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    Antiepileptic drug-induced osteopenia in ambulatory epileptic children receiving a standard vitamin D3 supplement
    (Freund Publishing House Ltd, 2005) Tekgul H.; Dizdarer G.; Demir N.; Ozturk C.; Tutuncuoglu S.
    Dual energy X-ray absorptiometry (DEXA) is a non-invasive, rapid, accurate and highly reproducible method for the assessment of antiepileptic drug (AED)-induced osteopenia in epileptic children. In this study, we investigated bone mineral density (BMD) using DEXA in 56 epileptic children receiving long-term AED treatment for at least 2 years. All children received AED monotherapy or polytherapy plus a standard vitamin D3 supplement (400 U/day). BMD measurements were made from lumbar spine (L2-L4) regions. Age- and sex-specific BMD SD scores were calculated for each child. Osteopenia was defined as SD scores less than -1.5. There was no significant difference in mean BMD values between epileptic children receiving monotherapy or polytherapy. The results were also compared to the age- and sex-specific BMD SD scores obtained from healthy Turkish children. Only three patients (5%) receiving AED therapy had a BMD SD score less than -1.5. This rate is relatively lower than the rates of previous studies conducted on ambulatory children on long-term AED treatment without vitamin D3 supplementation. © Freund Publishing House Ltd., London.
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    Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
    (2004) Ülgenalp A.; Giray Ö.; Bora E.; Hizli T.; Kurul S.; Sagin-Saylam G.; Karasoy H.; Uran N.; Dizdarer G.; Tütüncüoglu S.; Dirik E.; Özkınay F.; Erçal D.
    We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.