Primenjene su metoda
lančane reakcije polimerizacije (PCR) i metoda višestrukog umnožavanja vezanih proba
(MLPA) za detekciju delecija, odnosno delecija i duplikacija u genu za distrofin. Rezultati.
Kod 31-og DMD/BMD probanda utvrđeno je 87,1% delecija i 12,9% duplikacija jednog ili
više egzona. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija
i 3 duplikacije). Mutacije su nađene kod 57,9% (11/19) majki probanada sa DMD
fenotipom i kod 60% majki probanada sa BMD. Takođe, kod probanada sa delecijom 56%
(14/25) majki su potvrđene kao nosioci, a kod probanada sa duplikacijom 3 od 4 majke
(75%). Od preostalih 9 ženskih srodnika, mutacije su nađene kod nijh 4. Prenatalnom
dijagnostikom utvrđene su delecije kod jednog muškog i jednog ženskog ploda iste majke.
Zaključak. Istraživanje je pokazalo da su majke bile nosioci u skoro 60% izolovanih
DMD/BMD slučajeva sa delecijama i duplikacijama. Takođe, učestalost majki nosioca kod
probanada sa duplikaciom (75%) se pokazala većom nego kod majki probanada sa
delecijom (56%). U slučaju majke koja je bila potvrđena kao nosilac, delecija je otkrivena
kod njena 2 ploda od 3 ispitana.
PB  - Vojnomedicinska akademija
T2  - Vojnosanitetski pregled
T1  - The importance of direct genetic testing to determine female carriers in dystrophinopathies
T1  - Značaj direktnog genetičkog testiranja za utvrđivanje žena prenosioca kod distrofinopatija
EP  - 207
IS  - 3
SP  - 201
VL  - 80
DO  - 10.2298/VSP190208030SM
ER  - 

@article{
author = "Maksić, Jasmina and Maksimović, Nela and Rasulić, Lukas and Milankov, Olgica and Marjanović, Ana and Cvetković, Dragana and Rakočević, Vidosava and Rakočević  Stojanović, Vidosava and Novaković, Ivana",
year = "2023",
abstract = "Duchenne muscular dystrophy (DMD) and Becker muscular
dystrophy (BMD) are caused by mutations in the dystrophin gene. They are X-linked
recessive diseases, where males are affected and females are mostly healthy carriers of the
mutation. It is estimated that 2/3 mothers of DMD probands are carriers, while 1/3 of
patients have de novo mutations. The aim was to confirm the carrier status of females in the
families of DMD/BMD probands, using direct genetic methods. Methods. We tested 38
females from 31 families of DMD/BMD probands with deletion/duplication in the
dystrophin gene. Also, 4 cases of prenatal diagnosis of DMD/BMD were included. We
preformed the polymerase chain reaction (PCR) and the multiplex ligation-dependent
method (MLPA) for deletion detection, i.e. deletion/duplication in the dystrophin gene.
Results. In 31 DMD/BMD probands, we identified 87.1% deletions and 12.9%
duplications of one or more exons. Of the 29 tested mothers, mutations were found in 17
(14 deletions and 3 duplications). Mutations were found in 57.9% (11/19) mothers of DMD
and in 60% (6/10) mothers of BMD, respectively. Also, in probands with deletions 56%
(14/25) of mothers were carries and in probands with duplications 3 mothers of 4 (75%).
Of the 9 other female relatives, mutations were found in 4. In prenatal diagnosis, we
identified deletion in one male and one female foetus of one mother. Conclusion. The
study showed that mothers were carriers in almost 60% of sporadic cases of DMD/BMD
with deletions and duplication. Also, the carrier frequency tended to be higher in mothers
of the probands with duplication (75%) then in probands with deletions (56%). In the case
of a mother who was confirmed as a carrier, deletion was detected in 2 of 3 foetuses., Dišenova mišićna distrofija (DMD) i Bekerova mišićna distrofija (BMD) su
uzrokovane mutacijama u genu za distrofin. To su X-vezane recesivne bolesti, gde
oboljevaju muškarci a žene su uglavnom zdravi prenosioci mutacije. Procenjeno je da su
kod DMD probanada 2/3 majki nosioci, dok 1/3 pacijenata ima novu mutaciju. Cilj rada je
bio da se utvrdi status prenosioca kod žena u porodicama obolelih od DMD/BMD,
primenom direktne genetičke metode. Metode. Testirali smo 38 žena iz 31 porodice
DMD/BMD probanada sa delecijama i duplikacijama u genu za distrofin. Takođe, u studiju
su bila uključena i 4 slučaja prenatalne DMD/BMD dijagnoze. Primenjene su metoda
lančane reakcije polimerizacije (PCR) i metoda višestrukog umnožavanja vezanih proba
(MLPA) za detekciju delecija, odnosno delecija i duplikacija u genu za distrofin. Rezultati.
Kod 31-og DMD/BMD probanda utvrđeno je 87,1% delecija i 12,9% duplikacija jednog ili
više egzona. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija
i 3 duplikacije). Mutacije su nađene kod 57,9% (11/19) majki probanada sa DMD
fenotipom i kod 60% majki probanada sa BMD. Takođe, kod probanada sa delecijom 56%
(14/25) majki su potvrđene kao nosioci, a kod probanada sa duplikacijom 3 od 4 majke
(75%). Od preostalih 9 ženskih srodnika, mutacije su nađene kod nijh 4. Prenatalnom
dijagnostikom utvrđene su delecije kod jednog muškog i jednog ženskog ploda iste majke.
Zaključak. Istraživanje je pokazalo da su majke bile nosioci u skoro 60% izolovanih
DMD/BMD slučajeva sa delecijama i duplikacijama. Takođe, učestalost majki nosioca kod
probanada sa duplikaciom (75%) se pokazala većom nego kod majki probanada sa
delecijom (56%). U slučaju majke koja je bila potvrđena kao nosilac, delecija je otkrivena
kod njena 2 ploda od 3 ispitana.",
publisher = "Vojnomedicinska akademija",
journal = "Vojnosanitetski pregled",
title = "The importance of direct genetic testing to determine female carriers in dystrophinopathies, Značaj direktnog genetičkog testiranja za utvrđivanje žena prenosioca kod distrofinopatija",
pages = "207-201",
number = "3",
volume = "80",
doi = "10.2298/VSP190208030SM"
}

Maksić, J., Maksimović, N., Rasulić, L., Milankov, O., Marjanović, A., Cvetković, D., Rakočević, V., Rakočević  Stojanović, V.,& Novaković, I.. (2023). The importance of direct genetic testing to determine female carriers in dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija., 80(3), 201-207.
https://doi.org/10.2298/VSP190208030SM

Maksić J, Maksimović N, Rasulić L, Milankov O, Marjanović A, Cvetković D, Rakočević V, Rakočević  Stojanović V, Novaković I. The importance of direct genetic testing to determine female carriers in dystrophinopathies. in Vojnosanitetski pregled. 2023;80(3):201-207.
doi:10.2298/VSP190208030SM .

Maksić, Jasmina, Maksimović, Nela, Rasulić, Lukas, Milankov, Olgica, Marjanović, Ana, Cvetković, Dragana, Rakočević, Vidosava, Rakočević  Stojanović, Vidosava, Novaković, Ivana, "The importance of direct genetic testing to determine female carriers in dystrophinopathies" in Vojnosanitetski pregled, 80, no. 3 (2023):201-207,
https://doi.org/10.2298/VSP190208030SM . .

TY  - JOUR
AU  - Andjelković, Marija
AU  - Vučinić, Vesna
AU  - Gligorović, Milica
AU  - Maksić, Jasmina
PY  - 2022
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4927
AB  - The acquisition of practical skills, as with adaptive behaviour in general, is affected by an array of personal and environmental factors. The aim of this study was to determine the level of acquisition of practical adaptive skills among adults with vision impairment in comparison to the norms among the general population, and with regard to the visual status (low vision and blindness), age of vision loss onset, gender, age, living arrangements, education, and employment status. Methods. Seventy-nine persons who are blind and forty-eight volunteers with low vision with typical intellectual abilities took part in the study. The respondents were aged from 19 to 60 (M = 36.06, SD = 11.777). Practical adaptive skills were assessed using the Practical Skills domain which is part of the Adaptive Behavior Assessment System II – ABAS II. Results. The scores achieved in the skill areas of the Practical Skills domain, range from extremely low to average. Extremely low scores were detected in the Work skill area, for the skill areas of Community Use, Home Living and Health and Safety, the scores were below average, and average scores were noted in the Self-Care skill area. The degree of practical skills acquisition among persons with vision impairment depended primarily on the visual status, but a significant connection with living arrangements and employment status was also established. Conclusion. Persons with vision impairment showed significant limitations in the area of practical skills, which indicate the need for support programs designed to foster the development of self-reliance.
AB  - Niz ličnih i sredinskih činilaca utiče na usvajanje praktičnih veština, kao i na adaptivno ponašanje u celini. Cilj rada je bio da se utvrdi nivo usvojenosti praktičnih adaptivnih veština kod odraslih osoba sa oštećenjem vida, u poređenju sa normama u opštoj populaciji, kao i u odnosu na vizuelni status (slabovidost i slepoća), vreme gubitka vida, pol, uzrast, porodični status, nivo obrazovanja i radni status. Metode. U istraživanju je dobrovoljno učestovalo 79 (62,2%) slepih i 48 (37,8%) slabovidih ispitanika tipičnih intelektualnih sposobnosti. Ispitanici su bili starosti starosti od 19 do 60 godina (M=36,06, SD=11,777). Za procenu praktičnih veština korišćen je domen 'Praktične veštine' koji pripada Adaptive Behavior Assessment System II – ABAS II. Rezultati. Skorovi ostvareni na subtestovima domena 'Praktične veštine' kretali su se u rangu od ekstremno niskih do prosečnih. Ekstremno niska postignuća zabeležena su na subtestu 'Posao', u rangu ispodprosečnih vrednosti bili su skorovi na subtestovima 'Život u zajednici', 'Život u kući' i 'Zdravlje i bezbednost', a u rangu prosečnih na subtestu 'Briga o sebi'. Usvojenost praktičnih veština kod osoba sa oštećenjem vida prvenstveno je zavisila od kategorije oštećenja vida, a utvrđena je i njihova značajna povezanost sa porodičnim statusom i radnim iskustvom. Zaključak. Osobe sa oštećenjem vida ispoljavaju značajna ograničenja u oblasti praktičnih veština, što ukazuje na potrebu za programima podrške razvoju njihovog nezavisnog funkcionisanja.
PB  - Military Medical and Pharmaceutical Journal of Serbia
T2  - Vojnosanitetski pregled
T1  - The practical skills of persons with vision impairment
T1  - Praktične veštine osoba sa oštećenjem vida
DO  - 10.2298/VSP210328101A
ER  - 

@article{
author = "Andjelković, Marija and Vučinić, Vesna and Gligorović, Milica and Maksić, Jasmina",
year = "2022",
abstract = "The acquisition of practical skills, as with adaptive behaviour in general, is affected by an array of personal and environmental factors. The aim of this study was to determine the level of acquisition of practical adaptive skills among adults with vision impairment in comparison to the norms among the general population, and with regard to the visual status (low vision and blindness), age of vision loss onset, gender, age, living arrangements, education, and employment status. Methods. Seventy-nine persons who are blind and forty-eight volunteers with low vision with typical intellectual abilities took part in the study. The respondents were aged from 19 to 60 (M = 36.06, SD = 11.777). Practical adaptive skills were assessed using the Practical Skills domain which is part of the Adaptive Behavior Assessment System II – ABAS II. Results. The scores achieved in the skill areas of the Practical Skills domain, range from extremely low to average. Extremely low scores were detected in the Work skill area, for the skill areas of Community Use, Home Living and Health and Safety, the scores were below average, and average scores were noted in the Self-Care skill area. The degree of practical skills acquisition among persons with vision impairment depended primarily on the visual status, but a significant connection with living arrangements and employment status was also established. Conclusion. Persons with vision impairment showed significant limitations in the area of practical skills, which indicate the need for support programs designed to foster the development of self-reliance., Niz ličnih i sredinskih činilaca utiče na usvajanje praktičnih veština, kao i na adaptivno ponašanje u celini. Cilj rada je bio da se utvrdi nivo usvojenosti praktičnih adaptivnih veština kod odraslih osoba sa oštećenjem vida, u poređenju sa normama u opštoj populaciji, kao i u odnosu na vizuelni status (slabovidost i slepoća), vreme gubitka vida, pol, uzrast, porodični status, nivo obrazovanja i radni status. Metode. U istraživanju je dobrovoljno učestovalo 79 (62,2%) slepih i 48 (37,8%) slabovidih ispitanika tipičnih intelektualnih sposobnosti. Ispitanici su bili starosti starosti od 19 do 60 godina (M=36,06, SD=11,777). Za procenu praktičnih veština korišćen je domen 'Praktične veštine' koji pripada Adaptive Behavior Assessment System II – ABAS II. Rezultati. Skorovi ostvareni na subtestovima domena 'Praktične veštine' kretali su se u rangu od ekstremno niskih do prosečnih. Ekstremno niska postignuća zabeležena su na subtestu 'Posao', u rangu ispodprosečnih vrednosti bili su skorovi na subtestovima 'Život u zajednici', 'Život u kući' i 'Zdravlje i bezbednost', a u rangu prosečnih na subtestu 'Briga o sebi'. Usvojenost praktičnih veština kod osoba sa oštećenjem vida prvenstveno je zavisila od kategorije oštećenja vida, a utvrđena je i njihova značajna povezanost sa porodičnim statusom i radnim iskustvom. Zaključak. Osobe sa oštećenjem vida ispoljavaju značajna ograničenja u oblasti praktičnih veština, što ukazuje na potrebu za programima podrške razvoju njihovog nezavisnog funkcionisanja.",
publisher = "Military Medical and Pharmaceutical Journal of Serbia",
journal = "Vojnosanitetski pregled",
title = "The practical skills of persons with vision impairment, Praktične veštine osoba sa oštećenjem vida",
doi = "10.2298/VSP210328101A"
}

Andjelković, M., Vučinić, V., Gligorović, M.,& Maksić, J.. (2022). The practical skills of persons with vision impairment. in Vojnosanitetski pregled
Military Medical and Pharmaceutical Journal of Serbia..
https://doi.org/10.2298/VSP210328101A

Andjelković M, Vučinić V, Gligorović M, Maksić J. The practical skills of persons with vision impairment. in Vojnosanitetski pregled. 2022;.
doi:10.2298/VSP210328101A .

Andjelković, Marija, Vučinić, Vesna, Gligorović, Milica, Maksić, Jasmina, "The practical skills of persons with vision impairment" in Vojnosanitetski pregled (2022),
https://doi.org/10.2298/VSP210328101A . .

TY  - JOUR
AU  - Janković, M.
AU  - Novaković, Ivana
AU  - Nikolić, D.
AU  - Maksić, Jasmina
AU  - Branković, S.
AU  - Petronić, I.
AU  - Cirović, D.
AU  - Ducić, S.
AU  - Grajić, M.
AU  - Bogićević, D.
PY  - 2021
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1317
AB  - Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients’ quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of “metabolic memory” in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.
PB  - MDPI Ag
T2  - International Journal of Molecular Sciences
T1  - Genetic and epigenomic modifiers of diabetic neuropathy
IS  - 9
SP  - 4887
VL  - 22
DO  - 10.3390/ijms22094887
ER  - 

@article{
author = "Janković, M. and Novaković, Ivana and Nikolić, D. and Maksić, Jasmina and Branković, S. and Petronić, I. and Cirović, D. and Ducić, S. and Grajić, M. and Bogićević, D.",
year = "2021",
abstract = "Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients’ quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of “metabolic memory” in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.",
publisher = "MDPI Ag",
journal = "International Journal of Molecular Sciences",
title = "Genetic and epigenomic modifiers of diabetic neuropathy",
number = "9",
pages = "4887",
volume = "22",
doi = "10.3390/ijms22094887"
}

Janković, M., Novaković, I., Nikolić, D., Maksić, J., Branković, S., Petronić, I., Cirović, D., Ducić, S., Grajić, M.,& Bogićević, D.. (2021). Genetic and epigenomic modifiers of diabetic neuropathy. in International Journal of Molecular Sciences
MDPI Ag., 22(9), 4887.
https://doi.org/10.3390/ijms22094887

Janković M, Novaković I, Nikolić D, Maksić J, Branković S, Petronić I, Cirović D, Ducić S, Grajić M, Bogićević D. Genetic and epigenomic modifiers of diabetic neuropathy. in International Journal of Molecular Sciences. 2021;22(9):4887.
doi:10.3390/ijms22094887 .

Janković, M., Novaković, Ivana, Nikolić, D., Maksić, Jasmina, Branković, S., Petronić, I., Cirović, D., Ducić, S., Grajić, M., Bogićević, D., "Genetic and epigenomic modifiers of diabetic neuropathy" in International Journal of Molecular Sciences, 22, no. 9 (2021):4887,
https://doi.org/10.3390/ijms22094887 . .

