114 results match your criteria: "Diyarbakir Children's Hospital[Affiliation]"

Central Adrenal Insufficiency: Etiology and Diagnostic Approach.

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.

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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.

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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.

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The clinical picture of the TCF3 deficiency may manifest differently from neutropenia to antibody production defects.

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Coexistence of IL12Rβ1 and BTK Mutations in a Family.

Immunology

January 2025

Department of Pediatric Immunology and Rheumatology, Bursa Uludag University, Faculty of Medicine, Bursa, Turkey.

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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.

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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.

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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.

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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.

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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.

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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

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.

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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.

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Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders.

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.

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Evaluation of cardiac electrophysiological features in patients with premature adrenarche.

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.

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Pediatric kidney care experience after the 2023 Türkiye earthquake.

Nephrol Dial Transplant

August 2024

İstanbul University - Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul, Türkiye.

Article Synopsis
  • Two devastating earthquakes in Türkiye on February 6, 2023, resulted in significant injuries to 903 children, with a focus on crush syndrome-related acute kidney injury (Crush-AKI) and mortality.
  • The study tracked various factors, including the time under rubble, treatment protocols, and patient outcomes, revealing that Crush-AKI developed in 36% of the patients, and over half required dialysis.
  • Key findings included that serum levels of creatine phosphokinase above 20,950 U/L and inadequate initial intravenous fluid volume were linked to Crush-AKI, and most deaths occurred among those with Crush-AKI within the first four days of admission.
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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.

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Article Synopsis
  • - The study analyzed the clinical and laboratory characteristics of 50 pediatric patients on peritoneal dialysis (PD) to identify factors impacting mortality, finding a high mortality rate among this population.
  • - Key findings indicated that younger patients starting PD, those with lower albumin levels, and higher ferritin levels were at an increased risk of mortality, with survival rates at 1, 2, and 5 years being 81.8%, 51.7%, and 12.3%, respectively.
  • - The research highlights that conditions such as hypoalbuminemia and young age significantly correlate with poorer outcomes, emphasizing the need for careful monitoring and intervention in these patients.
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Article Synopsis
  • Myelomeningocele (MMC) is a condition that affects many kids in developing countries like Turkey, and it can lead to kidney problems known as chronic kidney disease (CKD).
  • A study in Turkey looked at children with MMC to find out how many had different stages of CKD and what factors made their kidney health worse.
  • The results showed that 5.3% of the kids had CKD stage 5, and certain medical conditions were linked to an increased risk of serious kidney problems. To help these kids, doctors suggest taking early action in managing their bladder issues to prevent kidney failure.
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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.

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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.

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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.

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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.

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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.

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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.

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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Mol 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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