Institution
Leicester Royal Infirmary
Healthcare•Leicester, United Kingdom•
About: Leicester Royal Infirmary is a healthcare organization based out in Leicester, United Kingdom. It is known for research contribution in the topics: Population & Carotid endarterectomy. The organization has 5300 authors who have published 6204 publications receiving 208464 citations.
Papers published on a yearly basis
Papers
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TL;DR: It is estimated that the potential gain of the GDS(15) in primary care to be 8% over unassisted clinical detection but at a cost of 3-4 minutes of extra time per appointment, while the G DS(30) is recommended but not in the diagnosis of late-life depression inPrimary care.
212 citations
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Radboud University Nijmegen1, Duke University2, GeneDx3, University of Southampton4, University of Antwerp5, University of Washington6, Howard Hughes Medical Institute7, Katholieke Universiteit Leuven8, Maastricht University Medical Centre9, University of Adelaide10, Max Planck Society11, University of Calgary12, University of Groningen13, Dresden University of Technology14, St George's, University of London15, Boston Children's Hospital16, Newcastle upon Tyne Hospitals NHS Foundation Trust17, Leicester Royal Infirmary18, University of Oxford19, University of Bristol20, St Mary's Hospital21, University College London22, Utrecht University23, Cleveland Clinic24, Franklin & Marshall College25, Children's Memorial Hospital26, University of California, San Francisco27, Greater Baltimore Medical Center28, University of Pennsylvania29, University of Rochester30, Columbia University31
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
Abstract: Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common causes of ID, accounting for 1%–3% of unexplained ID in females. Although no de novo DDX3X mutations were identified in males, we present three families with segregating missense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern. In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. To explore the pathogenic mechanisms accounting for the differences in disease transmission and phenotype between affected females and affected males with DDX3X missense variants, we used canonical Wnt defects in zebrafish as a surrogate measure of DDX3X function in vivo. We demonstrate a consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway, and we further show a differential effect by gender. The differential activity possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDX3X mutations.
212 citations
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TL;DR: Carotid patch angioplasty decreases the risk for perioperatively death or stroke, and long-term risk for ipsilateral ischemic stroke; more data are required to establish differences between various patch materials.
209 citations
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TL;DR: Clinical aspects of tolerance and the associated phenomena of dependence, withdrawal and addiction to opioids as they apply to the practice of clinicians who manage patients with chronic malignant and non-malignant pain are discussed.
Abstract: Uncertainty about the clinical significance of tolerance to opioid analgesia has important and diverse implications. Although understanding of the characteristics and mechanisms of experimental tolerance has grown, the clinical correlates and ramifications of these findings remain ambiguous to practitioners prescribing long-term opioid therapy to patients for the treatment of malignant and non-malignant pain. In this review I shall discuss clinical aspects of tolerance and the associated phenomena of dependence, withdrawal and addiction to opioids as they apply to the practice of clinicians who manage patients with chronic malignant and non-malignant pain.
209 citations
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University of New South Wales1, Veterans Health Administration2, University of Pennsylvania3, University of Zagreb4, Kurume University5, University of North Carolina at Chapel Hill6, University at Buffalo7, Tehran University of Medical Sciences8, University of Marburg9, University Medical Center Groningen10, Rabin Medical Center11, University Hospital of Bern12, Yonsei University13, Keio University14, Mayo Clinic15, Cairo University16, Icahn School of Medicine at Mount Sinai17, University of Utah18, Mercy Health19, Hokkaido University20, Medical University of Warsaw21, Akdeniz University22, Reims University23, Emory University24, Duke University25, Paracelsus Private Medical University of Salzburg26, Aristotle University of Thessaloniki27, Masaryk University28, Clínica Alemana29, Karadeniz Technical University30, University of Lübeck31, University of São Paulo32, University of California, Irvine33, Sheba Medical Center34, University of Parma35, University of Barcelona36, St. John's University37, Leicester Royal Infirmary38, Stanford University39, United States Department of Veterans Affairs40, University of California, Davis41
TL;DR: Recommendations from a subsequent Delphi consensus to broaden the generalizability of recommendations includes intravenous CD20 inhibitors as a first line therapy option for moderate to severe pemphigus.
Abstract: Background Several European countries recently developed international diagnostic and management guidelines for pemphigus, which have been instrumental in the standardization of pemphigus management. Objective We now present results from a subsequent Delphi consensus to broaden the generalizability of the recommendations. Methods A preliminary survey, based on the European Dermatology Forum and the European Academy of Dermatology and Venereology guidelines, was sent to a panel of international experts to determine the level of consensus. The results were discussed at the International Bullous Diseases Consensus Group in March 2016 during the annual American Academy of Dermatology conference. Following the meeting, a second survey was sent to more experts to achieve greater international consensus. Results The 39 experts participated in the first round of the Delphi survey, and 54 experts from 21 countries completed the second round. The number of statements in the survey was reduced from 175 topics in Delphi I to 24 topics in Delphi II on the basis of Delphi results and meeting discussion. Limitations Each recommendation represents the majority opinion and therefore may not reflect all possible treatment options available. Conclusions We present here the recommendations resulting from this Delphi process. This international consensus includes intravenous CD20 inhibitors as a first-line therapy option for moderate-to-severe pemphigus.
207 citations
Authors
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Name | H-index | Papers | Citations |
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George Davey Smith | 224 | 2540 | 248373 |
Nilesh J. Samani | 149 | 779 | 113545 |
Peter M. Rothwell | 134 | 779 | 67382 |
John F. Thompson | 132 | 1420 | 95894 |
James A. Russell | 124 | 1024 | 87929 |
Paul Bebbington | 119 | 583 | 46341 |
John P. Neoptolemos | 112 | 648 | 52928 |
Richard C. Trembath | 107 | 368 | 41128 |
Andrew J. Wardlaw | 92 | 311 | 33721 |
Melanie J. Davies | 89 | 814 | 36939 |
Philip Quirke | 89 | 378 | 34071 |
Kenneth J. O'Byrne | 87 | 629 | 39193 |
David R. Jones | 87 | 707 | 40501 |
Keith R. Abrams | 86 | 355 | 30980 |
Martin J. S. Dyer | 85 | 373 | 24909 |