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Genc B.,Sifa Hospital | Solak A.,Sifa Hospital | Doksoz O.,Dr. Behcet Uz Children Hospital | Tavli V.,Izmir University
Turk Kardiyoloji Dernegi Arsivi | Year: 2013

Coronary artery fistulas are rare vascular anomalies characterized by abnormal communication, devoid of a capillary system between the coronary artery and the major vessels or cardiac chambers. In this report, we present a 14-year-old male patient with ischemic symptoms, a left coronary artery to right ventricle fistula and agenesis of the right coronary artery. The anatomy of the coronary arteriovenous fistula was determined in detail through a dual source CT coronary angiography. The patient underwent open cardiac surgery because of ischemic symptoms and a residual fistula was detected after the surgery. © 2013 Turkish Society of Cardiology. Source


Buyukyavuz B.I.,Suleyman Demirel University of Turkey | Duman L.,Suleyman Demirel University of Turkey | Karaaslan T.,Suleyman Demirel University of Turkey | Turedi A.,Dr. Behcet Uz Children Hospital
Turkish Neurosurgery | Year: 2012

Placement of ventriculoperitoneal(VP) shunt is a worldwide accepted procedure for treatment of hydrocephalus. This procedure have various intra-abdominal complications, of which pseudocyst formation is a rare one. Common presentations of this complication are abdominal mass, abdominal pain, intestinal obstruction, and shunt dysfunction. In this paper, we report a case of 3 year-old boy with cerebrospinal fluid (CSF) pseudocyst of the VP shunt presenting with hyponatremic seizure. To the best of our knowledge, hyponatremic seizure has not been previously reported as a presentation of abdominal CSF pseudocyst in the literature. Our case has also the largest CSF pseudocyst with respect to body surface area of the child in the literature. Source


Ebarasi L.,Uppsala University | Ebarasi L.,Karolinska Institutet | Ashraf S.,Harvard University | Bierzynska A.,University of Bristol | And 16 more authors.
American Journal of Human Genetics | Year: 2015

Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS. Previously, we established a requirement for zebrafish crb2b, a conserved regulator of epithelial polarity, in podocyte morphogenesis. By characterization of a loss-of-function mutation in zebrafish crb2b, we now show that zebrafish crb2b is required for podocyte foot process arborization, slit diaphragm formation, and proper nephrin trafficking. Furthermore, by complementation experiments in zebrafish, we demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to NS in humans. These results implicate defects in podocyte apico-basal polarity in the pathogenesis of NS. © 2015 The American Society of Human Genetics. Source


Yesilkaya E.,Gulhane Military Medicine Academy | Bereket A.,Marmara University | Darendeliler F.,Istanbul University | Bas F.,Istanbul University | And 71 more authors.
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2015

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. Source


Darendeliler F.,Istanbul University | Yesilkaya E.,Gulhane Military Medicine Academy | Bereket A.,Marmara University | Bas F.,Istanbul University | And 71 more authors.
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2015

Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. Source

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