114 results match your criteria: "Diyarbakir Children's Hospital[Affiliation]"
J Clin Res Pediatr Endocrinol
January 2025
İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Department of Pediatric Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.
Unlabelled: 3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases.
View Article and Find Full Text PDFJ Clin Lipidol
August 2024
Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey (Drs Tekes).
Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.
Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.
Scand J Immunol
December 2024
Department of Pediatric Immunology and Rheumatology, Bursa Uludag University Faculty of Medicine, Bursa, Turkey.
The clinical picture of the TCF3 deficiency may manifest differently from neutropenia to antibody production defects.
View Article and Find Full Text PDFImmunology
January 2025
Department of Pediatric Immunology and Rheumatology, Bursa Uludag University, Faculty of Medicine, Bursa, Turkey.
Turk Arch Pediatr
April 2024
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Caffeine is frequently used for the treatment of apnea in preterm babies. Its mechanism of action includes not only antagonism of adenosine receptors on central nervous system but also an increase in electrical activity of the diaphragm. Caffeine's direct effect on diaphragm was investigated via electromyography, but ultrasound has not been used to show visible changes in muscles after the treatment before.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
August 2024
Department of Pediatric Nutrition and Metabolism, Rebuplic of Turkey Ministry of Health Diyarbakir Children's Hospital, Diyarbakir, Türkiye.
Objectives: We aimed to cardiologically evaluate the consequences of glycosaminoglycan (GAG) accumulation in the large vessels of patients with mucopolysaccharidosis (MPS).
Methods: The left ventricular wall thickness, left ventricular mass (LVmass) were evaluated and aortic annulus diameter (AA), aortic sinus valsalva diameter (SV), sinotubular junction diameter (STJ), systolic aortic diameter (ADs), diastolic aortic diameter (ADd) body indices were obtained by dividing by the surface area. Aortic distensibility and stiffness index were obtained using aortic strain.
Am J Med Genet A
October 2024
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondylo-epi-metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused by homozygous or compound heterozygous variants in DYM, while biallelic causative variants in RAB33B lead to SMC type 2. The terminology "skeletal golgipathies" has been recently used to describe these conditions, highlighting the pivotal role of these two genes in the organization and intracellular trafficking of the Golgi apparatus.
View Article and Find Full Text PDFTurk J Med Sci
May 2024
Department of Pediatric Neurology, Diyarbakır Children's Hospital, Diyarbakır, Turkiye.
Background/aim: The aim herein was to investigate epileptiform discharges on electroencephalogram (EEG), their correlation with glutamic acid decarboxylase 65 autoantibody (GAD-ab) in newly diagnosed pediatric type 1 diabetes mellitus (T1DM) patients and interpret their medium-term utility in predicting epilepsy.
Materials And Methods: Children presenting with T1DM between July 2018 and December 2019 were included in this prospective longitudinal study. Patients with a history of head injury, chronic illness, neurological disorder, seizure, autism, or encephalopathy were excluded.
Cardiovasc J Afr
March 2024
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Diyarbakir Children's Hospital, Diyarbakır, Turkey.
Objective: In Wilson's disease (WD), copper accumulation in the organs and/or damage caused by oxygen free radicals occurs due to disturbances in copper excretion. In our study, we aimed to evaluate cardiac involvement with advanced echocardiographic modalities (tissue Doppler echocardiography, strain and strain-rate echocardiography).
Methods: Twenty WD patients and 20 healthy children from the Pediatric Gastroenterology Department of Diyarbakır Children's Hospital were included in the study between 2022 and 2023.
J Med Genet
June 2024
Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.
Background: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in or . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum.
View Article and Find Full Text PDFMol Genet Metab Rep
June 2024
Department of Pediatric Nutrition and Metabolism, Manisa City Hospital, Manisa, Turkey.
Aim: It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases.
Methods: We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine.
Eur Rev Med Pharmacol Sci
March 2024
Department of Pediatrics, Division of Metabolism, Diyarbakir Children's Hospital, Diyarbakir, Turkey.
Background: This study aimed to evaluate clinical, biochemical, and genotypic findings of patients diagnosed with urea cycle mitochondrial transporter disorders.
