Institution
Aneurin Bevan University Health Board
Healthcare•Newport, United Kingdom•
About: Aneurin Bevan University Health Board is a healthcare organization based out in Newport, United Kingdom. It is known for research contribution in the topics: Population & Health care. The organization has 418 authors who have published 405 publications receiving 10638 citations. The organization is also known as: Aneurin Bevan Local Health Board & Aneurin Bevan University Local Health Board.
Papers
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National Institutes of Health1, Cardiff University2, VU University Amsterdam3, Erasmus University Rotterdam4, University of Manchester5, University College London6, University of Helsinki7, University of Oulu8, Johns Hopkins University9, Georgetown University10, Illumina11, University Hospital of Wales12, University of Eastern Finland13, University of Miami14, University of Turin15, University of Cagliari16, The Catholic University of America17, Microsoft18, University of Toronto19, University of Würzburg20, University of Washington21, Aneurin Bevan University Health Board22
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
3,784 citations
University of Oxford1, Federal University of São Paulo2, University of the Witwatersrand3, Stellenbosch University4, Liverpool School of Tropical Medicine5, University of Sheffield6, University of London7, Newcastle upon Tyne Hospitals NHS Foundation Trust8, University Hospital Southampton NHS Foundation Trust9, University Hospitals Bristol NHS Foundation Trust10, Guy's and St Thomas' NHS Foundation Trust11, University Hospitals Birmingham NHS Foundation Trust12, St George's, University of London13, AstraZeneca14, North Bristol NHS Trust15, University College Hospital16, University of Hull17, Escola Bahiana de Medicina e Saúde Pública18, Federal University of Rio Grande do Norte19, Northwest University (China)20, Universidade Federal de Santa Maria21, Glasgow Dental Hospital and School22, Boston Children's Hospital23, Universidade Federal do Rio Grande do Sul24, Western General Hospital25, University of Glasgow26, Cambridge University Hospitals NHS Foundation Trust27, University of Cambridge28, Nottingham University Hospitals NHS Trust29, Aneurin Bevan University Health Board30
TL;DR: ChAdOx1 nCoV-19 has an acceptable safety profile and has been found to be efficacious against symptomatic COVID-19 in this interim analysis of ongoing clinical trials.
3,741 citations
National Institutes of Health1, University College London2, Erasmus University Rotterdam3, VU University Amsterdam4, Cardiff University5, University of Manchester6, University of Turin7, University of Würzburg8, University of Sydney9, University of Birmingham10, University Hospitals Birmingham NHS Foundation Trust11, John Radcliffe Hospital12, The Catholic University of America13, University of Siena14, Lund University15, University of Cagliari16, Oulu University Hospital17, Helsinki University Central Hospital18, University of Pennsylvania19, Tel Aviv Sourasky Medical Center20, Memorial Hospital of South Bend21, Chang Gung University22, University of Tokyo23, Centre national de la recherche scientifique24, Pierre-and-Marie-Curie University25, French Institute of Health and Medical Research26, University of Sheffield27, Aneurin Bevan University Health Board28, University Hospital of Wales29, Johns Hopkins University30
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.
Abstract: Background
We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Methods
We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion.
Findings
In patients with sporadic ALS, we identified the repeat expansion in 236 (7·0%) of 3377 white individuals from the USA, Europe, and Australia, two (4·1%) of 49 black individuals from the USA, and six (8·3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39·3%) of 552 white individuals with familial ALS from Europe and the USA. 59 (6·0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24·8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic ALS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years.
Interpretation
A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.
Funding
Full funding sources listed at end of paper (see Acknowledgments).
951 citations
TL;DR: The ChAdOx1 nCoV-19 (AZD1222) vaccine has been approved for emergency use by the UK regulatory authority, Medicines and Healthcare products Regulatory Agency, with a regimen of two standard doses given with an interval of 4-12 weeks as discussed by the authors.
862 citations
University of Oxford1, Wellcome Trust Sanger Institute2, University of Cambridge3, Public Health England4, Liverpool School of Tropical Medicine5, University of Sheffield6, Newcastle University7, Newcastle upon Tyne Hospitals NHS Foundation Trust8, University of Southampton9, University Hospital Southampton NHS Foundation Trust10, University Hospitals Bristol NHS Foundation Trust11, St George's, University of London12, University College London13, Guy's and St Thomas' NHS Foundation Trust14, University Hospitals Birmingham NHS Foundation Trust15, University of Glasgow16, North Bristol NHS Trust17, University College Hospital18, University of Hull19, Northwest University (China)20, Glasgow Dental Hospital and School21, Western General Hospital22, University of Nottingham23, Nottingham University Hospitals NHS Trust24, AstraZeneca25, Cardiff University26, Aneurin Bevan University Health Board27
TL;DR: A post-hoc analysis of the efficacy of the adenoviral vector vaccine, ChAdOx1 nCoV-19 (AZD1222), against B.1.7, emerged as the dominant cause of COVID-19 disease in the UK from November, 2020 as discussed by the authors.
521 citations
Authors
Showing all 420 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Christopher Williams | 73 | 590 | 54807 |
| Huw R. Morris | 63 | 312 | 23001 |
| Alexander Vincent Anstey | 42 | 168 | 6705 |
| Ian Williamson | 36 | 82 | 5958 |
| Jonathan Hewitt | 27 | 98 | 2804 |
| Tamas Szakmany | 26 | 118 | 2348 |
| Christopher P. Twine | 22 | 93 | 1598 |
| Jacinta Tan | 19 | 38 | 1099 |
| Lakdasa Premawardhana | 19 | 62 | 1463 |
| Iljaz Hodzovic | 17 | 66 | 854 |
| David C. Bosanquet | 17 | 72 | 1077 |
| Natalie M. Stone | 16 | 55 | 807 |
| Cerith S. Waters | 16 | 27 | 1472 |
| Graeme K. Ambler | 15 | 66 | 936 |
| Katharine Harding | 15 | 47 | 1122 |