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Öğe 46 XY Gonodal Dysgenesis(2012) Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioğlu, Berkay Selver; Arı Yuca, Sevil46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped streak gonads, no sperm production, and presence of normal müllerian structures and often not diagnosed until puberty when secondary sexual characteristics fail to develop. The diagnosis of 46,XY DSD and 46,XY gonodal dysgenesis relies on clinical findings, gonadal histology, chromosome analysis testing to detect changes in genes.Because of increased risk for gonadal tumors(most commonly dysgerminoma) abdominal streak gonads should be surgically removed. Typically, hormone replacement therapy (HRT) is required from puberty onward. Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis.Öğe 46 Xy gonodal dysgenesis(2012) Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioğlu, Beray Selver; Arı, Yüca Sevil46,XY cinsiyet gelişim bozukluğu(46,XY CGB) 46,XY karyotip ile karakterize hafif yada ağır penoskrotal hipospadias, azalmış sperm üretimi ,disgenetik testisin olduğu ambigus genitalyadan matür uterus ve fallop tüplerinin olduğu geniş bir kliniğe sahiptir. 46, XY komplet gonadal disgenezi 46, XY karyotip ,normal kadın dış genitaldan sperm üretiminin olmadığı testis, streak gonad, yada normal müllerian yapıların varlığı ile karakterizedir.Sıklıkla seconder sex karakterilerinin gelişiminin geçiktiği puberte dönemine kadar tanısı gözden kaçabilir. 46,XY cinsiyet gelişim bozukluğu ve 46,XY gonodal disgenezi tanısı klinik bulgular,gonodal histoloji ve kromozom analizine dayanır.streak gonadlar artmış tümör riski(sıklıkla disgerminoma) nedeniyle cerrahi olarak çıkarılmalıdır. hormon replasman tedavisi puberteden itibaren gerekmektedir.bu yazıda 46, XY gonadal dysgenesizi olan bir vakanın klinik ,endokrinolojik ve genetik bulguları sunulmuştur.Öğe 46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?(FREUND PUBLISHING HOUSE LTD, 2007) Atabek, Mehmet Emre; Acar, Hasan; Cora, Tulin; Pirgon, Ozgur46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Mullerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported.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 Absence of Increase in Carotid Artery Intima-Media Thickness in Infants of Diabetic Mothers(GALENOS YAYINCILIK, 2011) Atabek, Mehmet Emre; Cagan, Havva Hasret; Eklioglu, Beray Selver; Oran, BulentObjective: Infants of diabetic mothers (IDM) are considered as a risk group for atherosclerosis. Increased aortic intima-media thickness has been reported in IDM. The purpose of this study was to assess carotid artery intima-media thickness (CA-IMT), left ventricular mass index (LVMI) and atherosclerotic risk factors in IDM. Methods: Thirty IDM and 25 healthy controls were included in the study. Of these infants, 14 were appropriate-for-gestational age (AGA) and 16 were large-for-gestational age (LGA). CA-IMT and LVMI were obtained by M-mode echocardiographic examination. The relationship between parameters of atherosclerosis and echocardiographic measurements was assessed by Pearson's correlation analysis. Results: LVMI was higher in LGA IDM when compared to AGA IDM and controls. CA-IMT was not significantly different between the groups and was also not related to atherosclerotic risk factors. Serum lipid and insulin levels were higher in LGA IDM when compared with AGA IDM and controls. There were no correlations between CA-IMT, LVMI and atherosclerotic risk factors. Conclusions: In contrast to previous reports indicating an increase in CA-IMT in IDM, no differences were found between IDM and controls in this study. Our results indicate that macrosomic IDM are prone to hypertrophic cardiomyopathy but not to atherosclerotic changes in the blood vessels.Öğe Achondroplasia associated with metabolic syndrome: Patient report(BLACKWELL PUBLISHING, 2008) Pirgon, Ozgur; Atabek, Mehmet Emre; Sert, Ahmet[Abstract not Available]Öğe Aortic intima-media thickness and lipid profile in neonates born to mothers with pre-eclampsia: weak or strong relations?