Turk J Med Sci
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Glanzmann thrombasthenia (GT) is a rare autosomal recessively inherited bleeding disorder characterized by the quantitative (type 1 and type 2) or qualitative (type 3) deficiency in platelet membrane glycoprotein (GP) IIb/IIIa (CD41a/CD61) fibrinogen receptors. In type 1, 2, and 3, CD41a/CD61 expression is 5%, 5%–20% and above 20%, respectively. In this study, diagnosis of GT was confirmed and subgroups were identified in 32 Turkish patients by flow cytometry analysis. ⋯ Especially due to consanguineous marriages, GT with various glycoprotein levels may be detected. As a result of the flow cytometry analysis of the present study with the highest GT patient population in Turkey, type 1 GT patients were the most common subgroup. In the determination of the GT subgroups; especially in the detection of type 3 GT, flow cytometry is the most sensitive glycoprotein analysis method. In addition to light transmission aggregometry, CD41a/CD61 study by flow cytometer confirms diagnosis when mutation analysis cannot be performed.
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The knowledge of factors influencing functional outcomes after aneurysmal subarachnoid hemorrhage (ASH) has significantly increased in recent decades, still not enough. We aimed to identify the predictors of full functional recovery (FFR) in endovascularly treated patients with ASH. ⋯ With the administration of endovascular treatment, most of the patients with ASH can return to a normal productive life. Younger age, better mFG, lower PLR and NLR, as well as higher PNR, increase the likelihood of FFR.
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We aimed to determine the presence of subclinical atherosclerosis using carotid intima-media thickness (CIMT) and biochemical parameters in children and adolescents with congenital adrenal hyperplasia (CAH). ⋯ In this study, the CIMT values of CAH cases were similar to those of healthy subjects.
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Volume and T2 relaxation time measurements of the skeletal muscle provide quantitative information. We aimed to evaluate the interobserver reliability and the intraobserver reproducibility of measurements of volumes and T2 relaxation times of the quadriceps femoris and the hamstring muscles. ⋯ Volume and T2 relaxation time measurements of the quadriceps femoris and the hamstring muscles are reliable and reproducible.
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Peritonitis attacks of Familial Mediterranean Fever (FMF) usually requires emergency medical admissions and it’s hard to distinguish a typical abdominal attack from surgical causes of acute abdomen. Therefore, history of abdominal surgery, particularly appendectomy, is very common in patients with FMF. However, history of appendectomy might also give some clues about the course of FMF in the adulthood. This study was to determine whether the history of appendectomy help to anticipate disease course of FMF in the adulthood. ⋯ Appendectomy history is common in FMF patients and associated with frequent serositis attacks in adulthood. These patients require higher colchicine doses with a lower rate of response and more need for Interleukin-1 antagonist therapies.