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151. An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

Author: Veronique Vitart, Shona M. Kerr, Javier Santoyo-Lopez, Caroline Hayward, Alison M. Meynert, Colin A. Semple, Heikki Swan, James F. Wilson, Timothy J. Aitman, Zosia Miedzybrodzka, Chris Haley, Mihail Halachev, John Dean, Annukka M. Tuiskula, Thibaud Boutin, Lucija Klaric, HUSLAB, Staff Services, Kimmo Kontula Research Group, University of Helsinki, Department of Medicine, HUS Heart and Lung Center, and University Management
Subjects: Male, 0301 basic medicine, ERG1 Potassium Channel, lcsh:Medicine, Cohort Studies, Electrocardiography, 0302 clinical medicine, Genotype, lcsh:Science, Genetics, Sanger sequencing, education.field_of_study, Multidisciplinary, STATEMENT, ORIGIN, Medical genetics, 1184 Genetics, developmental biology, physiology, GENETIC-VARIATION, Middle Aged, POLICY, Pedigree, 3. Good health, Long QT Syndrome, symbols, Female, CHANNEL MUTATIONS, Population, HERG, Single-nucleotide polymorphism, Locus (genetics), Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, symbols.namesake, Genetic variation, Humans, education, Aged, SPECTRUM, KVLQT1, lcsh:R, Haplotype, 030104 developmental biology, Haplotypes, Scotland, lcsh:Q, Heritable quantitative trait, INFERENCE, 3111 Biomedicine, 030217 neurology & neurosurgery
Abstract: The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associating rare genetic variants, enriched in this isolate population, with quantitative traits and diseases. As an exemplar, the c.1750G > A; p.Gly584Ser variant within the coding sequence of the KCNH2 gene implicated in Long QT Syndrome (LQTS), which occurred once in 500 whole genome sequences from this population, was investigated. Targeted sequencing of the KCNH2 gene in family members of the initial participant confirmed the presence of the sequence variant and identified two further members of the same family pedigree who shared the variant. Investigation of these three related participants for whom single nucleotide polymorphism (SNP) array genotypes were available allowed a unique shared haplotype of 1.22 Mb to be defined around this locus. Searching across the full cohort for this haplotype uncovered two additional apparently unrelated individuals with no known genealogical connection to the original kindred. All five participants with the defined haplotype were shown to share the rare variant by targeted Sanger sequencing. If this result were verified in a healthcare setting, it would be considered clinically actionable, and has been actioned in relatives ascertained independently through clinical presentation. The General Practitioners of four study participants with the rare variant were alerted to the research findings by letters outlining the phenotype (prolonged electrocardiographic QTc interval). A lack of detectable haplotype sharing between c.1750G > A; p.Gly584Ser chromosomes from previously reported individuals from Finland and those in this study from Shetland suggests that this mutation has arisen more than once in human history. This study showcases the potential value of isolate population-based research resources for genomic medicine. It also illustrates some challenges around communication of actionable findings in research participants in this context.
Published: 2019

152. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author: Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Department of Medicine 1, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Medical Genetics, Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche (ISTC, CNR), Istituto di Scienze e Tecnologie della Cognizione, Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Department of Pediatrics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul], Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Children’s Hospital of Philadelphia (CHOP ), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Public Health Sciences, Karolinska Institutet [Stockholm], Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Università degli Studi di Camerino = University of Camerino (UNICAM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Oxford, GeneDx [Gaithersburg, MD, USA], Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Clinical Genetics, Aarhus University Hospital, Boston Children's Hospital, Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Institute of Biomedical Engineering [Oxford] (IBME), Climatic Research Unit, University of East Anglia [Norwich] (UEA), Imperial College London, St Mary's Hospital, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children's NHS Foundation Trust, Regional Genetic Service, St Mary's Hospital, Manchester, Genetics, University of Southampton, Great Ormond Street Hospital for Children [London] (GOSH), Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Molecular and Clinical Medicine [Dundee, UK] (School of Medicine), University of Dundee [UK]-Ninewells Hospital & Medical School [Dundee, UK], Department of Clinical Genetics, Oxford Regional Genetics Service, The Churchill hospital, North West Thames Regional Genetics, Northwick Park Hospital, Royal Devon & Exeter Hospital, Wessex Clinical Genetics Service, Wessex clinical genetics service, Manchester University NHS Foundation Trust (MFT), West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Guy's Hospital [London], University Hospitals Leicester, University of Edinburgh, Belfast City Hospital, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Institute of Medical Genetics, Heath Park, Cardiff, The London Clinic, Nottingham City Hospital, Clinical Genetics Department, St Michael's Hospital, Department of Genetic Medicine, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust (NUH), Royal Devon and Exeter Foundation Trust, Histopathology, St. George's Hospital, Teesside Genetics Unit, James Cook University (JCU), Kansas State University, Liverpool Women's NHS Foundation Trust, Department of Medical Genetics, HMNC Brain Health, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Ninewells Hospital and Medical School [Dundee], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Oxford Brookes University, Institute of medicinal plant development, Chinese Academy of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Trust, Service d'explorations fonctionnelles respiratoires [Lille], Department of Computer Science - Trinity College Dublin, University of Dublin, Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust), Division of Medical & Molecular Genetics, NHS Greater Glasgow & Clyde [Glasgow] (NHSGGC), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Weizmann Institute of Science [Rehovot, Israël], Southampton General Hospital, Western General Hospital, Head of the Department of Medical Genetics, University of Birmingham [Birmingham], SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), All Wales Medical Genetics Services, Singleton Hospital, Central Manchester University Hospitals NHS Foundation Trust, University of North Texas (UNT), Clinical Genetics, Northern Genetics Service, Newcastle University [Newcastle], United Kingdom Met Office [Exeter], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales (UHW), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Genetics, Cell- and Immunobiology, Semmelweis University, University Hospitals Bristol, Marketing (MKT), EESC-GEM Grenoble Ecole de Management, Addenbrookes Hospital, West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Department of Clnical Genetics, Chapel Allerton Hospital, Department of Clinical Genetics, Northampton General Hospital, Northampton, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Guy's and St Thomas' Hospital [London], School of Computer Science, Bangor University, University Hospital Southampton, Clinical Genetics Unit, St Georges, University of London, Medical Genetics, Cardiff University, Research and Development, Futurelab, Nottingham Regional Genetics Service [Nottingham, UK], Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus [Nottingham, UK], University of St Andrews [Scotland], Clinical Genetics Service, Nottingham University Hospitals NHS Trust - City Hospital Campus, West Midlands Regional Genetics Unit, Department of Neurology, Johns Hopkins University (JHU), Oxford University Hospitals NHS Trust, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Addenbrooke's Hospital, Cambridge University NHS Trust, Institute of Human Genetics, Newcastle, Division of Biological Stress Response [Amsterdam, The Netherlands], The Netherlands Cancer Institute [Amsterdam, The Netherlands], Johns Hopkins Bloomberg School of Public Health [Baltimore], Birmingham Women’s Hospital, Department of Genetics, Portuguese Oncology Institute, Molecular Genetics, IWK Health Centre, IWK health centre, North West london hospitals NHS Trust, Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), Birmingham women's hospital, Birmingham, Ethox Centre, Department of Public Health and Primary Health Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, R01 HD091846, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institutes of Health’s National Institute of Child Health and Human Development, Boston Children’s Hospital Faculty Development Fellowship, UM1HG008900, Broad Center for Mendelian Genomics, Chile’s National Commission for Scientific and Technological Research, DFG WE4896/3-1, German Research Society, WT 100127, Health Innovation Challenge Fund, Comprehensive Clinical Research Network, Skaggs-Oxford Scholarship, 10/H0305/83, Cambridge South REC, REC GEN/284/12, Republic of Ireland, WT098051, Wellcome Sanger Institute, 72160007, Comisión Nacional de Investigación Científica y Tecnológica, Children's Hospital of Philadelphia, Technische Universität Kaiserslautern, 1DH1813319, Dietmar Hopp Stiftung, National Institute for Health Research, Department of Health & Social Care, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Saint Vincent de Paul-GHICL, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Camerino (UNICAM), University of Oxford [Oxford], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Nottingham University Hospitals NHS Trust, Nottingham University Hospitals, SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, University Hospital of Wales, Grenoble Ecole de Management, Royal Devon and Exeter Hospital, City Hospital Campus [Nottingham, UK]-Nottingham University Hospitals NHS Trust [UK], ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], GHICL-Hôpital Saint Vincent de Paul, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Friedrich-Alexander d'Erlangen-Nuremberg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique [Vannes], Technische Universität München [München] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], University of Zürich [Zürich] (UZH), Università di Camerino (UNICAM), Birmingham Women's Hospital Healthcare NHS Trust, University Hospitals of Leicester, Sheffield Children’s Hospital, Weizmann Institute of Science, and Grenoble Ecole de Management (GEM)
Subjects: 0301 basic medicine, Male, Microcephaly, [SDV]Life Sciences [q-bio], Haploinsufficiency, autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Epilepsy, Female, Humans, Infant, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Global developmental delay, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Hypotonia, 030220 oncology & carcinogenesis, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], 03 medical and health sciences, Report, medicine, Journal Article, Expressivity (genetics), Preschool, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Macrocephaly, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, business, 030217 neurology & neurosurgery
Abstract: Contains fulltext : 206572.pdf (Publisher’s version ) (Open Access) We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities.
Published: 2019