TY  - CONF
AU  - Maksić, Jasmina
PY  - 2021
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4070
AB  - Nakon prvog slučaja infekcije SARS-CoV-2 virusom u Kini krajem 2019. godine, COVID-19 brzo prerasta u epidemiju, a zatim i pandemiju. Prema najnovijim po- dacima COVID-19 pandemija beleži oko 250 miliona zaraženih ljudi u svetu i preko 5 miliona smrtnih slučajeva kao posledica COVID-19 infekcije.
U radu su, na osnovu pregleda relevantne literature, prikazani podaci o vak- cinama dostupnim u našoj zemlji, njihovim karakteristikama, vakcinaciji trudnica i dece, kao i preporuke Svetske zdravstvene organizacije i Centra za kontrolu i prevenciju bolesti, za primenu vakcina.
I pored dostupnosti vakcina, stepen vakcinacije u našoj zemlji još uvek nije doveo do stvaranja kolektivnog imuniteta. Razlog leži u nepoverenju prema vakcinama zbog njihovog brzog puštanja u upotrebu. To nameće potrebu za jasnim i pouzdanim preporukama zdravstvenih radnika kako bi se ublažila zabrinu- tost u vezi sa bezbednošću vakcina.
AB  - After the first case of SARS-CoV-2 virus infection in China at the end of 2019, COVID-19 quickly grew into an epidemic, and then a pandemic. According to the latest data from the COVID-19 pandemic, there are about 250 million infected and over 5 million deaths in the world as a result of the COVID-19 infection.
Based on a review of relevant literature, the paper presents data on vaccines available in our country, their characteristics, vaccination of pregnant women and children, as well as the recommendations of the World Health Organization and the Center for Disease Control and Prevention for vaccines.
Despite the availability of vaccines, the level of vaccination in our country has not yet led to the collective immunity. The main reason lies in the distrust of vaccines due to their rapid release. This imposes the need for clear and reliable recommendations from healthcare professionals to alleviate concerns about vaccine safety.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - Nacionalni naučni skup "Specijalna edukacija i rehabilitacija u uslovima pandemije Covid 19", Beograd, Srbija, 23. decembar 2021. godine
T1  - Covid-19 i vakcinacija
T1  - Covid-19 and vaccination
EP  - 129
SP  - 145
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4070
ER  - 

@conference{
author = "Maksić, Jasmina",
year = "2021",
abstract = "Nakon prvog slučaja infekcije SARS-CoV-2 virusom u Kini krajem 2019. godine, COVID-19 brzo prerasta u epidemiju, a zatim i pandemiju. Prema najnovijim po- dacima COVID-19 pandemija beleži oko 250 miliona zaraženih ljudi u svetu i preko 5 miliona smrtnih slučajeva kao posledica COVID-19 infekcije.
U radu su, na osnovu pregleda relevantne literature, prikazani podaci o vak- cinama dostupnim u našoj zemlji, njihovim karakteristikama, vakcinaciji trudnica i dece, kao i preporuke Svetske zdravstvene organizacije i Centra za kontrolu i prevenciju bolesti, za primenu vakcina.
I pored dostupnosti vakcina, stepen vakcinacije u našoj zemlji još uvek nije doveo do stvaranja kolektivnog imuniteta. Razlog leži u nepoverenju prema vakcinama zbog njihovog brzog puštanja u upotrebu. To nameće potrebu za jasnim i pouzdanim preporukama zdravstvenih radnika kako bi se ublažila zabrinu- tost u vezi sa bezbednošću vakcina., After the first case of SARS-CoV-2 virus infection in China at the end of 2019, COVID-19 quickly grew into an epidemic, and then a pandemic. According to the latest data from the COVID-19 pandemic, there are about 250 million infected and over 5 million deaths in the world as a result of the COVID-19 infection.
Based on a review of relevant literature, the paper presents data on vaccines available in our country, their characteristics, vaccination of pregnant women and children, as well as the recommendations of the World Health Organization and the Center for Disease Control and Prevention for vaccines.
Despite the availability of vaccines, the level of vaccination in our country has not yet led to the collective immunity. The main reason lies in the distrust of vaccines due to their rapid release. This imposes the need for clear and reliable recommendations from healthcare professionals to alleviate concerns about vaccine safety.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - Nacionalni naučni skup "Specijalna edukacija i rehabilitacija u uslovima pandemije Covid 19", Beograd, Srbija, 23. decembar 2021. godine",
title = "Covid-19 i vakcinacija, Covid-19 and vaccination",
pages = "129-145",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4070"
}

Maksić, J.. (2021). Covid-19 i vakcinacija. in Zbornik radova - Nacionalni naučni skup "Specijalna edukacija i rehabilitacija u uslovima pandemije Covid 19", Beograd, Srbija, 23. decembar 2021. godine
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation., 145-129.
https://hdl.handle.net/21.15107/rcub_rfasper_4070

Maksić J. Covid-19 i vakcinacija. in Zbornik radova - Nacionalni naučni skup "Specijalna edukacija i rehabilitacija u uslovima pandemije Covid 19", Beograd, Srbija, 23. decembar 2021. godine. 2021;:145-129.
https://hdl.handle.net/21.15107/rcub_rfasper_4070 .

Maksić, Jasmina, "Covid-19 i vakcinacija" in Zbornik radova - Nacionalni naučni skup "Specijalna edukacija i rehabilitacija u uslovima pandemije Covid 19", Beograd, Srbija, 23. decembar 2021. godine (2021):145-129,
https://hdl.handle.net/21.15107/rcub_rfasper_4070 .

TY  - CONF
AU  - Maksić, Jasmina
PY  - 2021
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/3696
AB  - Uvod: Poremećaji iz spektra autizma predstavljaju klinički i etiološki veoma heterogenu grupu. Etiopatogeneza ovih, u osnovi, neurorazvojnih poremećaja je više od dve decenije predmet istraživanja velikog broja istraživača, a uključuje složene genetske, sredinske i epigenetske mehanizme.
Cilj: Cilj rada je bio da se sagleda udeo genetskih i epigenetskih faktora u nastanku poremećaja iz spektra autizma.
Metod: Pregled dostupne i relevantne literature.
Rezultati: Pokazalo se da genetski faktor značajno povećava rizik za razvoj poremećaja iz spektra autizma, u preko 50% slučajeva. Identifikovano je više od 100 gena koji se dovode u vezu sa ovim poremećajima. Pored genetskih varijanti koje su relativno česte, prisutna je tendencija prijavljivanja retkih de novo mutacija. Epigenetski mehanizmi, metilacija DNK i hemijska modifikacija histona su mehanizmi koji utiču na ekspresiju gena ne menjajući primarnu strukturu gena. Na promene u metilaciji DNK mogu da utiču određene genske mutacije, ali i faktori sredine - posebno oni koji vode oksidativnom stresu, što menja regulaciju genske ekspresije. Tako je kod nekih osoba sa autizmom uočena hipermetilacija delova DNK koji se nalaze u okolini regiona koji su od značaja za neurorazvoj.
Zaključak: Dosadašnja genetska istraživanja su omogućila sagledavanje poremećaja iz spektra autizma iz jednog novog ugla i razumevanje njihove etiopatogeneze kao složene interakcije različitih gena i faktora sredine, kao predispoziciju za nastanak ovih poremećaja.
AB  - Introduction: Autism spectrum disorders are clinically and etiologically a very heterogeneous group. The etiopathogenesis of these, basically, neurodevelopmental disorders has been the subject of research by a large number of researchers for more than two decades, and includes complex genetic, environmental and epigenetic mechanisms.
Aim: The aim of this paper was to review the role of genetic and epigenetic factors in the development of autism spectrum disorders.
Method: Review of available and relevant literature.
Results: Genetic factor has been shown to significantly increase the risk of developing autism spectrum disorders, in over 50% of cases. More than 100 genes have been identified that are linked to these disorders. In addition to genetic variants that are relatively common, there is a tendency to report rare de novo mutations. Epigenetic mechanisms, DNA methylation and chemical modification of histones, are mechanisms that affect gene expression without altering the primary structure of the gene. Changes in DNA methylation can be influenced by certain gene mutations, but also by environmental factors - especially those that lead to oxidative stress, which changes the regulation of gene expression. Thus, in some people with autism, hypermethylation of DNA parts found in the vicinity of the region that are important for neurodevelopment has been observed.
Conclusion: Previous genetic research has made it possible to view autism spectrum disorders from a new angle and to understand their etiopathogenesis as a complex interaction of different genes and environmental factors, as a predisposition for the development of these disorders.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik rezimea – 11. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 29–30.10.2021.
T1  - Genetika i epigenetika u poremećajima iz spektra autizma
T1  - Genetics and epigenetics in autism spectrum disorders
EP  - 104
SP  - 103
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_3696
ER  - 

@conference{
author = "Maksić, Jasmina",
year = "2021",
abstract = "Uvod: Poremećaji iz spektra autizma predstavljaju klinički i etiološki veoma heterogenu grupu. Etiopatogeneza ovih, u osnovi, neurorazvojnih poremećaja je više od dve decenije predmet istraživanja velikog broja istraživača, a uključuje složene genetske, sredinske i epigenetske mehanizme.
Cilj: Cilj rada je bio da se sagleda udeo genetskih i epigenetskih faktora u nastanku poremećaja iz spektra autizma.
Metod: Pregled dostupne i relevantne literature.
Rezultati: Pokazalo se da genetski faktor značajno povećava rizik za razvoj poremećaja iz spektra autizma, u preko 50% slučajeva. Identifikovano je više od 100 gena koji se dovode u vezu sa ovim poremećajima. Pored genetskih varijanti koje su relativno česte, prisutna je tendencija prijavljivanja retkih de novo mutacija. Epigenetski mehanizmi, metilacija DNK i hemijska modifikacija histona su mehanizmi koji utiču na ekspresiju gena ne menjajući primarnu strukturu gena. Na promene u metilaciji DNK mogu da utiču određene genske mutacije, ali i faktori sredine - posebno oni koji vode oksidativnom stresu, što menja regulaciju genske ekspresije. Tako je kod nekih osoba sa autizmom uočena hipermetilacija delova DNK koji se nalaze u okolini regiona koji su od značaja za neurorazvoj.
Zaključak: Dosadašnja genetska istraživanja su omogućila sagledavanje poremećaja iz spektra autizma iz jednog novog ugla i razumevanje njihove etiopatogeneze kao složene interakcije različitih gena i faktora sredine, kao predispoziciju za nastanak ovih poremećaja., Introduction: Autism spectrum disorders are clinically and etiologically a very heterogeneous group. The etiopathogenesis of these, basically, neurodevelopmental disorders has been the subject of research by a large number of researchers for more than two decades, and includes complex genetic, environmental and epigenetic mechanisms.
Aim: The aim of this paper was to review the role of genetic and epigenetic factors in the development of autism spectrum disorders.
Method: Review of available and relevant literature.
Results: Genetic factor has been shown to significantly increase the risk of developing autism spectrum disorders, in over 50% of cases. More than 100 genes have been identified that are linked to these disorders. In addition to genetic variants that are relatively common, there is a tendency to report rare de novo mutations. Epigenetic mechanisms, DNA methylation and chemical modification of histones, are mechanisms that affect gene expression without altering the primary structure of the gene. Changes in DNA methylation can be influenced by certain gene mutations, but also by environmental factors - especially those that lead to oxidative stress, which changes the regulation of gene expression. Thus, in some people with autism, hypermethylation of DNA parts found in the vicinity of the region that are important for neurodevelopment has been observed.
Conclusion: Previous genetic research has made it possible to view autism spectrum disorders from a new angle and to understand their etiopathogenesis as a complex interaction of different genes and environmental factors, as a predisposition for the development of these disorders.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik rezimea – 11. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 29–30.10.2021.",
title = "Genetika i epigenetika u poremećajima iz spektra autizma, Genetics and epigenetics in autism spectrum disorders",
pages = "104-103",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_3696"
}

Maksić, J.. (2021). Genetika i epigenetika u poremećajima iz spektra autizma. in Zbornik rezimea – 11. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 29–30.10.2021.
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju / University of Belgrade – Faculty of Special Education and Rehabilitation., 103-104.
https://hdl.handle.net/21.15107/rcub_rfasper_3696

Maksić J. Genetika i epigenetika u poremećajima iz spektra autizma. in Zbornik rezimea – 11. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 29–30.10.2021.. 2021;:103-104.
https://hdl.handle.net/21.15107/rcub_rfasper_3696 .

Maksić, Jasmina, "Genetika i epigenetika u poremećajima iz spektra autizma" in Zbornik rezimea – 11. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 29–30.10.2021. (2021):103-104,
https://hdl.handle.net/21.15107/rcub_rfasper_3696 .

TY  - CONF
AU  - Janjić, Jovana
AU  - Nikolić, Snežana
AU  - Maksić, Jasmina
AU  - Ilić-Stošović, Danijela
PY  - 2020
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4340
AB  - Holoprozencefalija obuhvata niz abnormalnosti koje su nastale rano u
embrionalnom razvoju prednjeg mozga. Odsustvo ili neadekvatno razdvajanje prednjeg
mozga na cerebralne hemisfere uzrokuje lobarnu, semilobarnu ili alobarnu
holoprozencefaliju. Facijalni fenotip je, uz druge deficite, u pozitivnoj korelaciji sa
težinom patološkog razvoja mozga. Stopa preživljavanja novorođenčeta sa
prozencefalijom iznosi 1 na 10000 do 16000 novorođenih beba.
Uopšteno, kod blažih formi, kod kojih dolazi do delimičnog razvoja hemisfera
prisustvo deficita obično uključuje širok spektar kliničkih manifestacija, koje zahtevaju
multidisciplinarni pristup u dijagnostici i tretmanu.
Istraživanje predstavlja pirkaz slučaja devetnaestomesečnog dečaka sa lobarnom
prozencefalijom, agenezom korpusa kalozuma, cerebralnom paralizom, kašnjenjem u
kognitivnom i jezičkom razvoju, izmenjenim obrascima spavanja, poremećajem gutanja i
manjom telesnom težinom. Za prikupljanje podataka korišćena je medicinska
dokumentacija, opservacija deteta i upitnik za roditelje posebno dizajniran za potrebe
istraživanja.
Dobijeni podaci upućuju na značajno kašnjenje u svim sferama razvoja. Najbolja
postignuća su uočena u sferi razumevanja situacionih naloga koja ne zahtevaju motoričku
komponentu odgovra.
Blaže forme holoprozencefalije predstavljaju složene poremećaje sa širokim
spektrom manifestakcija kojima je neophodan multidisciplinaran pristup u dijagnostici i
tretmanu. Dalja istraživanja u ovoj oblasti omogući će ne samo bolje razumevanje
patogeneze i precizniju dijagnostiku ovog poremećaja već i pružanje neophodne
razvojne stimulacije u okviru multidisciplinarne rane intervencije.
PB  - Društvo defektologa Srbije
C3  - Zbornik rezimea – Stručno-naučna konferencija sa međunarodnim učešćem „Dani defektologa Srbije”, Beograd
T1  - Holoprozencefalija razvojne karakteristike - studija slučaja
SP  - 142
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4340
ER  - 

@conference{
author = "Janjić, Jovana and Nikolić, Snežana and Maksić, Jasmina and Ilić-Stošović, Danijela",
year = "2020",
abstract = "Holoprozencefalija obuhvata niz abnormalnosti koje su nastale rano u
embrionalnom razvoju prednjeg mozga. Odsustvo ili neadekvatno razdvajanje prednjeg
mozga na cerebralne hemisfere uzrokuje lobarnu, semilobarnu ili alobarnu
holoprozencefaliju. Facijalni fenotip je, uz druge deficite, u pozitivnoj korelaciji sa
težinom patološkog razvoja mozga. Stopa preživljavanja novorođenčeta sa
prozencefalijom iznosi 1 na 10000 do 16000 novorođenih beba.
Uopšteno, kod blažih formi, kod kojih dolazi do delimičnog razvoja hemisfera
prisustvo deficita obično uključuje širok spektar kliničkih manifestacija, koje zahtevaju
multidisciplinarni pristup u dijagnostici i tretmanu.
Istraživanje predstavlja pirkaz slučaja devetnaestomesečnog dečaka sa lobarnom
prozencefalijom, agenezom korpusa kalozuma, cerebralnom paralizom, kašnjenjem u
kognitivnom i jezičkom razvoju, izmenjenim obrascima spavanja, poremećajem gutanja i
manjom telesnom težinom. Za prikupljanje podataka korišćena je medicinska
dokumentacija, opservacija deteta i upitnik za roditelje posebno dizajniran za potrebe
istraživanja.
Dobijeni podaci upućuju na značajno kašnjenje u svim sferama razvoja. Najbolja
postignuća su uočena u sferi razumevanja situacionih naloga koja ne zahtevaju motoričku
komponentu odgovra.
Blaže forme holoprozencefalije predstavljaju složene poremećaje sa širokim
spektrom manifestakcija kojima je neophodan multidisciplinaran pristup u dijagnostici i
tretmanu. Dalja istraživanja u ovoj oblasti omogući će ne samo bolje razumevanje
patogeneze i precizniju dijagnostiku ovog poremećaja već i pružanje neophodne
razvojne stimulacije u okviru multidisciplinarne rane intervencije.",
publisher = "Društvo defektologa Srbije",
journal = "Zbornik rezimea – Stručno-naučna konferencija sa međunarodnim učešćem „Dani defektologa Srbije”, Beograd",
title = "Holoprozencefalija razvojne karakteristike - studija slučaja",
pages = "142",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4340"
}

Janjić, J., Nikolić, S., Maksić, J.,& Ilić-Stošović, D.. (2020). Holoprozencefalija razvojne karakteristike - studija slučaja. in Zbornik rezimea – Stručno-naučna konferencija sa međunarodnim učešćem „Dani defektologa Srbije”, Beograd
Društvo defektologa Srbije., 142.
https://hdl.handle.net/21.15107/rcub_rfasper_4340

Janjić J, Nikolić S, Maksić J, Ilić-Stošović D. Holoprozencefalija razvojne karakteristike - studija slučaja. in Zbornik rezimea – Stručno-naučna konferencija sa međunarodnim učešćem „Dani defektologa Srbije”, Beograd. 2020;:142.
https://hdl.handle.net/21.15107/rcub_rfasper_4340 .

