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The endothelial nitric oxide synthase gene variant rs2070744 in turkish elite athletes

Aim: Genetic variations have been associated with physical performance. The Endothelial Nitric Oxide Synthase (eNOS) gene variants have been widely studied in this context. The aim of the present study is to compare the T786C variant of the eNOS gene in Turkish elite athletes and control groups. Material and Method: DNA samples were obtained from 52 elite athletes (45 male, 7 female) and 60 control subjects (49 male, 11 female). The T-786C variant of the eNOS gene was genotyped by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Results: TT, TC, CC genotypes of the T-786C variant of eNOS gene were observed in 40.0%, 48.3%, and 11.6% of control subjects and in 55.7%, 30.7% and 13.4% of elite athletes, respectively. There was not any statistically significant difference in genotype and allele frequencies of T-786C of the eNOS between the elite athlete and the control groups (p>0.05). Discussion: The present study demonstrated that the T-786C variant of the eNOS gene is not associated with study population but larger sample analyses are needed in different groups of elite athletes in order to substantiate these findings.

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The evaluation of bone mineral density in patients with thalassemia major

Aim: We aim to evaluate osteopathy in patients with thalassemia major (TM) by performing bone mineral densitometry (BMD) and biochemical indices and to emphasize preventive measures and the importance of early diagnosis of osteoporosis. Material and Method: 37 TM patients (18 female, 19 male) were included in the study. The age, gender, biochemical parameters were recorded. BMD was determined using dual energy X-ray absorptiometry from lumbar vertebrae. Z scores were calculated automatically by the device. According to Z scores; <-1 was normal, -1-2 was osteopenia, >-2 was considered as osteoporosis. Results:  9 patients’ Z scores (24.3%) were normal, 5 patients were osteopenic (13.5%), and 23 patients were osteoporotic (62.2%). In the osteoporotic group, parathyroid hormone (PTH) was low in 2 patients (5.4%) and vitamin D was deficient in 12 (32.4%) patients. Lumbar BMD was positively correlated with age (r=0.625, P=0.000), height (r = 0.759, P =0.000), weight (r=0.830, P=0.000), and BMI (r=0.730, P=0.000), and was negatively correlated with ALP (r=-0.422, P=0.010). In the osteopenic group, vitamin D was deficient in 2 patients (5.4%); all other biochemical parameters were within normal limits. Lumbar BMD was positively correlated with age (r=0.625, P=0.000), height (r=0.759, P=0.000), weight (r=0.830, P=0.000), and body mass index (BMI) (r=0.730, P= 0.000), and was negatively correlated with alkaline phosphatase (ALP) (r= -0.422, P= 0.010). Discussion: Despite regular transfusions, osteopathy may occur at high rates in patients with thalassemia.

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Result of the fixation of tibial shaft fractures by the ınflatable ıntramedullary nail

The treatment strategy for tibial fractures differs with fracture location, displacement, soft tissue condition and comminution. Intramedullary nailing is considered the gold standard treatment for tibial fractures. In this study, the functional and radiographic results of tibial shaft fractures repaired with the inflatable intramedullary nail method were evaluated. From 2013 to 2015, 17 patients (10 males, 7 females; 8 right, 9 left; mean age 40.7 years) with closed tibial fractures repaired with inflatable intramedullary nails were assessed. The time from injury to surgery was an average of 2 days (range, 0–6 days). The mean time of hospital stay was 6 days (range, 2–19 days). The mean follow-up time was 15.4 months (range, 9–25 months). The mean time for patients to return to normal daily activities was 4.5 months (range, 4–6 months). The mean operation time was 47.5 min (range, 35–80 min). None of the patients had major perioperative or postoperative complications such as deep vein thrombosis, fat embolism, infection, or neurovascular complications except for the occurrence of delayed union in one patient. Only 4 patients had anterior knee pain and ankle pain during the early postoperative period. Inflatable intramedullary nails seem to be safe and effective in the treatment of tibial AO/OTA type A and B midshaft fractures.

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