ArticleSisli Etfal Hastanesi tip bulteni2018
Muscular Dystrophy: A Retrospective Evaluation of 15 Cases.
Article in Sisli Etfal Hastanesi tip bulteni, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors at 1 institution in 1 country.
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Abstract
objectivesThe aim of this study was to investigate the clinical and laboratory findings of patients followed up with a diagnosis of Duchenne muscular dystrophy (DMD).
methodsThis 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.
resultsThe 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.
conclusionParents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies.
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