Janjić, Jovana, Nikolić, Snežana, Maksić, Jasmina, Ilić-Stošović, Danijela, "Holoprozencefalija razvojne karakteristike - studija slučaja" in Zbornik rezimea – Stručno-naučna konferencija sa međunarodnim učešćem „Dani defektologa Srbije”, Beograd (2020):142,
https://hdl.handle.net/21.15107/rcub_rfasper_4340 .

TY  - JOUR
AU  - Maksić, Jasmina
AU  - Dobričić, Valerija
AU  - Rasulić, Lukas
AU  - Maksimović, Nela
AU  - Branković, Marija
AU  - Milić-Rašić, Vedrana
AU  - Rakočević-Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2020
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1261
AB  - Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the disease. They result from mutations in the dystrophin gene, and the most common changes are large intragenic deletions and duplications (80%). One third of patients have de novo mutation and 2/3 of the mothers are estimated as carriers. The aim of the study was to analyze the frequency of duplications versus deletions in the dystrophin gene in patients with dystrophinopathies, as well as to analyze the phenotypic effect of large mutations obtained and to determine the carrier status of female relatives in probands with duplications. Methods. We examined 22 DMD and 35 BMD unrelated patients and 6 female relatives of the probands where duplications were found. We used polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) methods, according to the protocol, to detect or confirm mutations in probands and female carriers. Results. In probands, there were 34 (59.6%) large deletions (mostly affected exons 44-60) and 6 (10.5%) large duplications in 4 DMD and 2 BMD patients. Also, duplications were found in 3 out of 4 (75%) tested mothers. The distribution of duplications was heterogeneous, affecting N-terminal and central rod domain, and included more exons, except for one DMD patient who had duplication of exon 2. An exception from the Monaco rule was present in 9.5% of DMD and 15.8% of BMD probands, i.e. in 12.5% of DMD/BMD cases. Conclusion. In 57 DMD/BMD probands, we found 59.6% of large deletions and 10.5% of large duplications. The most affected region of the DMD gene was the central rod domain. An exception to Monaco's rule was present in 12.5% of DMD/BMD cases. Three out of 4 examined proband's mothers were confirmed as carriers.
AB  - Uvod/Cilj. Dišenova mišićna distrofija (DMD) i njegova alelna forma, Bekerova mišićna distrofija (BMD), su Xvezane nasledne bolesti od kojih obolevaju muškarci, a karakteriše ih progresivna mišićna i kardiopulmonalna slabost, posebno kod DMD kao težeg oblika bolesti. Ove bolesti nastaju kao posledica mutacija u genu za distrofin, a najčešće su prisutne intragenske delecije i duplikacije (80%). Novonastalu mutaciju ima1/3 bolesnika, a procenjeno je da su 2/3 majki nosioci. Cilj rada je bio da se analizira učestalost duplikacija u odnosu na delecije u genu za distrofin kod bolesnika sa distrofinopatijom, kao i da se ispita efekat dobijenih mutacija na fenotip kod probanda i utvrdimo status nosioca kod ženskih srodnika probanda sa duplikacijama. Metode. Studijom je bilo obuhvaćeno 22 DMD i 35 BMD nesrodnih bolesnika i šest ženskih srodnika probanda kod kojih su bile otkrivene duplikacije. Za otkrivanje ili potvrdu mutacije, kod probanda i ženskih nosioca, korišćene su metode: lančana reakcija polimerazom (PCR) i višestruko umnožavanje vezanih sondi (MLPA), prema datom protokolu. Rezultati. Kod probanda je nađeno 34 (59,6%) velikih delecija (najčešće su bili zahvaćeni egzoni 44-60) i 6 velikih duplikacija (10,5%) kod 4 DMD i 2 BMD bolesnika. Takođe, duplikacije su nađene kod 3 od 4 (75%) testirane majke. Distribucija duplikacija je bila heterogena, obuhvatala je N-terminalni i štapićasti region i uključivala je veći broj egzona, osim kod jednog DMD bolesnika koji je imao duplikaciju egzona 2. Odstupanje od Monakovog pravila je bilo prisutno kod 9,5% DMD probanda, odnosno kod 15,8% BMD probanda, to jest kod 12,5% slučajeva. Zaključak. Kod 57 DMD/BMD probanda nađeno je 59,6% velikih delecija i 10,5% velikih duplikacija. Najčešće je bio zahvaćen štapićasti domen u DMD genu. Odstupanje od Monakovog pravila je bilo prisutno u 12,5% DMD/BMD slučajeva. Tri od četiri ispitane majke probanda su bile potvrđene kao nosioci.
PB  - Vojnomedicinska akademija - Institut za naučne informacije, Beograd
T2  - Vojnosanitetski pregled
T1  - Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies
T1  - Uporedna analiza duplikacija i delecija u genu za distrofin u grupi bolesnika sa distrofinopatijom iz Srbije
EP  - 394
IS  - 4
SP  - 387
VL  - 77
DO  - 10.2298/VSP180226089M
ER  - 

@article{
author = "Maksić, Jasmina and Dobričić, Valerija and Rasulić, Lukas and Maksimović, Nela and Branković, Marija and Milić-Rašić, Vedrana and Rakočević-Stojanović, Vidosava and Novaković, Ivana",
year = "2020",
abstract = "Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the disease. They result from mutations in the dystrophin gene, and the most common changes are large intragenic deletions and duplications (80%). One third of patients have de novo mutation and 2/3 of the mothers are estimated as carriers. The aim of the study was to analyze the frequency of duplications versus deletions in the dystrophin gene in patients with dystrophinopathies, as well as to analyze the phenotypic effect of large mutations obtained and to determine the carrier status of female relatives in probands with duplications. Methods. We examined 22 DMD and 35 BMD unrelated patients and 6 female relatives of the probands where duplications were found. We used polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) methods, according to the protocol, to detect or confirm mutations in probands and female carriers. Results. In probands, there were 34 (59.6%) large deletions (mostly affected exons 44-60) and 6 (10.5%) large duplications in 4 DMD and 2 BMD patients. Also, duplications were found in 3 out of 4 (75%) tested mothers. The distribution of duplications was heterogeneous, affecting N-terminal and central rod domain, and included more exons, except for one DMD patient who had duplication of exon 2. An exception from the Monaco rule was present in 9.5% of DMD and 15.8% of BMD probands, i.e. in 12.5% of DMD/BMD cases. Conclusion. In 57 DMD/BMD probands, we found 59.6% of large deletions and 10.5% of large duplications. The most affected region of the DMD gene was the central rod domain. An exception to Monaco's rule was present in 12.5% of DMD/BMD cases. Three out of 4 examined proband's mothers were confirmed as carriers., Uvod/Cilj. Dišenova mišićna distrofija (DMD) i njegova alelna forma, Bekerova mišićna distrofija (BMD), su Xvezane nasledne bolesti od kojih obolevaju muškarci, a karakteriše ih progresivna mišićna i kardiopulmonalna slabost, posebno kod DMD kao težeg oblika bolesti. Ove bolesti nastaju kao posledica mutacija u genu za distrofin, a najčešće su prisutne intragenske delecije i duplikacije (80%). Novonastalu mutaciju ima1/3 bolesnika, a procenjeno je da su 2/3 majki nosioci. Cilj rada je bio da se analizira učestalost duplikacija u odnosu na delecije u genu za distrofin kod bolesnika sa distrofinopatijom, kao i da se ispita efekat dobijenih mutacija na fenotip kod probanda i utvrdimo status nosioca kod ženskih srodnika probanda sa duplikacijama. Metode. Studijom je bilo obuhvaćeno 22 DMD i 35 BMD nesrodnih bolesnika i šest ženskih srodnika probanda kod kojih su bile otkrivene duplikacije. Za otkrivanje ili potvrdu mutacije, kod probanda i ženskih nosioca, korišćene su metode: lančana reakcija polimerazom (PCR) i višestruko umnožavanje vezanih sondi (MLPA), prema datom protokolu. Rezultati. Kod probanda je nađeno 34 (59,6%) velikih delecija (najčešće su bili zahvaćeni egzoni 44-60) i 6 velikih duplikacija (10,5%) kod 4 DMD i 2 BMD bolesnika. Takođe, duplikacije su nađene kod 3 od 4 (75%) testirane majke. Distribucija duplikacija je bila heterogena, obuhvatala je N-terminalni i štapićasti region i uključivala je veći broj egzona, osim kod jednog DMD bolesnika koji je imao duplikaciju egzona 2. Odstupanje od Monakovog pravila je bilo prisutno kod 9,5% DMD probanda, odnosno kod 15,8% BMD probanda, to jest kod 12,5% slučajeva. Zaključak. Kod 57 DMD/BMD probanda nađeno je 59,6% velikih delecija i 10,5% velikih duplikacija. Najčešće je bio zahvaćen štapićasti domen u DMD genu. Odstupanje od Monakovog pravila je bilo prisutno u 12,5% DMD/BMD slučajeva. Tri od četiri ispitane majke probanda su bile potvrđene kao nosioci.",
publisher = "Vojnomedicinska akademija - Institut za naučne informacije, Beograd",
journal = "Vojnosanitetski pregled",
title = "Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies, Uporedna analiza duplikacija i delecija u genu za distrofin u grupi bolesnika sa distrofinopatijom iz Srbije",
pages = "394-387",
number = "4",
volume = "77",
doi = "10.2298/VSP180226089M"
}

Maksić, J., Dobričić, V., Rasulić, L., Maksimović, N., Branković, M., Milić-Rašić, V., Rakočević-Stojanović, V.,& Novaković, I.. (2020). Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija - Institut za naučne informacije, Beograd., 77(4), 387-394.
https://doi.org/10.2298/VSP180226089M

Maksić J, Dobričić V, Rasulić L, Maksimović N, Branković M, Milić-Rašić V, Rakočević-Stojanović V, Novaković I. Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies. in Vojnosanitetski pregled. 2020;77(4):387-394.
doi:10.2298/VSP180226089M .

Maksić, Jasmina, Dobričić, Valerija, Rasulić, Lukas, Maksimović, Nela, Branković, Marija, Milić-Rašić, Vedrana, Rakočević-Stojanović, Vidosava, Novaković, Ivana, "Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies" in Vojnosanitetski pregled, 77, no. 4 (2020):387-394,
https://doi.org/10.2298/VSP180226089M . .

TY  - CONF
AU  - Maksić, Jasmina
AU  - Novaković, Ivana
AU  - Rapaić, Dragan
AU  - Mitrović, Mirjana
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/3165
AB  - Dišenova i Bekerova mišićna distrofija (DMD i BMD) su progresivne mišićne
bolesti koje nastaju usled mutacija u genu za distrofin. Gen za distrofin (DMD
gen, Xp21.1) je veličine 2,4MB i podložan je promenama u strukturi. Najčešće
su prisutne intragenske delecije (65-70%) jednog ili više egzona, sa specifičnom
distribucijom u genu (egzoni 2-20 i egzoni 45-55) i duplikacije (5-15%), a
ostatak čine male mutacije – tačkaste mutacije, mikroinsercije, mikrodelecije i
splice-site mutacije. Procenjeno je da 1/3 DMD bolesnika ima de novo mutaciju,
a da su u 2/3 slučajeva majke prenosioci mutacije. Genska dijagnoza DMD/
BMD se može postaviti primenom direktne ili indirektne molekularno genetičke
analize. Metoda lančane reakcije polimerizacije (PCR) je direktna metoda
koja omogućuje detekciju oko 98% svih delecija otkrivenih u DMD genu.
Ipak, ovom metodom se ne mogu otkriti delecije van predilekcionih regiona
gena, kao ni duplikacije, i nije korisna kod detekcije žena prenosioca mutacije.
Metoda višestrukog umnožavanja vezanih proba (MLPA) je omogućila kvantitativnu
analizu gena i otkrivanje delecija i van predilekcionih regiona gena,
kao i duplikacija, kako kod obolelih tako i kod žena prenosioca mutacije, pa je
postala standard u DMD/BMD dijagnozi. Kada se ovim metodama ne otkriju
delecije i duplikacije u genu za distrofin, u cilju traganja za tačkastim mutacijama,
ispitivanje se nastavlja metodom sekvenciranja DNK. Ipak, zbog izuzetne
veličine gena i slučajnog rasporeda tačkastih mutacija može se prvo primeniti
analiza vezanosti kao indirektana dijagnostička metoda. Ona podrazumeva
praćenje nasleđivanja rizičinog hromozoma kod ženskih i muških članova u
porodici, putem praćenja polimorfnih DNK markera koji se nalaze u okviru
DMD gena, ili u njegovoj blizini. Ograničenja metode su postojanje neinformativnih
genotipova, rekombinacije u DMD genu, a zahteva i ispitivanje više
članova u porodici. Postavljanje precizne dijagnoze kod obolelog i otkrivanje žena prenosioca mutacije je od značaja za davanje adekvatnog genetičkog
saveta i sprovođenje prenatalne dijagnoze.
AB  - Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive muscle
diseases that result from mutations in the dystrophin gene. The dystrophin gene (DMD gene,
Xp21.1) is 2.4MB in size and subject to changes the structure. Most common are intragenous
deletions (65-70%) of one or more exons, with specific distribution in the gene (exons 2-20
and exons 45-55) and duplication (5-15%), and the rest are small mutations - point mutations,
microinsertions, microdeletions, and splice-site mutations. It is estimated that 1/3 of DMD
patients have de novo mutation, while in 2/3 of cases the mother is a carrier. The gene
diagnosis of DMD/BMD can be made using direct or indirect molecular genetic analysis.
The polymerase chain reaction (PCR) method is a direct method that allows detection of about 98% of all deletions detected in the DMD gene. However, this method cannot detect
deletions outside the predilection regions of the gene, nor duplication, and is not useful in
the detection of female carriers. Multiplex ligation-dependent probe amplification (MLPA)
enabled quantitative gene analysis and detection of deletions outside the predilection
regions of the gene as well as duplication, both in patients and in the female carrier of
mutations, and became a standard in DMD/BMD diagnosis. When these methods do not
find deletions and duplications in the dystrophin gene, in order to search for point mutations,
the test continues with the DNA sequencing method. However, due to the exceptional size
of the gene and the random arrangement of point mutations, the linkage analysis can be
applied first as an indirect diagnostic method. It involves monitoring the inheritance of risky
chromosomes in males and females in the family, by monitoring polymorphic DNA markers
within the DMD gene, or in its surroundings. Method limitations are the existence of noninformative
genotypes, recombination in the DMD gene, and it requires the analysis of more
family members. The precise diagnosis of affected men and the detection of women who are
carriers is important for giving adequate genetic advice and carrying out prenatal diagnosis.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.
T1  - Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca
T1  - Gene diagnosis of duchenne and becker muscular
dystrophy and carrier detection
EP  - 143
SP  - 137
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_3165
ER  - 

@conference{
author = "Maksić, Jasmina and Novaković, Ivana and Rapaić, Dragan and Mitrović, Mirjana",
year = "2019",
abstract = "Dišenova i Bekerova mišićna distrofija (DMD i BMD) su progresivne mišićne
bolesti koje nastaju usled mutacija u genu za distrofin. Gen za distrofin (DMD
gen, Xp21.1) je veličine 2,4MB i podložan je promenama u strukturi. Najčešće
su prisutne intragenske delecije (65-70%) jednog ili više egzona, sa specifičnom
distribucijom u genu (egzoni 2-20 i egzoni 45-55) i duplikacije (5-15%), a
ostatak čine male mutacije – tačkaste mutacije, mikroinsercije, mikrodelecije i
splice-site mutacije. Procenjeno je da 1/3 DMD bolesnika ima de novo mutaciju,
a da su u 2/3 slučajeva majke prenosioci mutacije. Genska dijagnoza DMD/
BMD se može postaviti primenom direktne ili indirektne molekularno genetičke
analize. Metoda lančane reakcije polimerizacije (PCR) je direktna metoda
koja omogućuje detekciju oko 98% svih delecija otkrivenih u DMD genu.
Ipak, ovom metodom se ne mogu otkriti delecije van predilekcionih regiona
gena, kao ni duplikacije, i nije korisna kod detekcije žena prenosioca mutacije.
Metoda višestrukog umnožavanja vezanih proba (MLPA) je omogućila kvantitativnu
analizu gena i otkrivanje delecija i van predilekcionih regiona gena,
kao i duplikacija, kako kod obolelih tako i kod žena prenosioca mutacije, pa je
postala standard u DMD/BMD dijagnozi. Kada se ovim metodama ne otkriju
delecije i duplikacije u genu za distrofin, u cilju traganja za tačkastim mutacijama,
ispitivanje se nastavlja metodom sekvenciranja DNK. Ipak, zbog izuzetne
veličine gena i slučajnog rasporeda tačkastih mutacija može se prvo primeniti
analiza vezanosti kao indirektana dijagnostička metoda. Ona podrazumeva
praćenje nasleđivanja rizičinog hromozoma kod ženskih i muških članova u
porodici, putem praćenja polimorfnih DNK markera koji se nalaze u okviru
DMD gena, ili u njegovoj blizini. Ograničenja metode su postojanje neinformativnih
genotipova, rekombinacije u DMD genu, a zahteva i ispitivanje više
članova u porodici. Postavljanje precizne dijagnoze kod obolelog i otkrivanje žena prenosioca mutacije je od značaja za davanje adekvatnog genetičkog
saveta i sprovođenje prenatalne dijagnoze., Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive muscle
diseases that result from mutations in the dystrophin gene. The dystrophin gene (DMD gene,
Xp21.1) is 2.4MB in size and subject to changes the structure. Most common are intragenous
deletions (65-70%) of one or more exons, with specific distribution in the gene (exons 2-20
and exons 45-55) and duplication (5-15%), and the rest are small mutations - point mutations,
microinsertions, microdeletions, and splice-site mutations. It is estimated that 1/3 of DMD
patients have de novo mutation, while in 2/3 of cases the mother is a carrier. The gene
diagnosis of DMD/BMD can be made using direct or indirect molecular genetic analysis.
The polymerase chain reaction (PCR) method is a direct method that allows detection of about 98% of all deletions detected in the DMD gene. However, this method cannot detect
deletions outside the predilection regions of the gene, nor duplication, and is not useful in
the detection of female carriers. Multiplex ligation-dependent probe amplification (MLPA)
enabled quantitative gene analysis and detection of deletions outside the predilection
regions of the gene as well as duplication, both in patients and in the female carrier of
mutations, and became a standard in DMD/BMD diagnosis. When these methods do not
find deletions and duplications in the dystrophin gene, in order to search for point mutations,
the test continues with the DNA sequencing method. However, due to the exceptional size
of the gene and the random arrangement of point mutations, the linkage analysis can be
applied first as an indirect diagnostic method. It involves monitoring the inheritance of risky
chromosomes in males and females in the family, by monitoring polymorphic DNA markers
within the DMD gene, or in its surroundings. Method limitations are the existence of noninformative
genotypes, recombination in the DMD gene, and it requires the analysis of more
family members. The precise diagnosis of affected men and the detection of women who are
carriers is important for giving adequate genetic advice and carrying out prenatal diagnosis.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.",
title = "Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca, Gene diagnosis of duchenne and becker muscular
dystrophy and carrier detection",
pages = "143-137",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_3165"
}

Maksić, J., Novaković, I., Rapaić, D.,& Mitrović, M.. (2019). Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca. in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 137-143.
https://hdl.handle.net/21.15107/rcub_rfasper_3165

Maksić J, Novaković I, Rapaić D, Mitrović M. Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca. in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.. 2019;:137-143.
https://hdl.handle.net/21.15107/rcub_rfasper_3165 .

