Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.
Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.
J Clin Res Pediatr Endocrinol
March 2023
Leydig cell tumors are the most common type of testicular sex cord stromal tumors. Presence of Y chromosome is associated with tumor risk in sex development disorder (DSD), however tumor development without Y chromosome are extremely rare. A 16-year-old boy diagnosed with Leydig cell tumor due to a mass in the right testis was referred after the right orchiectomy.
View Article and Find Full Text PDFBackground: Cranial magnetic resonance imaging (MRI) studies about iron accumulation in children with thalassemia major are quite limited.
Aim: This study aimed to detect neurological findings with cranial MRIs in the pediatric patients with thalassemia major who did not develop any neurological complications.
Materials And Methods: Pediatric patients with thalassemia major who followed in the Pediatric Hematology Unit between 1 July 2017 and 1 January 2019 were included in the study.
Objective: Stroke is one of the major complications of sickle cell disease (SCD). Stroke features either occlusion of, or stenosis at, the origin of one of the large intracerebral arteries, the internal carotid artery (ICA), and/or the middle cerebral artery (MCA).
Purpose: We sought correlations between cerebral blood flow velocities and the laboratory and clinical findings of patients with SCD.
Indian J Pediatr
November 2014
Objective: To determine the risk factors for developing candida infections in pediatric intensive care unit (PICU).
Methods: The present study was conducted as a case-control study and included the population of patients who were admitted to PICU during the period of March 2010-March 2011.
Results: During the study period, a total of 57 patients in PICU had candidemia, 4 cases were excluded due to their PICU stay less than 48 h and one due to the insufficient data.