Search
Now showing items 1-9 of 9
Left and right ventricular functions may be impaired in children diagnosed with subclinical hypothyroidism
(Nature Research, 2020)
Subclinical hypothyroidism (SH) may infuence both ventricular functions. The aim of this study was
to evaluation the fndings of Tissue Doppler Imaging (TDI) and other echocardiography modalities
in children with SH. We ...
Nationwide Turkish cohort study of hypophosphatemic rickets
(Galenos Yayincilik, 2020)
Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect ...
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
(American Society for Clinical Investigation, 2020)
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in ...
A different perspective of elevated lactace in pediatric patients with diabetic ketoacidosis
(Romanian Academy, 2020)
Objective: This study aims to determine the frequency and prognostic significance of lactic acidosis in children with diabetic ketoacidosis (DKA) admitted to the pediatric intensive care unit.
Methods: The study was ...
A novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasia
(Taylor & Francis Group, 2020)
Introduction: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of ...
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
(Taylor & Francis Group, 2020)
Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17α-hydroxylase ...
Novel markers in predicting non-alcoholic liver fatty and metabolic syndrome in obese children and adolescents: Atherogenic index of plasma and monocyte / high-density lipoprotein cholesterol ratio
(2020)
Aim: The aim of this study is to investigate the relationship between metabolic syndrome (MetS), insulin resistance, waist
circumference (WC) and non-alcoholic fatty liver disease (NAFLD) with atherogenic index of plasma ...
Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families
(Springer, 2021)
Purpose: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) ...
Does subclinical hypothyroidism affect lipid and epicardial fat tissue thickness in children?
(Medcom, 2021)
Objective: The aim of this study was to measure serum lipid levels and epicardial adipose tissue thickness in patients determined with subclinical hypothyroidism. Methods: The study included 61 paediatric patients with a ...
