9 results match your criteria: "and Birmingham Women's Hospital[Affiliation]"
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
November 2021
From Genomics England (D.S., K.R.S., A.M., E.A.T., E.M.M., A.T., G.C., K.I., L.M., M. Wielscher, A.N., M. Bale, E.B., C.B., H.B., M. Bleda, A. Devereau, D.H., E. Haraldsdottir, Z.H., D.K., C. Patch, D.P., A.M., R. Sultana, M.R., A.L.T.T., C. Tregidgo, C. Turnbull, M. Welland, S. Wood, C.S., E.W., S.L., R.E.F., L.C.D., O.N., I.U.S.L., C.F.W., J.C., R.H.S., T.F., A.R., M.C.), the William Harvey Research Institute, Queen Mary University of London (D.S., K.R.S., V.C., A.T., L.M., M.R.B., D.K., S. Wood, P.C., J.O.J., T.F., M.C.), University College London (UCL) Institute of Ophthalmology (V.C., G.A., M.M., A.T.M., S. Malka, N.P., P.Y.-W.-M., A.R.W.), UCL Genetics Institute (V.C., N.W.W.), GOSgene (H.J.W.), Genetics and Genomic Medicine Programme (L.V., M.R., M.D., L.C., P. Beales, M.B.-G.), National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., S. Grunewald, S.C.-L., F.M., C. Pilkington, L.R.W., L.C., P. Beales, M.B.-G.), Infection, Immunity, and Inflammation Research and Teaching Department (P.A., L.R.W.), Stem Cells and Regenerative Medicine (N.T.), and Mitochondrial Research Group (S. Rahman), UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), the Department of Renal Medicine (D. Bockenhauer), and Institute of Cardiovascular Science (P.E.), UCL, Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., G.A., M.M., A.T.M., S. Malka, N.P., A.R.W.), the National Hospital for Neurology and Neurosurgery (J.V., E.O., J.Y., K. Newland, H.R.M., J.P., N.W.W., H.H.), the Metabolic Unit (L.A., S. Grunewald, S. Rahman), London Centre for Paediatric Endocrinology and Diabetes (M.D.), and the Department of Gastroenterology (N.T.), Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., D. Bockenhauer, A. Broomfield, M.A.C., T. Lam, E.F., V.G., S.C.-L., F.M., C. Pilkington, R. Quinlivan, C.W., L.R.W., A. Worth, L.C., P. Beales, M.B.-G., R.H.S.), the Clinical Genetics Department (M.R., T.B., C. Compton, C.D., E. Haque, L.I., D.J., S. Mohammed, L.R., S. Rose, D.R., G.S., A.C.S., F.F., M.I.) and St. John's Institute of Dermatology (H.F., R. Sarkany), Guy's and St. Thomas' NHS Foundation Trust, the Division of Genetics and Epidemiology, Institute of Cancer Research (C. Turnbull), Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care (T.B.), Division of Genetics and Molecular Medicine (M.A.S.), and Division of Medical and Molecular Genetics (M.I.), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), NHS England and NHS Improvement, Skipton House (V.D., A. Douglas, S. Hill), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), London, Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton (E.M.M.), the Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine, and Health, University of Manchester (J.M.E., S.B., J.C.-S., S.D., G.H., H.B.T., R.T.O., G. Black, W.N.), and the Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Z.H., S.B., J.C.-S., S.D., G.H., G. Black, W.N.), Manchester, the Department of Genetic and Genomic Medicine, Institute of Medical Genetics, Cardiff University, Cardiff (H.J.W.), the Department of Clinical Neurosciences (T.R., W.W., R.H., P.F.C.), the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., W.W., P.Y.-W.-M., P.F.C.), the Department of Paediatrics (T.R.), the Department of Haematology (K.S., C. Penkett, S. Gräf, R.M., W.H.O., A.R.), the School of Clinical Medicine (K.R., E.L., R.A.F., K.P., F.L.R.), the Department of Medicine (S. Gräf), and Cambridge Centre for Brain Repair, Department of Clinical Neurosciences (P.Y.-W.