Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2
Autori
Mijajlovic, MilijaBozovic, Ivo
Pavlović, Aleksandra
Rakocevic-Stojanovic, Vidosava
Gluscevic, Sanja
Stojanovic, Amalija
Basta, Ivana
Meola, Giovanni
Peric, Stojan
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
IntroductionMyotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investigation of deep brain structures. We sought to evaluate TCS findings in genetically confirmed DM1 and DM2 patients, and further correlate these results with patients’ clinical features.MethodsThis cross-sectional study included 163 patients (102 DM1, 61 DM2). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) as well as the diameter of the third ventricle (DTV) were assessed by TCS. Patients were evaluated using the Hamilton Depression Rating Scale, Fatigue Severity Scale and Daytime Sleepiness Scale.ResultsSN hyperechogenicity was observed in 40% of DM1 and 34% of DM2 patients. SN hypoechogenicity was detected in 17% of DM1 and 7% of DM2 patients. BR hypoechogenicity was found in 36% of DM1 and 47% of DM2 subjects. Enlarged DT...V was noted in 19% of DM1 and 15% of DM2 patients. Older, weaker, depressive, and fatigued DM1 patients were more likely to have BR hypoechogenicity (p < 0.05). DTV correlated with age and disease duration in DM1 (p < 0.01). In DM2 patients SN hyperechogenicity correlated with fatigue. Excessive daytime sleepiness was associated with hypoechogenic BR (p < 0.05) and enlarged DVT (p < 0.01) in DM2 patients.ConclusionsTCS is an easy applicable and sensitive neuroimaging technique that could offer new information regarding several brainstem structures in DM1 and DM2. This may lead to better understanding of the pathogenesis of the brain involvement in DM with possible clinical implications.
Ključne reči:
Myotonic dystrophy type 1 / Myotonic dystrophy type 2 / Nucleus raphe / Substantia nigra / Transcranial sonography / Myotonic dystrophy type 1 / Myotonic dystrophy type 2 / Transcranial sonography Substantia nigra / Nucleus rapheIzvor:
Heliyon, 2024, 10, 5, e26856-Izdavač:
- Elsevier
Finansiranje / projekti:
- Ispitivanje molekularno-genetskih, patohistoloških i biohemijskih karakteristika neuromišićnih bolesti (RS-MESTD-Basic Research (BR or ON)-175083)
URI
https://www.sciencedirect.com/science/article/pii/S2405844024028871internal-pdf://2340/S2405844024028871.html
http://rfasper.fasper.bg.ac.rs/handle/123456789/5409
Institucija/grupa
rFASPERTY - JOUR AU - Mijajlovic, Milija AU - Bozovic, Ivo AU - Pavlović, Aleksandra AU - Rakocevic-Stojanovic, Vidosava AU - Gluscevic, Sanja AU - Stojanovic, Amalija AU - Basta, Ivana AU - Meola, Giovanni AU - Peric, Stojan PY - 2024 UR - https://www.sciencedirect.com/science/article/pii/S2405844024028871 UR - internal-pdf://2340/S2405844024028871.html UR - http://rfasper.fasper.bg.ac.rs/handle/123456789/5409 AB - IntroductionMyotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investigation of deep brain structures. We sought to evaluate TCS findings in genetically confirmed DM1 and DM2 patients, and further correlate these results with patients’ clinical features.MethodsThis cross-sectional study included 163 patients (102 DM1, 61 DM2). