43 results on '"Mehmet Nuri Ozbek"'
Search Results
2. Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
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Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, and Melis Kose
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Endocrinology ,Genetics ,Molecular Biology - Published
- 2023
3. Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus (eng)
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Burcu Kardaş, Ömer Kardaş, Meliha Demiral, Edip Ünal, Mehmet Nuri Ozbek, and Tıp Fakültesi
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Psychiatry and Mental health ,Type 1 diabetes mellitus, children, adolescents, adhd, psychiatric disorder - Abstract
Objective: The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult. Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in children and adolescents with Type 1 Diabetes. Method: In our study, depending on the number of patients, good and moderate controls were evaluated as a single group, and HbA1c levels of 8.5 and below were included in this group. Children for Depression Inventory (CDI), Screen for Child Anxiety-Related Emotional Disorders (SCARED), Turgay Child and Adolescent Behavioral Disorders Based on DSM-IV Screening and Evaluation Scale were applied. The case and parents were evaluated with K-SADS-PL.Among 778 diabetic patients who were followed up in the pediatric endocrinology clinic, 73 cases between the ages of 8 and 17 who were followed up regularly, who did not have any comorbidities and who accepted to participate in the study were evaluated psychiatrically. Results: Of the 73 cases included in the study, 29 were accepted as the patients with good glycemic control (HbA1c 8.5mg / dl). In cases with poor glycemic control, parents' education level and income level were significantly lower, while the rate of attention deficit and hyperactivity disorder, major depressive disorder, social anxiety disorder and psychopathology was significantly higher. Discussion: The findings of this study revealed that there are many factors affecting glycemic control and there is a strong relationship between glycemic control and psychopathologies.
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- 2022
4. Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population
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Muhittin Çelik, Osman Akdeniz, Mehmet Nuri Ozbek, and Ozgur Kirbiyik
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Male ,Galactosemias ,Infectious Diseases ,Neonatal Screening ,Sepsis ,Pediatrics, Perinatology and Child Health ,Mutation ,Infant, Newborn ,Humans ,Infant ,Female ,Retrospective Studies - Abstract
Background Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal period after the neonate is fed with milk that contains galactose. Most patients are presented with jaundice, hepatomegaly, hypoglycemia and cataracts. Objective We aimed to document the clinical, molecular characteristics, regional estimated incidence and time of diagnosis in newborn with CG. Materials and method The data of 63 newborn with CG who were diagnosed and followed up between January 2011 and January 2018 were analyzed retrospectively. Results During the study period, 63 (33 boys and 30 girls) newborns were diagnosed with CG. The median gestational age was 39 weeks (33–42). Major presenting symptoms were jaundice 90.5% and cataract 41.2%. The mean age at first symptom was 12 ± 7.4 days while the mean age at diagnosis was 18.9 ± 10.6 days. Nearly half of the patients (55.5%) were diagnosed later than the postnatal 15th day. Genetic analysis was performed on 56 patients and homozygous Q188R mutation was found in 92.8%. There were signs of sepsis in 33.3% of the cases. Six patients died due to sepsis. There was consanguinity in 84.1% of the parents and regional estimated incidence was calculated as 1 in 6103 live births. Conclusion Q188R mutation was found in 92.8% of our cases. The regional estimated incidence was found as 1 in 6103 live births. Our study strongly supports that galactosemia should be included in the national newborn screening program.
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- 2022
5. The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from Turkey
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Gul Yesiltepe Mutlu, Elif Eviz, Belma Haliloglu, Heves Kirmizibekmez, Fatma Dursun, Servan Ozalkak, Atilla Cayir, Beste Yuksel Sacli, Mehmet Nuri Ozbek, Huseyin Demirbilek, Sukru Hatun, Mutlu, Gül Yeşiltepe (ORCID 0000-0003-3919-7763 & YÖK ID 153511) Eviz, Elif, Hatun, Şükrü (ORCID 0000-0003-1633-9570 & YÖK ID 153504), Haliloğlu, Belma, Kırmızıbekmez, Heves, Dursun, Fatma, Özalkak, Servan, Cayır, Atilla, Saçlı, Beste Yüksel, Özbek, Mehmet Nuri, Demirbilek, Hüseyin, and School of Medicine
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Covid-19 ,Pandemic ,Early puberty ,Girls ,Cross-Sectional Studies ,Turkey ,Puberty ,COVID-19 ,Humans ,Puberty, Precocious ,Female ,General Medicine ,Child ,Pandemics ,Pediatrics ,Retrospective Studies - Abstract
Backgrounds: furing the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of the characteristics of girls who had been referred for evaluation of precocious puberty in five different pediatric endocrinology units, before and during the pandemic. Methods: the study participants comprised 359 girls who were assigned into 2 groups a pre-pandemic group (n:214) and a pandemic group (n:145). Those participants (n:99) who had medical records in the follow-up period were classified into 3 subgroups according to the time of presentation and follow-up visits (group-1: first admission and follow-up visit before the pandemic, group-2: first admission before the pandemic, the follow-up visit during the pandemic, group-3: first admission and follow-up visit during the pandemic). Results: the age at presentation and age at pubertal onset were both significantly lower in the pandemic group than those in the pre-pandemic group(8.1 vs 8.6, p: < 0.001,7.7 vs 7.9,p:0.013, respectively). There was no significant difference between the body mass index standard deviation scores (BMI-SDS) values of the groups (0.57 vs 0.51, p:0.430). The initiation rate of pubertal suppression therapy at the time of presentation was significantly higher in the pandemic group compared to that of the pre-pandemic group (7.7%vs 27.5%), and in groups-2 & 3 compared to group-1, during follow-up (20%&44%vs 8%). Conclusion: our research showed that the onset of puberty occurred earlier in the pandemic period compared to the previous year, and the need for pubertal suppression therapy increased during the pandemic., NA
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- 2022
6. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
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Meliha Demiral, Edip Unal, Huseyin Demirbilek, Nezahat Doğan Karaşin, Riza Taner Baran, and Mehmet Nuri Ozbek
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0301 basic medicine ,endocrine system ,Pediatrics ,medicine.medical_specialty ,Psychomotor retardation ,business.industry ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Adrenocorticotropic hormone ,medicine.disease ,03 medical and health sciences ,Epilepsy ,030104 developmental biology ,0302 clinical medicine ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Convulsion ,medicine ,Etiology ,ACTH receptor ,medicine.symptom ,Isolated Glucocorticoid Deficiency ,business ,Hydrocortisone ,medicine.drug - Abstract
Objectives Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP) is a transmembrane protein involved in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. In the present case series, we evaluate the clinical characteristics and long-term follow-up of six cases with FGD due to mutations in MC2R and MRAP. Case presentation Data of six cases with FGD (five with mutations in MC2R and one with a mutation in MRAP) who were being followed at our paediatric endocrine centre was evaluated. Diagnosis of FGD was considered in case of elevated ACTH and inappropriately low cortisol level, and exclusion of other aetiologies. The main presenting complaints were hyperpigmentation and hypoglycaemic convulsion in all cases. During a follow-up period of 26–115 months, one patient with homozygous 560delT mutation in MC2R, one female with G226R mutation in MC2R and one female with IVS3ds+1delG mutation in MRAP had a neurodevelopmental delay (NDD), while the other three patients had normal neurodevelopment. Conclusions FGD patients due to MC2R and MRAP mutations with early diagnosis and compliance to the hydrocortisone therapy had normal neurodevelopment, while delay in diagnosis and poor compliance was associated with severe hypoglycaemic convulsions and subsequent complications NDD.
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- 2021
7. Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
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Meliha Demiral, Sara Al-Khawaga, Mehmet Nuri Ozbek, Yilmaz Kor, Hasan Önal, Andrew T. Hattersley, Gulcin Arslan, Edip Unal, Belma Haliloglu, Amel Khalifa, Maryam Al Maadheed, Bilgin Yüksel, Fatih Gurbuz, Sarah E. Flanagan, Khalid Hussain, Dogus Vuralli, Abdullah Bereket, Gonul Buyukyilmaz, Ruken Yıldırım, Amira Saeed, Emine Demet Akbaş, Riza Taner Baran, Huseyin Demirbilek, Atilla Cayir, Melek Yildiz, and Elisa De Franco
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Male ,0301 basic medicine ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Biochemistry ,Gastroenterology ,Infant, Newborn, Diseases ,chemistry.chemical_compound ,0302 clinical medicine ,Endocrinology ,Genotype ,Child ,Cholestasis ,PTF1A gene ,Enhancer Elements, Genetic ,medicine.anatomical_structure ,Child, Preschool ,Female ,neonatal diabetes ,Pancreas ,AcademicSubjects/MED00250 ,medicine.medical_specialty ,Anemia ,pancreas agenesis/hypoplasia ,030209 endocrinology & metabolism ,Context (language use) ,permanent ,03 medical and health sciences ,Diabetes mellitus ,Internal medicine ,Diabetes Mellitus ,medicine ,Humans ,Exocrine pancreatic insufficiency ,Clinical Research Articles ,Genetic Association Studies ,business.industry ,Biochemistry (medical) ,Infant, Newborn ,Infant ,medicine.disease ,030104 developmental biology ,chemistry ,Mutation ,Exocrine Pancreatic Insufficiency ,Glycated hemoglobin ,Liver function ,business ,Follow-Up Studies ,Transcription Factors - Abstract
Context Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized. Objective To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. Setting Twelve tertiary pediatric endocrine referral centers. Patients Thirty patients with diabetes caused by PTF1A enhancer mutations. Median follow-up duration was 4 years. Main Outcome Measures Presenting and follow-up clinical (birthweight, gestational age, symptoms, auxology) and biochemical (pancreatic endocrine and exocrine functions, liver function, glycated hemoglobin) characteristics, pancreas imaging, and genetic analysis. Results Five different homozygous mutations affecting conserved nucleotides in the PTF1A distal enhancer were identified. The commonest was the Chr10:g.23508437A>G mutation (n = 18). Two patients were homozygous for the novel Chr10:g.23508336A>G mutation. Birthweight was often low (median SDS = –3.4). The majority of patients presented with diabetes soon after birth (median age of diagnosis: 5 days). Only 2/30 presented after 6 months of age. All patients had exocrine pancreatic insufficiency. Five had developmental delay (4 mild) on long-term follow-up. Previously undescribed common features in our cohort were transiently elevated ferritin level (n = 12/12 tested), anemia (19/25), and cholestasis (14/24). Postnatal growth was impaired (median height SDS: –2.35, median BMI SDS: –0.52 SDS) with 20/29 (69%) cases having growth retardation. Conclusion We report the largest series of patients with diabetes caused by PTF1A enhancer mutations. Our results expand the disease phenotype, identifying recurrent extrapancreatic features which likely reflect long-term intestinal malabsorption.
