Browsing by Author "Hazan F."

Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C; [Kavşak tipi müsküler distrofi tip 2C hastalari{dotless}ni{dotless}n histopatolojik ve genetik özellikleri]
    (Federation of Turkish Pathology Societies, 2014) Diniz G.; Hazan F.; Tosun Yildirim H.; Ünalp A.; Polat M.; Serdaroǧlu G.; Güzel O.; Baǧ Ö.; SeçIl Y.; Özgönül F.; Türe S.; Akhan G.; Tükün A.
    Objective: In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. Material and Method: We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and biopsy materials were collected from five different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood samples of patients and genetic tests (mutation analyses for gamma sarcoglycan gene and deletion-duplication analyses for all 4 sarcoglycan genes) were performed. Results: The mean age of the patients was 7.6 years (2 -21 years). Only one case (5%) was older than 14 years. The mean CPK level was 10311 U/L (1311 - 35000 U/L). There were 4 siblings in these series. Expression defects of gamma sarcoglycan staining were determined in (15 males, and 5 females) all patients with muscle biopsy specimens. But only in 9 of them, disease-causing defects could be determined with genetic analyses. Conclusion: The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. Because dystrophinopathies and sarcoglycanopathies have similar clinical manifestation.
  • No Thumbnail Available
    Item
    Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey
    (Pacini Editore S.p.A., 2018) Yiş U.; Diniz G.; Hazan F.; Daimagüler H.S.; Baysal B.T.; Baydan F.; Akinci G.; Ünalp A.; Aktan G.; Bayram E.; Hiz S.; Paketçi C.; Okur D.; Özer E.; Danyeli A.E.; Polat M.; Uyanik G.; Çirak S.
    The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.