Behzat Özkan

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OBJECTIVE Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune(More)
CONTEXT Recently several patients with resistance to thyroid hormone (RTH)-α due to T3 receptor-α (TRα) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests. OBJECTIVE The objective of the(More)
A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate(More)
Nutritional rickets (NR) is still the most common form of growing bone disease despite the efforts of health care providers to reduce the incidence of the disease. Today, it is well known that the etiology of NR ranges from isolated vitamin D deficiency (VDD) to isolated calcium deficiency. In Turkey, almost all NR cases result from VDD. Recent evidence(More)
The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. To investigate CYP27B1 mutations, we studied 8 patients from 7 unrelated families. All coding exons and intron-exon boundaries of CYP27B1 gene were amplified by(More)
OBJECTIVE Insulin-like growth factor binding protein-4 (IGFBP-4), inhibits IGF actions under a variety of experimental conditions. Parathyroid hormone (PTH), 1.25-hydroxy(OH)vitamin D, IGF-I, IGF-II and transforming growth factor (TGF)-b are the major regulators of IGFBP-4 production in vitro. However, little is known about the in vivo regulation of(More)
AIM To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship. METHODS(More)
BACKGROUND To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. METHODS Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified(More)
BACKGROUND The incidence of food-induced allergic reactions is gradually increasing. Most of these allergic reactions occur in restaurants. Therefore, this study aims to investigate the awareness of restaurant personnel about food allergy. METHODS The training, knowledge levels on food allergy, and comfort level in providing safe food of 351 restaurant(More)
We aimed to determine the accuracies of point-of-care ultrasound (PoCUS) and stethoscopes as part of the physical examinations of patients with dyspnea. Three emergency medicine specialists in each of two groups of ultrasound and stethoscope performers underwent didactic and hands-on training on PoCUS and stethoscope usage. All the patients enrolled were(More)