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Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFA case of "malignant" congenital heart disease with abnormal left coronary origin.
Quant Imaging Med Surg
January 2025
Department of Radiology, Jiangxi Provincial People's Hospital, Nanchang, China.
Wellbeing and quality of life among parents of individuals with Fontan physiology.
Qual Life Res
January 2025
Heart and Mind Wellbeing Center, Heart Institute and Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue (MLC 7039), Cincinnati, OH, 45229, USA.
Purpose: To examine global and health-related quality of life (QOL) among parents of individuals with Fontan physiology and determine associations with sociodemographic, parent and child-related health, psychological, and relational factors.
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Emotional and psychosocial functioning in youngsters with a congenital heart disease (CHD) in comparison to healthy controls.
J Pediatr Nurs
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Ghent University Hospital, Department of Pediatrics, Pediatric Cardiology, Ghent, Belgium.
Objective: Due to their medical vulnerability, youngsters with congenital heart disease (CHD) may experience more overwhelming emotions than healthy peers. This multi-informant-based study aims to examine differences between these youngsters and their peers in psychosocial functioning, attachment and emotion regulation.
Study Design: 217 youngsters (8-18 years) with CHD (53.
Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
JAMA Pediatr
January 2025
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.
Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.
Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.
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