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- 2020
8. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
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Meliha Demiral, Huseyin Demirbilek, Mehmet Nuri Ozbek, Serdar Ceylaner, Edip Unal, and Ceren Damla Durmaz
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medicine.medical_specialty ,Polydactyly ,business.industry ,Endocrinology, Diabetes and Metabolism ,Micropenis ,medicine.disease ,Penetrance ,Hypoplasia ,Ectopic Posterior Pituitary ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Cholestasis ,030220 oncology & carcinogenesis ,Internal medicine ,GLI2 ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Medicine ,030211 gastroenterology & hepatology ,business - Abstract
A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the neonatal period. He had bilateral postaxial polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination revealed a diagnosis of multiple pituitary hormone deficiency. There was severe anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on magnetic resonance imaging which suggested pituitary stalk interruption syndrome with no other midline structural abnormality. Molecular genetic analysis revealed a novel heterozygous splicing IVS11-2A>C(c.1957-2A>C) mutation detected in the GLI2 gene. His father and a six-year-old brother with the identical mutation also had unilateral postaxial polydactyly and mid-facial hypoplasia although there was no pituitary hormone deficiency. This novel heterozygous GLI2 mutation detected appears to present with an extremely variable clinical phenotype, even in related individuals with an identical mutation, suggesting incomplete penetrance of this GLI2 mutation.
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- 2020
9. Neonatal diabetes due to homozygous <scp> INS </scp> gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life
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Mehmet Nuri Ozbek, Nilufer Okur, Huseyin Demirbilek, Kıymet Çelik, Khalid Hussain, and Meliha Demiral
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Pediatrics ,medicine.medical_specialty ,Diabetic ketoacidosis ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Remission, Spontaneous ,Cousin ,Gene mutation ,medicine.disease_cause ,Neonatal diabetes mellitus ,Recurrence ,Diabetes mellitus ,Diabetes Mellitus ,Internal Medicine ,medicine ,Humans ,Insulin ,Promoter Regions, Genetic ,Mutation ,business.industry ,Infant, Newborn ,Promoter ,medicine.disease ,Pedigree ,Phenotype ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting within the first 6 months of life. INS gene promoter mutations have been shown to cause both remitting/relapsing and permanent NDM. We, herein, present three interesting patients with INS gene promoter mutations. Two cousins with an identical homozygous c.-331C > G mutation presented with NDM. The first cousin had nonremitting diabetes and still requires multidose insulin injections at the current age of 6.1 years. However, the other cousin's diabetes remitted at the age of 9 months, and she is still in remission at the age of 3 years with no medication or dietary intervention required (latest HbA1c was 4.9%). The third patient had NDM also due to a homozygous INS promoter c.-331C>A mutation. Her diabetes remitted at the age of 2 months and relapsed at the age of 2.6 years with severe diabetic ketoacidosis (DKA). Distinct clinical phenotype and relapse with severe DKA in one of the three cases suggest that INS promotor mutations can cause a heterogeneous phenotype and even cases exhibiting remission can relapse unpredictably. Therefore, as the age of relapse is unpredictable, close follow-up and family education on diabetes symptoms are essential for cases with remitting/relapsing diabetes due to INS gene mutations.
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- 2020
10. Incidence of Autoimmune Thyroid Disease in Patients with Type 1 Diabetes
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Edip Unal, Meliha Demiral, Murat Öcal, Birsen Baysal, and Mehmet Nuri Ozbek
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Pediatrics, Perinatology and Child Health - Abstract
INTRODUCTION: In this study, it was aimed to determine the frequency of autoimmune thyroid disease (OITH) in children and adolescent patients who were followed-up with type 1 diabetes mellitus(T1DM) and to evaluate its relationship with other parameters.
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- 2020
11. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
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Huseyin Demirbilek, Birsen Baysal, Edip Unal, Mehmet Nuri Ozbek, Mehmet Salih Karaca, Riza Taner Baran, and Meliha Demiral
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Male ,medicine.medical_specialty ,Pituitary gland ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Hypothalamus ,Fourth ventricle ,Sensitivity and Specificity ,Gastroenterology ,Hypopituitarism ,Growth hormone deficiency ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Anterior pituitary ,Predictive Value of Tests ,Pons ,Internal medicine ,medicine ,Humans ,Patient group ,Child ,Dwarfism, Pituitary ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Puberty ,Magnetic resonance imaging ,Organ Size ,030206 dentistry ,medicine.disease ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Case-Control Studies ,Pituitary Gland ,Pediatrics, Perinatology and Child Health ,Etiology ,Female ,business ,030217 neurology & neurosurgery - Abstract
Backgrounds Limitations in the evaluation of the pituitary size and changes according to pubertal status make its validity questionable. Recently, in a small-scale study, pons ratio (PR) has been suggested as a more sensitive tool for diagnosis and etiological evaluation of growth hormone deficiency (GHD). The aim of the study is to evaluate the diagnostic value of PR in the diagnosis of GHD. Methods We retrospectively evaluated the pituitary magnetic resonance imaging (MRI) of 133 patients with a diagnosis of GHD. Primary axis (PA) was assigned as a line crossing the mid-sagittal dorsum sella and fourth ventricle. PR was defined as the pons height above the PA divided by total pons height. The PR of patients with GHD was compared to subjects without GHD. Results Study included 133 patients with GHD and 47 controls. In total, 121 (91%) patients had isolated GHD and 12 (9%) patients had multiple pituitary hormone deficiency. The PR of the patient group (mean: 0.32 ± 0.89; range: 0.14–0.63) was significantly higher than controls (mean: 0.26 ± 0.067; range 0.19–0.44) (p: 0.000). The optimal cut-off value of PR for GHD diagnosis was 0.27 (sensitivity 71% specificity 56%). There was a negative correlation between anterior pituitary height (APH)-SDS and PR (p: 0.002; r: −0.27). APH was increased, but PR remained unchanged in pubertal patients (p: 0.089). Conclusions PR measurement is a noninvasive, practical method with a cost-benefit clinical value. As it is not affected by pubertal status, PR is potentially a more sensitive tool for evaluation of pituitary gland in GHD patients compared to APH.
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- 2020
12. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia
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Feyza Darendeliler, Edip Unal, Sukran Poyrazoglu, Zehra Aycan, Fatih Gurbuz, Ayşe Pınar Öztürk, Şenay Savaş-Erdeve, Firdevs Bas, Elif Ozsu, Nesibe Akyürek, Meliha Demiral, Olcay Evliyaoğlu, Mehmet Nuri Ozbek, Semra Cetinkaya, Bilgin Yüksel, Merih Berberoğlu, and Zeynep Şıklar
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Adult ,Male ,Pediatrics ,Pathology ,medicine.medical_specialty ,46, XX Disorders of Sex Development ,Adolescent ,Hormone Replacement Therapy ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,xx ,RJ1-570 ,Diseases of the endocrine glands. Clinical endocrinology ,Young Adult ,Endocrinology ,Sex Reassignment Surgery ,Humans ,congenital adrenal hyperplasia ,University education ,Medicine ,Sex organ ,In patient ,Congenital adrenal hyperplasia ,Stage (cooking) ,Child ,Gender Dysphoria ,Retrospective Studies ,Hysterectomy ,Adrenal Hyperplasia, Congenital ,Height ,business.industry ,46,XX ,Final height ,Infant ,RC648-665 ,medicine.disease ,Virilism ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Educational Status ,Female ,Original Article ,final height ,National database ,business ,Follow-Up Studies - Abstract
Objective To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male. Methods A national database was created. The data of patients were asked to be recorded in the data form. Results The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%. Conclusion It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.
- Published
- 2021
13. Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism
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Mehmet Nuri Ozbek, Nezir Ozgun, Osman Akdeniz, Mehmet Şah İpek, and Muhittin Çelik
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Male ,business.industry ,medicine.medical_treatment ,Maple syrup urine disease ,Infant, Newborn ,Retrospective cohort study ,Hemodiafiltration ,Continuous venovenous hemodiafiltration ,Metabolism ,medicine.disease ,Peritoneal dialysis ,Continuous venovenous haemodiafiltration ,Treatment Outcome ,Ammonia ,Renal Dialysis ,Urea cycle ,Anesthesia ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Female ,business ,Metabolism, Inborn Errors ,Dialysis ,Retrospective Studies - Abstract
Several recent studies have reported that toxic metabolites accumulated in the body as a product of inborn errors of metabolism (IEM) are eliminated more rapidly with continuous venovenous hemodiafiltration (CVVHDF) than with peritoneal dialysis (PD). However, there is still uncertainty about the impacts of dialysis modalities on the short-term outcome. Here, it was aimed to investigate the effects of dialysis modalities on the short-term outcome. This retrospective study included 40 newborn infants who underwent PD (29 patients) or CVVHDF (11 patients) due to inborn errors of metabolism at a tertiary centre, between June 2013 and March 2018. The outcomes and the potential effects of the dialysis modality were evaluated. Of 40 patients, 21 were urea cycle defect, 14 were organic academia, and 5 were maple syrup urine disease. The median 50% reduction time of toxic metabolites were shorter in patients treated with CVVHDF (p 0.05). Catheter blockage was the most common complication observed in PD group (24.1%), whereas in CVVHDF group hypotension and filter blockage were more common. There was no significant difference in mortality between dialysis groups (38% vs. 45.4%, p 0.05). In patients with hyperammonaemia, duration of plasma ammonia 200 μg/dL was the most important factor influencing mortality (OR 1.05, CI 1.01-1.09, p = 0.007).Conclusion: This study showed that CVVHDF is more efficient than PD to rapidly eliminate toxic metabolites caused by IEM in newborn infants, but not in improving survival. What is Known: •Toxic metabolites are eliminated more rapidly with CVVHDF than with PD. •Higher complication rates were reported with rigid peritoneal catheters in PD and catheter blockage in CVVHDF. What is New: •Prolonged duration of plasma ammonia levels above a safe limit (200 μg/dL) was associated with increased mortality. •Lower catheter-related complication rates may have been associated with the use of Tenckhoff catheters in PD and the use of right internal jugular vein in CVVHDF.
