Polymorphisms in Tumour Necrosis Factor Alpha (TNFα) Gene in Patients with Acute Pancreatitis

Proinflammatory cytokines, such as tumour necrosis factor α (TNFα), play fundamental roles in the pathogenesis of acute pancreatitis (AP). The aim of this study was to determine if polymorphisms in the TNFα gene are associated with AP. Two polymorphisms located in the promoter region (positions −308 and −238) in TNFα gene were determined using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP) methods in 103 patients with AP and 92 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CI) were estimated using logistic regression analysis adjusted for age, sex, BMI and smoking. The frequencies of TNFα polymorphisms were both similar in patients with mild or severe pancreatitis, so were in pancreatitis patients and in controls. We suggest that both SNPs of TNFα are not genetic risk factor for AP susceptibility (OR = 1.63; 95% CI: 1.13−4.01 for TNFα−308 and OR = 0.86; 95% CI: 0.75−1.77 for TNFα−238)

Pulse Oksimetre Tasarım ve Analizinin Yapılması

oksimetrenin medikal alanda kullanım amacı oksijen saturasyonunun ekran üzerinde takip edilmesidir. Noninvazif bir yöntem olup arterlerdeki kanda bulunan hemoglobinin ışık absorpsiyonunu ölçerek oksijen saturasyonunu ve kalp atım sayısını hesaplayan yöntemdir. Bu çalışmada, ATmega328 mikrodenetleyicisi içeren Arduino Uno kullanılmıştır. Max30100 sensörü ise nabız ve oksijen saturasyonunu hesaplayacak devre tasarımında kullanılmıştır. Sensörün yapısında 660 nm ve 880 nm dalga boylarında kırmızı ve kızılötesi ışık kullanılmıştır. Oksihemoglobin daha fazla kızılötesi ışığı absorbe ederken deoksihemoglobin kırmızı ışığa daha çok duyarlıdır. Hemoglobine gelen ışığın bir kısmı absorbe olduktan sonra fotodiyota düşer ve burada bir akım meydana gelir. Oluşan akımın işlenmesinin ardından kandaki oksijen saturasyonu hesaplanır. I2C( kablolu seri haberleşme standardı ) )haberleşme protokolü uygulanarak Arduino Uno ile Max30100 sensörüyle tasarlanan Pulse oksimetre ( oksijen saturasyon ölçümünün yapıldığı ) devresi arasında bağlantı kurulmuştur. Sensörün üzerine parmağın değdirilmesiyle başlayan ölçüm sonuçları Arduino’ya bağlanan lcd ekran üzerinde gösterilmiştir

Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology