Frizzled 2 (FZD2) is a transmembrane Wnt receptor. We previously identified a pathogenic human FZD2 variant in individuals with FZD2-associated autosomal dominant Robinow syndrome. The variant encoded a protein with a premature stop and loss of 17 amino acids, including a region of the consensus dishevelled-binding sequence.
View Article and Find Full Text PDFA recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have significantly dropped in price, making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants.
View Article and Find Full Text PDFUkraine has one of the highest levels of HIV prevalence in Europe. Provider-initiated HIV testing and counseling (PITC) is routine during antenatal care (ANC) in Ukraine, with nearly all pregnant women receiving HIV testing. National policies state that testing is voluntary, with consent and confidentiality protections, but little is known about actual testing implementation and adherence to these policies.
View Article and Find Full Text PDFObjectives: We evaluated the combined influences of orphaned status and homelessness on HIV seroprevalence and risk among street-involved Ukrainian youth in 2008.
Design: Systematic, multicity, community-based, cross-sectional assessment.
Methods: Time-location sampling was used to identify eligible youth aged 15-24 after city-wide mapping of 91 sites where street-involved youth gathered in Odessa, Kiev, and Donetsk.
Although street youth are at increased risk of lifetime pregnancy involvement (LPI), or ever becoming or getting someone pregnant, no reports to date describe the epidemiology of LPI among systematically sampled street youth from multiple cities outside of North America. The purpose of our assessment was to describe the prevalence of and risk factors associated with LPI among street youth from three Ukrainian cities. We used modified time-location sampling to conduct a cross-sectional assessment in Odesa, Kyiv, and Donetsk that included citywide mapping of 91 public venue locations frequented by street youth, random selection of 74 sites, and interviewing all eligible and consenting street youth aged 15-24 years found at sampled sites (n = 929).
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