153. Update from RCP Quality Improvement: supporting and learning with the next generation of 'improvers'

Author: John Dean
Subjects: Medical education, Quality management, Work (electrical), business.industry, Health care, Early career, Business, Process of care, Online community, Developed country, Update, Service development
Abstract: This part of the Future Healthcare Journal is where you will find regular updates on the work of the RCP Quality Improvement Programme. We very much welcome your feedback. If you have any comments, or would like to be involved in the work of the Programme, please contact RCPQI@rcplondon.ac.uk. Times are changing. There was a time when service development or changes in the processes of care were the remit of the clinical director, lead consultant or senior nurse. Then came the recognition that certain approaches to delivering change may lead to more successful implementation in healthcare as well as in other ‘industries’. This is what became known as quality improvement or QI.1 Initially there were a growing band of enthusiasts for QI in many developed countries, and gradually more healthcare professionals and managers have recognised the benefit of taking these approaches. Around 10 years ago the concept that early career healthcare professionals could be the agents for significant change and improvement was developing, and the Institute for Healthcare Improvement developed IHI Open School, an online community of healthcare professionals in training, who …
Published: 2019

154. Systems engineering for healthcare improvement 101

Author: John, Dean
Subjects: Health Services and Policy
Published: 2019

155. The impact of organizational culture on total quality management in SMEs in Nigeria

Author: John Dean Ojeka, Bushirat Oyetunji, Gabriel Kolade Olorunleke, Olamide Oluwabusola Akintimehin, and Anthony Abiodun Eniola
Subjects: 0301 basic medicine, Multidisciplinary, Total quality management, Knowledge management, business.industry, Organizational culture, Nigeria, Article, Test (assessment), Comprehension, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, SMEs' performance, lcsh:H1-99, Business, lcsh:Social sciences (General), Dimension (data warehouse), lcsh:Science (General), 030217 neurology & neurosurgery, lcsh:Q1-390
Abstract: The goal of this exploration is to observationally test the connection between total quality management and SMEs' performance. Specifically, it looks at whether organizational culture (OC) has an interceding impact on the TQM-SMEs performance relationship. Established on the literature review of TQM, OC and SMEs performance, the theoretical model for this investigation was formed. A self-controlled survey was utilized to gather information from the SMEs owners-managers in the South-western region of Nigeria. In determining the relationship, SEM-PLS 3.0 was utilized. Measurable results add to the literature by showing a positive direct impact of TQM and OC on SMEs' performance, and a critical and positive aberrant impact of TQM on SMEs' performance through OC. The quantitative cross-sectional research configuration explored an example of assembling SMEs. Subjective methods or a contextual investigation approach for additional data examination could be utilized for subsequent research. The results of this exploration give awareness into SMEs' owners-managers in the present unique manufacturing setting, concentrating on TQM as an instrument for improving their performance. The outcomes can help SMEs by giving direction with regards to the OC, on account of its impact on the effective execution of TQM, in this way improving the dimension of performance. The examination expands the TQM literature with an extensive comprehension of TQM from the point of view of SMEs in Nigeria. It fills the void in observational examinations that research the joint impact of TQM and OC on SMEs' performance.
Published: 2019