(WALTER DE GRUYTER & CO, 2011) Atabek, Mehmet Emre[Abstract not Available]Öğe Arterial Wall Thickening and Stiffening in Children and Adolescents with Type 1 Diabetes(Elsevier Ireland Ltd, 2006) Atabek, Mehmet Emre; Kurtoğlu, Selim; Pirgon, Özgür; Baykara, MuratObjective: We evaluated structural and functional characteristics of the common carotid artery (CCA), a marker of early carotid atherosclerosis, and investigated their relation to metabolic and anthropometric parameters in children and adolescents with type 1 diabetes. Materials and methods: Non-invasive ultrasonographic measurements were made in 45 type I diabetic patients and 33 controls. Age, sex, and body mass index were matched between patients and controls. We investigated intima-media thickness (IMT), compliance, distensibility, diastolic wall stress (DWS) and incremental elastic modulus (IEM) of the CCA. Metabolic and anthropometric parameters such as serum lipids, plasma glycated haemoglobin, body mass index, waist-hip ratio and blood pressure were assessed. Results: The diabetic patients had significantly higher CCA-IMT than the controls (0.48 +/- 0.06 mm versus 0.33 +/- 0.07 mm; p < 0.001). The diabetic children had significantly higher values than the controls for DWS (1.18 +/- 0.29 mmHg x 102 versus 0.81 +/- 0.25 mmHg x 10(2); p < 0.001) and for IEM (1.26 +/- 0.57 mmHg x 10(3) versus 0.77 +/- 0.28 mmHg x 10(3); P < 0.001). The difference was not significant between patients and controls for arterial compliance and for distensibility (p > 0.05). In a multivariate regression model for all subjects, diabetic state was the best predictor of IMT (p < 0.001), DWS (p < 0.001) and IEM (p = 0.001). Conclusion: Our results suggested that children and adolescent patients with type I diabetes are associated with early impairment of CCA structure and function and that diabetic state may be the main risk factor for CCA wall stiffening and thickening, which are of considerable concern as possible early events in the genesis of atheroma.Öğe Assessment of Abnormal Glucose Homeostasis and İnsulin Resistance in Turkish Obese Children and Adolescents(Karger, 2007) Atabek, Mehmet Emre; Pirgon, Özgür; Kurtoğlu, SelimBackground: The worldwide increase in the prevalence of childhood obesity is reaching epidemic proportions and is associated with a dramatic rise in cases of type 2 diabetes. We determined the prevalence of impaired glucose regulation and insulin resistance in obese children and adolescents. Methods: A total of 196 obese children [SD score (SDS) of body mass index (BMI): 2.17 0.03], aged 7–18 years, including 86 male subjects, underwent an oral glucose tolerance test (1.75 g glucose/kg body weight). We used the modified WHO criteria adapted for children for abnormal glucose homeostasis. Homeostasis model assessment was used to estimate insulin resistance in all subjects. The insulin sensitivity index was also determined in subjects. Results: Of the total of 196 obese children, 15 (6.6%) had an abnormal fasting glucose level. Of the 196 obese children, 35 (18%) had impaired glucose tolerance (IGT) and 83 (43%) had insulin resistance. Of the 196 obese children were six (3%) diagnosed with type 2 diabetes. Insulin resistance indices were correlated well with the degree of abnormal glucose tolerance. Conclusions: IGT, insulin resistance and type 2 diabetes are far more common in obese Turkish children than previously thought. Early treatment in obese children and adolescents with IGT constitutes a strategy of reversing the progression to b-cell failure and preventing type 2 diabetes.Öğe Assessment of insulin sensitivity from measurements in fasting state and during an oral glucose tolerance test in obese children(WALTER DE GRUYTER GMBH, 2007) Atabek, Mehmet Emre; Pirgon, OzgurBackground. Few previous studies have examined the validity of the fasting glucose-to-insulin ratio (FGIR), homeostasis model assessment of insulin resistance (HONIA-IR) and quantitative insulin-sensitivity check index (QUICKI) in pediatric populations. Objective: To compare simple indices of insulin resistance calculated from fasting glucose and insulin levels with insulin sensitivity indices (area under the response curve [AUC(insulin)], insulin sensitivity index [ISI-composite]) determined by oral glucose tolerance testing (OGTT) in obese children. Methods: One hundred and forty-eight obese children and adolescents (86 girls