Now showing items 21-40 of 2953

    • Adalimumab and infliximab impair SARS-CoV-2 antibody responses: results from a therapeutic drug monitoring study in 11422 biologic-treated patients 

      Chanchlani, N.; Lin, S.; Chee, D.; Hamilton, B.; Nice, R.; Zehra, A.; Bewshea, C.; Cipriano, B.; Derikx, Laap; Dunlop, A.; Greathead, L.; Griffiths, R. L.; Ibraheim, H.; Kelleher, P.; Kok, K. B.; Lees, C. W.; MacDonald, J.; Sebastian, S.; Smith, P. J.; McDonald, T. J.; Irving, P. M.; Powell, N.; Kennedy, N. A.; Goodhand, J. R.; Ahmad, T. (Oxford University Press, 2021-09-02)
      BACKGROUND AND AIMS: Infliximab attenuates serological responses to SARS-CoV-2 infection. Whether this is a class effect, or if anti-TNF level influences serological responses, remains unknown. METHODS: Seroprevalence and ...
    • De novo missense variants in FBXO11 alter its protein expression and subcellular localization 

      Gregor, A.; Meerbrei, T.; Gerstner, T.; Toutain, A.; Lynch, S. A.; Stals, K.; Maxton, C.; Lemke, J. R.; Bernat, J. A.; Bombei, H. M.; Foulds, N.; Hunt, D.; Kuechler, A.; Beygo, J.; Stöbe, P.; Bouman, A.; Palomares-Bralo, M.; Santos-Simarro, F.; Garcia-Minaur, S.; Pacio-Miguez, M.; Popp, B.; Vasileiou, G.; Hebebrand, M.; Reis, A.; Schuhmann, S.; Krumbiegel, M.; Brown, N. J.; Sparber, P.; Melikyan, L.; Bessonova, L.; Cherevatova, T.; Sharkov, A.; Shcherbakova, N.; Dabir, T.; Kini, U.; Schwaibold, E. M. C.; Haack, T. B.; Bertoli, M.; Hoffjan, S.; Falb, R.; Shinawi, M.; Sticht, H.; Zweier, C. (Oxford University Press, 2021-09-09)
      Recently, we and others identified de novo FBXO11 variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic ...
    • Setting standards for cystectomy using the British Association of Urological Surgeons Complex Operations Reports, 2016–2018 

      John, Joseph B; Pascoe, John; Fowler, Sarah; Rowe, Edward; Colquhoun, Alexandra; Challacombe, Benjamin; Bufacchi, Rory; Dickinson, Andrew J; McGrath, John S (Sage, 2021-07-13)
      Objective:To produce comprehensive standards for cystectomy using contemporary data collected across a nation.Patients and methods:Surgical departments upload cystectomy data to the British Association of Urological Surgeons ...
    • Extreme longevity variants at the FOXO3 locus may moderate FOXO3 isoform levels 

      Frankum, R.; Jameson, T. S. O.; Knight, B. A.; Stephens, F. B.; Wall, B. T.; Donlon, T. A.; Torigoe, T.; Willcox, B. J.; Willcox, D. C.; Allsopp, R. C.; Harries, L. W. (Springer, 2021-08-26)
      The rs2802292, rs2764264 and rs13217795 variants of FOXO3 have been associated with extreme longevity in multiple human populations, but the mechanisms underpinning this remain unclear. We aimed to characterise potential ...
    • PTPN4 germline variants result in aberrant neurodevelopment and growth 

      Chmielewska, J. J.; Burkardt, D.; Granadillo, J. L.; Slaugh, R.; Morgan, S.; Rotenberg, J.; Keren, B.; Mignot, C.; Escobar, L.; Turnpenny, P.; Zuteck, M.; Seaver, L. H.; Ploski, R.; Dziembowska, M.; Wynshaw-Boris, A.; Adegbola, A. (Cell Press, 2021-07-08)
      Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been ...
    • Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases 

      Şıklar, Z.; Kontbay, T.; Colclough, K.; Patel, K. A.; Berberoğlu, M. (Galenos, 2021-08-18)
      The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and ...
    • Expanded phenotype of AARS1-related white matter disease 

      Helman, G.; Mendes, M. I.; Nicita, F.; Darbelli, L.; Sherbini, O.; Moore, T.; Derksen, A.; Amy, Pizzino; Carrozzo, R.; Torraco, A.; Catteruccia, M.; Aiello, C.; Goffrini, P.; Figuccia, S.; Smith, D. E. C.; Hadzsiev, K.; Hahn, A.; Biskup, S.; Brösse, I.; Kotzaeridou, U.; Gauck, D.; Grebe, T. A.; Elmslie, F.; Stals, K.; Gupta, R.; Bertini, E.; Thiffault, I.; Taft, R. J.; Schiffmann, R.; Brandl, U.; Haack, T. B.; Salomons, G. S.; Simons, C.; Bernard, G.; van der Knaap, M. S.; Vanderver, A.; Husain, R. A. (Nature, 2021-08-27)
      PURPOSE: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic ...
    • PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families 

      Guimier, A.; Achleitner, M. T.; de Bellaing, A. M.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K. E.; Grove, M. E.; Tysoe, C. J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C. L.; Knowles, C. V.; Brett, L.; Till, J. A.; Homfray, T.; French, P.; Spentzou, G.; Elserafy, N. A.; Lichkus, K. S.; Sankaran, B. P.; Kennedy, H. L.; George, P. M.; Kidd, A.; Wortmann, S. B.; Fisk, D. G.; Koopmann, T. T.; Rafiq, M. A.; Merker, J. D.; Parikh, S.; Ahimaz, P.; Weintraub, R. G.; Ma, A. S.; Turner, C.; Ellaway, C. J.; Phillips, L. K.; Thorburn, D. R.; Chung, W. K.; Kana, S. L.; Faye-Petersen, O. M.; Thompson, M. L.; Janin, A.; McLeod, K.; McGowan, R.; McFarland, R.; Girisha, K. M.; Morris-Rosendahl, D. J.; Hurst, A. C. E.; Turner, C. L. S.; Hamilton, R. M.; Taylor, R. W.; Bajolle, F.; Gordon, C. T.; Amiel, J.; Mayr, J. A.; Doudney, K. (Nature, 2021-08-16)
      PURPOSE: Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by ...
    • Blood pressure, frailty and dementia 