156. MP40-13 UNDERSTANDING THE SEXUAL HABITS OF MEN TAKING MEDICATION FOR ERECTILE DYSFUNCTION: SURVEY RESULTS FROM AUSTRALIA, EGYPT, MEXICO AND UNITED KINGDOM

Author: John Dean, Ahmed I. El-Sakka, Shaantanu Donde, Tarek A. Hassan, and Chad D. Harshman-Smith
Subjects: medicine.medical_specialty, Erectile dysfunction, Sexual behavior, business.industry, Urology, Family medicine, medicine, Effective management, Survey result, Context (language use), business, medicine.disease, Taking medication
Abstract: INTRODUCTION AND OBJECTIVES:Effective management of erectile dysfunction (ED) requires an understanding of people’s planning of intercourse, yet studies exploring sexual behavior in the context of ...
Published: 2019

157. Update from RCP Quality Improvement: Quality improvement faculty and partners network

Author: John Dean and Gabby Rice
Subjects: Medical education, Quality management, Joint working, Work (electrical), business.industry, Health care, MEDLINE, business, Update
Abstract: This part of the Future Healthcare Journal is where you will find regular updates on the work of the RCP Quality Improvement programme. We very much welcome your feedback. If you have any comments, or would like to be involved in the work of the programme, please contact RCPQI@rcplondon.ac.uk. The work of the Royal College of Physicians (RCP) Quality Improvement (QI) programme is collaborative in its nature, and reliant on joint working with a number of colleagues inside and outside of the college. People and organisations will connect, collaborate and contribute to RCPQI’s work and aims to differing degrees. To enable this we are developing our partners network and faculty. RCPQI aims to make quality improvement easily accessible. It supports physicians and their teams to develop and provide safe, timely, evidence-based, efficient and person-centred care, to achieve the RCPs strategic aim to improve quality.1 This work is delivered through six work streams (Fig 1), which are supported by a faculty of quality improvement experts. Fig 1. Royal College of Physicians Quality Improvement programme workstreams. Building on the success of the Future Hospital programme partners network we are now connecting people we work with …
Published: 2019

158. Correction: Are viral-infections associated with Ménière's Disease? A systematic review and meta-analysis of molecular-markers of viral-infection in case-controlled observational studies of MD

Author: Nicholas John Dean, Christopher Pastras, Daniel Brown, and Aaron Camp
Subjects: Multidisciplinary, Databases, Factual, Science, Correction, Cytomegalovirus, Antibodies, Viral, Observational Studies as Topic, Virus Diseases, DNA, Viral, Odds Ratio, Humans, Medicine, Meniere Disease
Abstract: Despite considerable research, it remains controversial as to whether viral-infections are associated with Meniere's Disease (MD), a clinically heterogeneous set of chronic inner-ear disorders strongly associated with endolymphatic hydrops. Here, we investigated whether viral-infections are associated with MD through a systematic review and meta-analysis of observational clinical studies using molecular-diagnostics. Eligible for inclusion were case-controlled studies which ascertained molecular-determinants of past or present viral-infection through either viral nucleic acids or host serological marker in MD cases and non-MD controls. Across online databases and grey literature, we identified 210 potentially relevant articles in the English language, from which a total of 14 articles fully satisfied our eligibility criteria such that meta-groups of 611 MD-cases and 373 controls resulted. The aggregate quality of the modest-sized (14 studies) body of evidence was limited and varied considerably with regards to participant selection, matching, and ascertainment(s) and determinant(s) of viral-infection. Most data identified concerned the human cytomegalovirus (CMV), and meta-analysis of eligible studies revealed that evidence of CMV-infection was associated approximately three-fold with MD compared to controls, however the timing of the infections was indeterminate as the pooled analyses combined antiviral serological markers with viral nucleic acid markers. No association was found for any of HSV-1, -2, VZV, or EBV. Associative analyses of any viral species not aforementioned were precluded by limited data, and thus potential associations between other viral species and MD, especially other than Herpesviridae, are yet to be characterised. Overall, we have found a small association between CMV-infection and MD, however it is to be determined for what sub-groups of MD this finding may be relevant, and ideally the reported association remains would be reproduced by a greater volume of higher quality evidence.
Published: 2019

