Copy number variants (CNVs), structural alterations in the genome involving duplication or deletion of DNA segments, are implicated in various health conditions. Despite their clinical significance, accurate identification and interpretation of CNVs remain challenging, especially in the context of whole-exome sequencing (WES), which is commonly used in clinical diagnostic laboratories. Although WES offers economic advantages over whole-genome sequencing, it struggles with CNV detection because of technical noise introduced by laboratory and analytic processes.
View Article and Find Full Text PDFBackground: In Ireland the role of advanced nurse practitioner has developed significantly since 2001. This evolution is rooted in the growing recognition of the need for highly skilled nursing professionals to address complex healthcare demands and improve patient outcomes.
Objective: To scope the landscape and identify the effect of advanced nurse practitioners on healthcare provision in Ireland.
Agrochemical active ingredients are among the most toxicologically evaluated chemical substances, and genetically modified (GM) crops must be evaluated for safety and nutritional adequacy. Traditionally, these evaluations are conducted There are concerted efforts in the agrochemical sector to reduce animal testing, but there is also an emphasis on updating test guidelines and fulfilling new data package requirements, which can both result in increased animal testing. The purpose of this project was to generate benchmarks for the numbers of vertebrate animals used in: a) evaluating agrochemical pesticidal active ingredients for human health hazards; and b) assessing GM crops for safety and nutritional adequacy, based on guideline studies for data package requirements.
View Article and Find Full Text PDFBackground: Electronic health records (EHRs) are increasingly used to investigate health inequalities across ethnic groups. While there are some studies showing that the recording of ethnicity in EHR is imperfect, there is no robust evidence on the accuracy between the ethnicity information recorded in various real-world sources and census data.
Methods And Findings: We linked primary and secondary care NHS England data sources with Census 2021 data and compared individual-level agreement of ethnicity recording in General Practice Extraction Service (GPES) Data for Pandemic Planning and Research (GDPPR), Hospital Episode Statistics (HES), Ethnic Category Information Asset (ECIA), and Talking Therapies for anxiety and depression (TT) with ethnicity reported in the census.
The menopausal transition is associated with increased risk for cardiovascular disease (CVD). Hot flashes (HF), a cardinal symptom of menopause, have been associated with increased CVD risk, particularly in perimenopausal women. Flow-mediated dilation (FMD) is an indicator of endothelial function and a subclinical CVD risk factor.
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