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UnknownA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neur...
S-EPMC3303079 | biostudies-literature
UnknownIndividual common variants exert weak effects on the risk for autism spectrum disorders.
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Proje...
S-EPMC3471395 | biostudies-literature
UnknownA genome-wide scan for common alleles affecting risk for autism.
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD fa...
S-EPMC2947401 | biostudies-literature
UnknownEffect of Convalescent Plasma on Organ Support-Free Days in Critically Ill Patients With COVID-19: A Randomized Clinical Trial.

Importance

The evidence for benefit of convalescent plasma for critically ill patients with COVID-19 is inconclusive.

Objective

To determine whether convalescent plasma would improve outcomes for critically ill adults with COVID-19.

Design, setting, and participants

The ongoing...
S-EPMC8491132 | biostudies-literature
UnknownAdjuvant Olaparib for Patients with <i>BRCA1</i>- or <i>BRCA2</i>-Mutated Breast Cancer.

Background

Poly(adenosine diphosphate-ribose) polymerase inhibitors target cancers with defects in homologous recombination repair by synthetic lethality. New therapies are needed to reduce recurrence in patients with BRCA1 or BRCA2 germline mutation-associated early breast can...
S-EPMC9126186 | biostudies-literature
UnknownEffect of SGLT2 Inhibitors on Stroke and Atrial Fibrillation in Diabetic Kidney Disease: Results From the CREDENCE Trial and Meta-Analysis.

Background and purpose

Chronic kidney disease with reduced estimated glomerular filtration rate or elevated albuminuria increases risk for ischemic and hemorrhagic stroke. This study assessed the effects of sodium glucose cotransporter 2 inhibitors (SGLT2i) on stroke and atrial fibrillation/...
S-EPMC8078131 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying...
S-EPMC8674144 | biostudies-literature
UnknownSelf-expanding Transcatheter vs Surgical Aortic Valve Replacement in Intermediate-Risk Patients: 5-Year Outcomes of the SURTAVI Randomized Clinical Trial.

Importance

In patients with severe aortic valve stenosis at intermediate surgical risk, transcatheter aortic valve replacement (TAVR) with a self-expanding supra-annular valve was noninferior to surgery for all-cause mortality or disabling stroke at 2 years. Comparisons of longer-term clinic...
S-EPMC9403849 | biostudies-literature
UnknownValidation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery.

Background

Postoperative acute kidney injury (AKI) is a common complication of major gastrointestinal surgery with an impact on short- and long-term survival. No validated system for risk stratification exists for this patient group. This study aimed to validate externally a prognostic model...
S-EPMC8855527 | biostudies-literature
UnknownElective surgery cancellations due to the COVID-19 pandemic: global predictive modelling to inform surgical recovery plans.

Background

The COVID-19 pandemic has disrupted routine hospital services globally. This study estimated the total number of adult elective operations that would be cancelled worldwide during the 12 weeks of peak disruption due to COVID-19.

Methods

A global expert response study was co...
S-EPMC7272903 | biostudies-literature
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