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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
The impact of parental phubbing on social withdrawal in preschool children: the serial mediating roles of parent-child conflict and negative emotions.
BMC Psychol
January 2025
Faculty of Education, Northeast Normal University, Changchun, 130022, China.
Background: The positive association of parental phubbing with internalizing and externalizing problems among adolescents has gained academic traction. However, current researches on the negative impacts of parental phubbing have focused primarily on adolescents, with a noticeable lack of studies concerning preschool children, and there is also a deficiency in investigations from the perspective of the Risky Family Model. These gaps limit our understanding of how parental phubbing affects problem behaviors among preschool children.
View Article and Find Full Text PDFWhen is synthetic sufficient? Ethical considerations and alternatives in simulation-based ultrasound education.
Adv Simul (Lond)
January 2025
RCSI SIM Centre for Simulation Education and Research, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
Simulation-based education (SBE) has become an integral part of training in health professions education, offering a safe environment for learners to acquire and refine clinical skills. As a non-ionising imaging modality, ultrasound is a domain of health professions education that is particularly supported by SBE. Central to many simulation programs is the use of animal models, tissues, or body parts to replicate human anatomy and physiology.
View Article and Find Full Text PDFExploring the contribution of integrated healthcare practices to malaria control in Ghana: perspectives of medical herbalists.
BMC Complement Med Ther
January 2025
Public Health and Tropical Medicine, James Cook University, Townsville, QLD, 4811, Australia.
Background: The integration of herbal and orthodox medicines has gained momentum in global health, ensuring improved management of infectious diseases like malaria. This study explored the experiences of medical herbalists working in Ghana's diverse ecological zones to understand the contributions of integrated healthcare to malaria control.
Methods: A phenomenological design was employed to conduct in-depth interviews with 19 purposively sampled medical herbalists.
Benefits, challenges, and best practices of collaborative partnerships among health supply chain stakeholders in Rwanda: a cross-sectional study.
BMC Health Serv Res
January 2025
School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, P.O. Box 3286, Kigali, Rwanda.
Background: Strong partnerships, community engagement, and multisectoral collaboration in the health supply chain are synergistic pillars towards achieving universal health coverage. In Rwanda, the health supply chain involves the collaboration of various stakeholders, including distributors, manufacturers, wholesalers, and customers. However, since the eruption and ending of COVID-19, there has not been any study to assess stakeholders' perspectives on the status of the benefits, challenges, and best practices of collaborative partnerships among health supply chain stakeholders in Rwanda.
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