Maksić, Jasmina, Novaković, Ivana, Rapaić, Dragan, Mitrović, Mirjana, "Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca" in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019. (2019):137-143,
https://hdl.handle.net/21.15107/rcub_rfasper_3165 .

TY  - CONF
AU  - Maksić, Jasmina
AU  - Nikolić, Snežana
AU  - Ilić-Stošović, Danijela
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/3225
AB  - Genetsko savetovalište je značajn vid podrške roditeljima koji imaju dete
sa nekim genetskim ili negenetskim poremećajem, ali i onima koji planiraju
porodicu, posebno ukoliko imaju pozitivnu porodičnu istoriju malformacija
ili genetskih oboljenja. Genetsko savetovanje pomaže članovima porodice da
razumeju i prihvate bolest, i daje smernice za donošenje odluka u smislu daljih
genetskih testiranja i moguće prevencije.
U radu je kroz Dišenovu i Bekerovu mišićnu distrofiju dat model H-vezanog
recesivnog nasleđivanja, njegove specifičnosti, moguća testiranja obolelih i
žena prenosioca, kao i poteškoće u proceni rizika za ponovno javljanje bole-
sti (nove mutacije, germinativni mozaicizam kod majke). Činjenica da su žene
uglavnom fenotipski zdravi prenosioci mutacije, otežava njihovo blagovre-
meno otkrivanje. Ipak, oko 20% žena prenosioca ima simptomatologiju pore-
klom skeletnih i/ili srčanog mišića.
Važnost informisanja roditelja i članova porodice, kao i otkrivanje žena
prenosioca mutacije, jeste rađanje zdravog deteta, ali i potreba za kardio-
loškim praćenjem žena prenosioca mutacije.
AB  - Genetic counseling is a significant form of
support for parents who have a child with a
genetic or non-genetic disorder, but also for
those planning a family, especially if they have
a positive family history of malformations or
genetic diseases. Genetic counseling helps
family members to understand and accept the
disease and provides guidance for decision
making in terms of further genetic testing
and possible prevention.
In the paper, through Duchenne and Becker
muscular dystrophy, we gave an overview
of X linked recessive inheritance pattern,
its specificity, possible testing of diseased
and female carriers, as well as difficulties
in assessing the risk of disease recurrence
(new mutations, germline mosaicism in the
mother). The fact that women are generally
phenotypically healthy carriers of the
mutation makes it difficult to detect them
in a timely manner. However, in about 8%
of cases, women are manifest carriers of
symptoms on skeletal muscle, and in about
20% of cases, cardiac muscle is involved.The importance of informing parents and
family members, as well as the carrier
detection, is the birth of a healthy child,
but also the need for cardiac monitoring of
women carrying the mutation.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju (ICF)
C3  - Nacionalni naučni skup
„edukativna i rehabilitaciona podrška detetu, porodici i instituciji”
Zbornik radova
T1  - Važnost informisanja roditelja i
članova porodice o nasleđivanju rizičnog
X hromozoma kod distrofinopatija
T1  - The importance of informing
Parents and family members
About the inheritance of
The risky x chromosome in
Dystrophinopa
EP  - 84
SP  - 79
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_3225
ER  - 

@conference{
author = "Maksić, Jasmina and Nikolić, Snežana and Ilić-Stošović, Danijela",
year = "2019",
abstract = "Genetsko savetovalište je značajn vid podrške roditeljima koji imaju dete
sa nekim genetskim ili negenetskim poremećajem, ali i onima koji planiraju
porodicu, posebno ukoliko imaju pozitivnu porodičnu istoriju malformacija
ili genetskih oboljenja. Genetsko savetovanje pomaže članovima porodice da
razumeju i prihvate bolest, i daje smernice za donošenje odluka u smislu daljih
genetskih testiranja i moguće prevencije.
U radu je kroz Dišenovu i Bekerovu mišićnu distrofiju dat model H-vezanog
recesivnog nasleđivanja, njegove specifičnosti, moguća testiranja obolelih i
žena prenosioca, kao i poteškoće u proceni rizika za ponovno javljanje bole-
sti (nove mutacije, germinativni mozaicizam kod majke). Činjenica da su žene
uglavnom fenotipski zdravi prenosioci mutacije, otežava njihovo blagovre-
meno otkrivanje. Ipak, oko 20% žena prenosioca ima simptomatologiju pore-
klom skeletnih i/ili srčanog mišića.
Važnost informisanja roditelja i članova porodice, kao i otkrivanje žena
prenosioca mutacije, jeste rađanje zdravog deteta, ali i potreba za kardio-
loškim praćenjem žena prenosioca mutacije., Genetic counseling is a significant form of
support for parents who have a child with a
genetic or non-genetic disorder, but also for
those planning a family, especially if they have
a positive family history of malformations or
genetic diseases. Genetic counseling helps
family members to understand and accept the
disease and provides guidance for decision
making in terms of further genetic testing
and possible prevention.
In the paper, through Duchenne and Becker
muscular dystrophy, we gave an overview
of X linked recessive inheritance pattern,
its specificity, possible testing of diseased
and female carriers, as well as difficulties
in assessing the risk of disease recurrence
(new mutations, germline mosaicism in the
mother). The fact that women are generally
phenotypically healthy carriers of the
mutation makes it difficult to detect them
in a timely manner. However, in about 8%
of cases, women are manifest carriers of
symptoms on skeletal muscle, and in about
20% of cases, cardiac muscle is involved.The importance of informing parents and
family members, as well as the carrier
detection, is the birth of a healthy child,
but also the need for cardiac monitoring of
women carrying the mutation.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju (ICF)",
journal = "Nacionalni naučni skup
„edukativna i rehabilitaciona podrška detetu, porodici i instituciji”
Zbornik radova",
title = "Važnost informisanja roditelja i
članova porodice o nasleđivanju rizičnog
X hromozoma kod distrofinopatija, The importance of informing
Parents and family members
About the inheritance of
The risky x chromosome in
Dystrophinopa",
pages = "84-79",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_3225"
}

Maksić, J., Nikolić, S.,& Ilić-Stošović, D.. (2019). Važnost informisanja roditelja i
članova porodice o nasleđivanju rizičnog
X hromozoma kod distrofinopatija. in Nacionalni naučni skup
„edukativna i rehabilitaciona podrška detetu, porodici i instituciji”
Zbornik radova
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju (ICF)., 79-84.
https://hdl.handle.net/21.15107/rcub_rfasper_3225

Maksić J, Nikolić S, Ilić-Stošović D. Važnost informisanja roditelja i
članova porodice o nasleđivanju rizičnog
X hromozoma kod distrofinopatija. in Nacionalni naučni skup
„edukativna i rehabilitaciona podrška detetu, porodici i instituciji”
Zbornik radova. 2019;:79-84.
https://hdl.handle.net/21.15107/rcub_rfasper_3225 .

Maksić, Jasmina, Nikolić, Snežana, Ilić-Stošović, Danijela, "Važnost informisanja roditelja i
članova porodice o nasleđivanju rizičnog
X hromozoma kod distrofinopatija" in Nacionalni naučni skup
„edukativna i rehabilitaciona podrška detetu, porodici i instituciji”
Zbornik radova (2019):79-84,
https://hdl.handle.net/21.15107/rcub_rfasper_3225 .

TY  - JOUR
AU  - Milankov, Olgica B.
AU  - Bjelica, Milena R.
AU  - Suvajdžić, Ljiljana Đ.
AU  - Maksić, Jasmina
AU  - Milankov, Vasja M.
AU  - Medić, Deana D.
AU  - Ilić, Nebojša M.
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1227
AB  - Vitamin B12 deficiency usually occurs in exclusively breastfed infants whose mothers have pernicious anaemia or are vegetarian. Early treatment of vitamin B12 deficiency in infants can prevent potentially neurologic sequelae. A male child aged 13 months has been hospitalized due to failure to thrive, feeding problems, pallor, weakness and hypotonia. During the pregnancy mother did not eat meat and during lactation she also excluded eggs and milk. The child was exclusively breastfed. Laboratory investigations showed a haemoglobin level of 3.5 g/dL, haematocrit 10%, red blood cell count of 0.99 × 1012/L, white blood cell count of 4.23 × 109 /L and platelet count of 55 × 109 /L. Vitamin B12 level was low. A bone marrow aspiration finding was consistent with megaloblastic anaemia. The magnetic resonance imaging showed brain atrophy. Vitamin B12 in a dose of 10µg per kg was applied intramuscularly daily for 2 weeks, then once weekly. Three days after initiating B12 vitamin therapy there was an improvement in the blood count with the gradual improvement of neurological state. Vitamin B12 deficiency is a treatable cause of pancytopenia and neurological dysfunction in children and should be considered as differential diagnosis in an infant with neurological symptoms.
AB  - Deficijencija B12 vitamina se obično javlja kod odojčadi koja su na prirodnoj ishrani a čije majke imaju pernicioznu anemiju ili su vegetarijanci. Pravovremeno lečenje deficijencije B12 vitamina kod odojčadi može da prevenira potencijalne neurološke posledice. Malo muško dete uzrasta 13 meseci je hospitalizovano zbog nenapredovanja, problema sa hranjenjem, bledila, slabosti i hipotonije.Tokom trudnoće majka nije jela meso dok je tokom dojenja iz ishrane isključila i jaja i mleko. Dete je isključivo dojeno. U laboratorijskim nalazima nivo hemoglobina je iznosio 3,5 g/dl, hematokrit 10%, broj eritrocita je bio 0.99×1012/L, broj leukocita 4.23×109 /L i broj trombocita 55×109 /L. Nivo B12 vitamina je bio snižen. Nalaz biopsije kostne srži ukazivao je na megaloblastnu anemiju. Na magnetnoj rezonanci endokranijuma viđena je atrofija mozga. Vitamin B12 u dozi od 10 mikrograma/kg primenjen je intramuskularno svakodnevno tokom 2 nedelje, potom jednom nedeljno.Tri dana od započinjanja terapije zabeleženo je poboljšanje hematoloških vrednosti uz postepeno poboljšanje neurološkog statusa. Deficijencija B12 vitamina je uzrok pancitopenije i neurološke disfuncije kod dece koju je moguće lečiti. Kod odojčeta sa neurološkim simptomima ova deficijencija treba da bude razmotrena kao diferencijalna dijagnoza.
PB  - Univerzitet u Novom Sadu - Naučni institut za prehrambene tehnologije, Novi Sad
T2  - Food and Feed Research
T1  - Vitamin B12-deficient child of a vegan mother
T1  - Deficijencija B12 vitamina kod deteta majke na veganskoj ishrani
EP  - 225
IS  - 2
SP  - 219
VL  - 46
DO  - 10.5937/FFR1902219M
ER  - 

@article{
author = "Milankov, Olgica B. and Bjelica, Milena R. and Suvajdžić, Ljiljana Đ. and Maksić, Jasmina and Milankov, Vasja M. and Medić, Deana D. and Ilić, Nebojša M.",
year = "2019",
abstract = "Vitamin B12 deficiency usually occurs in exclusively breastfed infants whose mothers have pernicious anaemia or are vegetarian. Early treatment of vitamin B12 deficiency in infants can prevent potentially neurologic sequelae. A male child aged 13 months has been hospitalized due to failure to thrive, feeding problems, pallor, weakness and hypotonia. During the pregnancy mother did not eat meat and during lactation she also excluded eggs and milk. The child was exclusively breastfed. Laboratory investigations showed a haemoglobin level of 3.5 g/dL, haematocrit 10%, red blood cell count of 0.99 × 1012/L, white blood cell count of 4.23 × 109 /L and platelet count of 55 × 109 /L. Vitamin B12 level was low. A bone marrow aspiration finding was consistent with megaloblastic anaemia. The magnetic resonance imaging showed brain atrophy. Vitamin B12 in a dose of 10µg per kg was applied intramuscularly daily for 2 weeks, then once weekly. Three days after initiating B12 vitamin therapy there was an improvement in the blood count with the gradual improvement of neurological state. Vitamin B12 deficiency is a treatable cause of pancytopenia and neurological dysfunction in children and should be considered as differential diagnosis in an infant with neurological symptoms., Deficijencija B12 vitamina se obično javlja kod odojčadi koja su na prirodnoj ishrani a čije majke imaju pernicioznu anemiju ili su vegetarijanci. Pravovremeno lečenje deficijencije B12 vitamina kod odojčadi može da prevenira potencijalne neurološke posledice. Malo muško dete uzrasta 13 meseci je hospitalizovano zbog nenapredovanja, problema sa hranjenjem, bledila, slabosti i hipotonije.Tokom trudnoće majka nije jela meso dok je tokom dojenja iz ishrane isključila i jaja i mleko. Dete je isključivo dojeno. U laboratorijskim nalazima nivo hemoglobina je iznosio 3,5 g/dl, hematokrit 10%, broj eritrocita je bio 0.99×1012/L, broj leukocita 4.23×109 /L i broj trombocita 55×109 /L. Nivo B12 vitamina je bio snižen. Nalaz biopsije kostne srži ukazivao je na megaloblastnu anemiju. Na magnetnoj rezonanci endokranijuma viđena je atrofija mozga. Vitamin B12 u dozi od 10 mikrograma/kg primenjen je intramuskularno svakodnevno tokom 2 nedelje, potom jednom nedeljno.Tri dana od započinjanja terapije zabeleženo je poboljšanje hematoloških vrednosti uz postepeno poboljšanje neurološkog statusa. Deficijencija B12 vitamina je uzrok pancitopenije i neurološke disfuncije kod dece koju je moguće lečiti. Kod odojčeta sa neurološkim simptomima ova deficijencija treba da bude razmotrena kao diferencijalna dijagnoza.",
publisher = "Univerzitet u Novom Sadu - Naučni institut za prehrambene tehnologije, Novi Sad",
journal = "Food and Feed Research",
title = "Vitamin B12-deficient child of a vegan mother, Deficijencija B12 vitamina kod deteta majke na veganskoj ishrani",
pages = "225-219",
number = "2",
volume = "46",
doi = "10.5937/FFR1902219M"
}

Milankov, O. B., Bjelica, M. R., Suvajdžić, L. Đ., Maksić, J., Milankov, V. M., Medić, D. D.,& Ilić, N. M.. (2019). Vitamin B12-deficient child of a vegan mother. in Food and Feed Research
Univerzitet u Novom Sadu - Naučni institut za prehrambene tehnologije, Novi Sad., 46(2), 219-225.
https://doi.org/10.5937/FFR1902219M

Milankov OB, Bjelica MR, Suvajdžić LĐ, Maksić J, Milankov VM, Medić DD, Ilić NM. Vitamin B12-deficient child of a vegan mother. in Food and Feed Research. 2019;46(2):219-225.
doi:10.5937/FFR1902219M .

Milankov, Olgica B., Bjelica, Milena R., Suvajdžić, Ljiljana Đ., Maksić, Jasmina, Milankov, Vasja M., Medić, Deana D., Ilić, Nebojša M., "Vitamin B12-deficient child of a vegan mother" in Food and Feed Research, 46, no. 2 (2019):219-225,
https://doi.org/10.5937/FFR1902219M . .

TY  - JOUR
AU  - Svetel, Marina
AU  - Hartig, Monika
AU  - Cvetković, Dragana
AU  - Beaubois, Cyrielle
AU  - Maksić, Jasmina
AU  - Novaković, Ivana
AU  - Krajinović, Maja
AU  - Kostić, Vladimir
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1206
AB  - Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.
PB  - Srpsko biološko društvo, Beograd, i dr.
T2  - Archives of Biological Sciences
T1  - Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
EP  - 280
IS  - 2
SP  - 275
VL  - 71
DO  - 10.2298/ABS181227009S
ER  - 

@article{
author = "Svetel, Marina and Hartig, Monika and Cvetković, Dragana and Beaubois, Cyrielle and Maksić, Jasmina and Novaković, Ivana and Krajinović, Maja and Kostić, Vladimir",
year = "2019",
abstract = "Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.",
publisher = "Srpsko biološko društvo, Beograd, i dr.",
journal = "Archives of Biological Sciences",
title = "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients",
pages = "280-275",
number = "2",
volume = "71",
doi = "10.2298/ABS181227009S"
}

Svetel, M., Hartig, M., Cvetković, D., Beaubois, C., Maksić, J., Novaković, I., Krajinović, M.,& Kostić, V.. (2019). Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences
Srpsko biološko društvo, Beograd, i dr.., 71(2), 275-280.
https://doi.org/10.2298/ABS181227009S

Svetel M, Hartig M, Cvetković D, Beaubois C, Maksić J, Novaković I, Krajinović M, Kostić V. Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences. 2019;71(2):275-280.
doi:10.2298/ABS181227009S .

