2,594 results match your criteria: "University of Cambridge School of Clinical Medicine.[Affiliation]"

Background: This study explored the prospective associations of genetic susceptibility to high blood pressure (BP) and muscle strength with cardiovascular disease (CVD) mortality, incident coronary heart disease (CHD) and incident stroke.

Methods: This study included 349 085 white British individuals from the UK Biobank study. Genetic risk of high BP was estimated using a weighted polygenic risk score that incorporated 136 and 135 nonoverlapping single-nucleotide polymorphisms for systolic BP and diastolic BP, respectively.

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Background: Ubiquitous car ownership may affect children's activity and health. We assessed the cross-sectional and longitudinal associations between household car ownership and children's daily time spent sedentary (SED) and in moderate to vigorous physical activity (MVPA).

Methods: Pooled cohort data were from the International Children's Accelerometry Database.

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Background: Outdoor, adventurous play supports physical activity and might help to prevent mental health problems, yet data on preschool-aged children's outdoor play are scarce.

Method: Data were collected from a nationally representative sample of 1166 parents/caregivers of children aged 2-4 years (52% male; 88% white) living in Britain. Caregivers reported time children spent playing in 7 locations and corresponding adventure level.

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Neurofibromatosis type 2 (NF-2) is a dominantly inherited genetic disorder that results from variants in the tumor suppressor gene, neurofibromin 2 (NF2). Here, we report the generation of a conditional zebrafish model of neurofibromatosis established by inducible genetic knockout of nf2a/b, the zebrafish homologs of human NF2. Analysis of nf2a and nf2b expression revealed ubiquitous expression of nf2b in the early embryo, with overlapping expression in the neural crest and its derivatives and in the cranial mesenchyme.

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Background: Several new treatments including small molecules and biologics have been approved for the treatment of inflammatory bowel diseases in recent years. Clinicians and patients now have a wide variety of therapeutic options to choose from and these novel therapies provide several advantages including oral administration, lower immunogenicity, better selectivity and arguably better safety profiles. An increase in treatment options has increased the complexity of decision-making.

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Background: Physical activity (PA) and diet quality have each been shown to be inversely associated with mortality but their combined impact on longevity has been less explored, particularly when considering their changes over time. This study aimed to examine the separate and combined associations of PA, diet quality and their changes over time with mortality outcomes.

Methods: A prospective cohort study was performed on 9349 adults aged 40 to 79 years from the population-based European Prospective Investigation into Cancer in Norfolk Study, with repeated measurements of PA and diet (from 1993 till 2004) and subsequent follow-up till 2022 (median follow-up 18.

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Article Synopsis
  • - Digital breast tomosynthesis (DBT), when used with a synthetic 2D mammogram (S2D), exposes women to higher radiation but may enhance cancer detection compared to full-field digital mammography (FFDM) alone.
  • - A review of 17 studies, including 13 for meta-analysis, found that DBT plus S2D provided a higher cancer detection rate compared to FFDM alone, while also showing similar accuracy to DBT with FFDM.
  • - The findings suggest that integrating S2D with DBT in breast cancer screening is effective and maintains the safety and performance of the imaging process.
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Objective: This study builds on prior findings that link increased availability of takeaway food outlets in home, workplace, and commuting environments to greater takeaway consumption and adiposity. Using longitudinal data, we examine associations of takeaway availability at baseline with changes in consumption and adiposity between baseline and follow-up.

Methods: We analyzed data from the Fenland Study, with baseline data from 2005 to 2015 and follow-up from 2015 to 2020.

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Article Synopsis
  • - Shwachman-Diamond syndrome is a complex disorder that involves both genetic and clinical variation, and this report focuses on a particularly severe case in an infant.
  • - The infant was found to have two specific EFL1 gene mutations (c.89A>G and c.2599A>G) that were inherited from each parent, contributing to the severity of the syndrome.
  • - Laboratory analyses of cells from the patient indicated that these mutations disrupted the production of functional ribosomes, which hindered protein synthesis and led to the critical health issues observed in this case.
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Silent severe aortic regurgitation due to blunt chest trauma: ignore it at your peril-a case report.

Eur Heart J Case Rep

October 2024

Department of Cardiology, Lister Hospital, East & North Hertfordshire NHS Trust, Coreys Mill Lane, Stevenage SG1 4AB, UK.

Background: Blunt chest trauma (BCT) presenting to the emergency department is common and may cause life-threatening cardiac complications. Whilst complications causing haemodynamic instability are generally detected promptly, others may present late with long-term consequences. We describe a rare, serious complication of BCT presenting five years after a road traffic accident (RTA).

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Recent advances in precision nutrition and cardiometabolic diseases.

Rev Esp Cardiol (Engl Ed)

September 2024

Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, United States; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.

