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UnknownGenome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes.

Aim

Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine ...
S-EPMC8494431 | biostudies-literature
UnknownSex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.

Background

Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dep...
S-EPMC8458480 | biostudies-literature
UnknownThe effects of lowering LDL cholesterol with simvastatin plus ezetimibe in patients with chronic kidney disease (Study of Heart and Renal Protection): a randomised placebo-controlled trial.

Background

Lowering LDL cholesterol with statin regimens reduces the risk of myocardial infarction, ischaemic stroke, and the need for coronary revascularisation in people without kidney disease, but its effects in people with moderate-to-severe kidney disease are uncertain. The SHARP trial ...
S-EPMC3145073 | biostudies-literature
Unknown<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders.
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we...
S-EPMC11030480 | biostudies-literature
UnknownInsights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Genetic factors explain a majority of risk variance for age-related macular degeneration (AMD). While genome-wide association studies (GWAS) for late AMD implicate genes in complement, inflammatory and lipid pathways, the genetic architecture of early AMD has been relatively under studied. We conduc...
S-EPMC3543264 | biostudies-literature
UnknownPrior Sexual Trauma Exposure Impacts Posttraumatic Dysfunction and Neural Circuitry Following a Recent Traumatic Event in the AURORA Study.

Background

Prior sexual trauma (ST) is associated with greater risk for posttraumatic stress disorder after a subsequent traumatic event; however, the underlying neurobiological mechanisms remain opaque. We investigated longitudinal posttraumatic dysfunction and amygdala functional dynamics ...
S-EPMC10593890 | biostudies-literature
UnknownClinical practice guidelines for hepatocellular carcinoma surveillance for people at high risk in Australia: summary of recommendations.

Introduction

Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer, the sixth most common cause of cancer death in Australia. With shifting aetiologies and a growing at-risk population, consistent routine surveillance recommendations are key to early detection of HCC...
S-EPMC12536086 | biostudies-literature
UnknownThe efficacy of adjunctive <i>Garcinia mangostana</i> Linn. (mangosteen) pericarp extract for bipolar depression: 24-week randomised controlled trial.

Background

Bipolar depression remains difficult to treat, and people often experience ongoing residual symptoms, decreased functioning and impaired quality of life. Adjunctive therapies targeting novel pathways can provide wider treatment options and improve clinical outcomes. Garcinia ma...
S-EPMC12628125 | biostudies-literature
UnknownComprehensive inventory of true flies (Diptera) at a tropical site.
Estimations of tropical insect diversity generally suffer from lack of known groups or faunas against which extrapolations can be made, and have seriously underestimated the diversity of some taxa. Here we report the intensive inventory of a four-hectare tropical cloud forest in Costa Rica for one y...
S-EPMC6123690 | biostudies-literature
UnknownUpdate on the third international stroke trial (IST-3) of thrombolysis for acute ischaemic stroke and baseline features of the 3035 patients recruited.

Background

Intravenous recombinant tissue plasminogen activator (rtPA) is approved in Europe for use in patients with acute ischaemic stroke who meet strictly defined criteria. IST-3 sought to improve the external validity and precision of the estimates of the overall treatment effects (effi...
S-EPMC3286387 | biostudies-literature
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