Role of Vitamin D Receptor (BsmI-VDR) and Insulin Receptor (NsiI-A/G) Gene Polymorphisms in Colorectal Adenoma Susceptibility.

Vitamin D deficiency and type 2 diabetes mellitus are risk factors for colorectal cancer, suggesting a role for vitamin D receptor (VDR) and insulin receptor (INSR) gene polymorphisms. We investigated the prevalence of the VDR-BsmI (rs1544410) and NsiI A/G-INSR (rs2059806) polymorphisms and their associations with colorectal adenoma (CRA) in a Romanian population. A case-control study was conducted with 110 participants (67 with CRA and 43 controls) who underwent colonoscopy.

Heatwave attribution based on reliable operational weather forecasts.

The 2021 Pacific Northwest heatwave was so extreme as to challenge conventional statistical and climate-model-based approaches to extreme weather attribution. However, state-of-the-art operational weather prediction systems are demonstrably able to simulate the detailed physics of the heatwave. Here, we leverage these systems to show that human influence on the climate made this event at least 8 [2-50] times more likely.

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.

Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for prenatal testing is expanding because of genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and Bloom syndrome, include increased cancer risk as part of the phenotype, already meet professional guidelines for prenatal testing, and may be associated with increased cancer risk in heterozygous carriers.

Art and the science of generative AI.

Understanding shifts in creative work will help guide AI's impact on the media ecosystem.

The most at-risk regions in the world for high-impact heatwaves.

Heatwaves are becoming more frequent under climate change and can lead to thousands of excess deaths. Adaptation to extreme weather events often occurs in response to an event, with communities learning fast following unexpectedly impactful events. Using extreme value statistics, here we show where regional temperature records are statistically likely to be exceeded, and therefore communities might be more at-risk.

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.

Purpose: Expanded pan-ethnic carrier screening is an effective tool for the management of reproductive risk. However, growth in the number of conditions screened, in combination with increasingly more comprehensive test methodologies, can lead to the detection of genetic findings that may affect the health of the tested individual. The objective of this study was to investigate the frequency of pathogenic genotypes in a presumed healthy carrier screening cohort to facilitate broader discussions regarding disclosure of genetic information from carrier screening.

Sustainable pathways towards climate and biodiversity goals in the UK: the importance of managing land-use synergies and trade-offs.

Unlabelled: Agricultural and environmental policies are being fundamentally reviewed and redesigned in the UK following its exit from the European Union. The UK government and the Devolved Administrations recognise that current land use is not sustainable and that there is now an unprecedented opportunity to define a better land strategy that responds fully to the interconnected challenges of climate change, biodiversity loss and sustainable development. This paper presents evidence from three pathways (current trends, sustainable medium ambition, and sustainable high ambition) to mid-century that were co-created with UK policymakers.

Expression of Selected Genes and Circulating microRNAs in Patients with Celiac Disease.

: Celiac disease (CD) is an immune-mediated enteropathy with characteristic intestinal alterations. CD occurs as a chronic inflammation secondary to gluten sensitivity in genetically susceptible individuals. Until now, the exact cause of the disease has not been established, which is why new studies have appeared that address the involvement of various genes and microRNAs (miRNAs) in the pathogenesis.

Forecast-based attribution of a winter heatwave within the limit of predictability.

Attribution of extreme weather events has expanded rapidly as a field over the past decade. However, deficiencies in climate model representation of key dynamical drivers of extreme events have led to some concerns over the robustness of climate model-based attribution studies. It has also been suggested that the unconditioned risk-based approach to event attribution may result in false negative results due to dynamical noise overwhelming any climate change signal.

Institutional Response and Impact of Reporting Sexual Violence: An Examination of Sexual and Gender Minority College Students.

Although college students who are sexual and gender minorities (SGM) experience higher rates of sexual victimization than their peers who identify as heterosexual and cisgender, there is a paucity in the literature investigating how college campuses can address the needs of SGM college students in violence prevention and response. The present research examines a subset of data from the Healthy Minds Survey (HMS), a national web-based survey administered across two universities from 2016 to 2017. We examined the role of SGM status in the rates of sexual violence, perceptions of their college/university's institutional response to reports of sexual violence (e.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).

Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals).

Smart Distance Lab's art fair, experimental data on social distancing during the COVID-19 pandemic.

In the absence of a vaccine, social distancing behaviour is pivotal to mitigate COVID-19 virus spread. In this large-scale behavioural experiment, we gathered data during Smart Distance Lab: The Art Fair (n = 839) between August 28 and 30, 2020 in Amsterdam, the Netherlands. We varied walking directions (bidirectional, unidirectional, and no directions) and supplementary interventions (face mask and buzzer to alert visitors of 1.

Reduced Complexity Model Intercomparison Project Phase 2: Synthesizing Earth System Knowledge for Probabilistic Climate Projections.

Over the last decades, climate science has evolved rapidly across multiple expert domains. Our best tools to capture state-of-the-art knowledge in an internally self-consistent modeling framework are the increasingly complex fully coupled Earth System Models (ESMs). However, computational limitations and the structural rigidity of ESMs mean that the full range of uncertainties across multiple domains are difficult to capture with ESMs alone.

Extracellular buffer choice influences acid-base responses and gastrointestinal symptoms.

To compare the bicarbonate kinetics and gastrointestinal (GI) symptom responses between an equal dose of sodium bicarbonate and sodium citrate using delayed-release capsules. Thirteen active males (age 20.5 ± 2.

A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.

Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants, especially in repetitive or homologous regions, can be problematic due to uneven read coverage or genome reference bias, resulting in false calls. To circumvent this challenge, a computational approach utilizing customized scaffolds as supplementary reference sequences for read alignment was developed, and its effectiveness demonstrated with two CBS gene variants: NM_000071.

The Health and Socioeconomic Outcomes of Abortion Denial in Rhode Island: A Health Impact Assessment.

Objectives: To determine the health and socioeconomic consequences of comprehensive abortion denial in Rhode Island.

Methods: Using Turnaway Study findings and RI abortion data from 2013-2016, we project the burden of negative outcomes for women and their families under 100% abortion denial conditions.

Results: Findings suggest negative impacts on the health and socioeconomic well-being of RI women and their families.

Enteric-coated sodium bicarbonate supplementation improves high-intensity cycling performance in trained cyclists.

Purpose: Enteric-coated sodium bicarbonate (NaHCO) can attenuate gastrointestinal (GI) symptoms following acute bicarbonate loading, although the subsequent effects on exercise performance have not been investigated. The purpose of this study was to examine the effects of enteric-coated NaHCO supplementation on high-intensity exercise performance and GI symptoms.

Methods: Eleven trained male cyclists completed three 4 km time trials after consuming; a placebo or 0.

Enteric-Coated Sodium Bicarbonate Attenuates Gastrointestinal Side-Effects.

Enteric-formulated capsules can mitigate gastrointestinal (GI) side effects following sodium bicarbonate (NaHCO3) ingestion; however, it remains unclear how encapsulation alters postingestion symptoms and acid-base balance. The current study aimed to identify the optimal ingestion form to mitigate GI distress following NaHCO3 ingestion. Trained males (n = 14) ingested 300 mg/kg body mass of NaHCO3 in gelatin (GEL), delayed-release (DEL), and enteric-coated (ENT) capsules or a placebo in a randomized cross-over design.