- Published
- 2019
14. Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
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Ahmet Anık, Edip Unal, Cengiz Kara, Hasan Önal, Gönül Çatlı, Tugba Baris, Mehmet Nuri Ozbek, Goncagül Haklar, Firdevs Bas, Ali Yaman, Tulay Guran, Huseyin Demirbilek, Emregul Isik, Mehmet Keskin, Seyit Ahmet Uçaktürk, Karl-Heinz Storbeck, Zehra Yavas Abali, Fatma Dursun, Tugba Cetin, Serap Turan, Atilla Cayir, Muammer Buyukinan, Henrik Falhammar, Abdullah Bereket, Melek Yildiz, and Feyza Darendeliler
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0301 basic medicine ,Male ,medicine.medical_specialty ,Adolescent ,Hydrocortisone ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Biochemistry ,Gastroenterology ,Gas Chromatography-Mass Spectrometry ,Cohort Studies ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,medicine ,Adrenal insufficiency ,Humans ,Congenital adrenal hyperplasia ,In patient ,Genitalia ,Steroid 11-beta-hydroxylase ,Age of Onset ,Child ,Adrenal Hyperplasia, Congenital ,Hydroxylase deficiency ,business.industry ,Biochemistry (medical) ,Infant, Newborn ,Infant ,medicine.disease ,Body Height ,Hormones ,030104 developmental biology ,030220 oncology & carcinogenesis ,Child, Preschool ,Cohort ,Mutation ,Androgens ,Steroid 11-beta-Hydroxylase ,Female ,Differential diagnosis ,business ,Hormone ,Adrenal Insufficiency - Abstract
Background Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD). Objective To characterize a multicenter pediatric cohort with 11βOHD. Method The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Results 102 patients (C-11βOHD, n = 92; NC-11βOHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [−1.85 SD score (SDS)] and male 160.4 cm (−2.56 SDS).None of the NC-11βOHD girls had ambiguous genitalia (C-11βOHD 100%), and none of the NC-11βOHD patients were hypertensive (C-11βOHD 50%). Compared to NC-11βOHD, C-11βOHD patients were diagnosed earlier (1.33 vs 6.9 years; P 2.2, Conclusion NC-11βOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11βOHD.
- Published
- 2020
15. A Retrospective Analysis of Children and Adolescents With Diabetic Ketoacidosis in the Intensive Care Unıt: Is It Significant that the Blood Ketone Level Becomes Negative in Diabetic Ketoacidosis?
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Sibel Tanriverdi Yilmaz, Mehmet Nur Talay, Muhammed Asena, Mehmet Nuri Ozbek, Edip Unal, Murat Kangin, and Meliha Demiral
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Pediatrics ,medicine.medical_specialty ,Diabetic ketoacidosis ,endocrine system diseases ,030204 cardiovascular system & hematology ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,law ,Diabetes mellitus ,medicine ,Acidosis ,Pediatric intensive care unit ,Type 1 diabetes ,dibetes mellitus ,business.industry ,diabetic ketoasidosis ,ketone ,General Engineering ,Glasgow Coma Scale ,Endocrinology/Diabetes/Metabolism ,nutritional and metabolic diseases ,medicine.disease ,Intensive care unit ,medicine.symptom ,Hyponatremia ,business ,030217 neurology & neurosurgery - Abstract
Introduction: Diabetic ketoacidosis (DKA) is the most common cause of acute morbidity and mortality in children and adolescents with type 1 diabetes mellitus (T1DM). Because DKA management is associated with complications, endocrine communities have published guidelines and attempted to set standards for DKA diagnosis and management worldwide. In this study, for the patients followed up in the intensive care unit who have been treated according to DKA protocols, clinical and laboratory characteristics, differences between new and old diagnosed patients, and results of treatment were evaluated. Methods: The records of 67 patients hospitalized in the pediatric intensive care unit for the past two years were reviewed retrospectively. Patients were grouped as newly diagnosed and old diagnosed diabetics. Results: The mean age of the patients was 8.66 ± 5.0 years (3 months to 17.9 years) and 39 (58.2%) were male. Forty-five patients (67.1%) presented with mild DKA and 22 (33.9%) with severe DKA. Fourteen (63.6%) of the severe DKA cases were newly diagnosed with T1DM. Six patients had hyponatremia (corrected serum Na level 145 mmol/L). Only one of the hyponatremic patients had severe acidosis, while four of the hypernatremic patients had severe acidosis. At the 14th hour, blood glucose levels were below 200 mg/dl, blood ketones became negative in 5.8 hours, and at 9.1 hours, blood pH and/or HCO3 levels were normalized, recovery criteria were completed, and subcutaneous (SC) insulin injection was started. Of the patients, 38 (56.7) were newly diagnosed with T1DM. The mean age of newly diagnosed T1DM patients was smaller (7.40 ± 4.96) than those with old diagnosis, respiratory rates (RRs) were higher and pCO2 levels were lower on admission. Blood glucose, blood ketone negativity, acidosis, and Glasgow coma score (GCS) scores of the newly diagnosed T1DM patients improved later than the previous diagnoses. Only one patient under two years of age with a pH of 6.89 was given HCO3. None of the patients had symptomatic brain edema and death. Conclusions: As a result, DKA is an acute and serious complication of diabetes, whose results are promising when managed only with minimal individual changes according to guidelines. Bicarbonate administration is not needed except in patients with very severe acidosis. Bedside blood ketone monitoring seems to be important because it allows for early enteral feeding.
- Published
- 2020
16. Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes
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Huseyin Demirbilek, Mehmet Ağın, Birsen Baysal, Edip Unal, Meliha Demiral, Elif Gökçe Devecioğlu, and Mehmet Nuri Ozbek
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,type 1 diabetes ,Endocrinology, Diabetes and Metabolism ,Remission, Spontaneous ,Disease ,Comorbidity ,Gastroenterology ,Asymptomatic ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,Serology ,Young Adult ,Endocrinology ,children ,Internal medicine ,Biopsy ,medicine ,Humans ,Child ,Autoantibodies ,Retrospective Studies ,Type 1 diabetes ,lcsh:RC648-665 ,medicine.diagnostic_test ,business.industry ,spontaneous normalization ,Area under the curve ,lcsh:RJ1-570 ,lcsh:Pediatrics ,medicine.disease ,Confidence interval ,Celiac Disease ,Diabetes Mellitus, Type 1 ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cohort ,Female ,Original Article ,medicine.symptom ,business - Abstract
Objective: The prevalence of celiac disease (CD) varies between 1% and 10% in patients with type 1 diabetes mellitus (T1DM). This study aimed to determine the frequency of spontaneous recovery of celiac serology and the biopsy-proven CD (BPCD) frequency in patients with T1DM. Methods: The data of 668 patients with available celiac serology tests from a total of 779 patients who were followed for the last 10 years with the diagnosis of T1DM were retrospectively evaluated. Results: Positive serology was detected in 103 out of 668 (15.4%) patients. There was spontaneous normalization in 24 (23.3%), fluctuation in 11 (10.7%) and permanently positive serology in 68 (66%). In 46 out of 53 (86.8%) patients with positive serology and biopsy, CD diagnosis was confirmed by biopsy (BPCD). The frequency of BPCD was 6.9%, and the serology in 76.1% was positive at the time of diagnosis of T1DM. The weight, height and body mass index-standard deviation score at diagnosis were lower in patients with BPCD compared to the group without CD. An anti-tissue transglutaminase-IgA (anti-TTG-IgA) level of 11.8 times the upper limit of normal was the most sensitive (93%) and specific (90%) cut-off for BPCD (area under the curve: 0.95; 95% confidence interval: 0.912-1; p
- Published
- 2020
17. The Spectrum From Classic to Non-Classic 11β-Hydroxylase Deficiency
- Author
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Seyit Ahmet Uçaktürk, Serap Turan, Mehmet Nuri Ozbek, Goncagül Haklar, Henrik Falhammar, Tulay Guran, Atilla Cayir, Emregul Isik, Ali Yaman, Melek Yildiz, Gönül Çatlı, Karl-Heinz Storbeck, Tugba Baris, Ahmet Anık, Firdevs Bas, Hasan Önal, Fatma Dursun, Huseyin Demirbilek, Edip Unal, Cengiz Kara, Zehra Yavas Abali, Tugba Cetin, Muammer Buyukinan, Feyza Darendeliler, Abdullah Bereket, and Mehmet Keskin
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Hydroxylase deficiency ,Final height ,Ethics committee ,medicine.disease ,Informed consent ,Cohort ,Adrenal insufficiency ,Medicine ,Congenital adrenal hyperplasia ,Differential diagnosis ,business - Abstract
Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of the data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD).Objective: To characterize a multicenter pediatric cohort with 11βOHD. Method: The clinical and biochemical characteristics were retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Results: 102 patients (C-11βOHD; n=92, NC-11βOHD; n=10) from 76 families (46,XX; n=53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female final height was 152 cm (-1.85SDS) and male 160.4 cm (-2.56SDS). None of the NC-11βOHD girls had ambiguous genitalia (C-11βOHD 100%) and none of the NC-11βOHD patients were hypertensive (C-11βOHD 50%). Compared to NC-11βOHD, C-11βOHD patients were diagnosed earlier (1.33 vs. 6.9 years, p 2.2
- Published
- 2020
18. Familial Glucocorticoid Defificiency in a Newborn Caused by a Mutation in Melanocortin 2 Receptor: Case Report
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Mehmet Nuri Ozbek, Tulay Guran, and Sumru Kavurt
- Subjects
medicine.medical_specialty ,business.industry ,Hypoglycemia ,medicine.disease ,Hyperpigmentation ,Endocrinology ,Internal medicine ,Mutation (genetic algorithm) ,medicine ,Adrenal insufficiency ,Melanocortin ,medicine.symptom ,Receptor ,business ,Glucocorticoid ,medicine.drug - Published
- 2017
19. Early neurological complications in children with classical galactosemia and p.gln188arg mutation
- Author
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Nezir Ozgun, Muhittin Çelik, Ali Bulbul, Banu Anlar, Mehmet Nuri Ozbek, and Osman Akdeniz
- Subjects
Galactosemias ,Male ,Pediatrics ,medicine.medical_specialty ,Developmental Disabilities ,Neurological examination ,Disease ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Seizures ,medicine ,Humans ,Brain magnetic resonance imaging ,030304 developmental biology ,Retrospective Studies ,Neurologic Examination ,0303 health sciences ,Mutation ,medicine.diagnostic_test ,business.industry ,Galactosemia ,Brain ,Infant ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,Language development ,Concomitant ,Child, Preschool ,Female ,business ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Background Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. Methods We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. Results The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ± 28.5 months and 34.4 ± 18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. Conclusions This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.