and 62 boys, mean age: 10.86 +/- 3.08 years, mean body mass index (BMI): 27.7 +/- 4.2) participated in the study. OGTT was performed in all participants. After glucose and insulin measurements from OGTT, the children were divided into two groups according to the presence or absence of insulin resistance.. Insulin sensitivity indices obtained from the OGTT were compared between the groups. The total plasma glucose response and insulin secretion were evaluated from the AUC estimated by the trapezoid rule. Cut-off points, and sensitivity and specificity calculations were based on insulin resistance with receiver operating characteristic curve (ROC) analysis. Results: The prevalence of insulin resistance, glucose intolerance and dyslipidemia was 37.1%, 24.3% and 54% in obese children, respectively. The groups consisted of 93 children without insulin resistance (54 girls and 39 boys; mean age: 10.5 +/- 3.3 years; mean BMI: 27.0 +/- 4.2) and 55 children with insulin resistance (32 girls and 23 boys; mean age: 11.4 +/- 2.5 years; mean BMI: 27.9 +/- 3.9). There were significant differences in mean FGIR (10.0 +/- 7.2 vs 5.6 +/- 2.8, p < 0.001), HONIA-IR (3.2 +/- 2.3 vs 4.9 +/- 2.3, p < 0.001) and QUICKI (0.33 +/- 0.03 vs 0.30 +/- 0.02, p < 0.001) between the groups. The cut-off points for diagnosis of insulin resistance were < 5.6 for FGIR (sensitivity 61.8, specificity 76.3), > 2.7 for HONIA-IR (sensitivity 80, specificity 59.1), and < 0.328 for QUICKI (sensitivity 80, specificity 60.2). Conclusions: Indices derived from fasting samples for diagnosis of insulin sensitivity are reliable criteria in obese children and adolescents. HONIA-IR and QUICKI appeared to have similar sensitivity and specificity and to have higher sensitivity than FGIR.Öğe Association Between Apolipoprotein E Polymorphism and Subclinic Atherosclerosis in Patients with Type 1 Diabetes Mellitus(TURKISH PEDIATRIC ENDOCRINOLOGY & DIABETES SOCIETY, 2012) Atabek, Mehmet Emre; Ozkul, Yusuf; Eklioglu, Beray Selver; Kurtoglu, Selim; Baykara, MuratObjective: The most important cause of morbidity and mortality in type 1 diabetes mellitus (DM) is atherosclerosis. Apolipoprotein E (Apo E) polymorphism is accused of being the genetic risk factor for atherosclerosis. The aim of the present study was to determine which Apo E polymorphism was related to atherosclerosis in patients with type 1 DM. Methods: Seventy-four patients with type 1 DM were enrolled in the study. Age, diabetes duration, daily insulin dose, microalbuminuria, and major cardiovascular risk factors including anthropometric and metabolic parameters were assessed in each patient. Non-invasive ultrasonographic measurements were also performed. For determination of Apo E genotype, DNA was extracted from venous blood from all subjects using standard methods. Apo E genotyping was performed using a PCR-restriction fragment-length polymorphism assay. Results: Systolic blood pressure and carotid artery intima-media thickness (CA-IMT) were increased in subjects with E4/E4 polymorphism. According to univariate analysis, when adjusted for all risk factors, genotypes did not differ for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol and triglycerides (p>0.05). However, E3/E3, E3/E4 and E4/E4 genotypes were found to be associated with an increase in CA-IMT (p<0.001). Conclusions: Our results suggest that the polymorphism associated with atherosclerosis in type1 DM is Apo E4/E4.Öğe The association of common atrium and smith-lemli-opitz syndrome in an infant(2008) Sert, Ahmet; Pirgon, Özgür; Atabek, Mehmet Emre; Doğan, MustafaSmith-Lemli-Opitz sendromu düşük plazma kolesterol düzeylerinin eşlik ettiği çoklu doğumsal anomali/mental gerilik ile kendini gösteren nadir bir sendromdur. Klinik spektrum holoprozonsefali ya da letal malformasyonlarla prenatal ölümden normal zeka ya da hafif zihinsel bozukluk ve hafif fiziksel anormalliği olan hastalara kadar değişmektedir. Doğumsal kalp hastalığı Smith-Lemli-Opitz sendromlu hastaların yarısında bulunmaktadır. Bilgilerimize göre, Smith-Lemli-Opitz sendromu ve ortak atrium birlikteliği tıp literatüründe daha önceden açıklanmamıştır. Böyle birlikteliğin olduğu 4 aylık infant olguyu sunuyoruz.