While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.
View Article and Find Full Text PDFBackground: Pre-exposure prophylaxis (PrEP) is an effective approach to preventing HIV acquisition and recommended for populations over-represented in carceral systems, given the overlap with populations disproportionately impacted by HIV. However, few studies have focused on PrEP initiation outcomes in a carceral setting to maximize public health impact.
Setting: This study was conducted in a unified jail/prison system within the state of Rhode Island located in the United States.
We investigated the effect of center-specific variables on overall survival (OS) after allogeneic hematopoietic cell transplantation (alloHCT) in acute myeloid leukemia (AML). Eligible were adult patients reported to DRST registry receiving first alloHCT for AML from a related or matched (>= 9/10 HLA-match) unrelated donor 2015-2021. Primary endpoint was OS at 12 months from alloHCT.
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