Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Autor: Beyltjens T; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Boudin E; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc and University of Louvain, Brussels, Belgium., Boeckx N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Weber A; Institute of Human Genetics, Justus Liebig University, Giessen, Germany., Biliouri E; Institute of Human Genetics, Justus Liebig University, Giessen, Germany., Vinkšel M; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana Division of Internal Medicine, Ljubljana, Slovenia., Zagožen A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana Division of Internal Medicine, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana Division of Internal Medicine, Ljubljana, Slovenia., Pai S; Children's Health, Division of Genetics, Medical University of South Carolina, Charleston, South Carolina, USA., Telegrafi A; GeneDx Inc, Gaithersburg, Massachusetts, USA., Henderson LB; GeneDx Inc, Gaithersburg, Massachusetts, USA., Ells C; Provincial Medical Genetics Program, Eastern Health, St. John's, Newfoundland, Canada., Turner L; Provincial Medical Genetics Program, Eastern Health, St. John's, Newfoundland, Canada.; Memorial University of Newfoundland, St. John's, Newfoundland, Canada., Wuyts W; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Van Hul W; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Hendrickx G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium gretl.hendrickx@kuleuven.be.; Department of Human Genetics, KU Leuven, Leuven, Belgium., Mortier GR; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 May; Vol. 60 (5), pp. 498-504. Date of Electronic Publication: 2022 Oct 14.

Roadside screening tests for cannabis use: A systematic review.

Autor: Wennberg E; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Windle SB; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada., Filion KB; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada.; Department of Medicine, McGill University, Montreal, QC, Canada., Thombs BD; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada.; Department of Medicine, McGill University, Montreal, QC, Canada.; Departments of Psychiatry, Psychology, and Counselling and Educational Psychology, McGill University, Montreal, QC, Canada.; Biomedical Ethics Unit, McGill University, Montreal, QC, Canada., Gore G; Schulich Library of Science and Engineering, McGill University, Montreal, Quebec, Canada., Benedetti A; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada.; Department of Medicine, McGill University, Montreal, QC, Canada.; Respiratory Epidemiology and Clinical Research Unit, Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Grad R; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Family Medicine, McGill University, Montreal, QC, Canada., Ells C; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Medicine, McGill University, Montreal, QC, Canada.; Biomedical Ethics Unit, McGill University, Montreal, QC, Canada.; Department of Family Medicine, McGill University, Montreal, QC, Canada.; Division of Experimental Medicine and Department of Social Studies of Medicine, McGill University, Montreal, QC, Canada., Eisenberg MJ; Lady Davis Institute for Medical Research, Jewish General Hospital/McGill University, Montreal, QC, Canada.; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada.; Department of Medicine, McGill University, Montreal, QC, Canada.; Division of Cardiology, Jewish General Hospital/McGill University, Montreal, QC, Canada.

Publikováno v: Heliyon [Heliyon] 2023 Mar 22; Vol. 9 (4), pp. e14630. Date of Electronic Publication: 2023 Mar 22 (Print Publication: 2023).

Shortening patient-reported outcome measures through optimal test assembly: Application to the Social Appearance Anxiety Scale in the Scleroderma Patient-centered Intervention Network Cohort

Autor: Harel, D., Mills, S.D., Kwakkenbos, L., Carrier, M.E., Nielsen, K., Portales, A., Bartlett, S.J., Malcarne, V.L., Thombs, B.D., Baron, M., Furst, D.E., Gottesman, K., Mayes, M.D., Mouthon, L., Nielson, W.R., Riggs, R., Sauve, M., Wigley, F., Assassi, S., Boutron, I., Maia, A.C., El-Baalbaki, G., Ells, C., Ende, C. van den, Fligelstone, K., Fortune, C., Frech, T., Godard, D., Hudson, M., Impens, A., Jang, Y., Johnson, S.R., Kennedy, A.T., Korner, A., Larche, M., Leite, C., Marra, C., Pope, J., Reyna, T.S.R., Schouffoer, A.A., Steele, R.J., Suarez-Almazor, M.E., Welling, J., Wong-Rieger, D., Agard, C., Albert, A., Andre, M., Arsenault, G., Benmostefa, N., Benzidia, I., Berthier, S., Bissonnette, L., Boire, G., Bruns, A., Carreira, P., Casadevall, M., Chaigne, B., Chung, L., Cohen, P., Dagenais, P., Denton, C., Domsic, R., Dubois, S., Dunne, J.V., Dunogue, B., Esquinca, A., Fare, R., Farge-Bancel, D., Fortin, P.R., Gill, A., Gordon, J., Granel-Rey, B., Grange, C., Gyger, G., Hachulla, E., Hatron, P.Y., Herrick, A.L., Hij, A., Hinchcliff, M., Ikic, A., Jones, N., Fernandes, A.J.D., Kafaja, S., Khalidi, N., Korman, B., Launay, D., Liang, P., London, J., Luna, D., Maillard, H., Manning, J., Martin, M., Martin, T., Masetto, A., Maurier, F., Mekinian, A., Melchor, S., Nikpour, M., Paule, R., Proudman, S., Regent, A., Riviere, S., Robinson, D., Rodriguez, E., Roux, S., Smets, P., Smith, D., Sobanski, V., Spiera, R., Steen, V., Stevens, W., Sutton, E., Terrier, B., Thorne, C., Varga, J., Wilcox, P., Wilson, M., Cumin, J., Fox, R.S., Gholizadeh, S., Jewett, L.R., Levis, B., Pepin, M.R., Turner, K.A., Lambert, M., SPIN Investigators

Publikováno v: BMJ Open, 9, 2
BMJ Open, 9
BMJ Open, 9(2)
BMJ Open

ObjectivesThe Social Appearance Anxiety Scale (SAAS) is a 16-item measure that assesses social anxiety in situations where appearance is evaluated. The objective was to use optimal test assembly (OTA) methods to develop and validate a short-form SAAS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b080ecbc21342a5255da2d52f1b2471b
https://hdl.handle.net/2066/201392

Ethical Considerations for the Inclusion of Patient-Reported Outcomes in Clinical Research: The PRO Ethics Guidelines.

Autor: Cruz Rivera S; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Birmingham Health Partners Centre for Regulatory Science and Innovation, University of Birmingham, Birmingham, United Kingdom.; DEMAND Hub, University of Birmingham, Birmingham, United Kingdom., Aiyegbusi OL; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Birmingham Health Partners Centre for Regulatory Science and Innovation, University of Birmingham, Birmingham, United Kingdom.; National Institute for Health and Care Research (NIHR) Applied Research Centre West Midlands, Birmingham, United Kingdom., Ives J; Centre for Ethics in Medicine, Bristol Medical School, University of Bristol, Bristol, United Kingdom., Draper H; Warwick Medical School, University of Warwick, Coventry, United Kingdom., Mercieca-Bebber R; NHMRC Clinical Trials Centre, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia., Ells C; School of Population and Global Health, McGill University, Montreal, Quebec, Canada., Hunn A; A J Hunn Associates, London, United Kingdom., Scott JA; PRO Center of Excellence, Global Commercial Strategy Organization, Janssen Global Services, Warrington, United Kingdom., Fernandez CV; Division of Pediatric Haematology-Oncology, IWK Health Care Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Dickens AP; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Observational and Pragmatic Research Institute, Midview City, Singapore., Anderson N; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom., Bhatnagar V; US Food and Drug Administration, Silver Spring, Maryland., Bottomley A; European Organization for Research and Treatment of Cancer, Brussels, Belgium., Campbell L; Medicines and Healthcare Products Regulatory Agency, London, United Kingdom., Collett C; Health Research Authority, London, United Kingdom., Collis P; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Patient partner, University of Birmingham, Birmingham, United Kingdom., Craig K; Fast Track Research Ethics Committee, Health Research Authority, London, United Kingdom., Davies H; Fast Track Research Ethics Committee, Health Research Authority, London, United Kingdom., Golub R; JAMA Network, Chicago, Illinois., Gosden L; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Patient partner, University of Birmingham, Birmingham, United Kingdom., Gnanasakthy A; RTI Health Solutions, Research Triangle, North Carolina., Haf Davies E; Aparito Limited, Wrexham, Wales, United Kingdom., von Hildebrand M; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Patient partner, University of Birmingham, Birmingham, United Kingdom., Lord JM; MRC-Versus Arthritis Centre for Musculoskeletal Ageing Research, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom.; NIHR Birmingham Biomedical Research Centre, University Hospital Birmingham and University of Birmingham, Birmingham, United Kingdom.; NIHR Surgical Reconstruction and Microbiology Research Centre, University Hospital Birmingham and University of Birmingham, Birmingham, United Kingdom., Mahendraratnam N; Aetion, Washington, DC., Miyaji T; Department of Clinical Trial Data Management, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan., Morel T; Global Patient-Centred Outcomes Research & Policy, UCB, Belgium, Brussels., Monteiro J; Nature Medicine , New York, New York., Zwisler AO; Department of Cardiology, Odense University Hospital, Odense, Denmark.; Clinical Institute, University of Southern Denmark, Odense, Denmark., Peipert JD; Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Roydhouse J; Menzies Institute for Medical Research, University of Tasmania, Tasmania, Australia.; Department of Health Services, Policy and Practice, Brown University School of Public Health, Providence, Rhode Island., Stover AM; University of North Carolina at Chapel Hill., Wilson R; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Consumer Forum, National Cancer Research Institute, London, United Kingdom.; Patient Involvement Network, Health Research Authority, London, United Kingdom., Yap C; Clinical Trials and Statistics Unit, The Institute of Cancer Research, London, United Kingdom., Calvert MJ; Centre for Patient Reported Outcomes Research, Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; Birmingham Health Partners Centre for Regulatory Science and Innovation, University of Birmingham, Birmingham, United Kingdom.; DEMAND Hub, University of Birmingham, Birmingham, United Kingdom.; National Institute for Health and Care Research (NIHR) Applied Research Centre West Midlands, Birmingham, United Kingdom.; NIHR Birmingham Biomedical Research Centre, University Hospital Birmingham and University of Birmingham, Birmingham, United Kingdom.; NIHR Surgical Reconstruction and Microbiology Research Centre, University Hospital Birmingham and University of Birmingham, Birmingham, United Kingdom.; Health Data Research United Kingdom, London, United Kingdom.; UK SPINE, University of Birmingham, Birmingham, United Kingdom.

Publikováno v: JAMA [JAMA] 2022 May 17; Vol. 327 (19), pp. 1910-1919.

Recency of immigration and utilization of dental care services in Canada.

Autor: Okechukwu CE; School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada., Ells C; School of Population and Global Health, McGill University, Montreal, QC, Canada., Newbold KB; School of Earth, Environment & Society, McMaster University, Hamilton, ON, Canada., Joe-Ikechebelu N; Social Dimensions of Health, University of Victoria, Victoria, BC, Canada., Manneh B; School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.

Publikováno v: Community dentistry and oral epidemiology [Community Dent Oral Epidemiol] 2021 Oct; Vol. 49 (5), pp. 487-493. Date of Electronic Publication: 2021 Feb 05.