- Published
- 2019
20. Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism
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Mehmet Nuri Ozbek, Huseyin Demirbilek, Riza Taner Baran, Ahmet Baran, and Çocuk Sağlığı ve Hastalıkları
- Subjects
musculoskeletal diseases ,medicine.medical_specialty ,Adolescent ,Bone density ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,030209 endocrinology & metabolism ,03 medical and health sciences ,Follicle-stimulating hormone ,Absorptiometry, Photon ,0302 clinical medicine ,Endocrinology ,Hypergonadotropic hypogonadism ,Bone Density ,Hypogonadotropic hypogonadism ,030225 pediatrics ,Internal medicine ,medicine ,Humans ,follicle-stimulating hormone ,Bone mineral ,business.industry ,Hypogonadism ,Bone age ,musculoskeletal system ,medicine.disease ,osteoporosis ,Pediatrics, Perinatology and Child Health ,Female ,Original Article ,Follicle Stimulating Hormone ,business ,Luteinizing hormone - Abstract
Objective Deficiency of sex steroids has a negative impact on bone mineral content. In studies conducted on postmenopausal women and animal studies, elevated follicle-stimulating hormone (FSH) levels were found to be correlated with a decrease in bone mineralization and osteoporosis. The aim of the present study was to evaluate bone mineral density (BMD) in adolescent girls with hypogonadotropic and hypergonadotropic hypogonadism and also to investigate the correlation between FSH level and BMD. Methods The study group included 33 adolescent girls with hypogonadism (14 with hypogonadotropic hypogonadism and 19 with hypergonadotropic hypogonadism). FSH, luteinizing hormone, estradiol levels, and BMD (using dual energy x-ray absorptiometry) were measured. Results There were no statistically significant differences between the chronological age and bone age of the two patient groups, namely, with hypogonadotropic and hypergonadotropic hypogonadism. There was also no significant difference between BMD z-score values obtained from measurements from the spine and the femur neck of patients in the two groups (p-values were 0.841 and 0.281, respectively). In the hypergonadotropic group, a moderately negative correlation was detected between FSH level and BMD z-score measured from the femur neck (ρ=-0.69, p=0.001), whilst no correlation was observed between FSH levels and height adjusted BMD-z scores measured from the spine (ρ=0.17, p=0.493). FSH level was not found to be an independent variable affecting BMD z-score. Conclusion BMD z-scores were detected to be similar in adolescent girls with hypogonadotropic and hypergonadotropic hypogonadism, and FSH levels were not found to have a clinically relevant impact on BMD.
- Published
- 2016
21. Evaluation of Echocardiography and Holter Electrocardiography Findings in Patients with Mucopolysaccharidosis
- Author
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Murat Kangin, Semra Saygı, Huseyin Demirbilek, Muhittin Çelik, Mehmet Nuri Ozbek, and Bedri Aldudak
- Subjects
medicine.medical_specialty ,business.industry ,Holter Electrocardiography ,Internal medicine ,Mucopolysaccharidosis ,Pediatrics, Perinatology and Child Health ,medicine ,Cardiology ,In patient ,Radiology ,medicine.disease ,business - Published
- 2015
22. A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy
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Nilufer, Ozdemir Kutbay, Mehmet Nuri, Ozbek, Banu, Sarer Yurekli, and Huseyin, Demirbilek
- Subjects
Male ,Young Adult ,Fatal Outcome ,Phenotype ,Siblings ,Mutation, Missense ,Brain ,Humans ,Adrenoleukodystrophy ,Child ,ATP Binding Cassette Transporter, Subfamily D, Member 1 ,Magnetic Resonance Imaging - Abstract
X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably identical, ABCD1 mutation, who had extremely distinct clinical phenotypes.Patient 1 (6y/o) was admitted with primary adrenal insufficiency (PAI). His VLCFA analysis and cranial MRI suggested the diagnosis of X-ALD with no cranial involvement. Although the PAI was successfully managed using hydrocortisone replacement therapy, during follow-up he was admitted with the complaints of perception impairment, seizures, loss of vision and deafness suggesting cranial involvement which was not able to be recovered despite intensive supportive therapies; in the end patient died. Patient 2 (21y/o) had mild symptoms of PAI with no organ manifestation. He was undertaken to a molecular genetics analysis for ABCD1 gene due to history of his brother. His VLCFA analysis revealed mildly elevated C26, C22 and C26/C22 ratio suggesting ALD diagnosis. However, his cranial imaging and other results were within normal limits.Two siblings with X-ALD due to presumably an identical, missense ABCD1 mutation and distinct clinical phenotype have confirmed the lack of phenotype-genotype correlation and proved the essential role of molecular genetics analysis in the early diagnosis. It is crucial to follow up for the development of cranial involvement and decide a bone marrow transplantation which is the only option that can prevent the progression of the disease, thus extend the lifespan.
- Published
- 2018
23. Capillary Bedside Blood Glucose Measurement in Neonates: Missing a Diagnosis of Galactosemia
- Author
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Murat Ocal, Birsen Baysal, Mehmet Nuri Ozbek, Huseyin Demirbilek, Sibel Tanriverdi, Kahraman Öncel, and Ahmet Deniz
- Subjects
Blood Glucose ,Galactosemias ,Male ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Case Report ,Normal values ,Diagnosis, Differential ,chemistry.chemical_compound ,Endocrinology ,Pseudohyperglycemia ,Internal medicine ,Blood Glucose Self-Monitoring ,medicine ,Humans ,Diagnostic Errors ,Blood Glucose Measurement ,Hyperbilirubinemia ,Diagnostic Tests, Routine ,business.industry ,Galactosemia ,Infant, Newborn ,Fructose ,Carbohydrate ,medicine.disease ,conjugated bilirubinemia ,capillary blood glucose ,chemistry ,Galactose ,Pediatrics, Perinatology and Child Health ,business ,Hepatomegaly ,Capillary blood glucose level - Abstract
A number of factors may lead to inaccuracy in measurement of capillary blood glucose with a glucometer. Measurement of other carbohydrate molecules such as galactose and fructose along with glucose can potentially be a cause of error. We report a newborn patient who was referred to our hospital with conjugated bilirubinemia, hepatomegaly and high capillary blood glucose levels measured with a glucometer. Simultaneous biochemical measurements revealed normal blood glucose levels. Further investigation led to a diagnosis of classical galactosemia. Capillary blood glucose level measured with glucometer also dropped to normal values following cessation of breastfeeding and initiation of feeding with a lactose-free formula.
- Published
- 2015
24. InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism
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Seref Erdogan, M. Bertan Yılmaz, Robert P. Millar, Fatih Gurbuz, Fatih Temiz, Javier Tello, Mehmet Nuri Ozbek, L. Damla Kotan, Bilgin Yüksel, A. Kemal Topaloglu, and Çukurova Üniversitesi
- Subjects
Adult ,Male ,endocrine system ,medicine.medical_specialty ,Adolescent ,Genotyping Techniques ,Genes, Recessive ,Gonadotropin-releasing hormone ,medicine.disease_cause ,Gonadotropin-Releasing Hormone ,Consanguinity ,chemistry.chemical_compound ,Kisspeptin ,Hypogonadotropic hypogonadism ,Internal medicine ,Humans ,Medicine ,Child ,Receptor ,Kisspeptins ,Mutation ,business.industry ,Hypogonadism ,Puberty ,Sequence Analysis, DNA ,General Medicine ,medicine.disease ,Pedigree ,Endocrinology ,chemistry ,Female ,Congenital Hypogonadotropic Hypogonadism ,Neurokinin B ,business ,hormones, hormone substitutes, and hormone antagonists ,Hormone - Abstract
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.). Copyright © 2012 Massachusetts Medical Society.
- Published
- 2012
25. Low Serum Adiponectin Levels in Children and Adolescents with Diabetic Retinopathy
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Eser Tasci, Fatih Temiz, Neslihan Önenli-Mungan, Ali Kemal Topaloglu, Mehmet Nuri Ozbek, and Bilgin Yüksel
- Subjects
Leptin ,medicine.medical_specialty ,Bioinformatics ,Adinopectin ,Internal medicine ,medicine ,Type I Diabetes Mellitus ,Retinopathy ,Serum adiponectin ,lcsh:R5-920 ,Adiponectin ,business.industry ,General Medicine ,Diabetic retinopathy ,medicine.disease ,Endocrinology ,Metabolic control analysis ,Original Article ,Microalbuminuria ,Children and Adolescents ,lcsh:Medicine (General) ,Complication ,business ,hormones, hormone substitutes, and hormone antagonists - Abstract
The aim of this study was to elucidate the role of adiponectin, leptin, TNF-α and IL-6 on the early detection of the microvascular complications of type I diabetes.A total of 88 children were included in the study. There were 60 type I diabetic patients and 28 healthy control children.The gender, age, weight, height, BMI and puberty status characteristics were similar in the patient and control groups (p0.05). The serum leptin, TNF-α and IL-6 levels were similar between the patient and control groups (p0.05) and the only difference was in the serum adiponectin level which was higher in the patient group (p:0.042). We also found no association between the adiponectin, leptin, TNF-α and IL-6 levels and diabetes duration (p0.05). Leptin was high in the pubertal period (p:0.016), while adiponectin TNF-α and IL-6 levels were similar in the prepubertal and pubertal periods (p0.05). The serum leptin level was high in microalbuminuria patients (p0.041). The serum adiponectin, TNF-α, and IL-6 levels were not different in patients with and without microalbuminuria (p0.05). The serum adiponectin level was lower in diabetic retinopathy patients (p:0.003), while the serum leptin level was higher (p:0.003). The TNF-α and IL-6 levels were similar in patients with and without retinopathy (p0.05).We found increased serum adinopectin levels in children and adolescents with type I diabetes mellitus and low levels in diabetic retinopathy patients. Patients with low serum adiponectin levels and high leptin levels should be more closely monitored for chronic complication development and better metabolic control should be aimed for.Bu çalışmada tip I diyabetin mikrovasküler komplikasyonlarının erken saptanması ve bu komplikasyonların erken tanınmasında adiponektin, leptin, TNF-α ve IL-6’nın rolünün ortaya çıkarılması amaçlanmıştır.Çalışmaya toplam 88 çocuk alınmıştır. Bunların 60’ı tip I diyabet’li hasta, 28’i sağlıklı kontrol çocuktan oluşmaktaydı.Hasta ile kontrol grubu arasında cinsiyet, yaş, ağırlık, boy, VKİ, puberte durumları benzerdi (p0.05). Hasta ile kontrol grubu arasında sadece serum adiponektin düzeyinin hasta grubunda daha yüksek olduğu saptanırken (p:0.042), hasta ile kontrol grubu arasında serum leptin, TNF-α ve IL-6 düzeyleri benzerdi (p0.05). Diyabet süreleri ile adiponektin, leptin, TNF-α ve IL-6 düzeyleri arasında da bir ilişki saptanmadı (P0.05). Puberte döneminde leptin yüksekliği saptanırken (p:0.016), adiponektin, TNF-α ve IL-6 düzeyleri prepubertal ve pubertal dönemde benzerdi (p0.05). Mikroalbuminürili hastalarda serum leptin yüksekliği saptanırken (p0.041), serum adiponektin, TNF-α ve IL-6 düzeyleri mikroalbuminüri olan ve olmayan hastalarda benzerdi (p0.05). Diyabetik retinopatili hastalarda serum adiponektin düzeyi daha düşük (P:0.003), serum leptin düzeyi daha yüksek saptandı (p:0.003). TNF-α ve IL-6 düzeyleri retinopati olan ve olmayan hastalarda benzerdi (p0.05).Tip 1 diyabetli çocuk ve adolesanlarda serum adinopektin düzeyini artmış olarak bulurken diyabetik retinopatili hastalarda ise bu düzeyi düşük bulduk. Serum adiponektin düşüklüğü ve leptin yüksekliği olan hastalar kronik komplikasyonların gelişimi açısından daha yakın takip edilmeli ve daha iyi bir metabolik kontrol sağlanmaya çalışılmalıdır.