-M.), University of Cambridge, NIHR BioResource, Cambridge University Hospitals (K.S., S.A., R.J., C. Penkett, E.D., S. Gräf, R.M., M.K., J.R.B., P.F.C., W.H.O., F.L.R.), and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., P.T., O.S.-B., S. Halsall, K.P., A. Wagner, S.G.M., N.B., M.K.), Cambridge Biomedical Campus, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), Congenica (A.H., H.S.), Illumina Cambridge (A. Wolejko, B.H., G. Burns, S. Hunter, R.J.G., S.J.H., D. Bentley), NHS Blood and Transplant (W.H.O.), and Wellcome Sanger Institute (W.H.O.), Cambridge, the Health Economics Research Centre (J. Buchanan, S. Wordsworth) and the Wellcome Centre for Human Genetics (C. Camps, J.C.T.), University of Oxford, NIHR Oxford BRC (J. Buchanan, S. Wordsworth, J.D., C. Crichton, J.W., K.W., C. Camps, S.P., N.B.A.R., A.S., J.T., J.C.T.), the Oxford Centre for Genomic Medicine (A. de Burca, A.H.N.), and the Departments of Haematology (N.B.A.R.) and Neurology (A.S.), Oxford University Hospitals NHS Foundation Trust, Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, K.G., T. Lester, J.T.), the MRC Weatherall Institute of Molecular Medicine (N.K., N.B.A.R., A.O.M.W.) and the Oxford Epilepsy Research Group (A.S.), Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford, and the Department of Clinical Immunology (S.P.), John Radcliffe Hospital, Oxford, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., C.F.W.), Royal Devon and Exeter Hospital (S.E.), Exeter, Newcastle Eye Centre, Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., P. Brennan), Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University (G.S.G., R.H., A.M.S., D.M.T., R. Quinton, R.M., R.W.T., J.A.S.), Highly Specialised Mitochondrial Service (G.S.G., A.M.S., D.M.T., R.M., R.W.T.) and Northern Genetics Service (J. Burn), Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., D.M.T., J.A.S.), Newcastle upon Tyne, the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), Birmingham, the Genomic Informatics Group (E.G.S.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Southampton, Liverpool Women's NHS Foundation Trust, Liverpool (A. Douglas), the School of Cellular and Molecular Medicine, University of Bristol, Bristol (A.D.M.), and Yorkshire and Humber, Sheffield Children's Hospital, Sheffield (G.W.) - all in the United Kingdom; Fabric Genomics, Oakland (M. Babcock, M.G.R.), and the Ophthalmology Department, University of California, San Francisco School of Medicine, San Francisco (A.T.M.) - both in California; the Jackson Laboratory for Genomic Medicine, Farmington, CT (P.N.R.); and the Center for Genome Research and Biocomputing, Environmental and Molecular Toxicology, Oregon State University, Corvallis (M.H.).
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.
View Article and Find Full Text PDFGenettreating congenital adrenal hyperplasia.ic alterations associated with rare endocrine diseases disrupt the body's normal chemical communication system. Faulty genes can affect any part of the hormone pathway by altering the way the body recognises a hormone, or how a hormone acts on a target organ.
View Article and Find Full Text PDFReview of pulse oximetry screening for critical congenital heart defects in newborn infants.
Curr Opin Cardiol
March 2013
University of Birmingham and Birmingham Women's Hospital, Birmingham, UK.
Purpose Of Review: The concept of using pulse oximetry as a screening method to detect undiagnosed critical congenital heart defects (CCHD) in asymptomatic newborns was first explored over 10 years ago. A number of studies were subsequently reported, which initially involved relatively small numbers of patients, low prevalence of CCHD and heterogeneous methodology. As a consequence, the majority of clinicians felt the case for routine pulse oximetry screening had not been proven.
