Volume XLVII, Number 27, January 10, 1930

Amaç: Yaygın Gelişimsel Bozukluklar (YGB) ve eşlik eden Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) belirtileri olan olgularda Metilfenidat (MPH) ilk tedavi seçeneği olmakla birlikte, sadece DEHB olan olgulara göre daha fazla yan etkiye yol açabildiği ve klinik yanıtın çok değişken olabileceği bilinmektedir. Bu çalışmanın amacı YGB ve Hafif Düzey Mental Retardasyonu (MR) olan olguların MPH'a yanıtı- nın yalnızca DEHB olan olgularla karşılaştırılması ve CES-1 gen polimorfizmleriyle ilişkisinin bulunup bulunmadığının belirlenmesidir. Yöntem: YGB ve eşlik eden DEHB varlığında tükürük örneği alınarak MPH'ı metabolize eden enzim olan Karboksilesteraz-1 (CES-1) polimorfizmleri (Arg199/His, Ser75/Asn ve Ile49/Val) incelenmiş olup MPH yanıtı Dikkat Eksikliği ve Yıkıcı Davranış Bozuklukları için DSM-IV'e Dayalı Tarama ve Değerlendirme Ölçeği ve Klinik Global İzlem Ölçeği ile değerlendirilmiştir. Bulgular: YGB ve eşlik eden DEHB varlığında olguların, DEHB, DEHB ve eşlik eden Hafif Düzey Zeka Geriliği olan olgulara göre daha kötü MPH yanıtı verdikleri ve CES-1'de Arg199/His polimorfizminin istatistiksel olarak anlamlı oranda yüksek olduğu bulunmuştur. Sonuç: Bu çalışma YGB ve eşlik eden DEHB olan olgularda CES-1 Arg199/His polimorfizminin incelendiği ilk çalışmadır.Objective: Methylphenidate is the first-choice medication for the Pervasive Developmental Disorders (PDDs), and comorbid Attention Deficit Hyperactivity Disorder (ADHD). But this approach generally results with poor outcomes, and increased adverse effects. It is aimed to investigate the comparison of cases who diagnosed with PDDs and Mild Mental Retardation (MR) and cases with pure ADHD in terms of the clinical response to MPH. Also we aimed to investigate the relations between CES-1 polymorphism gene and the clinical response to MPH.Methods: For clarifying this we searched for three polymorphisms (Arg199/His, Ser75/Asn, and Ile49/Val) in carboxylesterase-1 gene (CES-1) in the saliva of patients diagnosed with PDD+ADHD. Also, we assessed the clinical response to MPH by dimensional approach using the Attention Deficit Hyperactivity Disorder Rating Scale IV and Clinical Global Impression-Improvement scale. Results: PDD+ADHD groups had significantly higher Arg199/His polymorphism, and clinically responded poorer with symptoms sometimes even worsening to the MPH treatment compared with "pure" ADHD and ADHD+MR groups. Conclusion: This is the first study that an association between Arg199/His polymorphism in CES1 and altered treatment response to MPH in patients with PDD that presents with symptoms of ADHD

Non ST-segment elevation myocardial infarction in patient with essential thrombocythemia

A 68-year-old woman presented with acute chest pain and a greatly increased platelet count. Cardiac catheterization revealed subtotal occlusion and a thrombus-like filling defect in the right coronary artery. The patient was successfully treated with intravenous tirofiban. Essential thrombocythemia was diagnosed based on bone marrow findings, clinical presentation and laboratory analysis. The relationship between intracoronary thrombus and essential thrombocythemia is discussed

Non ST-segment elevation myocardial infarction in patient with essential thrombocythemia

A 68-year-old woman presented with acute chest pain and a greatly increased platelet count. Cardiac catheterization revealed subtotal occlusion and a thrombus-like filling defect in the right coronary artery. The patient was successfully treated with intravenous tirofiban. Essential thrombocythemia was diagnosed based on bone marrow findings, clinical presentation and laboratory analysis. The relationship between intracoronary thrombus and essential thrombocythemia is discussed

DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo

Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 30 -untranslated region of the DAT1 gene and in exon 3 of the dopamine D4 receptor (DRD4) gene differ among four groups (31 subjects with SCT but no ADHD, 146 individuals with ADHD but no SCT, 67 subjects with SCT + ADHD, and 92 healthy controls). Methods: We compared the sociodemographic profiles, neurocognitive domains, and prevalence of two VNTRs in SCT and ADHD subjects versus typically developing (TD) controls. Results: The SCT without ADHD group had a higher proportion of females and lower parental educational attainment. Subjects in this group performed worse on neuropsychological tests, except for psychomotor speed and commission errors, compared to controls. However, the ADHD without SCT group performed significantly worse on all neuropsychological domains than controls. We found that 4R homozygosity for the DRD4 gene was most prevalent in the ADHD without SCT group. The SCT without ADHD group had the highest 7R allele frequency, differing significantly from the ADHD without SCT group. Conclusion: The 7R allele of DRD4 gene was found to be significantly more prevalent in SCT cases than in ADHD cases. No substantial neuropsychological differences were found between SCT and ADHD subjects

Post-transcriptional silencing of TRPC1 ion channel gene by RNA interference upregulates TRPC6 expression and store-operated Ca2+ entry in A7r5 vascular smooth muscle cells

WOS: 000269178100006PubMed ID: 19386284This study investigates functional consequences of TRPC1 ion channel downregulation observed in aging rat aorta by employing RNA interference in cultured vascular smooth muscle cells. For this purpose, A7r5 aortic smooth muscle cells were used in quantitative gene and protein expression as well as in functional analyses. According to quantitative RT-PCR results. TRPC3, TRPC4 and TRPC5 mRNAs were not at detectable levels. In siTRPC1-transfected cells, TRPC1 mRNA and protein levels were decreased by 40% and 64%; however, those of TRPC6 were drastically increased by 100% and 200%, respectively. In fura-2-loaded TRPC1 knockdown cells, despite the decreased TRPC1 levels, cyclopiazonic acid-induced Ca2+ entry and store-operated Ca2+ entry following Ca2+ addition were elevated by 77% and 135%, respectively. Results suggest that decrease in TRPC1 may be compensated by upregulated TRPC6 that possibly takes part in store-operated Ca2+ entry in vascular smooth muscle cells. (C) 2009 Elsevier Inc. All rights reserved.The Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [SBAG-3033, BIDEB-2211]; Ege UniversityEge University [BAP06ECZ013]This work was supported by The Scientific and Technological Research Council of Turkey (TUBITAK, SBAG-3033 to M.T. and graduate scholarship, BIDEB-2211 to C.S.) and in part by the Ege University (BAP06ECZ013 to M.T.). Authors thank Dr. G. Gonul for developing the apparatus that allow monitoring [Ca2+]i changes in cells