- Published
- 2011
26. An important problem in neonatal period: Hypernatremic dehydration
- Author
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Mehmet Nuri Ozbek, Mustafa Taşkesen, Abdurrahman Akgun, and Selahattin Katar
- Subjects
Pediatrics ,medicine.medical_specialty ,Hypernatremic Dehydration ,business.industry ,Period (gene) ,Medicine ,General Medicine ,business - Published
- 2010
27. The efficiency of pamidronate treatment on children with osteogenesis imperfecta
- Author
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Mehmet Nuri Ozbek, Bilgin Yüksel, Derya Citirik, Neslihan Önenli Mungan, and Ali Kemal Topaloglu
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Osteogenesis imperfecta ,Medicine ,General Medicine ,business ,medicine.disease - Published
- 2010
28. Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene
- Author
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Mehmet Nuri Ozbek, Paul-Martin Holterhus, Susanne Bens, Ivo Leuschner, Alexandra Kulle, Angelika Mohn, Felix G. Riepe, Bilgin Yüksel, Franco Chiarelli, Matthias Michalek, Joachim Grötzinger, and Çukurova Üniversitesi
- Subjects
Male ,medicine.medical_specialty ,Genotype ,Protein Conformation ,Endocrinology, Diabetes and Metabolism ,Blotting, Western ,Clinical Biochemistry ,Mutant ,Disorders of Sex Development ,Fluorescent Antibody Technique ,030209 endocrinology & metabolism ,Mitochondrion ,Polymorphism, Single Nucleotide ,Biochemistry ,Adrenodoxin reductase ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Adrenodoxin ,Internal medicine ,Chlorocebus aethiops ,medicine ,Animals ,Humans ,Gene ,030304 developmental biology ,0303 health sciences ,Adrenal Hyperplasia, Congenital ,biology ,Steroidogenic acute regulatory protein ,Cholesterol side-chain cleavage enzyme ,Biochemistry (medical) ,Infant ,Cytochrome P450 ,Phosphoproteins ,Mitochondria ,Pedigree ,Cholesterol ,Phenotype ,COS Cells ,Mutation ,biology.protein ,Female ,Adrenal Insufficiency - Abstract
Context: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an Italian patient; p.P129fs and p.Q128R in a Turkish patient).Methods and Results: Transient in vitro expression of the mutant proteins together with P450 side-chain cleavage enzyme, adrenodoxin, and adrenodoxin reductase yielded severely diminished cholesterol conversion of the p.N148K mutant, the combined p.P129fs and p.Q128R mutant, and the p.P129fs mutant by itself. The p.Q128R mutant led to a higher cholesterol conversion than the wild-type StAR protein. As derived from three-dimensional protein modeling, the residue N148 is lining the ligand cavity of StAR. A positively charged lysine residue at position 148 disturbs the hydrophobic cluster formed by the α4-helix and the sterol binding pocket. The frame shift mutation p.P129fs truncates the StAR protein. Residue p.Q128 is situated at the surface of the molecule and is not part of any functionally characterized region of the protein.Conclusion: The mutations p.N148K and p.P129fs cause adrenal insufficiency in both cases and lead to a disorder of sex development with complete sex reversal in the 46, XY case. The mutation p.Q128R, which is not relevant for the patient’s phenotype, is the first reported variant showing a gain of function. We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer.
- Published
- 2010
29. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
- Author
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Durmuş Doğan, Sultan Kaba, Bayram Özhan, Huseyin Demirbilek, Cigdem Binay, Ayşehan Akıncı, Davut Gül, Halil Saglam, Bumin Dündar, Oya Ercan, Fatih Gurbuz, Gülay Karagüzel, Esra Deniz Çakır, Erdal Eren, Olcay Evliyaoğlu, Serpil Bas, Firdevs Bas, Tolga Ünüvar, Nesibe Andiran, Mehmet Nuri Ozbek, Muammer Buyukinan, Beray Selver Eklioğlu, Fatma Demirel, Cengiz Kara, Feyza Darendeliler, Ayhan Abaci, Kezban Bulan, Cengizhan Açıkel, Şükrü Hatun, Erdal Adal, Ömer Tarım, Bilgin Yüksel, Peyami Cinaz, Nurullah Çelik, Nesibe Akyürek, Mehmet Keskin, Saygin Abali, Korcan Demir, Damla Gökşen, Deniz Özalp Kızılay, Ahmet Anık, Ayşenur Ökten, Ozgur Pirgon, Şükran Darcan, Betül Ersoy, Celal Sağlam, M. Mümtaz Mazıcıoğlu, Filiz Mine Çizmecioğlu, Abdullah Bereket, Yaşar Şen, Hakan Doneray, Semih Bolu, Murat Doğan, Gönül Çatlı, Veysel Nijat Baş, Erkan Sari, Behzat Özkan, Rüveyde Bundak, Hatice Dilek Can, Hasan Önal, Ali Ataş, Adem Polat, Derya Tepe, Enver Simsek, Tolga Özgen, Ali Kemal Topaloglu, Serap Turan, Banu Kucukemre Aydin, Ediz Yeşilkaya, Leyla Akin, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Çukurova Üniversitesi, OMÜ, Darendeliler, Feyza, Yesilkaya, Ediz, Bereket, Abdullah, Bas, Firdevs, Bundak, Ruveyde, Sari, Erkan, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Mazicioglu, Mumtaz M., Adal, Erdal, Akinci, Aysehan, Atabek, Mehmet Emre, Demirel, Fatma, Celik, Nurullah, Ozkan, Behzat, Ozhan, Bayram, Orbak, Zerrin, Ersoy, Betul, Dogan, Murat, Atas, Ali, Turan, Serap, Goksen, Damla, Tarim, Omer, Yuksel, Bilgin, Ercan, Oya, Hatun, Sukru, Simsek, Enver, Okten, Aysenur, Abaci, Ayhan, Doneray, Hakan, Ozbek, Mehmet Nuri, Keskin, Mehmet, Onal, Hasan, Akyurek, Nesibe, Bulan, Kezban, Tepe, Derya, Emeksiz, Hamdi Cihan, Demir, Korcan, Kizilay, Deniz, Topaloglu, Ali Kemal, Eren, Erdal, Ozen, Samim, Demirbilek, Huseyin, Abali, Saygin, Akin, Leyla, Eklioglu, Beray Selver, Kaba, Sultan, Anik, Ahmet, Bas, Serpil, Unuvar, Tolga, Saglam, Halil, Bolu, Semih, Ozgen, Tolga, Dogan, Durmus, Cakir, Esra Deniz, Sen, Yasar, Andiran, Nesibe, Cizmecioglu, Filiz, Evliyaoglu, Olcay, Karaguzel, Gulay, Pirgon, Ozgur, Catli, Gonul, Can, Hatice Dilek, Gurbuz, Fatih, Binay, Cigdem, Bas, Veysel Nijat, Saglam, Celal, Gul, Davut, Polat, Adem, Acikel, Cengizhan, and Cinaz, Peyami
- Subjects
Pediatrics ,Percentile ,abnormal body build ,Turkey ,Cross-sectional study ,Turkish ,Endocrinology, Diabetes and Metabolism ,Ethnic group ,CHILDREN ,preschool child ,Body Mass Index ,Endocrinology ,Turner syndrome ,Medicine ,genetics ,Young adult ,Child ,growth charts ,pathophysiology ,CELIAC-DISEASE ,clinical trial ,Turkish children ,ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,female ,Child, Preschool ,language ,Original Article ,InformationSystems_MISCELLANEOUS ,STANDARDS ,Adult ,medicine.medical_specialty ,Adolescent ,Karyotype ,Article ,body weight ,Young Adult ,cross-sectional study ,Humans ,aneuploidy ,human ,Growth charts ,body mass index charts ,business.industry ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,school child ,medicine.disease ,major clinical study ,body mass ,Body Height ,language.human_language ,multicenter study ,Cross-Sectional Studies ,ComputingMethodologies_PATTERNRECOGNITION ,FINAL HEIGHT ,Reference values ,physiology ,Pediatrics, Perinatology and Child Health ,HORMONE TREATMENT ,WEIGHT ,business ,Body mass index ,Body mass index charts ,growth curve - Abstract
WOS: 000360842500004, PubMed: 26831551, 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., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).
