Browsing by Author "Türe, S"

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    Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2C
    Diniz, G; Hazan, F; Yildirim, HT; Ünalp, A; Polat, M; Serdaroglu, G; Güzel, O; Bag, O; 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.
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    The evaluation of muscle biopsy findings in children with neuromuscular disorders
    Diniz, G; Yildirim, HT; Ünalp, A; Barutçuoglu, M; Güzel, O; Polat, M; Türe, S; Özgönül, F; Serdaroglu, G
    Objective: The studies considering the clinical and histopathological features of childhood muscle disease are scarce in number worldwide. This study aims to examine the histopathological profile of the children's muscle biopsies evaluated at the Behcet Uz Children's Hospital (BUCH) and determine their correlation with clinical diagnosis. Methods: We retrospectively reviewed 323 children who underwent muscle biopsy examination between 2004 and 2011 at pathology laboratory of Izmir BUCH. All patients were clinically diagnosed as neuromuscular disorders and biopsy specimens were collected from 5 different centers of neurological disorders. Results: The mean age of the patients was 6.15 years (3 weeks-18 years). Only 22 cases (6.8%) were older than 14 and 39 (12.07%) were younger than twelve months. Spinal muscular atrophy (n=11; 28.2%) was the most common disease in the infantile group. Dystrophies were diagnosed in 148 (45.7%) patients and 102 of them were dystrophinopathies. Other disorders were 23 primary, 16 inflammatory and 19 metabolic/mitochondrial myopathies and 28 neuropathies. Seventy three (22.9%) patients had similarly affected family members. Consanguinity rate was 25.1%. Serum enzymes alterations, EMG pathologies and fiber type disproportion were determined in 109 (33.7%), 188 (58.2%) and 85 (26.3%) of the patients respectively. There were statistical significant correlations between the types of disease and serum enzyme levels (p=0.001), and age (p=0.015) of the patients. Conclusion: The present study revealed the panorama of the childhood muscle diseases in western Turkey. We conclude that if avoidance from unnecessary diagnostic and therapeutic interventions was desired, we must be aware of the limitation and diagnostic value of muscle biopsy evaluations in childhood muscle diseases.