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UnknownMind your Ps: A probabilistic model to aid the interpretation of molecular epidemiology data.

Background

Assessing relatedness of pathogen sequences in clinical samples is a core goal in molecular epidemiology. Tools for Bayesian analysis of phylogeny, such as the BEAST software package, have been typically used in the analysis of sequence/time data in public health. However, they ar...
S-EPMC9006250 | biostudies-literature
UnknownA novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
The pleiotropic actions of interleukin-2 (IL-2) are essential for regulation of immune responses and maintenance of immune tolerance. The IL-2 receptor (IL-2R) is composed of IL-2Rα, IL-2Rβ, and IL-2Rγ subunits, with defects in IL-2Rα and IL-2Rγ and their downstream signaling effectors resulting in ...
S-EPMC6547857 | biostudies-literature
UnknownNavigating care: a multicentre US survey of health literacy in paediatric perioperative care.

Background

Health literacy is a critical determinant of patient outcomes and adherence to medical recommendations across healthcare settings, but it remains unexplored in the paediatric perioperative care. We evaluated the prevalence of limited health literacy among caregivers of paediatric ...
S-EPMC12597340 | biostudies-literature
UnknownSilencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation.
Nonalcoholic fatty liver disease (NAFLD) is considered the next major health epidemic with an estimated 25% worldwide prevalence. No drugs have yet been approved and NAFLD remains a major unmet need. Here, we identify MCJ (Methylation-Controlled J protein) as a target for non-alcoholic steatohepatit...
S-EPMC7334216 | biostudies-literature
UnknownIdentical and Nonidentical Twins: Risk and Factors Involved in Development of Islet Autoimmunity and Type 1 Diabetes.

Objective

There are variable reports of risk of concordance for progression to islet autoantibodies and type 1 diabetes in identical twins after one twin is diagnosed. We examined development of positive autoantibodies and type 1 diabetes and the effects of genetic factors and common environ...
S-EPMC6341285 | biostudies-literature
UnknownPreventive behavior against SARS-CoV-2 infection in adults according to whether or not they live with children. A combined analysis of the nationwide COSMO-SPAIN and ENE-COVID surveys.

Introduction

The protection of children is a major driver of behavior among those in charge of their care. We evaluated whether compliance with preventive measures against SARS-CoV-2 infection among adults living with children was different from that of those not living with them, in 2020.
S-EPMC9996036 | biostudies-literature
UnknownMexican Biobank advances population and medical genomics of diverse ancestries.
Latin America continues to be severely underrepresented in genomics research, and fine-scale genetic histories and complex trait architectures remain hidden owing to insufficient data1. To fill this gap, the Mexican Biobank project genotyped 6,057 individuals from 898 rural and urban loca...
S-EPMC10600006 | biostudies-literature
UnknownIndirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.

Introduction

Lenadogene nolparvovec is a promising novel gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A ND4 mutation (MT-ND4). A previous pooled analysis of phase 3 studies showed an improvement in visual acuity of patients injected with lenad...
S-EPMC9834474 | biostudies-literature
UnknownLipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol.

Background

Guidelines recommend nonstatin lipid-lowering agents in patients at very high risk for major adverse cardiovascular events (MACE) if low-density lipoprotein cholesterol (LDL-C) remains ≥70 mg/dL on maximum tolerated statin treatment. It is uncertain if this approach benefits patie...
S-EPMC8822604 | biostudies-literature
UnknownPaediatric difficult intubations and the impact of timing of weekend versus weekday cases: an analysis of the Pediatric Difficult Intubation registry.

Background

Off-hours presentation has been shown to be independently associated with tracheal intubation-related adverse events in patients with predicted difficult airway. The comparison of the complication rates of paediatric difficult intubations on weekends vs weekdays is unknown. The pr...
S-EPMC12597374 | biostudies-literature
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