Turk J Med Sci
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The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype. ⋯ It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.
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The aim of the study was to evaluate the protective effect of Botulinum A toxin injection against ischemia-reperfusion injury. ⋯ Findings show that botulinum has a protective effect against the ischemia-reperfusion injury via increased NO and decreased MPO levels in tissue. Based on tissue NO levels, ischemic preconditioning was significantly higher than botulinum.
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Diagnosis of interstitial lung diseases requires a multidisciplinary approach, and a gold standard for histological diagnosis is open lung biopsy. Transbronchial lung biopsy (TBLB) and in recent years an alternative method, cryobiopsy (TBLC), are used for the diagnosis of parenchymal lung lesions. The aim of this study is to compare the efficacy of concomitant conventional TBLB and TBLC. ⋯ Transbronchial lung cryobiopsy is a promising technique for the diagnosis of parenchymal lung diseases compared to transbronchial lung biopsy.
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Nailfold video capillaroscopy is considered as a reliable method for evaluating peripheral microangiopathy in rheumatologic diseases. In this study, we aimed to demonstrate the utility of handheld dermatoscopy as an easy-to-use nailfold capillaroscopic instrument in patients with rheumatoid arthritis. ⋯ Hand-held dermatoscopy seems to be a useful technique in the evaluation of nail fold capillary changes. We suggest that in patients with rheumatoid arthritis, when capillaroscopic examination is needed, it can be evaluated using handheld dermatoscopy. Selected patients who showed findings using this method can be further examined with classical capillaroscopy to obtain more quantitative data.
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Diagnosing and managing functional mitral regurgitation (MR) is often challenging and requires an integrated approach including a comprehensive echocardiographic examination. However, the effects of volume overload on the echocardiographic assessment of MR severity are uncertain. The purpose of this study was to weigh the effects of volume overload in the echocardiographic assessment of MR severity among patients with heart failure (HF). ⋯ This is the first study to investigate the relationship of changes in severity of MR with volume-load by monitoring the proBNP levels among patients with HF. The present results demonstrated that volume reduction, as evidenced by a decline in the proBNP levels, was accompanied by a marked reduction in the EROA, VC, and the RV among patients with left ventricular dysfunction.