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Exploring Health Educational Interventions for Children With Congenital Heart Disease: Scoping Review.
JMIR Pediatr Parent
January 2025
Department of Design Innovation, College of Design, University of Minnesota, Twin Cities, Minneapolis, MN, United States.
Background: Congenital heart disease (CHD) is the most common birth defect, affecting 40,000 births annually in the United States. Despite advances in medical care, CHD is often a chronic condition requiring continuous management and education. Effective care management depends on children's understanding of their condition.
View Article and Find Full Text PDFGenetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFSurgical outcomes after trabeculotomy for primary congenital glaucoma.
Jpn J Ophthalmol
January 2025
Department of Ophthalmology and Visual Science, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Purpose: To investigate outcomes after trabeculotomy in Japanese patients with primary congenital glaucoma (PCG), and to identify risk factors for multiple glaucoma surgery procedures.
Study Design: Retrospective observational study.
Methods: Surgical outcomes were investigated in Japanese patients with PCG who underwent their first glaucoma surgery at Hiroshima University Hospital between January, 2006, and December, 2021.
How To Improve Patient Selection in Individuals With Lower Extremity Amputation Using a Bone-anchored Prosthesis.
Clin Orthop Relat Res
January 2025
Department of Rehabilitation, Radboud University Medical Center, Nijmegen, the Netherlands.
Background: Many patients with a lower limb socket-suspended prothesis experience socket-related problems, such as pain, chronic skin conditions, and mechanical problems, and as a result, health-related quality of life (HRQoL) is often negatively affected. A bone-anchored prosthesis can overcome these problems and improve HRQoL, but these prostheses have potential downsides as well. A valid and reliable tool to assess potential candidates for surgery concerning a favorable risk-benefit ratio between potential complications related to bone-anchored prostheses and improvements in HRQoL is not available yet.
View Article and Find Full Text PDFNewborn screening and the screening laboratory: past, present and future.
Eur Thyroid J
January 2025
A Heijboer, Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam, 1105AZ, Netherlands.
Thyroid hormone (TH) is essential for brain development in utero and during the first two to three years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage.
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