159. Introduction to Programming with Java ISE

Author: John Dean, Ray Dean, John Dean, and Ray Dean
Abstract: Introduction to Programming with Java: A Problem Solving Approach teaches the reader how to write programs using Java. It does so with a unique approach that combines fundamentals first with objects early. The book transitions smoothly through a carefully selected set of procedural programming fundamentals to object-oriented fundamentals. During this early transition and beyond, the book emphasizes problem solving. For example, Chapter 2 is devoted to algorithm development, Chapter 8 is devoted to program design, and problem-solving sections appear throughout the book. The third edition introduces several new Java language features, most of the end-of-chapter GUI sections and the final GUI chapters use JavaFX, and almost all end-of-chapter exercises are new.
Published: 2020

160. THE DRAINING OF THE FENS: PROJECTORS, POPULAR POLITICS, AND STATE BUILDING IN EARLY MODERN ENGLAND Ash Eric H.

Author: Davis, John Dean
Published: 2017

161. Phenotype-driven molecular autopsy for sudden cardiac death

Author: Dawn O'Sullivan, H. Hailey, John Dean, Michael Corbett, Stephen Tennant, Paul Broadhurst, Fiona Cann, James Hk Grieve, and Rosslyn Rankin
Subjects: 0301 basic medicine, medicine.medical_specialty, DSC2, business.industry, Cardiomyopathy, Hypertrophic cardiomyopathy, 030204 cardiovascular system & hematology, 030105 genetics & heredity, medicine.disease, Sudden death, Right ventricular cardiomyopathy, Sudden cardiac death, Arrhythmogenic right ventricular dysplasia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Cardiology, MYH7, business, Genetics (clinical)
Abstract: A phenotype-driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardiac death cases. A total of 46 cases aged 1-40 years had normal hearts and suspected arrhythmic death. Seven (15%) had likely pathogenic variants in ion channelopathy genes [KCNQ1 (1), KCNH2 (4), SCN5A (1), RyR2(1)]. Fifty cases aged between 2 and 67 had a cardiomyopathy. Twenty-five had arrhythmogenic right ventricular cardiomyopathy (ARVC), 10 dilated cardiomyopathy (DCM) and 15 hypertrophic cardiomyopathy (HCM). Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1). Uptake of cascade screening in relatives was higher when a molecular diagnosis was made at autopsy. In three families, variants previously published as pathogenic were detected, but clinical investigation revealed no abnormalities in carrier relatives. With a conservative approach to defining pathogenicity of sequence variants incorporating family phenotype information and population genomic data, a molecular diagnosis was made in 15% of sudden arrhythmic deaths and 18% of cardiomyopathy deaths.
Published: 2016

162. Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy

Author: John Dean, Graham S. Hillis, David S. Celermajer, Preeti Choudhary, Paul Broadhurst, Heather Greig, Ramasami Nandakumar, and Rajesh Puranik
Subjects: Male, Ventricular Dysfunction, Right, Action Potentials, 030204 cardiovascular system & hematology, Doppler echocardiography, Ventricular Function, Left, 0302 clinical medicine, Heart Rate, Risk Factors, Natriuretic Peptide, Brain, Prevalence, Myotonic Dystrophy, Ventricular Remodeling, medicine.diagnostic_test, Middle Aged, Prognosis, Magnetic Resonance Imaging, Echocardiography, Doppler, cardiovascular system, Cardiology, Female, Electrical conduction system of the heart, medicine.symptom, Cardiomyopathies, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Myotonic dystrophy, Asymptomatic, 03 medical and health sciences, Heart Conduction System, Internal medicine, medicine, Humans, Genetic testing, Asymptomatic Diseases, business.industry, Myocardium, Case-control study, Arrhythmias, Cardiac, Stroke Volume, medicine.disease, Fibrosis, Scotland, Case-Control Studies, Electrocardiography, Ambulatory, Ventricular Function, Right, business, Electrocardiography, Biomarkers, 030217 neurology & neurosurgery
Abstract: Cardiac disease accounts for a large burden of premature mortality and morbidity in patients with type 1 myotonic dystrophy (MD). However, little is known about structural cardiac abnormalities particularly in asymptomatic patients with MD. We sought to describe the prevalence and extent of structural cardiac abnormalities in patients with MD and to assess their association with functional, electrical, biochemical and genetic disturbances.In this case-control study, 40 adults with MD who had no contraindications to cardiac MRI (CMR) were identified from the Grampian region genetic database. Forty-one age-and-gender-matched healthy volunteers were also recruited. All subjects underwent detailed assessment including CMR, echocardiography, electrocardiography, signal-averaged electrocardiography, Holter monitoring and quantification of serum B-type natriuretic peptide (BNP). Genetic testing of patients with MD was performed with quantification of CTG trinucleotide repeat sequences. Results of clinical, electrical, genetic and biochemical investigations were correlated with cardiac structural and functional abnormalities detected on CMR.Electrical disturbances including prolongation of PR (187±29 vs 156±23 ms, p0.001) and QRS intervals (99±11 vs 89±9 ms, p0.001) were the most prevalent abnormality. Patients with MD had a significantly lower left ventricular (LV) mass (142±44 vs 172±73 g, p=0.03) and lower right ventricular (RV) ejection fraction (46±9 vs 50±7%, p=0.02) compared with controls, although LV ejection fraction was similar between the groups (58±8 vs 59±6%, p=0.34). LV non-compaction was also significantly more prevalent in the MD cohort (35% vs 12%, p=0.019). Late gadolinium enhancement was present in 13% of patients with MD. Muscular disability scores correlated with electrical changes (r=0.529, p0.001); however, the number of CTG repeat sequences did not correlate with either electrical or structural abnormalities.Patients with MD have a high prevalence of both electrical and structural abnormalities. These include reduced LV mass, impaired RV contractility, a high prevalence of LV non-compaction and myocardial fibrosis. These findings illustrate the potential utility of CMR detecting subclinical disease in otherwise asymptomatic patients with MD.
Published: 2016

163. Society of Interventional Radiology Quality Improvement Guidelines for Percutaneous Vertebroplasty

Author: McGraw, J. Kevin, Cardella, John, Barr, John Dean, Mathis, John M., Sanchez, Orestes, Schwartzberg, Marc S., Swan, Timothy L., and Sacks, David
Published: 2003
Full Text: View/download PDF

164. Survey of the Literature December 2015

Author: Johanna L. Hannan, Lesley Marson, Rose Hartzell-Cushanick, John Dean, Theodore R. Saitz, Sophie Bergeron, and Michael Krychman
Subjects: Information retrieval, business.industry, Urology, Endocrinology, Diabetes and Metabolism, lcsh:R, lcsh:Medicine, Dermatology, lcsh:Other systems of medicine, Survey of Literature, lcsh:RZ201-999, Data science, Behavioral Neuroscience, Psychiatry and Mental health, Endocrinology, Text mining, Reproductive Medicine, Medicine, business
Published: 2015

