Ankara Pediatric Hematology and Oncology Training Hospital

Ankara, Turkey

Ankara Pediatric Hematology and Oncology Training Hospital

Ankara, Turkey

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Arya V.B.,Great Ormond Street Hospital for Children NHS Foundation Trust | Arya V.B.,University College London | Senniappan S.,Great Ormond Street Hospital for Children NHS Foundation Trust | Senniappan S.,University College London | And 8 more authors.
PLoS ONE | Year: 2014

Context: Congenital hyperinsulinism (CHI), the commonest cause of persistent hypoglycaemia, has two main histological subtypes: diffuse and focal. Diffuse CHI, if medically unresponsive, is managed with near-total pancreatectomy. Postpancreatectomy, in addition to persistent hypoglycaemia, there is a very high risk of diabetes mellitus and pancreatic exocrine insufficiency. Setting: International referral centre for the management of CHI. Patients: Medically unresponsive diffuse CHI patients managed with near-total pancreatectomy between 1994 and 2012. Intervention: Near-total pancreatectomy. Main Outcome Measures: Persistent hypoglycaemia post near-total pancreatectomy, insulin-dependent diabetes mellitus, clinical and biochemical (faecal elastase 1) pancreatic exocrine insufficiency. Results: Of more than 300 patients with CHI managed during this time period, 45 children had medically unresponsive diffuse disease and were managed with near-total pancreatectomy. After near-total pancreatectomy, 60% of children had persistent hypoglycaemia requiring medical interventions. The incidence of insulin dependent diabetes mellitus was 96% at 11 years after surgery. Thirty-two patients (72%) had biochemical evidence of severe pancreatic exocrine insufficiency (Faecal elastase 1<100 mg/g). Clinical exocrine insufficiency was observed in 22 (49%) patients. No statistically significant difference in weight and height standard deviation score (SDS) was found between untreated subclinical pancreatic exocrine insufficiency patients and treated clinical pancreatic exocrine insufficiency patients. Conclusions: The outcome of diffuse CHI patients after near-total pancreatectomy is very unsatisfactory. The incidence of persistent hypoglycaemia and insulin-dependent diabetes mellitus is very high. The presence of clinical rather than biochemical pancreatic exocrine insufficiency should inform decisions about pancreatic enzyme supplementation. © 2014 Arya et al.


Damla Kotan L.,Cukurova University | Ian Hutchins B.,U.S. National Institutes of Health | Ozkan Y.,Firat University | Demirel F.,Ankara Pediatric Hematology and Oncology Training Hospital | And 9 more authors.
American Journal of Human Genetics | Year: 2014

Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS.We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.. © 2014 by The American Society of Human Genetics. All rights reserved.


PubMed | Cukurova University, U.S. National Institutes of Health, Frat University and Ankara Pediatric Hematology and Oncology Training Hospital
Type: Journal Article | Journal: American journal of human genetics | Year: 2014

Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS. We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.


Demirel F.,Ankara Pediatric Hematology and Oncology Training Hospital | Tepe D.,Ankara Pediatric Hematology and Oncology Training Hospital | Kara O.,Ankara Pediatric Hematology and Oncology Training Hospital | Esen I.,Ankara Pediatric Hematology and Oncology Training Hospital
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2013

Objective Screening of complications is an important part of diabetes care. The aim of this study was to investigate diabetic complications and related risk factors in adolescents with type 1 diabetes mellitus (T1DM). Methods: This cross-sectional study was conducted on type 1 diabetics who were over 11 years of age or had a diabetes duration of 2 years and included 155 adolescents with T1DM (67 male, 88 female). The mean age of the patients was 14.4±2.1 years. Mean diabetes duration was 6.3±2.9 years. The patients were screened for diabetic nephropathy, retinopathy and peripheral neuropathy. Results: Mean glycosylated hemoglobin (HbA1c) level of the study group was 8.4%. The frequency of microalbuminuria and peripheral neuropathy were 16.1% and 0.6%, respectively. None of the patients had diabetic retinopathy. Dyslipidemia and hypertension rates were 30.3% and 12.3%, respectively. Risk factors associated with microalbuminuria were hypertension, higher HbA1c levels, longer diabetes duration and dyslipidemia. Conclusion: Early diagnosis and treatment of hypertension and dyslipidemia as well as achieving a better metabolic control are important in prevention or postponement of complications in patients with T1DM. Yearly screening for diabetic nephropathy should be started 2 years after the onset of the diabetes. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.


PubMed | Ankara Pediatric Hematology and Oncology Training Hospital
Type: Journal Article | Journal: Journal of clinical research in pediatric endocrinology | Year: 2013

Screening of complications is an important part of diabetes care. The aim of this study was to investigate diabetic complications and related risk factors in adolescents with type 1 diabetes mellitus (T1DM).This cross-sectional study was conducted on type 1 diabetics who were over 11 years of age or had a diabetes duration of 2 years and included 155 adolescents with T1DM (67 male, 88 female). The mean age of the patients was 14.42.1 years. Mean diabetes duration was 6.32.9 years. The patients were screened for diabetic nephropathy, retinopathy and peripheral neuropathy.Mean glycosylated hemoglobin (HbA1c) level of the study group was 8.4%. The frequency of microalbuminuria and peripheral neuropathy were 16.1% and 0.6%, respectively. None of the patients had diabetic retinopathy. Dyslipidemia and hypertension rates were 30.3% and 12.3%, respectively. Risk factors associated with microalbuminuria were hypertension, higher HbA1c levels, longer diabetes duration and dyslipidemia.Early diagnosis and treatment of hypertension and dyslipidemia as well as achieving a better metabolic control are important in prevention or postponement of complications in patients with T1DM. Yearly screening for diabetic nephropathy should be started 2 years after the onset of the diabetes.

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