11,606 results match your criteria: "National Institute for Health Research[Affiliation]"

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.

Nat Genet

December 2024

Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC location, University of Amsterdam, Amsterdam, the Netherlands.

Article Synopsis
  • * A large study involving nearly 10,000 DCM cases and close to a million controls identified 70 significant genetic locations linked to the disease, revealing the importance of heart muscle cells in its development.
  • * The research also indicates that factors like higher body weight and blood pressure may contribute to DCM, and genetic risk scores can help predict the condition across different populations.
View Article and Find Full Text PDF
Article Synopsis
  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
  • Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
  • The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
View Article and Find Full Text PDF

Background: Patients with symptomatic knee osteoarthritis may undergo non-surgical interventions such as intra-articular steroid injections and knee arthroscopy. This study aimed to investigate their association with the timing and outcomes of subsequent primary knee replacement.

Methods And Findings: Observational retrospective analysis of linked Clinical Practice Research Datalink, Hospital Episode Statistics, Patient Reported Outcome Measures (CPRD GOLD-HES-PROMS) data of 38,494 patients undergoing primary knee replacements in England.

View Article and Find Full Text PDF
Article Synopsis
  • This study examines the effects of sanctions on population health and the healthcare system in Iran over the past two decades, focusing on both quantitative indicators and qualitative insights from patients and policymakers.
  • It employs a mixed-methods approach, analyzing 28 health and economic indicators from 2000 to 2020, which revealed that some health indicators worsened after 2009, particularly regarding healthcare costs and chronic disease mortality.
  • Although no strong evidence directly links sanctions to significant changes in overall population health, qualitative findings highlight key challenges, such as medication availability and healthcare quality, significantly impacted by sanctions as perceived by both patients and health policymakers.
View Article and Find Full Text PDF

The gastrointestinal tract is a multi-organ system crucial for efficient nutrient uptake and barrier immunity. Advances in genomics and a surge in gastrointestinal diseases has fuelled efforts to catalogue cells constituting gastrointestinal tissues in health and disease. Here we present systematic integration of 25 single-cell RNA sequencing datasets spanning the entire healthy gastrointestinal tract in development and in adulthood.

View Article and Find Full Text PDF
Article Synopsis
  • Cardiac trabeculae are muscular structures in the heart that have a crucial but not fully understood role in heart function and disease.
  • A study involving over 47,000 participants from the UK Biobank found links between trabecular shape and rare genetic variants in 56 genes related to heart muscle function and development.
  • The research also revealed 68 genetic regions associated with heart condition pathways, indicating that variations in trabeculation may influence the severity of heart diseases like hypertrophic and dilated cardiomyopathy.
View Article and Find Full Text PDF

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

J Exp Med

January 2025

Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London, London, UK.

The importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry (SOCE) resulting in combined immunodeficiency (CID). We report five unrelated patients with de novo missense variants in ITPR3, encoding a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel in the endoplasmic reticulum (ER) membrane responsible for the release of ER Ca2+ required to trigger SOCE, and for Ca2+ transfer to other organelles. The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease.

View Article and Find Full Text PDF

Predicting individual patient and hospital-level discharge using machine learning.

Commun Med (Lond)

November 2024

Big Data Institute, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

Background: Accurately predicting hospital discharge events could help improve patient flow and the efficiency of healthcare delivery. However, using machine learning and diverse electronic health record (EHR) data for this task remains incompletely explored.

Methods: We used EHR data from February-2017 to January-2020 from Oxfordshire, UK to predict hospital discharges in the next 24 h.

View Article and Find Full Text PDF

Background And Purpose:  National joint replacement registries were developed for prospective monitoring of outcomes and post-market surveillance of implants. Increasingly registry data informs practice. However, analysis of a registry can only be as good as the data it captures on the population of interest.