Svetel, Marina, Hartig, Monika, Cvetković, Dragana, Beaubois, Cyrielle, Maksić, Jasmina, Novaković, Ivana, Krajinović, Maja, Kostić, Vladimir, "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients" in Archives of Biological Sciences, 71, no. 2 (2019):275-280,
https://doi.org/10.2298/ABS181227009S . .

TY  - CONF
AU  - Mitrović-Milosavljević, Mirjana
AU  - Maksić, Jasmina
AU  - Mitrović, Predrag
AU  - Mitrović, Miodrag
PY  - 2018
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/3020
T1  - Unilateralna akutna idiopatska makulopatija
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_3020
ER  - 

@conference{
author = "Mitrović-Milosavljević, Mirjana and Maksić, Jasmina and Mitrović, Predrag and Mitrović, Miodrag",
year = "2018",
title = "Unilateralna akutna idiopatska makulopatija",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_3020"
}

Mitrović-Milosavljević, M., Maksić, J., Mitrović, P.,& Mitrović, M.. (2018). Unilateralna akutna idiopatska makulopatija. .
https://hdl.handle.net/21.15107/rcub_rfasper_3020

Mitrović-Milosavljević M, Maksić J, Mitrović P, Mitrović M. Unilateralna akutna idiopatska makulopatija. 2018;.
https://hdl.handle.net/21.15107/rcub_rfasper_3020 .

Mitrović-Milosavljević, Mirjana, Maksić, Jasmina, Mitrović, Predrag, Mitrović, Miodrag, "Unilateralna akutna idiopatska makulopatija" (2018),
https://hdl.handle.net/21.15107/rcub_rfasper_3020 .

TY  - THES
AU  - Maksić, Jasmina
PY  - 2018
UR  - https://nardus.mpn.gov.rs/handle/123456789/10572
UR  - http://eteze.bg.ac.rs/application/showtheses?thesesId=6430
UR  - https://fedorabg.bg.ac.rs/fedora/get/o:19145/bdef:Content/download
UR  - http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=50759951
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4932
AB  - Distrofinopatije su bolesti koje nastaju kao posledica mutacija u genu zadistrofin. Dišenova mišićna distrofija (DMD) predstavlja najteži oblik iz ove grupebolesti. Karakteriše je rani početak bolesti, progresivna mišićna slabost koja dovodi dogubitka pokretljivosti bolesnika i kardio-pulmonalne slabosti zbog zahvatanja srčanog irespiratornih mišića. Bekerova mišićna distrofija (BMD) se javlja kasnije, ima blaži tokbolesti, ali sa velikom varijabilnošću u kliničkoj slici. Nasleđujuju se X-vezanorecesivno, oboljevaju muškarci dok su žene uglavnom zdravi prenosioci bolesti.Procenjeno je da su 2/3 majki nosioci, 5-10% ima gonadni mozaicizam, dok 25-30%nema mutaciju. Gen za distrofin (DMD gen) je najveći opisani gen u humanom genomui često je podložan promenama. Najčešće su prisutne intragenske delecije (65%-70%) iduplikacije (5-15%) jednog ili više egzona, dok su tačkaste mutacije prisutne u 20%slučajeva. 1/3 bolesnika ima de novo mutaciju. Za sada nema uspešne terapijedistrofinopatija, pa je utvrđivanje statusa nosioca kod ženskih članova u familiji odznačaja za davanje genetskog saveta i prenatalnu dijagnozu.Cilj rada je bio da se utvrde i analiziraju delecije i duplikacije u genu za distrofin kodprobanada; da se u slučajevima potvrđenih delecija i duplikacija kod probanada utvdistatus prenosioca kod njihovih ženskih srodnka; u slučajevima bez dokazanih delecija iduplikacija kod probanada, da se ispita mogućnost indirektne genetičke analize zaodređivanje statusa ženskih prenosioca; da se u indikovanim slučajevima izvršiprenatalna molekularno genetička analiza DMD gena, primenom adekvatne metode zadatu porodicu.Material i metode: Uzorak su činila 72 DMD/BMD probanda, 69 ženskih članova iz44 porodice probanada i 11 trudnica (15 trudnoća). Genomska DNK za analizu jeizolovana iz limfocita periferne krvi ispitanika metodom isoljavanja prema standardnojproceduri, a za prenatalnu dijagnozu, DNK je izolovana iz uzorka horionskih resica,plodove vode ili krvi pupčanika ploda primenom komercijalnog kita. Za detetekcijudelecija i duplikacija u DMD genu kod probanda primenjene su metoda lančane reakcijepolimeraze (PCR) i metoda istovremenog umnožavanja vezanih proba (MLPA); zadetekciju ženskih nosioca primenjene su MLPA metoda i analiza vezanosti; zaprenatalnu dijagnozu primenjene su PCR metoda, analiza vezanosti i MLPA metoda...
AB  - Dystrophinopathies are diseases that result from mutations in thedystrophin gene. Duchenne muscular dystrophy (DMD) is the most severe form of thisgroup of diseases. It is characterized by an early onset of the disease, a progressivemuscle weakness that leads to loss of mobility of the patient, spreading to the heart andrespiratory muscles, causing cardio-pulmonary weakness. Becker muscular dystrophy(BMD) occurs in late childhood or adolescence, has a milder course of the disease, butwith widely variable clinical presentations. It has an X-linked recessive inheritedpattern, whereby males are affected, while females are mostly healthy carriers of thedisease. It is estimated that 2/3 of the mothers are carriers, 5-10% have gonadalmosaicism and 25-30% have no mutation. The gene for dystrophin (DMD gene) is thelargest known gene in the human genome and is often subject to change. The mostcommon changes are intragenal deletions (65% -70%) and the duplication (5-15%) ofone or more exons, as well as point mutations in 20% of cases. 1/3 of patients have denovo mutation. There is no successful therapy for dystrophinopathy, therefore thedetection of female carriers in a family is important for genetic counseling and prenataldaignosis.The aim of work was to determine and analyze the deletions and duplications of thedystrophin gene in probands; in the cases of confirmed deletions and duplications in thetrial, to determine the status of the carrier in their female relatives; in the cases with noproven deletions and duplications in the trial, the possibility of indirect genetic analysisfor determining the status of female carriers; in the indicated cases to perform prenatalmolecular genetic analysis of the DMD gene, using an appropriate method for aparticular family.Material and methods: The sample consisted of 72 DMD/BMD probands, 69 femalemembers from 44 proband families and 11 pregnant women (15 pregnancies). Thegenomic DNA for analysis was isolated from the peripheral blood lymphocytes of thesubjects, according to the standard procedure, and for prenatal diagnosis, the DNA wasisolated from the sample of chorionic villi, amniotic fluid or blood of the umbilical cordusing a commercial kit. For the detection of deletions and duplications in the DMDgene, polymerase chain reaction (PCR) method and multiplex ligation-dependent probeamplification (MLPA) method were applied; for the detection of female carriers, theMLPA method and linkage analysis were used; for prenatal diagnosis, the PCR method,linkage analysis and MLPA methods were applied...
PB  - Универзитет у Београду, Медицински факултет
T2  - Универзитет у Београду
T1  - Značaj određivanja statusa prenosioca kod Dišenove i Bekerove mišićne distrofije u populaciji Srbije
UR  - https://hdl.handle.net/21.15107/rcub_nardus_10572
ER  - 

@phdthesis{
author = "Maksić, Jasmina",
year = "2018",
abstract = "Distrofinopatije su bolesti koje nastaju kao posledica mutacija u genu zadistrofin. Dišenova mišićna distrofija (DMD) predstavlja najteži oblik iz ove grupebolesti. Karakteriše je rani početak bolesti, progresivna mišićna slabost koja dovodi dogubitka pokretljivosti bolesnika i kardio-pulmonalne slabosti zbog zahvatanja srčanog irespiratornih mišića. Bekerova mišićna distrofija (BMD) se javlja kasnije, ima blaži tokbolesti, ali sa velikom varijabilnošću u kliničkoj slici. Nasleđujuju se X-vezanorecesivno, oboljevaju muškarci dok su žene uglavnom zdravi prenosioci bolesti.Procenjeno je da su 2/3 majki nosioci, 5-10% ima gonadni mozaicizam, dok 25-30%nema mutaciju. Gen za distrofin (DMD gen) je najveći opisani gen u humanom genomui često je podložan promenama. Najčešće su prisutne intragenske delecije (65%-70%) iduplikacije (5-15%) jednog ili više egzona, dok su tačkaste mutacije prisutne u 20%slučajeva. 1/3 bolesnika ima de novo mutaciju. Za sada nema uspešne terapijedistrofinopatija, pa je utvrđivanje statusa nosioca kod ženskih članova u familiji odznačaja za davanje genetskog saveta i prenatalnu dijagnozu.Cilj rada je bio da se utvrde i analiziraju delecije i duplikacije u genu za distrofin kodprobanada; da se u slučajevima potvrđenih delecija i duplikacija kod probanada utvdistatus prenosioca kod njihovih ženskih srodnka; u slučajevima bez dokazanih delecija iduplikacija kod probanada, da se ispita mogućnost indirektne genetičke analize zaodređivanje statusa ženskih prenosioca; da se u indikovanim slučajevima izvršiprenatalna molekularno genetička analiza DMD gena, primenom adekvatne metode zadatu porodicu.Material i metode: Uzorak su činila 72 DMD/BMD probanda, 69 ženskih članova iz44 porodice probanada i 11 trudnica (15 trudnoća). Genomska DNK za analizu jeizolovana iz limfocita periferne krvi ispitanika metodom isoljavanja prema standardnojproceduri, a za prenatalnu dijagnozu, DNK je izolovana iz uzorka horionskih resica,plodove vode ili krvi pupčanika ploda primenom komercijalnog kita. Za detetekcijudelecija i duplikacija u DMD genu kod probanda primenjene su metoda lančane reakcijepolimeraze (PCR) i metoda istovremenog umnožavanja vezanih proba (MLPA); zadetekciju ženskih nosioca primenjene su MLPA metoda i analiza vezanosti; zaprenatalnu dijagnozu primenjene su PCR metoda, analiza vezanosti i MLPA metoda..., Dystrophinopathies are diseases that result from mutations in thedystrophin gene. Duchenne muscular dystrophy (DMD) is the most severe form of thisgroup of diseases. It is characterized by an early onset of the disease, a progressivemuscle weakness that leads to loss of mobility of the patient, spreading to the heart andrespiratory muscles, causing cardio-pulmonary weakness. Becker muscular dystrophy(BMD) occurs in late childhood or adolescence, has a milder course of the disease, butwith widely variable clinical presentations. It has an X-linked recessive inheritedpattern, whereby males are affected, while females are mostly healthy carriers of thedisease. It is estimated that 2/3 of the mothers are carriers, 5-10% have gonadalmosaicism and 25-30% have no mutation. The gene for dystrophin (DMD gene) is thelargest known gene in the human genome and is often subject to change. The mostcommon changes are intragenal deletions (65% -70%) and the duplication (5-15%) ofone or more exons, as well as point mutations in 20% of cases. 1/3 of patients have denovo mutation. There is no successful therapy for dystrophinopathy, therefore thedetection of female carriers in a family is important for genetic counseling and prenataldaignosis.The aim of work was to determine and analyze the deletions and duplications of thedystrophin gene in probands; in the cases of confirmed deletions and duplications in thetrial, to determine the status of the carrier in their female relatives; in the cases with noproven deletions and duplications in the trial, the possibility of indirect genetic analysisfor determining the status of female carriers; in the indicated cases to perform prenatalmolecular genetic analysis of the DMD gene, using an appropriate method for aparticular family.Material and methods: The sample consisted of 72 DMD/BMD probands, 69 femalemembers from 44 proband families and 11 pregnant women (15 pregnancies). Thegenomic DNA for analysis was isolated from the peripheral blood lymphocytes of thesubjects, according to the standard procedure, and for prenatal diagnosis, the DNA wasisolated from the sample of chorionic villi, amniotic fluid or blood of the umbilical cordusing a commercial kit. For the detection of deletions and duplications in the DMDgene, polymerase chain reaction (PCR) method and multiplex ligation-dependent probeamplification (MLPA) method were applied; for the detection of female carriers, theMLPA method and linkage analysis were used; for prenatal diagnosis, the PCR method,linkage analysis and MLPA methods were applied...",
publisher = "Универзитет у Београду, Медицински факултет",
journal = "Универзитет у Београду",
title = "Značaj određivanja statusa prenosioca kod Dišenove i Bekerove mišićne distrofije u populaciji Srbije",
url = "https://hdl.handle.net/21.15107/rcub_nardus_10572"
}

Maksić, J.. (2018). Značaj određivanja statusa prenosioca kod Dišenove i Bekerove mišićne distrofije u populaciji Srbije. in Универзитет у Београду
Универзитет у Београду, Медицински факултет..
https://hdl.handle.net/21.15107/rcub_nardus_10572

Maksić J. Značaj određivanja statusa prenosioca kod Dišenove i Bekerove mišićne distrofije u populaciji Srbije. in Универзитет у Београду. 2018;.
https://hdl.handle.net/21.15107/rcub_nardus_10572 .

Maksić, Jasmina, "Značaj određivanja statusa prenosioca kod Dišenove i Bekerove mišićne distrofije u populaciji Srbije" in Универзитет у Београду (2018),
https://hdl.handle.net/21.15107/rcub_nardus_10572 .

TY  - CONF
AU  - Mitrović-Milosavljević, Mirjana
AU  - Maksić, Jasmina
AU  - Mitrović, Predrag
AU  - Mitrović, Miodrag
PY  - 2017
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/2754
T1  - Dijagnostika malih melanoma sudovnjače
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_2754
ER  - 

@conference{
author = "Mitrović-Milosavljević, Mirjana and Maksić, Jasmina and Mitrović, Predrag and Mitrović, Miodrag",
year = "2017",
title = "Dijagnostika malih melanoma sudovnjače",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_2754"
}

Mitrović-Milosavljević, M., Maksić, J., Mitrović, P.,& Mitrović, M.. (2017). Dijagnostika malih melanoma sudovnjače. .
https://hdl.handle.net/21.15107/rcub_rfasper_2754

Mitrović-Milosavljević M, Maksić J, Mitrović P, Mitrović M. Dijagnostika malih melanoma sudovnjače. 2017;.
https://hdl.handle.net/21.15107/rcub_rfasper_2754 .

Mitrović-Milosavljević, Mirjana, Maksić, Jasmina, Mitrović, Predrag, Mitrović, Miodrag, "Dijagnostika malih melanoma sudovnjače" (2017),
https://hdl.handle.net/21.15107/rcub_rfasper_2754 .

Pavlović, D., Pavlović, A., Komazec, Z., Marinković, D., Rapaić, D., Nedović, G., Kulić, M., Aleksić, V., Sretenović, I.,& Maksić, J.. (2016). Brain plasticity: developmental and clinical aspects of importance for early intervention. in Thematic Collection of International Importance- Early Intervention in Special Education and Rehabilitation“, Beograd, Srbija, 2016.
University of Belgrade, Faculty of Special Education and Rehabilitation, Serbia /
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju., 43-62.
https://hdl.handle.net/21.15107/rcub_rfasper_2524

Pavlović D, Pavlović A, Komazec Z, Marinković D, Rapaić D, Nedović G, Kulić M, Aleksić V, Sretenović I, Maksić J. Brain plasticity: developmental and clinical aspects of importance for early intervention. in Thematic Collection of International Importance- Early Intervention in Special Education and Rehabilitation“, Beograd, Srbija, 2016.. 2016;:43-62.
https://hdl.handle.net/21.15107/rcub_rfasper_2524 .

Pavlović, Dragan, Pavlović, Aleksandra, Komazec, Zoran, Marinković, Dragan, Rapaić, Dragan, Nedović, Goran, Kulić, Milan, Aleksić, Vuk, Sretenović, Ivana, Maksić, Jasmina, "Brain plasticity: developmental and clinical aspects of importance for early intervention" in Thematic Collection of International Importance- Early Intervention in Special Education and Rehabilitation“, Beograd, Srbija, 2016. (2016):43-62,
https://hdl.handle.net/21.15107/rcub_rfasper_2524 .

TY  - CONF
AU  - Mitrović-Milosavljević, Mirjana
AU  - Maksić, Jasmina
AU  - Mitrović, Predrag
AU  - Mitrović, Miodrag
PY  - 2016
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/2496
T1  - Komparacija prednosti i nedostataka fluoresceinske angiografije i fundus autofluorescencije u dijagnostici oboljenja očnog dna
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_2496
ER  - 

@conference{
author = "Mitrović-Milosavljević, Mirjana and Maksić, Jasmina and Mitrović, Predrag and Mitrović, Miodrag",
year = "2016",
title = "Komparacija prednosti i nedostataka fluoresceinske angiografije i fundus autofluorescencije u dijagnostici oboljenja očnog dna",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_2496"
}

Mitrović-Milosavljević, M., Maksić, J., Mitrović, P.,& Mitrović, M.. (2016). Komparacija prednosti i nedostataka fluoresceinske angiografije i fundus autofluorescencije u dijagnostici oboljenja očnog dna. .
https://hdl.handle.net/21.15107/rcub_rfasper_2496

Mitrović-Milosavljević M, Maksić J, Mitrović P, Mitrović M. Komparacija prednosti i nedostataka fluoresceinske angiografije i fundus autofluorescencije u dijagnostici oboljenja očnog dna. 2016;.
https://hdl.handle.net/21.15107/rcub_rfasper_2496 .

