A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background.Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene.It encodes for a veuve ambal rose

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Causal machine learning models for predicting low birth weight in midwife-led continuity care intervention in North Shoa Zone, Ethiopia

Abstract Background Low birth weight (LBW) is a critical global health issue that affects infants disproportionately, particularly in developing countries.This study adopted causal machine learning (CML) algorithms for predicting LBW in newborns, drawing from midwife-led continuity care (MLCC).Methods A quasi-experimental study was carried out in t

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A Novel High Throughput, Parallel Infection Assay for Determining the Replication Capacities of 346 Primary HIV-1 Isolates of the Zurich Primary HIV-1 Infection Study in Primary Cells

HIV-1 replication capacity life extension blueberry extract is an important characteristic to understand the replication competence of single variants or virus populations.It can further aid in the understanding of HIV-1 pathogenicity, disease progression, and drug resistance mutations.To effectively study RC, many assays have been established.Howe

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