Disferlinopatilerin bölgesel panoraması

There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies.

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Key Findings & Data:Material and Method: We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and 2011 in the pathology laboratory of Izmir Dr.Behcet Uz Children's Hospital.

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Conclusion & Impact:There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p

🔬Design:Review & Systematic Survey

📍Scope:2008 Verileri

⚙️Variables:Domain Parameters

Abstract

Objective: We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies. In addition, we aimed to provide a realistic comprehensive picture of the severe muscle diseases in the Aegean Region of Turkey. Material and Method: We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and 2011 in the pathology laboratory of Izmir Dr.Behcet Uz Children's Hospital. Biopsy specimens of all patients clinically diagnosed as muscular dystrophy referred from 4 different centers of neurological disorders were collected.Results: Dystrophinopathy was the most (n=45) and gammasarcoglycanopathy was the second common (n=13) muscular dystrophy in this series. The mean age of all 90 patients was 8.8 years (3 months- 64 years). Only 14 cases (15.5%) were older than 14, and 23 cases were younger than two years. Dysferlinopathy was the most common dystrophy in the older age group. There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p

Özet

Amaç: Bu çalışmada, kas biyopsi incelemesiyle disferlinopati olduğu doğrulanan 11 olgunun (6 erkek ve 5 kadın) klinik ve histopatolojik özelliklerini sunduk. Ek olarak Türkiye'nin Ege Bölgesinde karşılaşılan distrofik kas hastalıklarının gerçekçi ve kapsamlı bir dökümünü yapmayı amaçladık. Gereç ve Yöntem: 2008 ve 2011 yılları arasında Dr. Behçet Uz Çocuk Hastanesi, Patoloji Laboratuvarında kas biyopsi incelemesi yapılan 90 hasta retrospektif olarak değerlendirildi. Tüm hastalar klinik olarak muskuler distrofi tanısı almıştı ve biyopsi materyalleri 4 farklı nörolojik hastalıklar merkezinden gönderilmişti.Bulgular: Bu seride, distrofinopatiler en sık (n=45), gama sarkoglikanopatiler ikinci sıklıkta (n=13) gözlendi. Tüm hastalarda ortalama yaş 8,8 yıldı (3 ay - 64 yıl). Yalnızca 14 olgu (%15,5) 14 yaşından büyük, 23 olgu (%25,5) 2 yaşından küçüktü. Disferlinopati erişkin yaş grubunda en sık gözlenen muskuler distrofiydi. Muskuler distrofi subtipi ile inflamasyon varlığı (p=0,021), kreatin kinaz düzeyi (p= 0,001), hastaların yaşı (p=0,001) ve cinsiyeti (p

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Cite This Article

DİNİZ, G., TÜRE, S., TEKGÜL, H., ORTAÇ, R., AKÇAY, A., AKHAN, G., ERYAŞAR, G. (2022). Disferlinopatilerin bölgesel panoraması. Türk Patoloji Dergisi, Cilt: 28 - Sayı: 3, 259–265. https://ajindex.com/articles/640691

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