The genetic analysis determined deletions in 12 (80%) and duplications in 2 (13%) patients.Conclusion: Parents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies.
📌 3 Key Takeaways
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Objective & Hypothesis:Objectives: The aim of this study was to investigate the clinical and laboratory findings of patients followed up with a diagnosis of Duchenne muscular dystrophy (DMD).Methods: This retrospective study included 15 boys diagnosed with muscular dystrophy at the Pediatric Neurology Department between July 2008 and July 2016.
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Key Findings & Data:The presenting symptoms; level of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine kinase (CK); ophthalmological findings; echocardiography (ECHO) results; findings on brain magnetic resonance imaging (MRI); genetic analysis results; and muscular biopsy findings were evaluated.Results: The mean age of the patients was 5.2±2.3 years (range: 11 months-8 years) and the mean age at the onset of DMD was 4.1±2.2 years (range: 10 months-6 years).
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Conclusion & Impact:The genetic analysis determined deletions in 12 (80%) and duplications in 2 (13%) patients.Conclusion: Parents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies.
🔬Design:Research Article
📍Scope:2008 Verileri
⚙️Variables:Domain Parameters
Abstract
Objectives: The aim of this study was to investigate the clinical and laboratory findings of patients followed up with a diagnosis of Duchenne muscular dystrophy (DMD).Methods: This retrospective study included 15 boys diagnosed with muscular dystrophy at the Pediatric Neurology Department between July 2008 and July 2016. The presenting symptoms; level of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine kinase (CK); ophthalmological findings; echocardiography (ECHO) results; findings on brain magnetic resonance imaging (MRI); genetic analysis results; and muscular biopsy findings were evaluated.Results: The mean age of the patients was 5.2±2.3 years (range: 11 months-8 years) and the mean age at the onset of DMD was 4.1±2.2 years (range: 10 months-6 years). The ALT level ranged between 67 and 527 IU/L, the AST between 44 and 455 IU/L, and the CK between 931 and 19,595 IU/L. The genetic analysis determined deletions in 12 (80%) and duplications in 2 (13%) patients.Conclusion: Parents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies.
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Cite This Article
GÜNGÖR, O., DİLBER, C. (2018). Muscular Dystrophy: A Retrospective Evaluation of 15 Cases Original Research. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 52 - Sayı: 1, 47–50. https://ajindex.com/articles/363733
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