Mitrović-Milosavljević, Mirjana, Maksić, Jasmina, Mitrović, Predrag, Mitrović, Miodrag, "Komparacija prednosti i nedostataka fluoresceinske angiografije i fundus autofluorescencije u dijagnostici oboljenja očnog dna" (2016),
https://hdl.handle.net/21.15107/rcub_rfasper_2496 .

TY  - JOUR
AU  - Mijatović, Luka
AU  - Rapaić, Dragan
AU  - Ilić-Stošović, Danijela
AU  - Ilić, Snežana
AU  - Maksić, Jasmina
AU  - Marinković, Dragan
PY  - 2015
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/935
AB  - Hair loss in children hospitalized for malignant diseases treatment is most visible manifestation that dramatically influences their later self-confidence. Further, this could strongly affect possible development of psychic crisis. Scientific researches on motivational aspects of involvement for provision of non-formal categories of support to patients with malignant diseases are infrequent. Therefore, this topic should be more investigated in future. Humanitarian initiative 'Kilometer of hair', as unique philanthropic activity at territory of Serbia in year 2015, had as an aim to collect hair for preparation of wigs for children treated for malignant diseases. The main question in our study was definition of key motives for hair donation. We classified three main groups of motives. Altruism was detected as motivation in almost one-half of all interviewed subjects. Second group included almost one third of all subjects and their main motivation for hair donation was empathy. The smallest percentage of hair donors was motivated with some kind of public approval and welcome from society. We believe that further research in this area could give some directives for program planning of further improvement of social awareness for psychosocial support to children with malignant diseases.
AB  - Kod dece koja su hospitalizovana zbog tretmana malignih bolesti gubitak kose je najvidljivija spoljna manifestacija i ona dramatično utiče na njihovo dalje samopouzdanje te samim tim i na eventualni razvoj psihičke krize. Istraživanja motivacionih aspekata uključivanja radi pružanja neformalnih oblika podrške obolelima od malignih bolesti su deficitarna i zahtevaju dalju pažnju. Humanitarna inicijativa 'Kilometar kose', kao jedinstvena dobrotvorna akcija na teritoriji Srbije tokom 2015, imala je za cilj prikupljanje kose i izradu perika za decu obolelu od malignih bolesti. Osnovno pitanje kojim se ovaj rad bavi odnosi se na otkrivanje ključnih motiva za donaciju kose. U prikazanom istraživanju izdvojile su se tri najvažnije grupe motiva. Prva se prepoznaje kao altruizam i detektovana je kod skoro polovine ispitanika obuhvaćenih istraživanjem. Druga grupa obuhvatila je skoro trećinu ispitanika i bila je pokrenuta empatijom prema oboleloj deci. Najmanji procenat ispitanika rukovodio se motivima za koje bismo mogli reći da obezbeđuju neku vrstu odobravanja i poželjnosti u društvu. Dalja kontinuirana istraživanjima u ovoj oblasti sa temeljnijom proverom motivacije obezbedila bi građu za planiranje programa za podizanje društvene svesti o važnosti pružanja psihosocijalne podrške obolelima od malignih bolesti.
PB  - Kliničko-bolnički centar Zemun, Beograd
T2  - Materia medica
T1  - Investigation of motivation for providing support to children with malignant diseases
T1  - Ispitivanje motivacije za pružanje podrške deci oboleloj od malignih bolesti
EP  - 1313
IS  - 2
SP  - 1305
VL  - 31
DO  - 10.5937/matmed1502305M
ER  - 

@article{
author = "Mijatović, Luka and Rapaić, Dragan and Ilić-Stošović, Danijela and Ilić, Snežana and Maksić, Jasmina and Marinković, Dragan",
year = "2015",
abstract = "Hair loss in children hospitalized for malignant diseases treatment is most visible manifestation that dramatically influences their later self-confidence. Further, this could strongly affect possible development of psychic crisis. Scientific researches on motivational aspects of involvement for provision of non-formal categories of support to patients with malignant diseases are infrequent. Therefore, this topic should be more investigated in future. Humanitarian initiative 'Kilometer of hair', as unique philanthropic activity at territory of Serbia in year 2015, had as an aim to collect hair for preparation of wigs for children treated for malignant diseases. The main question in our study was definition of key motives for hair donation. We classified three main groups of motives. Altruism was detected as motivation in almost one-half of all interviewed subjects. Second group included almost one third of all subjects and their main motivation for hair donation was empathy. The smallest percentage of hair donors was motivated with some kind of public approval and welcome from society. We believe that further research in this area could give some directives for program planning of further improvement of social awareness for psychosocial support to children with malignant diseases., Kod dece koja su hospitalizovana zbog tretmana malignih bolesti gubitak kose je najvidljivija spoljna manifestacija i ona dramatično utiče na njihovo dalje samopouzdanje te samim tim i na eventualni razvoj psihičke krize. Istraživanja motivacionih aspekata uključivanja radi pružanja neformalnih oblika podrške obolelima od malignih bolesti su deficitarna i zahtevaju dalju pažnju. Humanitarna inicijativa 'Kilometar kose', kao jedinstvena dobrotvorna akcija na teritoriji Srbije tokom 2015, imala je za cilj prikupljanje kose i izradu perika za decu obolelu od malignih bolesti. Osnovno pitanje kojim se ovaj rad bavi odnosi se na otkrivanje ključnih motiva za donaciju kose. U prikazanom istraživanju izdvojile su se tri najvažnije grupe motiva. Prva se prepoznaje kao altruizam i detektovana je kod skoro polovine ispitanika obuhvaćenih istraživanjem. Druga grupa obuhvatila je skoro trećinu ispitanika i bila je pokrenuta empatijom prema oboleloj deci. Najmanji procenat ispitanika rukovodio se motivima za koje bismo mogli reći da obezbeđuju neku vrstu odobravanja i poželjnosti u društvu. Dalja kontinuirana istraživanjima u ovoj oblasti sa temeljnijom proverom motivacije obezbedila bi građu za planiranje programa za podizanje društvene svesti o važnosti pružanja psihosocijalne podrške obolelima od malignih bolesti.",
publisher = "Kliničko-bolnički centar Zemun, Beograd",
journal = "Materia medica",
title = "Investigation of motivation for providing support to children with malignant diseases, Ispitivanje motivacije za pružanje podrške deci oboleloj od malignih bolesti",
pages = "1313-1305",
number = "2",
volume = "31",
doi = "10.5937/matmed1502305M"
}

Mijatović, L., Rapaić, D., Ilić-Stošović, D., Ilić, S., Maksić, J.,& Marinković, D.. (2015). Investigation of motivation for providing support to children with malignant diseases. in Materia medica
Kliničko-bolnički centar Zemun, Beograd., 31(2), 1305-1313.
https://doi.org/10.5937/matmed1502305M

Mijatović L, Rapaić D, Ilić-Stošović D, Ilić S, Maksić J, Marinković D. Investigation of motivation for providing support to children with malignant diseases. in Materia medica. 2015;31(2):1305-1313.
doi:10.5937/matmed1502305M .

Mijatović, Luka, Rapaić, Dragan, Ilić-Stošović, Danijela, Ilić, Snežana, Maksić, Jasmina, Marinković, Dragan, "Investigation of motivation for providing support to children with malignant diseases" in Materia medica, 31, no. 2 (2015):1305-1313,
https://doi.org/10.5937/matmed1502305M . .

TY  - CONF
AU  - Ilić-Stošović, Danijela
AU  - Nikolić, Snežana
AU  - Maksić, Jasmina
PY  - 2014
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4259
AB  - Kreiranje Individualnih obrazovnih planova (IOP), u našoj zemlji,
nema jasno izrađenu metodologiju, a zakonodavna osnova nije dovoljno
precizna i uvodi veliki broj dilema, kako kod nastavnika redovne nastave,
tako i kod defektologa. U radu se analiziraju odgovori nastavnika predmetne
nastave i defektologa, u vezi sa osnovama izrade Individualnih obrazovnih
planova, sa ciljem da se ukaže na značaj izrade precizne metodologije za
kreiranje ovog dokumenta. Uzorak za istraživanje činilo je 72 defektologa i
24 nastavnika predmetne nastave, zaposlenih u 31 osnovnoj školi u Srbiji. U
istraživanju je korišćen upitnik Likertovog tipa, sastavljen od sedam tvrdnji.
Tvrdnje su se odnosile na definisanje svrhe IOP-a, potrebe za kreiranjem,
ciljeve, neophodne članove tima, kao i ocenjivanje učenika, prema ovom
dokumentu. Pored distribucije odgovora, praćena je i korelacija odgovora
nastavnika predmetne nastave i defektologa, kao i doslednost u odgovorima
koji su se ticali definisanja svrhe IOP-a, za koga se on izrađuje, prioriteta
u postavljanju ciljeva i ocenjivanja. Statističke analize ukazuju da 13,54%
ispitanika nije moglo da odgovori na svaku od zadatih tvrdnji. Najveće nedoumice
odnosile su se na tvrdnje koje su se ticale prioriteta u kreiranju
IOP-a, kao i tvrdnje da li defektolog može da realizuje nastavu prema IOP-u
u redovnoj školi (po 20,8% ispitanika je bez odgovora). Beleži se statistički
visoko značajna razlika u odgovorima nastavnika predmetne nastave i defektologa
(p=0,000) na tvrdnje da se IOP, bez razlike, izrađuje za svu decu
sa smetnjama u učenju i razvoju, da je akademsko postignuće prioritetni cilj
u IOP-u i na tvrdnju da nastavu za učenika koji radi prema IOP-u realizuje
isključivo nastavnik redovne nastave. Ne beleži se dosledan stav u pogledu
definisanja svrhe IOP-a i ostalih praćenih varijabli.Rezultati jasno ukazuju
na, još uvek, prisutne probleme u razumevanju i tumačenju izrade i svrhe
individualnog obrazovnog plana, kao i na neophodnost kreiranja precizne
metodologije njegove izrade i implementacije.
AB  - The precise methodology for creating Individual Education Programs (IEP) still
missing in our country. Thus, teachers in regular classroms, as much as special education
teachers cope with many dificulties in understanding the law and creating IEP. The
answers of regular classrom professors and special education teachers about the bases
of Individual Education Plan`s creating process were analised in this paper. Necesisity
of good and precise methodology for creating IEP were pointed out.Seventytwo special
education teachers and 24 professors from 31 Elementary schools in Serbia answered
on seven items structered as claims. The claims were related to defining the aim of IEP,
reasons for its creating, structure of a team, and assessment in IEP. We were interested in
distribution of answeres as much as in correlation between answers of special education
teachers and professors, but in concistency of respons between claim about definig the
aim of IEP and following claims: Do we create IEP for all children with special needs,
without exceptions; What is priority to be done in IEP; Is mark „excellent five“ allowed
if child has IEP. According to statistic, 13,54% of a sample, in averige, colud not give the
answer on each claim. The most dificulties were in answering the claim about priority
to be done in IEP, and about the possibility for special education teachers to realise class
in regular schools (20,8% of sample colud not answer the claim). There are high statistic
diferences between special education teacher and professors (p=0,000) when answering
the claim about creatin IEP for all children with special needs; about priority to be done
in IEP; and when answering the claim about possibility for special education teachers to
realise class school.s. There isn`t concistency of respons between claim about defining
the aim of IEP and all other variables. The results of this research confirm hypothesis
that the legal bases for creating IEP in Republic of Serbia must be reconstructed. At the
same time, precise metgodology base for developmenting IEP must be done.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
T1  - Izrada individualnih obrazovnih planova: da li nam je zakon razumljiv
T1  - Creating of individual education programs: did we understand the law?
EP  - 283
SP  - 277
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4259
ER  - 

@conference{
author = "Ilić-Stošović, Danijela and Nikolić, Snežana and Maksić, Jasmina",
year = "2014",
abstract = "Kreiranje Individualnih obrazovnih planova (IOP), u našoj zemlji,
nema jasno izrađenu metodologiju, a zakonodavna osnova nije dovoljno
precizna i uvodi veliki broj dilema, kako kod nastavnika redovne nastave,
tako i kod defektologa. U radu se analiziraju odgovori nastavnika predmetne
nastave i defektologa, u vezi sa osnovama izrade Individualnih obrazovnih
planova, sa ciljem da se ukaže na značaj izrade precizne metodologije za
kreiranje ovog dokumenta. Uzorak za istraživanje činilo je 72 defektologa i
24 nastavnika predmetne nastave, zaposlenih u 31 osnovnoj školi u Srbiji. U
istraživanju je korišćen upitnik Likertovog tipa, sastavljen od sedam tvrdnji.
Tvrdnje su se odnosile na definisanje svrhe IOP-a, potrebe za kreiranjem,
ciljeve, neophodne članove tima, kao i ocenjivanje učenika, prema ovom
dokumentu. Pored distribucije odgovora, praćena je i korelacija odgovora
nastavnika predmetne nastave i defektologa, kao i doslednost u odgovorima
koji su se ticali definisanja svrhe IOP-a, za koga se on izrađuje, prioriteta
u postavljanju ciljeva i ocenjivanja. Statističke analize ukazuju da 13,54%
ispitanika nije moglo da odgovori na svaku od zadatih tvrdnji. Najveće nedoumice
odnosile su se na tvrdnje koje su se ticale prioriteta u kreiranju
IOP-a, kao i tvrdnje da li defektolog može da realizuje nastavu prema IOP-u
u redovnoj školi (po 20,8% ispitanika je bez odgovora). Beleži se statistički
visoko značajna razlika u odgovorima nastavnika predmetne nastave i defektologa
(p=0,000) na tvrdnje da se IOP, bez razlike, izrađuje za svu decu
sa smetnjama u učenju i razvoju, da je akademsko postignuće prioritetni cilj
u IOP-u i na tvrdnju da nastavu za učenika koji radi prema IOP-u realizuje
isključivo nastavnik redovne nastave. Ne beleži se dosledan stav u pogledu
definisanja svrhe IOP-a i ostalih praćenih varijabli.Rezultati jasno ukazuju
na, još uvek, prisutne probleme u razumevanju i tumačenju izrade i svrhe
individualnog obrazovnog plana, kao i na neophodnost kreiranja precizne
metodologije njegove izrade i implementacije., The precise methodology for creating Individual Education Programs (IEP) still
missing in our country. Thus, teachers in regular classroms, as much as special education
teachers cope with many dificulties in understanding the law and creating IEP. The
answers of regular classrom professors and special education teachers about the bases
of Individual Education Plan`s creating process were analised in this paper. Necesisity
of good and precise methodology for creating IEP were pointed out.Seventytwo special
education teachers and 24 professors from 31 Elementary schools in Serbia answered
on seven items structered as claims. The claims were related to defining the aim of IEP,
reasons for its creating, structure of a team, and assessment in IEP. We were interested in
distribution of answeres as much as in correlation between answers of special education
teachers and professors, but in concistency of respons between claim about definig the
aim of IEP and following claims: Do we create IEP for all children with special needs,
without exceptions; What is priority to be done in IEP; Is mark „excellent five“ allowed
if child has IEP. According to statistic, 13,54% of a sample, in averige, colud not give the
answer on each claim. The most dificulties were in answering the claim about priority
to be done in IEP, and about the possibility for special education teachers to realise class
in regular schools (20,8% of sample colud not answer the claim). There are high statistic
diferences between special education teacher and professors (p=0,000) when answering
the claim about creatin IEP for all children with special needs; about priority to be done
in IEP; and when answering the claim about possibility for special education teachers to
realise class school.s. There isn`t concistency of respons between claim about defining
the aim of IEP and all other variables. The results of this research confirm hypothesis
that the legal bases for creating IEP in Republic of Serbia must be reconstructed. At the
same time, precise metgodology base for developmenting IEP must be done.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014",
title = "Izrada individualnih obrazovnih planova: da li nam je zakon razumljiv, Creating of individual education programs: did we understand the law?",
pages = "283-277",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4259"
}

Ilić-Stošović, D., Nikolić, S.,& Maksić, J.. (2014). Izrada individualnih obrazovnih planova: da li nam je zakon razumljiv. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 277-283.
https://hdl.handle.net/21.15107/rcub_rfasper_4259

Ilić-Stošović D, Nikolić S, Maksić J. Izrada individualnih obrazovnih planova: da li nam je zakon razumljiv. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014. 2014;:277-283.
https://hdl.handle.net/21.15107/rcub_rfasper_4259 .

Ilić-Stošović, Danijela, Nikolić, Snežana, Maksić, Jasmina, "Izrada individualnih obrazovnih planova: da li nam je zakon razumljiv" in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014 (2014):277-283,
https://hdl.handle.net/21.15107/rcub_rfasper_4259 .