Öğe Atherogenic lipid profile and systolic blood pressure are associated with carotid artery intima-media thickness in children with Turner syndrome(KARGER, 2008) Atabek, Mehmet Emre; Pyrgon, Ozgur; Oran, Bulent; Guclu, Ridvan[Abstract not Available]Öğe Bilateral sacroiliitis following lsotretinoin treatment in an adolescent with Klinefelter syndrome(LIPPINCOTT WILLIAMS & WILKINS, 2007) Atabek, Mehmet Emre; Pirgon, Ozgur; Elmas, SefikaKlinefelter syndrome has been noted to have an association with several autoimmune and rheumatic diseases, including systemic lupus erythematosus, rheumatoid arthritis, and ankylosing spondylitis. We report a 14-year-old boy with Klinefelter syndrome who developed severe acne fulminans and bilateral sacroiliitis after testosterone and isotretinoin administration.Öğe A Case of Perlman Syndrome Presenting With Hemorrhagic Hemangioma(Lippincott Williams & Wilkins, 2006) Pirgon, Özgür; Atabek, Mehmet Emre; Akın, Fatih; Sert, AhmetThe presence of enlarged, echogenic kidneys in a newborn with generalized macrosomia points toward diagnosis of an overgrowth syndrome. These include Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes. Perlman syndrome is an autosomal recessively inherited overgrowth syndrome characterized by fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor. We report a male infant who exhibits typical features of Perlman syndrome with an unusual presentation. In this report, it is emphasized that hemangioma in neonatal period may be an unusual finding in Perlman syndrome.Öğe Congenital Anodontia in Ectodermal Dysplasia(FREUND PUBLISHING HOUSE LTD, 2008) Pirgon, Ozgur; Atabek, Mehmet Emre; Tanu, Ilhan Asya[Abstract not Available]Öğe Diabetes Mellitus in Asian Indian children and adolescents, Nandkeoliar MK et al., JPEM 2007; 20 : 1109-1114(WALTER DE GRUYTER GMBH, 2008) Atabek, Mehmet Emre[Abstract not Available]Öğe Diabetic Ketoacidosis, Thyroiditis and Alopecia Areata in a Child with Down Syndrome(SPRINGER INDIA, 2009) Pirgon, Ozgur; Atabek, Mehmet Emre; Sert, AhmetA 10-year-old girl with Down syndrome and alopecia areata was admitted with severe ketoacidosis. She had high blood glucose level: 615 mg/dL and her HbAlc level was 13.3 %. After the control of ketoacidosis and reduction of the plasma glucose level, we found low free T4 level and high TSH levels. Thyroid peroxidase antibodies titer was 1383 IU/mL and both gliadin and endomysial antibodies were negative. This was the first report of a child with Down syndrome showing type 1 diabetes combined with alopecia areata and autoimmune thyroid disease. [Indian J Pediatr 2009; 76 (12) : 1263-1264] E-mail: ozpirgon@hotmail.comÖğe Different Clinical Features of Amitraz Poisoning in Children(Arnold, Hodder Headline Plc, 2002) Atabek, Mehmet Emre; Aydın, K.; Erkul, I.Objective: To evaluate clinical experience of amitraz poisoning in children. Methods: In this study, the clinical and laboratory features of amitraz poisoning in 14 children are presented and compared with previous studies. Results: This study revealed that clinical manifestations of poisoning by oral and dermal routes appeared within 30-150 min, and that central nervous system (CNS) depression, which is the most important sign, improved within 6-24 hours and other signs within 24-72 hours. Unlike the findings in other studies, three severe cases in our study had reversible mydriasis and one of them required resuscitation because of cardiopulmonary arrest occurring as a result of serious respiratory depression. In addition, hepatic function test levels had increased in these three cases, and aspiration pneumonitis existed because of emesis in two of them. Conclusion: There is little information in the literature about dermal poisoning. The signs and symptoms of dermal poisoning were relatively mild compared with oral poisoning, and there were no topical signs. The classical signs of alpha(2)-adrenergic stimulation such as marked sinusal bradycardia and mydriasis as reported in many poisoning cases of animals have not been reported before our three severe cases among children.Öğe Effect of metformin and rosiglitazone in a prepubertal boy with Alstrom syndrome, Sinha SK et al, JPEM 2007; 20 : 1045-1052(FREUND PUBLISHING HOUSE LTD, 2008) Atabek, Mehmet Emre[Abstract not Available]
