While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.
View Article and Find Full Text PDFBackground: Standardised Diagnostic Assessment tools, such as the Development and Well-Being Assessment (DAWBA), may aid detection and diagnosis of emotional disorders but there is limited real-world evidence of their clinical or cost effectiveness.
Methods: We conducted a multicentre, two-arm parallel group randomised controlled trial in eight large National Health Service Trusts in England providing multidisciplinary specialist Child and Adolescent Mental Health Services (CAMHS). Participants (5-17 year-olds with emotional difficulties referred to CAMHS) were randomly assigned (1:1), following referral receipt, to either receive the DAWBA and assessment-as-usual (intervention group) or assessment-as-usual (control group).
Cognitive aging is described as the age-related decline in areas such as memory, executive function, reasoning, and processing speed. Super-Agers, adults over 80 years old, have cognitive function performance comparable to middle-aged adults. To improve cognitive reserve and potentially decrease Alzheimer's disease (AD) risk, it is essential to contrast changes in regional brain volumes between "Positive-Agers" who have superior cognitive performance compared to their age peers but are not 80 years old yet and aging adults who show cognitive decline (i.
View Article and Find Full Text PDFBackground: Although longer surgical times in primary total hip arthroplasty (THA) are associated with higher complication rates, this has yet to be explored in conversion THA. The purpose of this study is to investigate the relationship between surgical time and complications in the setting of conversion THA with implant removal. We aim to establish a length of surgery after which the risk of complications increases.
View Article and Find Full Text PDFMotile cilia are critical structures that regulate early embryonic development and tissue homeostasis through synchronized ciliary motility. The formation of motile cilia is dependent on precisely controlled sequential processes including the generation, migration, and docking of centrioles/basal bodies as well as ciliary growth. Using the published proteomics data from various organisms, we identified proliferation-associated 2G4 as a novel regulator of ciliogenesis.
View Article and Find Full Text PDFObjective: Black populations show increased incidences of diagnosis, worse disease severity, and earlier likelihood of mortality due to MS. Clinical outcomes are also linked to biological sex and as with Black individuals, MS characteristics between sexes have also shifted overtime. This study examined whether clinical disease progression differed by race and sex for patients with MS.
View Article and Find Full Text PDFBackground: Intensive global food production causes soil, water and air pollution, which has a negative impact on our health and future ability to produce sufficient nutritious food. Plant-based diets have the potential to reduce the environmental damage associated with the global food chain.
Aims: The project sought to understand drivers of food waste and to improve food sustainability in a busy, tertiary referral hospital in England.
Background: Inadequate airway management can contribute to preventable trauma deaths. Current machine learning tools for predicting intubation in trauma are limited to adult populations and include predictors not readily available at the time of patient arrival. We developed a Bayesian network to predict intubation in injured children and adolescents using observable data available upon or immediately after patient arrival.
View Article and Find Full Text PDFThe budding yeast Saccharomyces cerevisiae is an excellent model organism for studying a variety of critical cellular processes. Traditional methods to knock in or -out at specific yeast loci utilize polymerase chain reaction-based techniques, in which marker cassettes with gene-specific homologies are integrated into the genome via homologous recombination. While simple and cost-effective, these methods are limited by marker availability when multiple edits are desired.
View Article and Find Full Text PDFImportance: The indications, safety, and efficacy of chemical venous thromboembolism prophylaxis (cVTE) in pediatric trauma patients remain unclear. A set of high-risk criteria to guide cVTE use was recently recommended; however, these criteria have not been evaluated prospectively.
Objective: To examine high-risk criteria and cVTE use in a prospective multi-institutional study of pediatric trauma patients.
Introduction: Aging is often associated with cognitive decline. Understanding neural factors that distinguish adults in midlife with superior cognitive abilities (Positive-Agers) may offer insight into how the aging brain achieves resilience. The goals of this study are to (1) introduce an optimal labeling mechanism to distinguish between Positive-Agers and Cognitive Decliners, and (2) identify Positive-Agers using neuronal functional connectivity networks data and demographics.
View Article and Find Full Text PDFTuberculous peritonitis (TB peritonitis) is one of the most challenging forms of extrapulmonary TB to diagnose. While tumor markers can be elevated in patients with TB peritonitis, FDG-PET/CT can aid in distinguishing TB peritonitis from malignancies, if an apron-like omentum pattern is seen. Laparoscopy is crucial for accurate and early diagnosis.
View Article and Find Full Text PDFBackground: Eating disorders (EDs) are serious, often chronic, conditions associated with pronounced morbidity, mortality, and dysfunction increasingly affecting young people worldwide. Illness progression, stages and recovery trajectories of EDs are still poorly characterised. The STORY study dynamically and longitudinally assesses young people with different EDs (restricting; bingeing/bulimic presentations) and illness durations (earlier; later stages) compared to healthy controls.
View Article and Find Full Text PDFCytomegalovirus colitis should be considered in a patient presenting with bloody stool even among immunocompetent patients.
View Article and Find Full Text PDFTobacco smoke, alone or combined with alcohol, is the predominant cause of head and neck cancer (HNC). Here, we further explore how tobacco exposure contributes to cancer development by mutational signature analysis of 265 whole-genome sequenced HNC from eight countries. Six tobacco-associated mutational signatures were detected, including some not previously reported.
View Article and Find Full Text PDFInternational differences in the incidence of many cancer types indicate the existence of carcinogen exposures that have not yet been identified by conventional epidemiology make a substantial contribution to cancer burden. In clear cell renal cell carcinoma, obesity, hypertension and tobacco smoking are risk factors, but they do not explain the geographical variation in its incidence. Underlying causes can be inferred by sequencing the genomes of cancers from populations with different incidence rates and detecting differences in patterns of somatic mutations.
View Article and Find Full Text PDFis commonly found in the environment and is often considered a blood culture contaminant. However, in patients with specific risk factors such as intravenous drug use, central venous access catheters, immunosuppression, or prosthetic valves, can cause severe infections. Herein, we present a case of prosthetic valve endocarditis (PVE) caused by in an 84-year-old woman with a history of aortic valve replacement for aortic stenosis five years earlier.
View Article and Find Full Text PDFLarge-scale biorepositories and databases are essential to generate equitable, effective, and sustainable advances in cancer prevention, early detection, cancer therapy, cancer care, and surveillance. The Mutographs project has created a large genomic dataset and biorepository of over 7,800 cancer cases from 30 countries across five continents with extensive demographic, lifestyle, environmental, and clinical information. Whole-genome sequencing is being finalized for over 4,000 cases, with the primary goal of understanding the causes of cancer at eight anatomic sites.
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