TY  - CONF
AU  - Novaković, Ivana
AU  - Maksić, Jasmina
PY  - 2014
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4249
AB  - U cilju rane dijagnostike i prevencije naslednih poremećaja, proteklih
decenija su na raspolaganju bile različite metode. Analize genetičkog materijala
su se kretale od klasične citogenetičke obrade kariotipa radi uočavanja
numeričkih i strukturnih aberacija hromozoma, do najfinijih ispitivanja za
detektuju genskih mutacija na molekularnom nivou. Poslednjih godina razvijaju
se potpuno nove metode za brzu, efikasnu i dostupnu analizu naslednog
materijala, koje su poznate kao “next generation sequencing” (NGS)
ili nova generacija metoda za sekvenciranje DNK. Ove metode omogućavaju
ispitivanje ne samo pojedinačnih gena ili delova gena nego i većeg broja
segmenata, sve do kompletne nasledne osnove tj. čitavog genoma čoveka.
Primena ovakvog pristupa dovodi do prave tihe revolucije u medicinskoj
genetici i disciplinama sa kojima ona sarađuje, nagoveštavajući promenu
u konceptu dijagnostike naslednih poremećaja. U prenatalnoj dijagnostici
NGS je već našla primenu u potpuno neinvazivnoj detekciji najčešćih hromozomskih
aberacija (Daunov, Edvardsov, Patau sindrom, aberacije polnih
hromozoma) analizom fetalnih ćelija prisutnih u krvi majke. Test NIFTY
već je dostupan i trudnicama u našoj sredini. U postnatalnom periodu NGS
se koristi za ispitivanje odabranih panela gena, ili, po potrebi, čitavog genoma/
egzoma, sve sa ciljem što efikasnije dijagnostike pre svega monogenskih,
ali i oligogenskih i poligenskih bolesti.
Predlaže se čak da analiza kompletnog genoma postane deo neonatalnog
skriniga, ali za sada to nije prihvaćeno. Nesumnjivo je da rezultati NGS
donose veliki napredak medicinsko − genetičkoj praksi, ali i rađaju nove
etičke dileme u oblasti rane detekcije naslednih poremećaja i intervencije
kod ovih stanja.
AB  - In order to early diagnostics and prevention of hereditary disorders, past decades
have been brought different methods. Analysis of genetic material ranged from
classical cytogentic karyotype analysis for processing numerical and structural
chromosomalaberratios, by most sophisticated examination of manor gene mutation
on molecular level. In recent years develop completely new methods for rapid, efficient
and publicly available analysis of inheritance material, that are known as the “next”
button generation sequencing” (NGS). These methods allow for examination not only
individual genes or parts of genes but also a larger number of segments, all up to complete
inherited basis i.e. the entire human genome research. Implementation of this approach
leads to genuine silent revolution in medical genetics and disciplines with which it cooperate,
suggesting a change in the concept of heritage disorders diagnosing. In prenatal
diagnostics NGS has already found application in completely noninvsive detection
of chromosomal aberrations (Down, Edwards, Patau syndrome, sex chromosomes
aberration) by analysis of fetal cells present in mother’s blood. Such tests (i.e. NIFTY)
are already available and for pregnant women in our country. In postnatal period NGS
is used for the examination of selected genes by gene panels, or, if necessary, the entire
genome/exome research, all with the aim as efficient diagnostics primarily monogenic,
but oligogenic and polygenic diseases also. It is proposed that the analysis of even
complete genome become part of neonatal screening, but for now it is not accepted yet. It
is undeniable that the results of NGS make a great progress in medical − genetic practice,
but gained new ethical dilemmas in the field of early detection of hereditary disorders
and intervention in these situations
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
T1  - Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja
T1  - Implementation of the next generation sequencing (ngs) methods in early diagnosis of heritable diseases
EP  - 39
SP  - 35
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4249
ER  - 

@conference{
author = "Novaković, Ivana and Maksić, Jasmina",
year = "2014",
abstract = "U cilju rane dijagnostike i prevencije naslednih poremećaja, proteklih
decenija su na raspolaganju bile različite metode. Analize genetičkog materijala
su se kretale od klasične citogenetičke obrade kariotipa radi uočavanja
numeričkih i strukturnih aberacija hromozoma, do najfinijih ispitivanja za
detektuju genskih mutacija na molekularnom nivou. Poslednjih godina razvijaju
se potpuno nove metode za brzu, efikasnu i dostupnu analizu naslednog
materijala, koje su poznate kao “next generation sequencing” (NGS)
ili nova generacija metoda za sekvenciranje DNK. Ove metode omogućavaju
ispitivanje ne samo pojedinačnih gena ili delova gena nego i većeg broja
segmenata, sve do kompletne nasledne osnove tj. čitavog genoma čoveka.
Primena ovakvog pristupa dovodi do prave tihe revolucije u medicinskoj
genetici i disciplinama sa kojima ona sarađuje, nagoveštavajući promenu
u konceptu dijagnostike naslednih poremećaja. U prenatalnoj dijagnostici
NGS je već našla primenu u potpuno neinvazivnoj detekciji najčešćih hromozomskih
aberacija (Daunov, Edvardsov, Patau sindrom, aberacije polnih
hromozoma) analizom fetalnih ćelija prisutnih u krvi majke. Test NIFTY
već je dostupan i trudnicama u našoj sredini. U postnatalnom periodu NGS
se koristi za ispitivanje odabranih panela gena, ili, po potrebi, čitavog genoma/
egzoma, sve sa ciljem što efikasnije dijagnostike pre svega monogenskih,
ali i oligogenskih i poligenskih bolesti.
Predlaže se čak da analiza kompletnog genoma postane deo neonatalnog
skriniga, ali za sada to nije prihvaćeno. Nesumnjivo je da rezultati NGS
donose veliki napredak medicinsko − genetičkoj praksi, ali i rađaju nove
etičke dileme u oblasti rane detekcije naslednih poremećaja i intervencije
kod ovih stanja., In order to early diagnostics and prevention of hereditary disorders, past decades
have been brought different methods. Analysis of genetic material ranged from
classical cytogentic karyotype analysis for processing numerical and structural
chromosomalaberratios, by most sophisticated examination of manor gene mutation
on molecular level. In recent years develop completely new methods for rapid, efficient
and publicly available analysis of inheritance material, that are known as the “next”
button generation sequencing” (NGS). These methods allow for examination not only
individual genes or parts of genes but also a larger number of segments, all up to complete
inherited basis i.e. the entire human genome research. Implementation of this approach
leads to genuine silent revolution in medical genetics and disciplines with which it cooperate,
suggesting a change in the concept of heritage disorders diagnosing. In prenatal
diagnostics NGS has already found application in completely noninvsive detection
of chromosomal aberrations (Down, Edwards, Patau syndrome, sex chromosomes
aberration) by analysis of fetal cells present in mother’s blood. Such tests (i.e. NIFTY)
are already available and for pregnant women in our country. In postnatal period NGS
is used for the examination of selected genes by gene panels, or, if necessary, the entire
genome/exome research, all with the aim as efficient diagnostics primarily monogenic,
but oligogenic and polygenic diseases also. It is proposed that the analysis of even
complete genome become part of neonatal screening, but for now it is not accepted yet. It
is undeniable that the results of NGS make a great progress in medical − genetic practice,
but gained new ethical dilemmas in the field of early detection of hereditary disorders
and intervention in these situations",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014",
title = "Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja, Implementation of the next generation sequencing (ngs) methods in early diagnosis of heritable diseases",
pages = "39-35",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4249"
}

Novaković, I.,& Maksić, J.. (2014). Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 35-39.
https://hdl.handle.net/21.15107/rcub_rfasper_4249

Novaković I, Maksić J. Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014. 2014;:35-39.
https://hdl.handle.net/21.15107/rcub_rfasper_4249 .

Novaković, Ivana, Maksić, Jasmina, "Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja" in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014 (2014):35-39,
https://hdl.handle.net/21.15107/rcub_rfasper_4249 .

TY  - JOUR
AU  - Buha, Nataša
AU  - Gligorović, Milica
AU  - Maksić, Jasmina
PY  - 2014
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/819
AB  - Challenging behavior in individuals with mental retardation (MR) is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible) problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in the creation of targeted treatment strategies for individuals with a specific genetic syndrome.
AB  - Problemi ponašanja kod osoba s mentalnom retardacijom (MR) su relativno česti i značajna su prepreka njihovom adaptivnom funkcionisanju. Učestalost, specifični oblici i manifestacije problema ponašanja mogu zavisiti od niza ličnih i činilaca sredine. U razmatranju etiologije problema ponašanja i psihopatologije kod osoba sa MR preovladava nekoliko teorijskih modela: bihejvioralni, razvojni, sociokulturološki i biološki. Biološki model ističe fiziološke, biohemijske i genetske faktore kao moguće uzročnike problema ponašanja. Napretkom na polju genetike i neuronauka otvorila se mogućnost proučavanja i otkrivanja neurobioloških osnova fenotipskih karakteristika. Kod genetskih sindroma praćenih MR može da se ispolji određena grupa problema i poremećaja koji čine njihov bihejvioralni fenotip. Cilj ovog rada je prikaz problema ponašanja koji se ispoljavaju kod najčešće proučavanih genetskih sindroma: Daunovog (Down), Fragilnog iks (X), Vilijemsovog (Williams), Prader-Vilijevog (Prader-Willi) i Angelmanovog (Angelman) sindroma. Koncept bihejvioralnog fenotipa podrazumeva veću verovatnoću ispoljavanja specifičnih razvojnih odlika i određenog ponašanja kod osoba s konkretnim genetskim sindromom. Iako je za opisane genetske sindrome tipična određena grupa (mogućih) problema i poremećaja koji sačinjavaju njihov bihejvioralni profil, vezu između genetike i ponašanja uvek treba sagledavati kroz probabilističku dimenziju. Probabilistički koncept uzima u obzir mogućnost unutarsindromske varijabilnosti u nastanku, intenzitetu i vremenu pojave bihejvioralnih karakteristika, pri čemu je ta varijabilnost veća što je manja specifičnost genetskog sindroma. Prepoznavanje specifičnog obrasca ponašanja može biti veoma važno za proces ranog dijagnostikovanja i prognoze. Osim toga, poznavanje bihejvioralnog fenotipa može da bude putokaz za kreiranje ciljanih strategija lečenja osoba s određenim genetskim sindromom.
PB  - Srpsko lekarsko društvo, Beograd
T2  - Srpski arhiv za celokupno lekarstvo
T1  - Challenging behavior: Behavioral phenotypes of some genetic syndromes
T1  - Problemi ponašanja - bihejvioralni fenotipovi nekih genetskih sindroma
EP  - 627
IS  - 9-10
SP  - 621
VL  - 142
DO  - 10.2298/SARH1410621B
ER  - 

@article{
author = "Buha, Nataša and Gligorović, Milica and Maksić, Jasmina",
year = "2014",
abstract = "Challenging behavior in individuals with mental retardation (MR) is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible) problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in the creation of targeted treatment strategies for individuals with a specific genetic syndrome., Problemi ponašanja kod osoba s mentalnom retardacijom (MR) su relativno česti i značajna su prepreka njihovom adaptivnom funkcionisanju. Učestalost, specifični oblici i manifestacije problema ponašanja mogu zavisiti od niza ličnih i činilaca sredine. U razmatranju etiologije problema ponašanja i psihopatologije kod osoba sa MR preovladava nekoliko teorijskih modela: bihejvioralni, razvojni, sociokulturološki i biološki. Biološki model ističe fiziološke, biohemijske i genetske faktore kao moguće uzročnike problema ponašanja. Napretkom na polju genetike i neuronauka otvorila se mogućnost proučavanja i otkrivanja neurobioloških osnova fenotipskih karakteristika. Kod genetskih sindroma praćenih MR može da se ispolji određena grupa problema i poremećaja koji čine njihov bihejvioralni fenotip. Cilj ovog rada je prikaz problema ponašanja koji se ispoljavaju kod najčešće proučavanih genetskih sindroma: Daunovog (Down), Fragilnog iks (X), Vilijemsovog (Williams), Prader-Vilijevog (Prader-Willi) i Angelmanovog (Angelman) sindroma. Koncept bihejvioralnog fenotipa podrazumeva veću verovatnoću ispoljavanja specifičnih razvojnih odlika i određenog ponašanja kod osoba s konkretnim genetskim sindromom. Iako je za opisane genetske sindrome tipična određena grupa (mogućih) problema i poremećaja koji sačinjavaju njihov bihejvioralni profil, vezu između genetike i ponašanja uvek treba sagledavati kroz probabilističku dimenziju. Probabilistički koncept uzima u obzir mogućnost unutarsindromske varijabilnosti u nastanku, intenzitetu i vremenu pojave bihejvioralnih karakteristika, pri čemu je ta varijabilnost veća što je manja specifičnost genetskog sindroma. Prepoznavanje specifičnog obrasca ponašanja može biti veoma važno za proces ranog dijagnostikovanja i prognoze. Osim toga, poznavanje bihejvioralnog fenotipa može da bude putokaz za kreiranje ciljanih strategija lečenja osoba s određenim genetskim sindromom.",
publisher = "Srpsko lekarsko društvo, Beograd",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "Challenging behavior: Behavioral phenotypes of some genetic syndromes, Problemi ponašanja - bihejvioralni fenotipovi nekih genetskih sindroma",
pages = "627-621",
number = "9-10",
volume = "142",
doi = "10.2298/SARH1410621B"
}

Buha, N., Gligorović, M.,& Maksić, J.. (2014). Challenging behavior: Behavioral phenotypes of some genetic syndromes. in Srpski arhiv za celokupno lekarstvo
Srpsko lekarsko društvo, Beograd., 142(9-10), 621-627.
https://doi.org/10.2298/SARH1410621B

Buha N, Gligorović M, Maksić J. Challenging behavior: Behavioral phenotypes of some genetic syndromes. in Srpski arhiv za celokupno lekarstvo. 2014;142(9-10):621-627.
doi:10.2298/SARH1410621B .

Buha, Nataša, Gligorović, Milica, Maksić, Jasmina, "Challenging behavior: Behavioral phenotypes of some genetic syndromes" in Srpski arhiv za celokupno lekarstvo, 142, no. 9-10 (2014):621-627,
https://doi.org/10.2298/SARH1410621B . .

TY  - CONF
AU  - Maksić, Jasmina
AU  - Ninković, Dragan
AU  - Ilić-Stošović, Danijela
PY  - 2012
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4739
AB  - Genetska savetovanje je proces u kome pojedinac ili članovi porodice dobijaju
adekvatnu genetsku informaciju u vezi sa razvojem i/ili prenošenjem naslednih poremećaja.
Genetska savetovanje vodi tim iskusnih stručnjaka - lekar specijalista (pedijatar-
klinički genetičar, ginekolog-akušer i dr.), molekularni biolog i ostali članovi
tima (specijalni edukator, psiholog, socijalni radnik). Postupak genetske konsultacije
podrazumeva genetsku evaluaciju kojom se postavlja ili potvrđuje dijagnoza, a zatim,
na osnovu genetskog modela za da tu bolest, daju se iscrpne informacije i predlažu moguća
rešenja. Cilj genetskog savetovanja je pružanje pomoći, pojedincu ili porodici, u
donošenju pravilne odluke o potomstvu, posebno nakon rođenja deteta obolelog od
genetski uslovljene bolesti. Uz poštovanje moralnih vrednosti društva kome pojedinac
ili porodica pripadaju, treba slediti put kojim se obezbeđuje svrsishodno genetska savetovanje,
a to nije laka odluka. I pored problema koji mogu da se jave tokom genetskog
savetovanja, činjenica je da je ono značajan vid zaštite zdravlja jedne nacije. Takođe,
genetska savetovanje daje mogućnost planiranja porodice u odnosu na eventualni rizik
od genetske bolesti.
AB  - Genetic counseling is a process in which individua/ or family members receive adequate
genetic information about development and/or transfer genetic disorders. Genetic counseling
is /ead by team of experienced experts - medica/ specialist (pediatrician-c/inical geneticist,
gyneco/ogist-obstretician, etc), molecular biologist and other members of the team (special
educators, psychologists, social worker). The procedure of genetic counseling means genetic
evaluation by which the diagnosis is reached or confirmed, and then, based on the genetic model
for that disease, plenty of information is given and possible solutions are suggested. The go a/
of genetic counse/ing is to give help to an individua/ or family to reach proper decision about
offspring, especially after having a child with a genetic disease. Respecting moral values of the
society that individua/ or family belongs to, one shou/d go for meaningful genetic counseling,
which is not an easy task. Apart from problems that can emerge during gene tic counseling, it
stil/ remains an important form of health protection in a nation. ft a/so provides the possibility
for family planning according to supposed risk of a genetic disease.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova – 6. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 14–16.09.2012
T1  - Genetsko savetovanje - savremeni oblik zaštite zdravlja
T1  - Genetic counseling - a contemporary form of Health protection
EP  - 90
SP  - 86
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4739
ER  - 

@conference{
author = "Maksić, Jasmina and Ninković, Dragan and Ilić-Stošović, Danijela",
year = "2012",
abstract = "Genetska savetovanje je proces u kome pojedinac ili članovi porodice dobijaju
adekvatnu genetsku informaciju u vezi sa razvojem i/ili prenošenjem naslednih poremećaja.
Genetska savetovanje vodi tim iskusnih stručnjaka - lekar specijalista (pedijatar-
klinički genetičar, ginekolog-akušer i dr.), molekularni biolog i ostali članovi
tima (specijalni edukator, psiholog, socijalni radnik). Postupak genetske konsultacije
podrazumeva genetsku evaluaciju kojom se postavlja ili potvrđuje dijagnoza, a zatim,
na osnovu genetskog modela za da tu bolest, daju se iscrpne informacije i predlažu moguća
rešenja. Cilj genetskog savetovanja je pružanje pomoći, pojedincu ili porodici, u
donošenju pravilne odluke o potomstvu, posebno nakon rođenja deteta obolelog od
genetski uslovljene bolesti. Uz poštovanje moralnih vrednosti društva kome pojedinac
ili porodica pripadaju, treba slediti put kojim se obezbeđuje svrsishodno genetska savetovanje,
a to nije laka odluka. I pored problema koji mogu da se jave tokom genetskog
savetovanja, činjenica je da je ono značajan vid zaštite zdravlja jedne nacije. Takođe,
genetska savetovanje daje mogućnost planiranja porodice u odnosu na eventualni rizik
od genetske bolesti., Genetic counseling is a process in which individua/ or family members receive adequate
genetic information about development and/or transfer genetic disorders. Genetic counseling
is /ead by team of experienced experts - medica/ specialist (pediatrician-c/inical geneticist,
gyneco/ogist-obstretician, etc), molecular biologist and other members of the team (special
educators, psychologists, social worker). The procedure of genetic counseling means genetic
evaluation by which the diagnosis is reached or confirmed, and then, based on the genetic model
for that disease, plenty of information is given and possible solutions are suggested. The go a/
of genetic counse/ing is to give help to an individua/ or family to reach proper decision about
offspring, especially after having a child with a genetic disease. Respecting moral values of the
society that individua/ or family belongs to, one shou/d go for meaningful genetic counseling,
which is not an easy task. Apart from problems that can emerge during gene tic counseling, it
stil/ remains an important form of health protection in a nation. ft a/so provides the possibility
for family planning according to supposed risk of a genetic disease.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova – 6. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 14–16.09.2012",
title = "Genetsko savetovanje - savremeni oblik zaštite zdravlja, Genetic counseling - a contemporary form of Health protection",
pages = "90-86",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4739"
}

Maksić, J., Ninković, D.,& Ilić-Stošović, D.. (2012). Genetsko savetovanje - savremeni oblik zaštite zdravlja. in Zbornik radova – 6. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 14–16.09.2012
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 86-90.
https://hdl.handle.net/21.15107/rcub_rfasper_4739

Maksić J, Ninković D, Ilić-Stošović D. Genetsko savetovanje - savremeni oblik zaštite zdravlja. in Zbornik radova – 6. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 14–16.09.2012. 2012;:86-90.
https://hdl.handle.net/21.15107/rcub_rfasper_4739 .