Article Synopsis
  • - Recent research in nutrition omics has significantly advanced our understanding of cardiovascular disease epidemiology and prevention, particularly through the findings of the PREDIMED trial, which linked specific diet-related metabolites to cardiovascular health.
  • - Key metabolites associated with cardiovascular disease and type 2 diabetes include ceramides, acyl-carnitines, branched-chain amino acids, tryptophan, urea cycle byproducts, and various lipids.
  • - Future research aims to create detailed metabolomic scores for better risk prediction, include diverse populations with varied dietary habits, and focus on practical applications of precision nutrition in clinical settings.
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Raising the case of hepatitis E: Report from the 2nd international HEV symposium.

Vaccine

December 2024

Epidemiology, Public Health and Impact, International Vaccine Institute, Seoul, South Korea; Cambridge Institute of Therapeutic Immunology and Infectious Disease, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK; Heidelberg Institute of Global Health, University of Heidelberg, Heidelberg, Germany; Madagascar Institute for Vaccine Research, University of Antananarivo, Antananarivo, Madagascar.

The 2nd International Hepatitis E Virus Symposium was held on April 28 and 29, 2023, in London, UK. The conference was hosted by the International Vaccine Institute and brought together key clinicians, researchers, and private and public stakeholders for a dedicated forum on hepatitis E virus (HEV). The scientific program spanned multiple facets of HEV, from updates on clinical research and diagnostic advances to vaccine development.

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Background: Vaccine hesitancy has gained heightened relevance amid the COVID-19 pandemic, underscoring the urgency of understanding its determinants. This study explores the association between Covid-19 vaccine hesitancy, mental health variables and inflexible thinking.

Methods: A convenience sample of 252 UK adults was assessed online between June 2021-July 2022 (when Covid-19 lockdown restrictions had finally eased).

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Background Context: Low back pain (LBP) remains the leading cause of disability globally. In recent years, machine learning (ML) has emerged as a potentially useful tool to aid the diagnosis, management, and prognostication of LBP.

Purpose: In this review, we assess the scope of ML applications in the LBP literature and outline gaps and opportunities.

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Broad-capture proteomic platforms now enable simultaneous assessment of thousands of plasma proteins, but most of these are not actively secreted and their origins are largely unknown. Here we integrate genomic with deep phenomic information to identify modifiable and non-modifiable factors associated with 4,775 plasma proteins in ~8,000 mostly healthy individuals. We create a data-driven map of biological influences on the human plasma proteome and demonstrate segregation of proteins into clusters based on major explanatory factors.

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Article Synopsis
  • Researchers aim to better understand the protein-coding genome due to its importance in human health, while questioning what previous genomic studies may have overlooked regarding non-canonical open reading frames (ncORFs).
  • Over the last ten years, ncORFs have shown potential relevance in human cell types and diseases, but their impact on the human proteome was previously unclear, prompting a collaborative effort to analyze their protein-level evidence.
  • The study found that 25% of analyzed ncORFs contribute to translated proteins, resulting in over 3,000 new peptides from extensive mass spectrometry data, and established an annotation framework and public tools to support ongoing research in this area.
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Objective: Reports of hyperinsulinism typically focus on infants managed by highly specialised services. However, neonates with hyperinsulinism are initially managed by neonatologists and often not referred to specialists. This study aimed to characterise the diversity in presentation and management of these infants.

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Article Synopsis
  • Pathogenic variants in the RAD51C gene increase the risk for breast and ovarian cancer, and certain homozygous variants can lead to Fanconi anemia.
  • Researchers used saturation genome editing to analyze a large number of genetic variants, identifying 3,094 as disruptive, with high accuracy in variant classification.
  • The study found significant links between specific variants depleted via genome editing and cancer diagnoses, contributing to a better understanding of RAD51C's role in cancer susceptibility.
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Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Wellcome Open Res

October 2023

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

Article Synopsis
  • Genome-wide association studies have found numerous genetic loci linked to glycemic traits, but connecting these loci to specific genes and biological pathways remains a challenge.
  • Researchers conducted meta-analyses of exome-array studies across four glycemic traits, analyzing data from over 144,000 participants, which led to the identification of coding variant associations in more than 60 genes.
  • The study revealed significant pathways related to insulin secretion, zinc transport, and fatty acid metabolism, enhancing understanding of glycemic regulation and making data available for further research.
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The use of monoclonal antibodies for the control of drug resistant nosocomial bacteria may alleviate a reliance on broad spectrum antimicrobials for treatment of infection. We identify monoclonal antibodies that may prevent infection caused by carbapenem resistant Acinetobacter baumannii. We use human immune repertoire mice (Kymouse platform mice) as a surrogate for human B cell interrogation to establish an unbiased strategy to probe the antibody-accessible target landscape of clinically relevant A.

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Perceived Discrimination Among Food Pantry Clients in Massachusetts.

Prev Chronic Dis

September 2024

Division of General Academic Pediatrics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts.

Introduction: Food insecurity is defined as inconsistent access to enough food to meet nutritional needs. Discrimination is associated with food insecurity and poor health, especially among racial and ethnic minoritized and sexual or gender minoritized groups. We examined the demographic associations of perceived everyday discrimination and food pantry discrimination in Massachusetts.

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