      Masoli, J. A. H.; Delgado, J. (Elsevier, 2021-09-16)
      High blood pressure (BP) affects 75% of people aged over 70. Ageing alters BP homeostasis, resulting in postural hypotension and increased BP variability. Co-morbidity and frailty add complexity to understanding BP changes ...
    • Where did all the retinal detachments go? Gathering insights into who did not attend during the first peak of COVID-19 

      Ramsden, C. M.; Ozturk, M.; Mehat, M.; Brennan, N.; Wickham, L. (Nature, 2021-08-06)
    • The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy 

      Bartalena, L.; Kahaly, G. J.; Baldeschi, L.; Dayan, C. M.; Eckstein, A.; Marcocci, C.; Marinò, M.; Vaidya, B.; Wiersinga, W. M. (BioScientifica, 2021-08-27)
      Graves' orbitopathy (GO) is the main extrathyroidal manifestation of Graves' disease (GD). Choice of treatment should be based on the assessment of clinical activity and severity of GO. Early referral to specialized centers ...
    • Zinc transporter 8 autoantibody testing requires age-related cut-offs 

      Grace, S. L.; Cooper, A.; Jones, A. G.; McDonald, T. J. (BMJ, 2021-08-01)
      INTRODUCTION: Zinc transporter 8 autoantibodies (ZnT8A) are biomarkers of beta cell autoimmunity in type 1 diabetes that have become more widely available to clinicians in recent years. Robust control population-defined ...
    • Scope, context and quality of telerehabilitation guidelines for physical disabilities: a scoping review 

      Anil, K.; Freeman, J. A.; Buckingham, S.; Demain, S.; Gunn, H.; Jones, R. B.; Logan, A.; Marsden, J.; Playford, D.; Sein, K.; Kent, B. (BMJ, 2021-08-12)
      OBJECTIVE: To identify the available guidance and training to implement telerehabilitation movement assessments for people (adults and children) with a physical disability, including those recovering from COVID-19. DESIGN: ...
    • Use of prophylactic mesh during initial stoma creation to prevent parastomal herniation: a systematic review and meta-analysis of randomised controlled trials 

      Mohiuddin, S.; Hollingworth, W.; Rajaretnam, N.; Reeves, B. C.; Smart, N. J. (Wiley, 2021-07-31)
      AIM: Parastomal hernia (PSH) is a common complication following stoma creation. Previous reviews found mesh reinforcement during initial stoma creation beneficial in reducing PSH incidence. Since then, several multicentre ...
    • A semi-Markov model comparing the lifetime cost-effectiveness of mesh prophylaxis to prevent parastomal hernia in patients undergoing end colostomy creation for rectal cancer 

      Mohiuddin, S.; Reeves, B. C.; Smart, N. J.; Hollingworth, W. (Wiley, 2021-07-31)
      AIM: Parastomal hernia (PSH) is a common problem following colostomy. Using prophylactic mesh during end colostomy creation may reduce PSH incidence, but concerns exist regarding the optimal type of mesh, potential long-term ...
    • Corneal perforation due to vitamin A deficiency in a patient with short bowel syndrome 

      Fieldhouse, H.; Nestel, A.; Theron, B.; Knox Cartwright, N. (BMJ, 2021-09-12)
      A 55-year-old Caucasian woman presented with a 1-week history of left eye redness and blurred vision. Her medical history included previous small bowel resection and ileostomy for ischaemic bowel. Ophthalmic examination ...
    • Patient perspectives on surveillance after head and neck cancer treatment: A systematic review 

      McLaren, O.; Perkins, C.; Zhu, Y.; Smith, M.; Williams, R. (Wiley, 2021-08-07)
      OBJECTIVES: Current guidelines advise post-treatment surveillance of head and neck cancer (HNC) patients should involve scheduled appointments with a variety of practitioners. Increasing numbers of HNC survivors raise the ...
    • Low serum 1,25(OH)2D3 in end stage renal disease - is reduced 1α-hydroxylase the only problem? 

      Huish, S. A.; Jenkinson, C.; Dunn, J. A.; Meredith, D. J.; Bland, R.; Hewison, M. (BioScientifica, 2021-09-01)
      Low serum 1,25-dihydroxyvitamin D (1,25(OH)2D) in end stage renal disease (ESRD) is considered a consequence of elevated fibroblast growth factor 23 (FGF23) and concomitant reduced activity of renal 1α-hydroxylase (CYP27B1). ...
    • The impact of changing risk thresholds on the number of people in England eligible for urgent investigation for possible cancer: an observational cross-sectional study 

      Moore, S. F.; Price, S. J.; Chowienczyk, S.; Bostock, J.; Hamilton, W. (Nature, 2021-09-16)
      BACKGROUND: Expediting cancer diagnosis may be achieved by targeted decreases in referral thresholds to increase numbers of patients referred for urgent investigation. METHODS: Clinical Practice Research Datalink data from ...
    • Phytoestrogens: Role in urogenital atrophy, urinary disorders and sexual function 

      Iavazzo, C.; Gkegkes, I. D. (Elsevier, 2021-09-01)