Maksić, Jasmina, Ninković, Dragan, Ilić-Stošović, Danijela, "Genetsko savetovanje - savremeni oblik zaštite zdravlja" in Zbornik radova – 6. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 14–16.09.2012 (2012):86-90,
https://hdl.handle.net/21.15107/rcub_rfasper_4739 .

TY  - CONF
AU  - Maksić, Jasmina
AU  - Ninković, Dragan
AU  - Mitrović-Milosavljević, Mirjana
AU  - Mitrović, Predrag
PY  - 2011
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4422
AB  - Daunov sindrom (DS) je najčešća hromozomska anomalija čoveka. Do sada jedini dokazani
faktor rizika za DS kod deteta su godine života majke. U 90% slučajeva klasične trizomije
21 hromozomsko nerazdvajanje odigra se tokom oogeneze. Kod nekih majki dece sa
DS na�����en je visok titar antitiroidnih antitela pa je moguće da autoimune bolesti majke doprinose
hromozomskom nerazdvajanju. U nekim porodicama uočena je sklonost kod majki i
njihovih baka ka hromozomskom nerazdvajanju, što ukazuje na mogućnost citoplazmatskog
nasle�����ivanja predispozicije za trizomiju 21. Tako�����e, ovarijalni ćelijski mozaicizam sa trizomijom
21 dokumentovan je kod majki sa jednim ili više dece sa Daunovim sindromom. Naše
istraživanje obuhvatilo je za 5 godina, 76 slučajeva dece sa citogenetski potvr�����enim DS, od
toga 30 živoro�����enih i 46 indukovanih pobačaja. Na osnovu sačinjenog upitnika praćen je
veći broj parametara na osnovu kojih smo analizirali moguće faktore rizika koji ukazuju na
Daunov sindrom kod ploda. Rezultati pokazuju da je u 94,7% slučajeva Daunov sindroma
razlog bila klasična trizomija 21, i da majke mla�����e od 35 godina učestvuju sa 73,4% u populaciji
živoro�����ene dece sa DS. Prisutna je povezanost broja prethodnih trudnoća i spontanih
pobačaja sa većim rizikom za DS kod ploda. Najčešća indikacija za prenatalnu dijagnozu
bile su godine života majke. Nedelja gestacije u kojoj je postavljena dijagnoza DS kod
ploda bila je u proseku izme�����u 23. i 35., što ima za posledicu prekid trudnoće kasnije kada
je rizik veći. Daunov sindrom kod nas i dalje ostaje aktuelan društveni, psihološki, sociološki,
kao i značajan problem porodice sa decom sa Daunov sindromom.
AB  - Down syndrome (DS) is the most common chromosome anomaly in humans. The only
risk factor for DS proven so far is the maternal age. In 90% of classic trisomy 21
chromosomal nondisjunction takes place during oogenesis. Some mothers of DS children
were found to have high antithyroid titers so one would assume that mother’s autoimmune
diseases contribute to chromosomal nondisjunction. Within some families there is the
tendency in mothers and their grandmothers towards chromosomal nondisjunction, which
brings out the possibility of cytoplasmatic inheritance of predilection for trisomy 21.
Furthermore, ovarian cellular mosaicism with trisomy 21 was documented in mothers with
1 or more children with Down syndrome. During 5 years we investigated 76 children with
cytogenetically proven DS, 30 of those being liveborn, and 46 with induced abortion. The
special questionnaire was made to monitor many parameters by which we analysed
possible risk factors which suggest Down syndrome in fetus. The results show that classic
trisomy 21 was in 94,7% cases, and that mothers younger than 35 years of age make 73,4%
in the population of liveborn children with DS. There is a correlation between previous
pregnancies and spontaneous miscarriages with a higher risk for DS in a fetus. The most
common indication for prenatal diagnosis was maternal age. The mean week of gestation
when the diagnosis of DS was made was 23-35, which meant that pregnancies were
terminated later when the risk is higher. In our country Down syndrome remains acute
social, psychological, sociological as well as important problem for families with DS
children.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011
T1  - Faktori rizika za Daunov sindrom
T1  - Risk factors for Down syndrome
EP  - 456
SP  - 449
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4422
ER  - 

@conference{
author = "Maksić, Jasmina and Ninković, Dragan and Mitrović-Milosavljević, Mirjana and Mitrović, Predrag",
year = "2011",
abstract = "Daunov sindrom (DS) je najčešća hromozomska anomalija čoveka. Do sada jedini dokazani
faktor rizika za DS kod deteta su godine života majke. U 90% slučajeva klasične trizomije
21 hromozomsko nerazdvajanje odigra se tokom oogeneze. Kod nekih majki dece sa
DS na�����en je visok titar antitiroidnih antitela pa je moguće da autoimune bolesti majke doprinose
hromozomskom nerazdvajanju. U nekim porodicama uočena je sklonost kod majki i
njihovih baka ka hromozomskom nerazdvajanju, što ukazuje na mogućnost citoplazmatskog
nasle�����ivanja predispozicije za trizomiju 21. Tako�����e, ovarijalni ćelijski mozaicizam sa trizomijom
21 dokumentovan je kod majki sa jednim ili više dece sa Daunovim sindromom. Naše
istraživanje obuhvatilo je za 5 godina, 76 slučajeva dece sa citogenetski potvr�����enim DS, od
toga 30 živoro�����enih i 46 indukovanih pobačaja. Na osnovu sačinjenog upitnika praćen je
veći broj parametara na osnovu kojih smo analizirali moguće faktore rizika koji ukazuju na
Daunov sindrom kod ploda. Rezultati pokazuju da je u 94,7% slučajeva Daunov sindroma
razlog bila klasična trizomija 21, i da majke mla�����e od 35 godina učestvuju sa 73,4% u populaciji
živoro�����ene dece sa DS. Prisutna je povezanost broja prethodnih trudnoća i spontanih
pobačaja sa većim rizikom za DS kod ploda. Najčešća indikacija za prenatalnu dijagnozu
bile su godine života majke. Nedelja gestacije u kojoj je postavljena dijagnoza DS kod
ploda bila je u proseku izme�����u 23. i 35., što ima za posledicu prekid trudnoće kasnije kada
je rizik veći. Daunov sindrom kod nas i dalje ostaje aktuelan društveni, psihološki, sociološki,
kao i značajan problem porodice sa decom sa Daunov sindromom., Down syndrome (DS) is the most common chromosome anomaly in humans. The only
risk factor for DS proven so far is the maternal age. In 90% of classic trisomy 21
chromosomal nondisjunction takes place during oogenesis. Some mothers of DS children
were found to have high antithyroid titers so one would assume that mother’s autoimmune
diseases contribute to chromosomal nondisjunction. Within some families there is the
tendency in mothers and their grandmothers towards chromosomal nondisjunction, which
brings out the possibility of cytoplasmatic inheritance of predilection for trisomy 21.
Furthermore, ovarian cellular mosaicism with trisomy 21 was documented in mothers with
1 or more children with Down syndrome. During 5 years we investigated 76 children with
cytogenetically proven DS, 30 of those being liveborn, and 46 with induced abortion. The
special questionnaire was made to monitor many parameters by which we analysed
possible risk factors which suggest Down syndrome in fetus. The results show that classic
trisomy 21 was in 94,7% cases, and that mothers younger than 35 years of age make 73,4%
in the population of liveborn children with DS. There is a correlation between previous
pregnancies and spontaneous miscarriages with a higher risk for DS in a fetus. The most
common indication for prenatal diagnosis was maternal age. The mean week of gestation
when the diagnosis of DS was made was 23-35, which meant that pregnancies were
terminated later when the risk is higher. In our country Down syndrome remains acute
social, psychological, sociological as well as important problem for families with DS
children.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011",
title = "Faktori rizika za Daunov sindrom, Risk factors for Down syndrome",
pages = "456-449",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4422"
}

Maksić, J., Ninković, D., Mitrović-Milosavljević, M.,& Mitrović, P.. (2011). Faktori rizika za Daunov sindrom. in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 449-456.
https://hdl.handle.net/21.15107/rcub_rfasper_4422

Maksić J, Ninković D, Mitrović-Milosavljević M, Mitrović P. Faktori rizika za Daunov sindrom. in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011. 2011;:449-456.
https://hdl.handle.net/21.15107/rcub_rfasper_4422 .

Maksić, Jasmina, Ninković, Dragan, Mitrović-Milosavljević, Mirjana, Mitrović, Predrag, "Faktori rizika za Daunov sindrom" in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011 (2011):449-456,
https://hdl.handle.net/21.15107/rcub_rfasper_4422 .

TY  - CONF
AU  - Ninković, Dragan
AU  - Maksić, Jasmina
PY  - 2011
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4407
AB  - Razvoj slušnog aparata je veoma složen proces koga uslovljava me�����usobno delovanje
genomskog programa tj. genetičkih instrukcija za anatomo-funkcionalno strukturiranje
aparata čula sluha i faktora sredine, koji ga omogućavaju i usmeravaju u toku embrionalnog,
fetalnog i nakon toga tokom postnatalnog razvoja. Greške ili deficijencije, i štetno faktorsko
delovanje jednog i/ili drugog, iskazuje se u kompleksu oštećenja sluha. Najčešći
uzročni faktori potiču iz genoma, genetičke strukture individue. Procenjeno je da više od
50% svih vrsta gubitaka sluha ima substancijalno genetičku komponentu. Oštećenje sluha,
kao najčešći senzorni poremećaj, genetički je vrlo heterogen. Mapiranja i identifikacija gena
sa osobenim ulogama u razvoju struktura i funkcija ovog čula, podvrgnuta DNK probama,
metodama direktne ili indirektne detekcije mutacija – signiraju vezu greške i oštećenja.
Više stotina gena je otkriveno u mehanizmu razvoja slušnog aparata i njegove funkcije.
Jedni su odgovorni svojom aktivnošću za jasno prepoznate komponente strukture i funkcije
čula, drugi – preko enkodiranih proteina sadejstvuju, od modifikacija, sinteze regulatora
transkripcije drugih gena, faktora rasta i dr. Identifikovani su i neki geni koji uzrokuju dominantne
i recesivne oblike sindromske i/ili nesindromske gluvoće, što je u kliničkoj genetici
već u domenu moguće detekcije nosioca genetičkog opterećenja, prenatalnog nalaza i
predmet genetičkog savetovališta. Skrining novoro�����enčadi na slušna oštećenja dao je nedvosmisleno
veliki učinak, od rane detekcije i tretmana, uz brzi napredak genetike slušnih
oštećenja – svrsishodnijim pristupom, prekoncepcijskoj i prenatalnoj dijagnostici, promenom
kliničkog pristupa u obradi i lečenju tih oštećenja.
AB  - Development of hearing apparatus is very complex process dependent on genome
program, i.e. genetic instructions for anatomical and functional structuring of hearing
sense and environmental factors, both of which enable and direct it through embriological,
fetal, and postnatal period. Defects or deficiencies, and harmful consequences of one
and/or both, are evident in hearing impairment. The most comon causes are genome and
genetic structure of an individual. It is estimated that over 50% of all hearing losses are
substantially genetical. Hearing impairment, being the most common sensorial disorder, is
genetically very heterogenous. Mapping and identification of genes with specific roles in
the development of structures and functions of this sense, when tested with DNA analysis,
with direct or indirect mutation detection – point out the link between defect and
impairment. Many hundreds of genes were discovered in the mechanism of development of
hearing apparatus and its function. Some are responsible for clearly recognized
components of structure and function of the sense, others – through encoded proteins act
together in modifications, synthesis of regulators of other gene transcriptions, growth
factors, etc. Furthermore, some genes were identified which cause dominant and recessive
forms of syndrome and/or nonsyndrome deafness, which is in the domain of possible
detection of carrier of genetic predisposition, prenatal positive finding and the subject of
genetic counseling. Screening of newborns for hearing impairment has brought a great
deal, from early detection and treatment, along with fast improvement of genetics in
hearing impairment – with more appropriate approach, preconceptual and prenatal
diagnostics, and changes in clinical approach in treatment of those impairments.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011
T1  - Genetički aspekt oštećenja sluha
T1  - Genetic aspect of hearing impairment
EP  - 414
SP  - 409
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4407
ER  - 

@conference{
author = "Ninković, Dragan and Maksić, Jasmina",
year = "2011",
abstract = "Razvoj slušnog aparata je veoma složen proces koga uslovljava me�����usobno delovanje
genomskog programa tj. genetičkih instrukcija za anatomo-funkcionalno strukturiranje
aparata čula sluha i faktora sredine, koji ga omogućavaju i usmeravaju u toku embrionalnog,
fetalnog i nakon toga tokom postnatalnog razvoja. Greške ili deficijencije, i štetno faktorsko
delovanje jednog i/ili drugog, iskazuje se u kompleksu oštećenja sluha. Najčešći
uzročni faktori potiču iz genoma, genetičke strukture individue. Procenjeno je da više od
50% svih vrsta gubitaka sluha ima substancijalno genetičku komponentu. Oštećenje sluha,
kao najčešći senzorni poremećaj, genetički je vrlo heterogen. Mapiranja i identifikacija gena
sa osobenim ulogama u razvoju struktura i funkcija ovog čula, podvrgnuta DNK probama,
metodama direktne ili indirektne detekcije mutacija – signiraju vezu greške i oštećenja.
Više stotina gena je otkriveno u mehanizmu razvoja slušnog aparata i njegove funkcije.
Jedni su odgovorni svojom aktivnošću za jasno prepoznate komponente strukture i funkcije
čula, drugi – preko enkodiranih proteina sadejstvuju, od modifikacija, sinteze regulatora
transkripcije drugih gena, faktora rasta i dr. Identifikovani su i neki geni koji uzrokuju dominantne
i recesivne oblike sindromske i/ili nesindromske gluvoće, što je u kliničkoj genetici
već u domenu moguće detekcije nosioca genetičkog opterećenja, prenatalnog nalaza i
predmet genetičkog savetovališta. Skrining novoro�����enčadi na slušna oštećenja dao je nedvosmisleno
veliki učinak, od rane detekcije i tretmana, uz brzi napredak genetike slušnih
oštećenja – svrsishodnijim pristupom, prekoncepcijskoj i prenatalnoj dijagnostici, promenom
kliničkog pristupa u obradi i lečenju tih oštećenja., Development of hearing apparatus is very complex process dependent on genome
program, i.e. genetic instructions for anatomical and functional structuring of hearing
sense and environmental factors, both of which enable and direct it through embriological,
fetal, and postnatal period. Defects or deficiencies, and harmful consequences of one
and/or both, are evident in hearing impairment. The most comon causes are genome and
genetic structure of an individual. It is estimated that over 50% of all hearing losses are
substantially genetical. Hearing impairment, being the most common sensorial disorder, is
genetically very heterogenous. Mapping and identification of genes with specific roles in
the development of structures and functions of this sense, when tested with DNA analysis,
with direct or indirect mutation detection – point out the link between defect and
impairment. Many hundreds of genes were discovered in the mechanism of development of
hearing apparatus and its function. Some are responsible for clearly recognized
components of structure and function of the sense, others – through encoded proteins act
together in modifications, synthesis of regulators of other gene transcriptions, growth
factors, etc. Furthermore, some genes were identified which cause dominant and recessive
forms of syndrome and/or nonsyndrome deafness, which is in the domain of possible
detection of carrier of genetic predisposition, prenatal positive finding and the subject of
genetic counseling. Screening of newborns for hearing impairment has brought a great
deal, from early detection and treatment, along with fast improvement of genetics in
hearing impairment – with more appropriate approach, preconceptual and prenatal
diagnostics, and changes in clinical approach in treatment of those impairments.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011",
title = "Genetički aspekt oštećenja sluha, Genetic aspect of hearing impairment",
pages = "414-409",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4407"
}

Ninković, D.,& Maksić, J.. (2011). Genetički aspekt oštećenja sluha. in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 409-414.
https://hdl.handle.net/21.15107/rcub_rfasper_4407

Ninković D, Maksić J. Genetički aspekt oštećenja sluha. in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011. 2011;:409-414.
https://hdl.handle.net/21.15107/rcub_rfasper_4407 .

Ninković, Dragan, Maksić, Jasmina, "Genetički aspekt oštećenja sluha" in Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011 (2011):409-414,
https://hdl.handle.net/21.15107/rcub_rfasper_4407 .