- Published
- 2015
30. Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I
- Author
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Huseyin Demirbilek, Sibel Tanriverdi, Mehmet Nuri Ozbek, Riza Taner Baran, Khalid Hussain, and Sophia Tahir
- Subjects
0301 basic medicine ,Vitamin ,Male ,medicine.medical_specialty ,Heterozygote ,Genotype ,Turkey ,Endocrinology, Diabetes and Metabolism ,Rickets ,03 medical and health sciences ,chemistry.chemical_compound ,Endocrinology ,Genotype-phenotype distinction ,Internal medicine ,medicine ,Vitamin D and neurology ,Humans ,Hypocalcaemia ,25-Hydroxyvitamin D3 1-alpha-Hydroxylase ,business.industry ,Infant ,Heterozygote advantage ,medicine.disease ,Familial Hypophosphatemic Rickets ,030104 developmental biology ,chemistry ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Mutation ,Female ,RNA Splice Sites ,business - Abstract
Background and Aims: Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1). Mutations in CYP27B1 disrupt or lead to a total loss of the 1-α-hydroxylase activity and require treatment with physiological doses of calcitriol. Patients and Methods: A genetic analysis of the CYP27B1 gene was conducted in 22 Turkish patients with VDDR1 from 13 families. Presenting characteristics, biochemical features, treatment, and results from the genetic analysis are described. Results: A splice donor site mutation c.195 + 2T>G was found in 10 patients. The novel missense p.192K>E (c.574A>G) mutation was detected in 5 patients, and a novel missense p.197G>D (c.590G>A) mutation was found in 4 patients. A previously reported 7-bp duplication 1319-1325dupCCCACCC (Phe443Profs*24) in exon 8 was detected in 1 patient, and 1 patient was a compound heterozygote for the novel p.192K>E and the previously described 1319-1325dupCCCACCC mutations. A novel single base pair deletion, c.171_171delG, leading to a frameshift, was found in 1 patient. Conclusions: We identified 3 novel and 2 previously described mutations in the CYP27B1 gene. A marked phenotypical diversity was observed between families that carried identical mutations, suggesting phenotypical heterogeneity.
- Published
- 2015
31. Mutations in BTD gene causing biotinidase deficiency: a regional report
- Author
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Riza Taner Baran, Melek Akar, Tijen Tanyalçın, Mehmet Nuri Ozbek, Heybet Tüzün, Bedri Aldudak, and Çiğdem Seher Kasapkara
- Subjects
Male ,Turkey ,Endocrinology, Diabetes and Metabolism ,DNA Mutational Analysis ,Mutation, Missense ,Compound heterozygosity ,Polymorphism, Single Nucleotide ,chemistry.chemical_compound ,Exon ,Endocrinology ,Biotin ,Biocytin ,Humans ,Medicine ,Missense mutation ,Genetics ,Biotinidase Deficiency ,Newborn screening ,Biotinidase ,business.industry ,Biotinidase deficiency ,Infant, Newborn ,Infant ,medicine.disease ,chemistry ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. Children with biotinidase deficiency cannot cleave biocytin and, therefore, cannot recycle biotin. Untreated individuals become secondarily biotin deficient, which in turn results in decreased activities of the biotin-dependent carboxylases and the subsequent accumulation of toxic metabolites causing clinical symptoms. Biotinidase deficiency is characterized by neurological, cutaneous manifestations and metabolic abnormalities. The worldwide incidence of profound biotinidase deficiency has been estimated at 1:112,271. The human biotinidase gene is located on chromosome 3p25 and consists of four exons with a total length of 1629 base pairs. To date, more than 100 mutations in the biotinidase gene known to cause biotinidase deficiency have been reported. The vast majority of mutations are homozygous or compound heterozygous. Finding known mutations can be correlated with the biochemical enzymatic results. This report summarizes the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey.
- Published
- 2015
32. Nutritional Megaloblastic Anemia in Young Turkish Children is Associated With Vitamin B-12 Deficiency and Psychomotor Retardation
- Author
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Mehmet Nuri Ozbek, Selahattin Katar, Sultan Ecer, and Ahmet Yaramis
- Subjects
Male ,Hypersegmented neutrophil ,Pediatrics ,medicine.medical_specialty ,Anemia, Megaloblastic ,Turkey ,Neutrophils ,Anemia ,Folic Acid Deficiency ,Pallor ,Folic Acid ,Intellectual Disability ,medicine ,Humans ,Outpatient clinic ,Vitamin B12 ,Megaloblastic anemia ,Mean corpuscular volume ,medicine.diagnostic_test ,Psychomotor retardation ,business.industry ,Infant ,Vitamin B 12 Deficiency ,Hematology ,medicine.disease ,Motor Skills Disorders ,Vitamin B 12 ,Oncology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,medicine.symptom ,business - Abstract
We aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria for the study were; age 9 to 36 months, refusal of food except for breast and cow milk, loss of appetite, developmental delay, significant pallor, and hypersegmentation neutrophils in the peripheral blood smear. A total of 33 children fulfilling the inclusion criteria were enrolled among 3368 patients attending Pediatric Outpatient Clinics of şirnak-Cizre State Hospital between January 25, 2004 and May 5, 2004. Mean age was 16.4 months. Thirty-two patients had Vitamin B12 deficiency, 1 patient had folate deficiency, and 10 patients had combined vitamin B12 and folate deficiency. Statistically, a positive significant relationship was detected between serum vitamin B12 levels and mean corpuscular volume (P = 0.001, r = 0.56), and between vitamin B12 levels and hemoglobin (P = 0.004, r = 0.49). We believe that preventative measures such as fortification of flour with vitamin B12, nutritional support with vitamin B12 for the mother during pregnancy and nursing, provision of adequate primary preventive health services, and starting complementary food after 6 months of age are important determinants for preventing megaloblastic anemia.
- Published
- 2006
33. Multiple Pituitary Hormone Deficiency Due to Gunshot Injury in a 6-Year-Old Girl
- Author
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Ahmet Baran, Mehmet Nuri Ozbek, Huseyin Demirbilek, and Riza Taner Baran
- Subjects
medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,media_common.quotation_subject ,Poison control ,Case Report ,Hypopituitarism ,Growth hormone deficiency ,Endocrinology ,Hypothyroidism ,Polyuria ,Central hypothyroidism ,medicine ,Humans ,Deamino Arginine Vasopressin ,Girl ,media_common ,Human Growth Hormone ,business.industry ,Mortality rate ,medicine.disease ,Surgery ,Diabetes Insipidus, Neurogenic ,Pituitary Hormones ,Thyroxine ,Pediatrics, Perinatology and Child Health ,Diabetes insipidus ,Female ,Wounds, Gunshot ,medicine.symptom ,business - Abstract
Gunshot injuries (GSI) of the cranial area have an extremely high mortality rate. Herein, we present a girl who has been living with a bullet in the posterior sellar region. A 6-year-old girl was admitted with complaints of headache, polyuria and polydypsia, which started after a GSI. At the time of admission the patient’s anthropometric, physical and neurological examinations were normal. Urine output was 5.5 L/m2/24h. A water deprivation test suggested central diabetes insipidus, which responded to treatment. Evaluation of other pituitary hormones revealed central hypothyroidism and growth hormone deficiency. Pituitary hormone deficiency must be kept in mind in patients injured by a gunshot to the sellar/parasellar region. Conflict of interest:None declared.
- Published
- 2013
34. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations
- Author
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Huseyin, Demirbilek, Ved Bhushan, Arya, Mehmet Nuri, Ozbek, Jayne A L, Houghton, Riza Taner, Baran, Melek, Akar, Selahattin, Tekes, Heybet, Tuzun, Deborah J, Mackay, Sarah E, Flanagan, Andrew T, Hattersley, Sian, Ellard, and Khalid, Hussain
- Subjects
Male ,Turkey ,Incidence ,Infant, Newborn ,Infant ,Protein Serine-Threonine Kinases ,Osteochondrodysplasias ,Infant, Newborn, Diseases ,Germinal Center Kinases ,Consanguinity ,eIF-2 Kinase ,Diabetes Mellitus, Type 1 ,Child, Preschool ,Mutation ,Diabetes Mellitus ,Clinical Study ,Humans ,Female ,Epiphyses ,Transcription Factors - Abstract
Background Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey. Design and methods NDM patients presenting to Diyarbakir Children State Hospital between 2010 and 2013, and patients under follow-up with presumed type 1 diabetes mellitus, with onset before 6 months of age were recruited. Molecular genetic analysis was performed. Results Twenty-two patients (59% males) were diagnosed with NDM (TNDM-5; PNDM-17). Molecular genetic analysis identified a mutation in 20 (95%) patients who had undergone a mutation analysis. In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified. Pancreatic exocrine dysfunction was observed in patients with mutations in the distal PTF1A enhancer. Both patients with a KCNJ11 mutation responded to oral sulphonylurea. A variable phenotype was associated with the homozygous c.-331C>A INS mutation, which was identified in both a PNDM and TNDM patient. The annual incidence of PNDM in South-East Anatolian region of Turkey was one in 48 000 live births. Conclusions Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A were the commonest causes of NDM in our cohort. The high rate of detection of a mutation likely reflects the contribution of new genetic techniques (targeted next-generation sequencing) and increased consanguinity within our cohort.
- Published
- 2014
35. Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia
- Author
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Khalid Hussain, Riza Taner Baran, Pratik Shah, Maha Sherif, Mehmet Nuri Ozbek, Sophia Tahir, Ved Bhushan Arya, Ahmet Baran, Huseyin Demirbilek, and Nebahat Hatipoglu
- Subjects
Male ,Receptors, Neuropeptide ,medicine.medical_specialty ,Pituitary gland ,Growth-hormone-releasing hormone receptor ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Mutation, Missense ,Context (language use) ,Biology ,Biochemistry ,Short stature ,symbols.namesake ,Endocrinology ,Receptors, Pituitary Hormone-Regulating Hormone ,Pituitary Gland, Anterior ,Pregnancy ,Internal medicine ,medicine ,Missense mutation ,Humans ,Family ,Sanger sequencing ,Human Growth Hormone ,Biochemistry (medical) ,Brain ,Chromosome Mapping ,Infant ,Disease gene identification ,Body Height ,Hypoglycemia ,Pedigree ,medicine.anatomical_structure ,symbols ,IGHD ,Female ,medicine.symptom - Abstract
Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD).This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of severe short stature in a large consanguineous family with IGHD.The index case presented with a hypoglycemic convulsion, following which eight members in two related consanguineous Turkish families were identified with IGHD. Homozygosity mapping identified the homozygous regions shared only among the affected individuals. Sanger sequencing of GHRHR, which resided in the shared homozygous region, was performed. In silico analysis of the pathogenic GHRHR variant was performed.The clinical presentation and hormonal analysis confirmed GH deficiency in all affected individuals. Magnetic resonance imaging scan of the pituitary gland showed anterior pituitary hypoplasia in five affected individuals in which the youngest was only 0.4 years old, but with normal pituitary size in three affected individuals. Homozygosity mapping showed two large homozygous regions on chromosome 7 shared only among affected individuals. Sanger sequencing of GHRHR gene present in one of these shared regions identified a novel homozygous missense mutation (p.C64G) segregating with the disease phenotype. In silico analysis predicted the mutation to be deleterious and disease causing.We describe a large consanguineous Turkish kindred with IGHD due to a novel homozygous missense GHRHR mutation. This is the first description of presentation with hypoglycemia and the earliest reported occurrence of anterior pituitary hypoplasia in patients with GHRHR mutation.
