7 results match your criteria: "Clinic of Child Health[Affiliation]"
OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.
Acta Endocrinol (Buchar)
October 2024
Izmir Katip Celebi University - Pediatric Endocrinology, Izmir, Turkey.
Article Synopsis
- * Three cases of WS were examined, with diagnoses confirmed through genetic testing, revealing both known and novel mutations in the WFS1 gene.
- * Early diagnosis of WS is crucial as it helps identify associated health issues, potentially reducing complications and improving patient outcomes.
General properties of autoimmune thyroid diseases and associated morbidities.
J Pediatr Endocrinol Metab
April 2020
Clinic of Child Endocrinology, Necmettin Erbakan University Meram Medical Faculty Hospital, Konya, Turkey.
Background Autoimmune thyroid diseases (ATDs) can be classified into two basic diseases: Graves' disease (GD) and Hashimoto's thyroiditis (HT). Here, we review the effectiveness of laboratory and imaging methods used for the early diagnosis of ATD and draw attention to methods that may improve screening. Methods Retrospective data of 142 patients diagnosed with ATD between January 2010 and December 2015 at our paediatric endocrinology clinic were used.
View Article and Find Full Text PDFA Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the Gene and Report of One Year Follow-up with Enzyme Replacement Therapy.
J Clin Res Pediatr Endocrinol
September 2019
University of Health Sciences, Süleymaniye Women Maternity and Child Diseases Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, Turkey
Hypophosphatasia (HPP) is a rare disease caused by mutations in the gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatment (ERT) mineralizes the skeleton and improves respiratory function and survival in severe forms of HPP.
View Article and Find Full Text PDFNeonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.
J Clin Res Pediatr Endocrinol
July 2018
University of Glasgow Faculty of Medicine, Royal Hospital for Children, Clinic of Child Health, Glasgow, United Kingdom
Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.
Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.
Urinary Netrin-1: A New Biomarker for the Early Diagnosis of Renal Damage in Obese Children.
J Clin Res Pediatr Endocrinol
September 2016
Gülhane Military Medical Academy, Haydarpaşa Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, Turkey E-mail:
Objective: Urinary netrin-1 is a new marker to demonstrate early tubular damage. The aim of this study was to determine whether urinary netrin-1 is increased in obese children.
Methods: A total of 68 normoalbuminuric and normotensive obese patients and 65 controls were included in the study.
Elevated Urinary T Helper 1 Chemokine Levels in Newly Diagnosed Hypertensive Obese Children.
J Clin Res Pediatr Endocrinol
September 2015
Gülhane Military Medical Academy, Haydarpaşa Training Hospital, Clinic of Child Health and Diseases, İstanbul, Turkey Phone: +90 216 542 20 20 E-mail:
Objective: Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity and anti-hypertensive treatment on urinary Th1 chemokines.
Methods: The study groups consisted of three types of patients: hypertensive obese, healthy, and non-hypertensive obese.
Frequency and phylogeny of norovirus in diarrheic children in Istanbul, Turkey.
J Clin Virol
July 2011
Başkent University Hospital, Clinic of Child Health and Diseases, Altunizade, Istanbul, Turkey.
Background: Norovirus (NoV) is recognised as one of the most common causes of foodborne infections. Contaminated shellfish, food, water and hospitals are well documented sources of the virus.
Objective: NoV in diarrheic children has not previously been investigated in Istanbul, Turkey, hence the aim of this study was to detect and investigate the frequency and phylogeny of human NoV genogroups I and II in children with acute gastroenteritis.