View Article and Find Full Text PDF

Background: Female childhood cancer survivors with history of bone marrow transplant with or without total body irradiation have increased pregnancy risks. Preconception counselling and early referral to appropriate clinical pathways may improve pregnancy outcomes.

Methods: UK-wide survey of clinicians, promoted via social media and conferences, jointly funded by Action Medical Research/Borne.

View Article and Find Full Text PDF

Whilst SARS-CoV-2 mRNA vaccines generate high neutralising antibodies (nAb) in most individuals, haematopoietic stem cell transplant (HSCT) and chimeric antigen receptor T-cell (CAR-T) recipients respond poorly. HSCT/CAR-T treatment ablates existing immune memory, with recipients requiring revaccination analogous to being vaccine naive. An optimal revaccination strategy for this cohort has not been defined.

View Article and Find Full Text PDF

Antiviral therapy for cytomegalovirus retinitis: A systematic review and meta-analysis.

Surv Ophthalmol

November 2024

Programme for Ocular Inflammation & Infection Translational Research, National Healthcare Group, Singapore, Singapore; Department of Bioinformatics, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; National Institute for Health Research Biomedical Research Centre, Moorfields Eye Hospital, UK; UCL-Institute of Ophthalmology, UK; National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore; Duke NUS Medical School, Singapore; Singapore Eye Research Institute, Singapore.

Article Synopsis
  • Cytomegalovirus retinitis (CMVR) is a major cause of blindness in advanced AIDS patients, with varied treatment approaches due to the lack of established guidelines.
  • A review of 59 studies revealed an 18% improvement in visual acuity and a 90% rate of inflammation resolution, with ganciclovir being the most commonly used antiviral treatment.
  • Notably, patients on antiretroviral therapy (ART) had a significantly lower recurrence rate of inflammation compared to those not on ART, and the most common side effect reported was neutropenia related to ganciclovir.
View Article and Find Full Text PDF

Revascularization in frail patients with acute coronary syndromes: a retrospective longitudinal study.

Eur Heart J

November 2024

Department of Cardiovascular Sciences and National Institute for Health Research Leicester Biomedical Research Unit in Cardiovascular Medicine, University of Leicester, Groby Road, Leicester LE3 9QP, UK.

Background And Aims: Frailty is increasingly prevalent in people presenting with acute coronary syndrome (ACS). This high-risk group is typically excluded from trials of interventions in ACS, and there is uncertainty about the risks and benefits of invasive management.

Methods: Patients with an ACS diagnosis between 2010 and 2015 in England were identified from Hospital Episode Statistics, with linked Office for National Statistics mortality data.

View Article and Find Full Text PDF

To halt disease progression rehabilitation in MS should start early: No.

Mult Scler

November 2024

NMR Research Unit, Queen Square MS Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK.

View Article and Find Full Text PDF

Restoration of Corneal Stiffness in Rabbits Following Withdrawal of Travoprost.

Invest Ophthalmol Vis Sci

November 2024

National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, China.

Article Synopsis
  • The study aimed to assess whether the effects of travoprost on corneal stiffness could revert after stopping the medication in rabbits.
  • In the experiment, rabbits were divided into three groups: treated with travoprost, those who had the drug withdrawn, and a blank control group, with various mechanical tests conducted on their corneas.
  • Results showed that while travoprost decreased corneal thickness and stiffness during treatment, the corneal properties of the drug withdrawal group appeared to recover after 12 weeks, resembling those of the control group.
View Article and Find Full Text PDF
Article Synopsis
  • This study explored how early gestational glucose levels, measured by continuous glucose monitoring (CGM), relate to the later development of insulin resistance (IR) and gestational diabetes mellitus (GDM) in pregnant women.
  • In a cohort of 167 pregnant women, 25% were found to have IR and 18% developed GDM, with higher early glucose levels and variability in glucose readings linked to increased risk of both conditions.
  • Results indicated that women with suboptimal glycemic control showed higher mean daily glucose and variability, which correlated with a significantly greater risk of developing IR and GDM as pregnancy progressed.
View Article and Find Full Text PDF
Article Synopsis
  • A study analyzed the link between different levels of food processing and the risk of developing type 2 diabetes, using data from the EPIC cohort involving nearly 312,000 participants over about 11 years.
  • The results showed that higher intake of ultra-processed foods (UPF) was significantly associated with an increased risk of type 2 diabetes, while unprocessed/minimally processed foods and processed foods were linked to a lower risk.
  • Sub-group analysis revealed specific types of UPF, like certain breads and plant-based alternatives, that, surprisingly, were associated with a reduced risk of developing type 2 diabetes.
View Article and Find Full Text PDF