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) as well as the diameter of the third ventricle (DTV) were assessed by TCS. Patients were evaluated using the Hamilton Depression Rating Scale, Fatigue Severity Scale and Daytime Sleepiness Scale.ResultsSN hyperechogenicity was observed in 40% of DM1 and 34% of DM2 patients. SN hypoechogenicity was detected in 17% of DM1 and 7% of DM2 patients. BR hypoechogenicity was found in 36% of DM1 and 47% of DM2 subjects. Enlarged DTV was noted in 19% of DM1 and 15% of DM2 patients. Older, weaker, depressive, and fatigued DM1 patients were more likely to have BR hypoechogenicity (p < 0.05). DTV correlated with age and disease duration in DM1 (p < 0.01). In DM2 patients SN hyperechogenicity correlated with fatigue. Excessive daytime sleepiness was associated with hypoechogenic BR (p < 0.05) and enlarged DVT (p < 0.01) in DM2 patients.ConclusionsTCS is an easy applicable and sensitive neuroimaging technique that could offer new information regarding several brainstem structures in DM1 and DM2. This may lead to better understanding of the pathogenesis of the brain involvement in DM with possible clinical implications. PB - Elsevier T2 - Heliyon T2 - HeliyonHeliyon T1 - Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2 IS - 5 SP - e26856 VL - 10 DO - 10.1016/j.heliyon.2024.e26856 ER -
@article{ author = "Mijajlovic, Milija and Bozovic, Ivo and Pavlović, Aleksandra and Rakocevic-Stojanovic, Vidosava and Gluscevic, Sanja and Stojanovic, Amalija and Basta, Ivana and Meola, Giovanni and Peric, Stojan", year = "2024", abstract = "IntroductionMyotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investigation of deep brain structures. We sought to evaluate TCS findings in genetically confirmed DM1 and DM2 patients, and further correlate these results with patients’ clinical features.MethodsThis cross-sectional study included 163 patients (102 DM1, 61 DM2). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) as well as the diameter of the third ventricle (DTV) were assessed by TCS. Patients were evaluated using the Hamilton Depression Rating Scale, Fatigue Severity Scale and Daytime Sleepiness Scale.ResultsSN hyperechogenicity was observed in 40% of DM1 and 34% of DM2 patients. SN hypoechogenicity was detected in 17% of DM1 and 7% of DM2 patients. BR hypoechogenicity was found in 36% of DM1 and 47% of DM2 subjects. Enlarged DTV was noted in 19% of DM1 and 15% of DM2 patients. Older, weaker, depressive, and fatigued DM1 patients were more likely to have BR hypoechogenicity (p < 0.05). DTV correlated with age and disease duration in DM1 (p < 0.01). In DM2 patients SN hyperechogenicity correlated with fatigue. Excessive daytime sleepiness was associated with hypoechogenic BR (p < 0.05) and enlarged DVT (p < 0.01) in DM2 patients.ConclusionsTCS is an easy applicable and sensitive neuroimaging technique that could offer new information regarding several brainstem structures in DM1 and DM2. This may lead to better understanding of the pathogenesis of the brain involvement in DM with possible clinical implications.", publisher = "Elsevier", journal = "Heliyon, HeliyonHeliyon", title = "Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2", number = "5", pages = "e26856", volume = "10", doi = "10.1016/j.heliyon.2024.e26856" }
Mijajlovic, M., Bozovic, I., Pavlović, A., Rakocevic-Stojanovic, V., Gluscevic, S., Stojanovic, A., Basta, I., Meola, G.,& Peric, S.. (2024). Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2. in Heliyon Elsevier., 10(5), e26856. https://doi.org/10.1016/j.heliyon.2024.e26856
Mijajlovic M, Bozovic I, Pavlović A, Rakocevic-Stojanovic V, Gluscevic S, Stojanovic A, Basta I, Meola G, Peric S. Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2. in Heliyon. 2024;10(5):e26856. doi:10.1016/j.heliyon.2024.e26856 .
Mijajlovic, Milija, Bozovic, Ivo, Pavlović, Aleksandra, Rakocevic-Stojanovic, Vidosava, Gluscevic, Sanja, Stojanovic, Amalija, Basta, Ivana, Meola, Giovanni, Peric, Stojan, "Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2" in Heliyon, 10, no. 5 (2024):e26856, https://doi.org/10.1016/j.heliyon.2024.e26856 . .
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