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

Successful Dasatinib Treatment in Chronic Myeloid Leukemia after Long-term Imatinib Failure: Case Report

WOS: 000279286000003Chronic myeloid leukemia (CML) is a chronic myeloproliferative disease almost always caused by a genetic defect known as the Philadelphia (Ph) chromosome. Ph chromosome is associated with a BCR/ABL fusion gene expressed as an oncoprotein, which is generally considered as the initiator for the chronic phase of CML. Tyrosine kinase inhibitors (TKI) are target-specific therapeutic agents that has successful results for obtaining complete responses for the majority of patients with this disease. Imatinib mesylate has been accepted as standard of care for the newly diagnosed chronic phase patients with CML. Although imatinib mesylate has been successful in most of patients by providing complete hematological and cytogenetical response and also major molecular response, imatinib resistance could be seen in some of the patients detected as loss of the response or never obtained optimal response. The response criteria for CML patients treated with imatinib, definition of the optimal response, suboptimal response and failure were defined and published as ELN recommendations. Dasatinib is approved for imatinib resistant and intolerant CML patients. In this report, we have presented a case with chronic phase CML who lost hematological and cytogenetical response and successfully treated with dasatinib