Background: Enhancing efficiency is crucial in addressing the escalating scarcity of healthcare resources. It plays a pivotal role in achieving Universal Health Coverage (UHC), with the ultimate goal of ensuring health equity for all. A fundamental strategy to bolster efficiency involves pinpointing the underlying causes of inefficiency within the healthcare system through empirical research.

View Article and Find Full Text PDF

A global survey of telemedicine use in epilepsy care - practices before, during and after the COVID-19 pandemic.

Seizure

December 2024

Programme of Developmental Neurosciences, University College London National Institute for Health Research Biomedical Research Centre Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children, and Young Epilepsy Lingfield, London, UK.

Article Synopsis
  • Telemedicine became a popular option for epilepsy care during the COVID-19 pandemic, offering effective and quality care beyond just preventing virus transmission.
  • A survey conducted from June to October 2023 gathered responses from 285 participants across 60 countries, showing a significant rise in telemedicine usage during the pandemic but a decrease afterward, especially in terms of reimbursement and regulations.
  • While telemedicine usage and acceptance have improved, issues like reimbursement, regulations, and patient privacy need to be addressed for better implementation in the future.
View Article and Find Full Text PDF

Microcosting genomics: Challenges and opportunities.

Genet Med

November 2024

Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Melbourne, VIC, Australia; Murdoch Children's Research Institute, VIC, Australia; Institute of Health Policy, Management and Evaluation, The University of Toronto, Toronto, ON, Canada. Electronic address:

View Article and Find Full Text PDF

A practice changing paper: biallelic inactivation of BRCA2 in Fanconi anaemia.

BJC Rep

April 2024

Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.

View Article and Find Full Text PDF
Article Synopsis
  • NICE recommends additional breast screening and interventions for women in England at above-population risk for breast cancer.
  • A review of GP referrals showed up to 20% of women lacked sufficient information for risk assessment, with over 25% assessed as near-population risk.
  • Many women may miss out on preventative measures due to current systemic issues, highlighting the need for better data collection and risk assessment processes to address health inequalities.
View Article and Find Full Text PDF

Reply - "Letter to the Editor-Very-low calorie diet and Semaglutide: Synergy and long-term impact on type 2 diabetes management".

Clin Nutr

December 2024

MRC/ARUK Centre for Musculoskeletal Ageing Research and National Institute for Health Research (NIHR), Nottingham Biomedical Research Centre (BRC), School of Medicine, University of Nottingham, Derby, DE22 3DT, UK; Department of Endocrinology and Diabetes, University Hospitals Derby and Burton NHS Foundation Trust, Derby, DE22 3NE, UK. Electronic address:

View Article and Find Full Text PDF

Background: Human papillomavirus (HPV) vaccination has been offered in over a hundred countries worldwide (including the United Kingdom, since September 2008). Controversy around adverse effects persists, with inconsistent evidence from follow-up of randomized controlled trials and confounding by indication limiting the conclusions drawn from larger-scale observational studies. This study aims to estimate the association between receiving a quadrivalent HPV vaccine and the reporting of short-term adverse effects and to demonstrate the utility of regression discontinuity design for examining side effects in routine data.

View Article and Find Full Text PDF