- Published
- 2014
36. Secondary Hemophagocytosis in Propionic Acidemia
- Author
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Mehmet Nuri Ozbek, Murat Kangin, Fatih Suhey Ezgu, Çiğdem Seher Kasapkara, Alev Hasanoglu, Leyla Tümer, Remezan Demir, Banu Oflaz Ozmen, and Mustafa Karatas
- Subjects
medicine.medical_specialty ,Hemophagocytic lymphohistiocytosis ,Letter ,Propionic Acidemia ,medicine.diagnostic_test ,business.industry ,Secondary Hemophagocytosis ,Complete blood count ,medicine.disease ,Pancytopenia ,Gastroenterology ,Lethargy ,Internal medicine ,Cyclosporin a ,Pediatrics, Perinatology and Child Health ,Immunology ,medicine ,Outpatient clinic ,Hemophagocytosis ,Propionic acidemia ,business - Abstract
Dear Editor, Propionic acidemia is one of the intoxication type organic acidemias, which often present in the neonatal period with lethargy, feeding difficulties, hypotonia, vomiting and coma if not identified and treated appropriately. Patients with propionic acidemia can decompensate during periods of increased metabolic demand (1, 2). Hemophagocytic lymphohistiocytosis (HLH) is a life threatening disorder that can rapidly deteriorate and lead to multiple organ failure and death. It can be classified as primary (familial) or secondary (acquired) (3, 4). Secondary HLH is associated with infections especially viral, malignant disorders, inborn errors of metabolism such as multiple sulphatase deficiency, lysinuric protein intolerance, biotinidase deficiency, Gaucher disease and galactosialidosis (5-8) In this report, we present a case of a 3 year old boy with propionic acidemia who experienced secondary HLH during his metabolic attack and was successfully treated with intravenous gammaglobulin, broad spectrum antibiotics and dexamethasone therapy. A 3-year-old boy who had been followed up with the diagnosis of propionic acidemia from the neonatal period presented with respiratory distress, somnolance, fever and diarrhea to pediatric metabolic unit. His parents were first degree cousins. Carboxylase activities in cultured fibroblasts confirmed the diagnosis of isolated propionyl COA carboxylase deficiency. He had been admitted to hospital several times due to metabolic attacks. On his last admission, body temprature was 39°C. He was tachypneic and tachycardic and capillary refilling time was longer than normal. Skin turgor and tonus were decreased. He was dehydrated. He was not oriented and did not cooperate but was able to localize the painful stimuli. During the follow up in intensive care unit, his consciousness deteriorated progressively, and he was intubated. Serum ammonia level was elevated (280, normal range 31 - 123 µg/dL) and hyper-ammonemia responded dramatically to a single dose of oral carglumic acid. Over the following 6 hours, the plasma ammonia level dropped to 81 µg/dl and remained normal thereafter. Serum uric acid level was 9.4 mg/dL. Complete blood count revealed hemoglobin 12.7 g/dL, leucocyte count 3.1 × 109/L and platelets 96 × 109/L. Blood gas analysis showed pH: 7.52, pCO2 10.8 and HCO3 8.7 mmol/L. Plasma lactate was 6,77 mmol/L. Urine was positive for ketones. He was put on broad spectrum antibiotic treatment after several sets of cultures were taken. On the third day of admission, pancytopenia was prominent with hemoglobin 8.2 g/dL, leucocyte 2.1 × 109/L, and platelet count 4 × 109/L. The peripheral smear showed leukopenia, normocytic normochromic anemia, and thrombocytopenia. Serum ferritin level was 1753 ng/mL. Although he was not on parenteral nutrition, serum triglyceride level was > 1420 mg/dL. Plasma fibrinogen level was 87 mg/dL (normal range 160 - 400 mg/dL). Lactate dehydrogenase level was 1376 IU/L. With the diagnosis of secondary HLH, bone marrow aspiration was performed. On light microscopic examination of bone marrow aspirate, increased histiocytes, lipid laden macrophages, and prominent hemophagocytosis were observed. Viral testing was negative. Based on diagnostic criteria, our patient fulfilled 5 of the 8 criteria and was diagnosed as HLH. Intravenous gamma globulin was given immediately and dexamethasone added to treatment as ordered in the treatment protocol for Hemophagocytic Lymphohistiocytosis (HLH-2004) (Figures 1 - -33). Figure 1. Shows the White Blood Cell Count Levels Variation With the Treatment Protocol Figure 3. Shows the Hemoglobin Levels Variation With the Treatment Protocol He became better in terms of clinical picture and laboratory findings. Fever decreased strikingly. The blood count normalized day by day. We tapered the steroid dose according to HLH 2004 protocol. Two months after the beginning of HLH 2004 protocol, dexamethasone dosage was decreased. Now he is on regular outpatient clinic visits for propionic acidemia and had no relapse during follow up. Hemophagocytic lymphohistiocytosis is a potentially fatal hyperinflammatory condition caused by a highly stimulated but ineffective immune response. HLH can be classified according to the underlying etiology into either primary or secondary. HLH may also occur as a secondary disorder in association with severe infections, malignancies, rheumatologic disorders and some metabolic diseases (1). The mechanism is not clear how the metabolites trigger HLH in inborn errors of metabolism. The HLH-2004 diagnostic criteria suggests that to make a diagnosis of HLH, five of the following criteria are required: 1) fever for 7 days, 2) Splenomegaly, 3) unexplained progressive cytopenia of two or more of three lineages: ANC 265 mg/dL or hypofibrinogen-emia, 5) hyperferritinemia > 500 µg/L, 6) increased soluble CD25 > 2400 U/mL, 7) reduction of natural killer cell activity and 8) pathology showing hemophagocytosis (2). Our patient met five of the eight criteria: fever, cytopenia, hypertriglyceridemia, hypofibrinogenemia, elevated ferritin, and pathology showing hemphagocytosis. No infectious agent was demonstrated from multiple cultures and by serological evaluations. Our patient did respond to dexamathasone and intravenous gammaglobulin therapy. Removal of cytokines with plasma exchange can help to maintain patients until other therapies have a chance to work. Plasma exchange could not be done effectively in our center. However we recommend initiation of the treatment with steroid and immune globulin and if the HLH cannot be taken under control, other drugs such as etoposide and cyclosporin A should be added to the therapeutic regimen. Also in resistant secondary HLH cases, plasma exchange may be considered in terms of removing cytokines and toxins from circulation if available (3, 4). In conclusion this experience suggests that steroid and immune globulin could be considered as a first line therapy in patients with secondary HLH associated by metabolic diseases. Of course, awareness of the clinical symptoms and diagnostic criteria for hemophagocytic syndrome is crucial to start timely lifesaving therapy. The efficacy of therapeutic measures and prognosis depends on degree of hypercytokinemia-associated organ failure at disease onset and underlying disorders. Figure 2. Shows the Platelet Levels Variation With the Treatment Protocol
- Published
- 2014
37. Clinical Characteristics And Phenotype-Genotype Analysis In Turkish Patients With Congenital Hyperinsulinism; Predominance Of Recessive K-Atp Channel Mutations
- Author
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Murat Doğan, Fatma Guzel, Ved Bhushan Arya, Sultan Kaba, Sevim Ünal, Fatma Demirel, Aysehan Akinci, Sarah E. Flanagan, Sian Ellard, Riza Taner Baran, Khalid Hussain, Selahattin Tekkes, Mehmet Nuri Ozbek, Huseyin Demirbilek, and Jayne A L Houghton
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Turkey ,Endocrinology, Diabetes and Metabolism ,Birth weight ,Genes, Recessive ,Gene mutation ,Hypoglycemia ,Sulfonylurea Receptors ,Polymorphism, Single Nucleotide ,ABCC8 ,Cerebral palsy ,Endocrinology ,Gene Frequency ,KATP Channels ,Internal medicine ,Genotype ,medicine ,Humans ,Potassium Channels, Inwardly Rectifying ,Genetic Association Studies ,Retrospective Studies ,biology ,business.industry ,Incidence (epidemiology) ,Infant, Newborn ,Infant ,General Medicine ,medicine.disease ,Mutation ,biology.protein ,Congenital hyperinsulinism ,Congenital Hyperinsulinism ,Female ,business - Abstract
ObjectiveCongenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Design and methodsA total of 35 patients with CHI were retrospectively recruited from four large paediatric endocrine centres in Turkey. Detailed clinical, biochemical and genotype information was collected.ResultsDiazoxide unresponsiveness was observed in nearly half of the patients (n=17; 48.5%). Among diazoxide-unresponsive patients, mutations in ABCC8/KCNJ11 were identified in 16 (94%) patients. Among diazoxide-responsive patients (n=18), mutations were identified in two patients (11%). Genotype–phenotype correlation revealed that mutations in ABCC8/KCNJ11 were associated with an increased birth weight and early age of presentation. Five patients had p.L1171fs (c.3512del) ABCC8 mutations, suggestive of a founder effect. The rate of detection of a pathogenic mutation was higher in consanguineous families compared with non-consanguineous families (87.5 vs 21%; PAmong the diazoxide-unresponsive group, ten patients were medically managed with octreotide therapy and carbohydrate-rich feeds and six patients underwent subtotal pancreatectomy. There was a high incidence of developmental delay and cerebral palsy among diazoxide-unresponsive patients.ConclusionsThis is the largest study to report genotype–phenotype correlations among Turkish patients with CHI. Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%). There is a higher likelihood of genetic diagnosis in patients with early age of presentation, higher birth weight and from consanguineous pedigrees.
