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Öğe The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features(ELSEVIER SCIENCE INC, 2015) Eklioğlu, Beray Selver; Atabek, Mehmet Emre; Akyürek, Nesibe; Yuca, Sevil Arı; Pişkin, MesutBackground: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad. Case: We present the case of a 14-year-old female patient with signs of virilization at a pubertal age and with dysmorphic features, diagnosed as 46, XX OT-DSD. Conclusion: We want to point out that patients with 46 XX OT-DSD may present with virilization at puberty and may be accompanied by dysmorphic features.Öğe Heart-type fatty acid binding protein level as a tool in ıdentification of early cardiac effects of diabetic ketoacidosis(GALENOS YAYINCILIK, 2017) Yılmaz, Fatma Hilal; Yuca, Sevil Arı; Vatansev, Hüsamettin; Cimbek, Emine Ayça; Şen, Yasar; Yılmaz, Isa; Akyürek, FikretObjective: This study aimed to measure the serum levels of heart-type fatty acid binding protein (H-FABP) in patients presenting with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) and to determine its role in identifying early-period cardiac ischemia. Methods: This prospective study included 35 patients diagnosed with DKA, 20 patients diagnosed with DK, and 20 control subjects. H-FABP, creatine kinase-MB (CK-MB), and troponin I levels were investigated at presentation in patients with DKA and DK and in the control group. H-FABP values were measured again after acidosis correction in the DKA patients. Results: No statistically significant differences were found with respect to troponin I and CK-MB within the groups. The H-FABP values of DKA patients at presentation were found to be significantly higher than those of DK patients and the control group (p = 0.015). The H-FABP value of the DKA group was also found to be significantly higher than the value at hour 36 after acidosis correction (p = 0.0001). Conclusion: We would like to propose H-FABP as a potential marker for indicating myocardial ischemia.Öğe Hiperkalseminin eşlik ettiği cilt altı yağ nekrozu(2014) Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioğlu, Beray Selver; Yuca, Sevil ArıCilt altı yağ nekrozu nadir görülen; gövdede, kollarda, bacaklarda ve yanaklarda ağrılı, eritematöz plak ya da nodüller şeklinde ortaya çıkan yağ dokusunun inflamatuvar iyi huylu hastalığıdır. Cilt altı yağ nekrozu olan yenidoğanlarda sıklıkla asfiktik doğum, mekon- yum aspirasyonu, hipoksi, hipotermi, lokal travma öyküsü mevcuttur. Kendi kendini sınırlayan bir hastalık olmakla beraber ağır hiperkalsemi, hiperlipidemi, geçici trombositopeni gibi komplikasyonlara yol açabilir. Özellikle yaygın cilt tutulumu olan hastalarda hiperkalsemi hayatı tehdit eden bir komplikasyondur. Hiperkalsemiye maruziyet süresi uzarsa metastatik kalsifikasyonlar, nefrokal- sinosis ve böbrek yetmezliği, kalp problemleri ortaya çıkabilir. Bu yazıda bebeklik döneminde hiperkalsemin eşlik ettiği cilt altı yağ nekrozu vakası sunulmuştur.Öğe Partial Merosin Deficiency and Precocious Puberty(MODESTUM LTD, 2015) Eklioğlu, Beray Selver; Akyürek, Nesibe; Yuca, Sevil Arı; Atabek, Mehmet EmreThe congenital muscular dystrophies (CMD) are autosomal-recessive disorders. Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD). Precocious puberty in girls has been defined by Marshal and Tanner in 1969. In most of the cases, precocious puberty is idiopathic and is related to premature release of gonadotrophins. So far, the association between merosin deficiency and precocious puberty has not been identified. We report a case of a child with precocious puberty who was diagnosed with merosin deficiency in infancy.