Case Series: In this study, patients followed up with the diagnosis of urea cycle mitochondrial transporter disorders in the pediatric metabolism outpatient clinic of Diyarbakir Children's Hospital were retrospectively examined. Height, weight, head circumference, gender, age at diagnosis, follow-up period, consanguinity history between parents, and treatments of the patients included in the study were evaluated.
J Pediatr Endocrinol Metab
April 2024
Department of Pediatric Endocrinology, Hepatology and Nutrition, 653583 Diyarbakir Children's Hospital, Diyarbakır, Türkiye.
Objectives: This study aimed to analyze the cardiac effects of hyperandrogenism in premature adrenarche (PA) and evaluate the risk of arrhythmia development.
Methods: Fifty patients with PA and 50 healthy children from a pediatric endocrinology outpatient clinic were included in the study. The patients underwent echocardiography and electrocardiographic evaluations.
Nephrol Dial Transplant
August 2024
İstanbul University - Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul, Türkiye.
Nephrology (Carlton)
April 2024
Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey.
Background: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey.
View Article and Find Full Text PDFSaudi J Kidney Dis Transpl
January 2023
Department of Pediatric Nephrology, Diyarbakir Children's Hospital, Diyarbakir, Turkey.
Pediatr Nephrol
May 2024
Division of Pediatric Nephrology, Cerrahpaşa Medical Faculty, İstanbul University - Cerrahpaşa, İstanbul, Turkey.
Clin Imaging
January 2024
Department of Radiology, Diyarbakir Children's Hospital, Diyarbakir, Turkey.
Purpose: Our aim is the early detection of mucopolysaccharidosis (MPS) by examining the radiographs taken for reasons other than a metabolic disease, such as infection, trauma, and short stature.
Methods: The radiographs of children who applied to outpatient and emergency clinics in our hospital between 01/01/2022 and 31/12/2022 were examined by a pediatric radiologist retrospectively without knowledge of patient information. The MPS enzyme panel and urine glycosaminoglycan analysis were performed in patients having dysostosis multiplex on radiographs.
Psychiatr Danub
November 2023
International Gaming Research Unit, Psychology Department, Nottingham Trent University, Nottingham, UK.
Aims: To compare adolescents clinically diagnosed with Internet Gaming Disorder (IGD) and problematic internet use (PIU) in terms of cyberbullying, aggression, and loneliness.
Methods: Male adolescent patients (N=124, 14.3±1.
J Clin Res Pediatr Endocrinol
March 2024
Diyarbakır Children’s Hospital, Department of Pediatric Psychiatry, Diyarbakır, Turkey
Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 () gene.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
January 2024
Department of Pediatric Endocrinology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Türkiye.
Objective: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases.
Design: National, multicenter and retrospective study.
J Clin Ultrasound
October 2023
Department of Pathology, Dicle University, School of Medicine, Diyarbakır, Turkey.
Characteristic ultrasound features of large cell calcifying Sertoli cell tumor (LCCSCT), including hypoechoic masses with amorphous coarse calcifications can aid in differentiating this tumor from other entities. Bilateral multiple LCCSCTs almost always show a benign course; therefore, defining the diagnosis with sonographic findings is crucial to avoid unnecessary orchiectomy.
View Article and Find Full Text PDFTurk J Pediatr
July 2023
Department of Pediatric Endocrinology, Diyarbakir Children's Hospital, Diyarbakır, Türkiye.
Background: Rapid changes in the size of the pituitary gland occur during the pubertal period. Therefore, measuring and reporting magnetic resonance imaging (MRI) in adolescents with pituitary disorders can cause unease among radiologists. Our aim was to compare the size of the pituitary gland, stalk and other previously described imaging tools in patients with isolated hypogonadotropic hypogonadism (HH) versus adolescents with a normal pituitary gland.
View Article and Find Full Text PDFMol Genet Metab Rep
September 2023
Izmir Katip Celebi University, Tepecik Research and Training Hospital, Department of Pediatrics, Division of Pediatric Metabolism, Izmir, Turkey.
Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders. They are both classified as, and it is suggested that these two disorders may share a common metabolic pathway.
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