- Published
- 2014
38. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course
- Author
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Melek Akar, Zeynep Nagehan Yürük Yıldırım, Mehmet Nuri Ozbek, Çiğdem Seher Kasapkara, Berat Kanar, and Heybet Tüzün
- Subjects
medicine.medical_specialty ,Propionic Acidemia ,Anion gap ,Hypoglycemia ,Critical Care and Intensive Care Medicine ,Gastroenterology ,Lethargy ,Internal medicine ,medicine ,Humans ,Hyperammonemia ,Propionic acidemia ,business.industry ,Infant, Newborn ,Metabolic acidosis ,General Medicine ,Acute Kidney Injury ,medicine.disease ,Combined Modality Therapy ,Endocrinology ,Nephrology ,Vomiting ,Ketonuria ,Female ,medicine.symptom ,business ,Peritoneal Dialysis - Abstract
Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures, and can progress to coma if not identified and treated appropriately. It is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. PA is caused by deficiency of propionyl-CoA carboxylase (PCC), the enzyme that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. Herein, we report a case of 3-day-old neonate with PA presented with acute renal failure and metabolic acidosis was effectively treated by peritoneal dialysis and conventional methods.
- Published
- 2013
39. Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report
- Author
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Riza Taner Baran, Mehmet Nuri Ozbek, and Huseyin Demirbilek
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Diabetic ketoacidosis ,endocrine system diseases ,Adolescent ,Turkey ,Turkish ,Epidemiology ,Endocrinology, Diabetes and Metabolism ,Ethnic group ,Comorbidity ,Annual incidence ,Diabetic Ketoacidosis ,Endocrinology ,medicine ,Humans ,Child ,Type 1 diabetes ,Geography ,business.industry ,Incidence (epidemiology) ,Incidence ,Age Factors ,Infant, Newborn ,Infant ,medicine.disease ,language.human_language ,Diabetes Mellitus, Type 1 ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,language ,Female ,Original Article ,Seasons ,business ,type 1 diabetes mellitus - Abstract
Objective: Variability in the incidence of type 1 diabetes mellitus (T1DM) related to geographical region, ethnic background, gender, and age indicates a need for further epidemiological studies. To date, there are no reported studies on the incidence of T1DM in the pediatric age group from the Southeastern region of Turkey. To define the incidence, demographic and clinical characteristics of T1DM in children 0-14 years of age in Diyarbakir, one of the largest cities in the Southeast region of Turkey. Methods: Hospital files of patients with the diagnosis of T1DM were reviewed. Data of all patients diagnosed between 1 June 2010 and 31 May 2011 were evaluated. Population data on the 0-14 age group were obtained from the Turkish Statistical Institute (TSI) reports. Results: From a total of 41 T1DM patients, 24 (58.5%) were female (male: 41.5%) with a male/female ratio of 1.4. The overall annual incidence of T1DM was 7.2/105, being 8.7/105 in females and 5.7/105 in males. The peak incidence was found to occur at age 5-9 years in the girls and 10-14 years in the boys. Mean age at diagnosis was 8.1±3.8 years. Rate of presentation with diabetic ketoacidosis was 65.9%. Patients applied most frequently in spring and winter months. Conclusions: In this first T1DM incidence study on the pediatric age group in Diyarbakir, Turkey, T1DM incidence was found to be similar to that in countries with low-middle incidence. Conflict of interest:None declared.
- Published
- 2013
40. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
- Author
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Mehmet Fatih Kılıçlı, Fatih Gurbuz, Birgül Kirel, Mehmet Nuri Ozbek, Zeynep Şıklar, M. Burcu Kekil, Murat Doğan, Merih Berberoğlu, L. Damla Kotan, Sukran Poyrazoglu, Samim Özen, Yaşar Cesur, Nurçin Saka, Ali Kemal Topaloglu, Bilgin Yüksel, Fatih Temiz, Eda Mengen, Sebila Dökmetaş, Neslihan Önenli Mungan, Ayla Güven, Huseyin Demirbilek, CESUR, Yaşar, Çukurova Üniversitesi, [Gurbuz, Fatih -- Mengen, Eda -- Temiz, Fatih -- Mungan, Neslihan Onenli -- Yuksel, Bilgin -- Topaloglu, Ali Kemal] Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, Turkey -- [Kotan, L. Damla -- Kekil, M. Burcu -- Topaloglu, Ali Kemal] Cukurova Univ, Inst Sci, Dept Biotechnol, Adana, Turkey -- [Siklar, Zeynep -- Berberoglu, Merih] Ankara Univ, Fac Med, Dept Pediat Endocrinol, TR-06100 Ankara, Turkey -- [Dokmetas, Sebila -- Kilicli, Mehmet Fatih] Cumhuriyet Univ, Dept Endocrinol, Fac Med, Sivas, Turkey -- [Guven, Ayla] Goztepe Educ & Res Hosp, Dept Pediat Endocrinol, Istanbul, Turkey -- [Kirel, Birgul] Osmangazi Univ, Dept Pediat Endocrinol, Fac Med, Eskisehir, Turkey -- [Saka, Nurcin -- Poyrazoglu, Sukran] Istanbul Univ, Fac Med, Dept Pediat Endocrinol, Istanbul, Turkey -- [Cesur, Yasar -- Dogan, Murat] Yuzuncu Yil Univ, Dept Pediat Endocrinol, Fac Med, Van, Turkey -- [Ozen, Samim] Mersin Childrens Hosp, Dept Pediat Endocrinol, Mersin, Turkey -- [Ozbek, Mehmet Nuri -- Demirbilek, Huseyin] Diyarbakir Childrens Hosp, Dept Pediat Endocrinol, Diyarbakir, Turkey, Onenli Mungan, Halise Neslihan -- 0000-0001-7862-3038, GUVEN, AYLA -- 0000-0002-2026-1326, Kotan, Leman Damla -- 0000-0001-6176-8986, gurbuz, fatih -- 0000-0003-2160-9838, and yuksel, bilgin -- 0000-0003-4378-3255
- Subjects
Adult ,Male ,genetic structures ,Adolescent ,Turkey ,Neurokinin B ,Endocrinology, Diabetes and Metabolism ,Anosmia ,Gene mutation ,medicine.disease_cause ,Gene ,Receptors, G-Protein-Coupled ,Cohort Studies ,Young Adult ,Endocrinology ,Hypogonadotropic hypogonadism ,Hyposmia ,Tachykinins ,medicine ,Humans ,Protein Isoforms ,Prospective Studies ,Prospective cohort study ,gene ,Genetic Association Studies ,Genetics ,Family Health ,Mutation ,Kisspeptins ,Normosmic idiopathic hypogonadotropic hypogonadism ,business.industry ,Hypogonadism ,GNRHR ,Infant ,Receptors, Neurokinin-3 ,medicine.disease ,Pediatrics, Perinatology and Child Health ,Original Article ,medicine.symptom ,business ,Receptors, LHRH ,Receptors, Kisspeptin-1 - Abstract
WOS: 000209012700002, PubMed ID: 22766261, Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.
- Published
- 2012
41. Transient nephrogenic diabetes insipidus caused by fetal exposure to haloperidol
- Author
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Berat Kanar, Mehmet Nuri Ozbek, Heybet Tüzün, Melek Akar, Çiğdem Seher Kasapkara, and Bedri Aldudak
- Subjects
Adult ,medicine.medical_specialty ,Diabetes Insipidus, Nephrogenic ,Critical Care and Intensive Care Medicine ,Fetal exposure ,behavioral disciplines and activities ,Pregnancy ,Lactation ,Internal medicine ,medicine ,High doses ,Haloperidol ,Humans ,Adverse effect ,Fetus ,business.industry ,Infant, Newborn ,General Medicine ,Nephrogenic diabetes insipidus ,medicine.disease ,medicine.anatomical_structure ,Endocrinology ,Nephrology ,Prenatal Exposure Delayed Effects ,Female ,business ,Antipsychotic Agents ,medicine.drug - Abstract
Haloperidol is commonly used in the treatment of psychiatric disorders. Data from animal experiments indicate haloperidol is not teratogenic, but is embryotoxic in high doses. For the first time, we report a neonate with transient nephrogenic diabetes insipidus (DI) caused by fetal exposure to haloperidol. The magnitude of risk associated with the use of haloperidol during pregnancy appears to be small, but nephrogenic DI secondary to haloperidol is a serious condition with the risk of hypernatremic dehydration. Haloperidol can have adverse effects on the fetus and newborn infant, that's why one should prevent the use of haloperidol during pregnancy and lactation.
- Published
- 2014
42. Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
- Author
-
A. Kemel Topalglu, Seref Erdogan, M. Bertan Yılmaz, Robert P. Millar, Fatih Gurbuz, Mehmet Nuri Ozbek, Fatih Temiz, Bilgin Yüksel, Javier Tello, and L. Damla Kotan
- Subjects
Genetics ,endocrine system ,Hypogonadotropic hypogonadism ,business.industry ,Mutation (genetic algorithm) ,medicine ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,business ,hormones, hormone substitutes, and hormone antagonists - Abstract
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TUBITAK] and others.)
- Published
- 2012
43. Giant virilizing adrenocortical carcinoma in a girl presenting with mutism
- Author
-
Selver Ozekinci, Murat Kemal Cigdem, Huseyin Demirbilek, Serhan Küpeli, Mehmet Nuri Ozbek, and Ahmet Baran
- Subjects
Pediatrics ,medicine.medical_specialty ,Adenoma ,business.industry ,Tumor biology ,Adjuvant chemotherapy ,media_common.quotation_subject ,Treatment options ,medicine.disease ,Resection ,Surgery ,Carcinoma ,Medicine ,Adrenocortical carcinoma ,Girl ,business ,media_common - Abstract
Adrenocortical tumors (ACT) are rare tumors of childhood. There are some difficulties in classification of pediatric ACT as adenoma or carcinoma. Prognostic characteristics as well as treatment choices are controversial. In general virilizing ACT are presenting at earlier age than non-functional tumors. Here we presented an early presented, delayed diagnosed giant virilizing adrenocortical tumor in a girl presented with mutism. Present case is interesting both in complaints at the presentation and the nature of tumor biology. Based on previously reported prognostic criteria present case had borderline characteristics and treatment option was only total resection of the tumor without adjuvant chemotherapy.
- Published
- 2011
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