Adolescence is a natural time for sexual exploration; developmentally-appropriate sexual education is essential to promote healthy behaviors and prevent long-term morbidity. Adolescents may confide in their primary care clinicians, who are responsible for providing information and access to evidence-based care including family planning, contraception, and abortion. Clinicians are essential in sexually transmitted infection prevention, screening, treatment, risk mitigation, and harm reduction for sexually active adolescents.
View Article and Find Full Text PDFMutation analysis provides confirmation of a clinical and radiological diagnosis of thanatophoric dysplasia types I and II (TD I and II). We developed a single multiplexed PCR and a single-nucleotide extension (SNE) assay to identify 14 common mutations causing 99% of TD I and TD II, including the challenging three adjacent mutations in the stop codon of exon 18 of the FGFR3 gene. The assay design also provides a solution for resolving SNE PCR product sizing using performance optimized polymer-7.
View Article and Find Full Text PDFMotivation: Detection of germline variants in next-generation sequencing data is an essential component of modern genomics analysis. Variant detection tools typically rely on statistical algorithms such as de Bruijn graphs or Hidden Markov models, and are often coupled with heuristic techniques and thresholds to maximize accuracy. Despite significant progress in recent years, current methods still generate thousands of false-positive detections in a typical human whole genome, creating a significant manual review burden.
View Article and Find Full Text PDFDisabil Rehabil
September 2024
Purpose: Pathways and Resources for Engagement and Participation (PREP) is an intervention to optimise individuals' participation by building problem-solving capacity and addressing environmental barriers. We investigated the feasibility of implementing PREP with young adults (18-30 years) with complex disability in Australia.
Materials And Methods: Explanatory sequential mixed methods study in three stages.
Background And Objectives: Family physicians are the most common health professional providing rural obstetric (OB) care, but the number of family physicians practicing OB is declining. To address rural/urban disparities in parental and child health, family medicine must provide robust OB training to prepare family physicians to care for parent-newborn dyads in rural communities. This mixed-methods study aimed to inform policy and practice solutions.
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