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Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFLinkage to care and prevention after HIV self-testing: a systematic review and meta-analysis.
J Int AIDS Soc
December 2024
School of Translational Medicine, Monash University, Melbourne, Victoria, Australia.
Introduction: Effective linkage to prevention and care is a crucial step following HIV testing services. This systematic review aimed to determine the proportion of individuals linked to prevention and care after HIV self-testing (HIVST) and describe factors associated with linkage.
Methods: Following PRISMA guidelines, a comprehensive search across eight databases (2010-October 2023) identified studies on linkage to care after HIVST, defined as receiving a confirmatory test or initiating antiretroviral therapy (ART) if the self-test was reactive, and/or pre-exposure prophylaxis (PrEP) if the self-test was non-reactive.
Tushirikiane-4-Uthabiti (Supporting Each Other For Resilience): study protocol of a mental health, HIV self-testing and livelihoods randomised controlled trial for advancing HIV prevention outcomes among urban refugee youth in Kampala, Uganda.
BMJ Open
November 2024
Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada.
Introduction: Research with urban refugee youth in Uganda has documented co-occurring social (e.g., poverty) and health (e.
View Article and Find Full Text PDFAim: Aim of the pilot was to increase HIV/HCV/syphilis testing and linkage to care of newly diagnosed persons, improve data collection and transfer using standard data collection tools in CBVCT services.
Methods: Integrated anonymous voluntary testing from blood for HIV, HCV and syphilis was realised using rapid tests in the period of 6 months (03/2019-08/2019). Participants with reactive results were advised to see a specialist for confirmatory testing and/or treatment.
Screening for posttraumatic stress disorder (PTSD) in Mozambique: Validation of the Primary Care Posttraumatic Stress Disorder Screen for Diagnostic and Statistical Manual fifth edition (PC-PTSD-5).
Psychol Trauma
October 2024
Department of Psychiatry, Columbia University Vagelos College of Physicians and Surgeons.
Objective: The confluence of conflict-, climate-, and public health-related emergencies in Mozambique increases the risk of posttraumatic stress disorder (PTSD). Few brief screening tools for PTSD have been validated in low- and middle-income countries. We aimed to validate the five-item Primary Care PTSD Screen for the (5th ed.
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