View Article and Find Full Text PDFAnaesthesia chapter from Saving mothers' lives; reviewing maternal deaths to make pregnancy safer.
Br J Anaesth
January 2008
University of Birmingham and Birmingham Women's Hospital, Birmingham, UK.
This chapter concerning maternal mortality due to anaesthesia, reprinted with permission from Saving Mothers' Lives, is the 18th in a series of reports within the Confidential Enquiries into Maternal and Child Health (CEMACH) in the UK. In the years 2003-05 there were six women who died from problems directly related to anaesthesia, which is the same as the 2000-02 triennium. Obesity was a factor in four of these women who died.
View Article and Find Full Text PDFA hierarchy of effective teaching and learning to acquire competence in evidenced-based medicine.
BMC Med Educ
December 2006
Division of Reproductive and Child Health, University of Birmingham, and Birmingham Women's Hospital, UK.
Background: A variety of methods exists for teaching and learning evidence-based medicine (EBM). However, there is much debate about the effectiveness of various EBM teaching and learning activities, resulting in a lack of consensus as to what methods constitute the best educational practice. There is a need for a clear hierarchy of educational activities to effectively impart and acquire competence in EBM skills.
View Article and Find Full Text PDFMaternal deaths from anaesthesia. An extract from Why Mothers Die 2000-2002, the Confidential Enquiries into Maternal Deaths in the United Kingdom: Chapter 9: Anaesthesia.
Br J Anaesth
April 2005
University of Birmingham and Birmingham Women's Hospital, Birmingham, UK, Royal Infirmary of Edinburgh, Edinburgh, UK.
This is the first of two extracts from Why Mothers Die 2000-2002, issued on 12 November 2004 by the Confidential enquiry into Maternal and Child Health (CEMACH), reproduced with permission. The full report can be accessed via their web site: http://www.cemach.
View Article and Find Full Text PDFPregnancy in women with Type 2 diabetes: 12 years outcome data 1990-2002.
Diabet Med
September 2003
Department of Medicine, Division of Medical Sciences, University of Birmingham and Birmingham Women's Hospital Trust, Birmingham, UK.
Aim: Twelve years' outcome analysis of pregnancies in women with Type 2 diabetes in a multiethnic geographically defined area.
Methods: Information about 182 women delivered between 1990 and 2002 was ascertained from a regional computerized database. The main outcome measures were rates of miscarriage, stillbirth, neonatal/postnatal deaths, congenital malformations, birth weight, mode of delivery, and neonatal unit care as well as maternal morbidities of polyhydramnios, postpartum haemorrhage, pregnancy-induced hypertension/pre-eclampsia.
Excessive volume expansion and neonatal death in preterm infants born at 27-28 weeks gestation.
Paediatr Perinat Epidemiol
April 2003
West Midlands Perinatal Institute, and Birmingham Women's Hospital, Birmingham, UK.
Volume expansion is used commonly in preterm infants to treat presumed hypovolaemia. However, the amount that should be given is uncertain. We present data that were obtained from anonymised regional case notes of Project 27/28, a national case-controlled study run by the Confidential Enquiry into Stillbirths and Deaths in Infancy.
View Article and Find Full Text PDFCytological prediction of cervical intraepithelial neoplasia grade 3: does size of the lesion matter?
J Low Genit Tract Dis
January 1998
*Academic Department of Obstetrics and Gynaecology, City Hospital NHS Trust †CRC Institute for Cancer Studies, Medical School, University of Birmingham ‡and Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Objective: Our objective was to test the hypothesis that accurate cytological prediction of cervical intraepithelial neoplasia grade 3 (CIN3) is related to the size of the atypical transformation zone.
Patients And Methods: Data on 340 women in whom CIN3 was diagnosed after large-loop excision of the transformation zone were recorded prospectively on a computerized database. These data were studied with regard to such variables as lesion size, age, parity, contraception use, and smoking status.