165. The Draining of the Fens: Projectors, Popular Politics, and State Building in Early Modern England

Author: John Dean Davis
Subjects: Politics, Political science, Economic history, State-building, Nature and Landscape Conservation
Published: 2017

166. Physical Evidence for Ritual Acts, Sorcery and Witchcraft in Christian Britain: A Feeling for Magic

Author: John Dean and Nick Hill
Subjects: Literature, History, Visual Arts and Performing Arts, Feeling, business.industry, media_common.quotation_subject, Architecture, Conservation, Art, business, Magic (paranormal), media_common
Abstract: The study of apotropaic marks and ritual deposits within buildings has attracted growing attention in recent years. In this book, Ronald Hutton brings together a number of leading experts, to provi...
Published: 2017

167. Safety of referred doctors: All doctors are human and therefore vulnerable

Author: John Dean
Subjects: medicine.medical_specialty, media_common.quotation_subject, Humiliation, General Medicine, 030204 cardiovascular system & hematology, Livelihood, Sadness, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, Psychiatry, Psychology, media_common
Abstract: This Week, 7 March I read this news story1 with great sadness. A systemic failure has led to the suicide of a doctor fearing the loss of his livelihood, public disgrace, and humiliation based …
Published: 2020

168. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and APH - Quality of Care
Subjects: 0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: © 2019 American Society of Human Genetics The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.
Published: 2018

169. Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

Author: Rebecca Bromley, Susan E. Holder, Jill Clayton-Smith, Charu Deshpande, Deciphering Developmental Disorders Study, Adam Jackson, Nora Shannon, Heather Ward, Pradeep Vasudevan, Diana Baralle, Ingrid Scurr, John Dean, and Jonathan Berg
Subjects: Male, Developmental Disabilities, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, 030225 pediatrics, Exome Sequencing, medicine, Humans, Copy-number variation, Child, Exome sequencing, Retrospective Studies, Epilepsy, Microarray analysis techniques, business.industry, Valproic Acid, Chromosome, Abnormalities, Drug-Induced, Carbamazepine, medicine.disease, Phenotype, Developmental disorder, Pregnancy Complications, In utero, Child, Preschool, Prenatal Exposure Delayed Effects, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: IntroductionFetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential.MethodsWe reviewed the pathogenicity of reported variants identified on exome sequencing in the Deciphering Developmental Disorders (DDD) Study in 42 children exposed to AEDs in utero, but where a diagnosis other than FACS was suspected. In addition, we analysed chromosome microarray data from 10 patients with FACS seen in a Regional Genetics Service.ResultsSeven children (17%) from the DDD Study had a copy number variant or pathogenic variant in a developmental disorder gene which was considered to explain or partially explain their phenotype. Across the AED exposure types, variants were found in 2/15 (13%) valproate exposed cases and 3/14 (21%) carbamazepine exposed cases. No pathogenic copy number variants were identified in our local sample (n=10).ConclusionsThis study is the first of its kind to analyse the exomes of children with developmental disorders who were exposed to AEDs in utero. Though we acknowledge that the results are subject to bias, a significant number of children were identified with alternate diagnoses which had an impact on counselling and management. We suggest that consideration is given to performing whole exome sequencing as part of the diagnostic work-up for children exposed to AEDs in utero.
Published: 2018

170. De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Author: Susan E. Holder, Claudio Graziano, Véronique Lefebvre, Joshua D. Smith, Ash Zawerton, Lisa Wischmann, Susanne J. Kühl, John Dean, Tommaso Pippucci, J. Paige Yeager, Deciphering Developmental Disorders Study, Daniela T. Pilz, Baojin Yao, Abdul Haseeb, and Alisdair McNeill
Subjects: 0301 basic medicine, Male, Transcriptional Activation, Heterozygote, In silico, Xenopus, Mutation, Missense, Biology, Xenopus Proteins, Article, SOXC Transcription Factors, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Genetics, Coffin-Lowry Syndrome, Missense mutation, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Child, Transcription factor, Exome sequencing, Genetics (clinical), Conserved Sequence, SOX Transcription Factors, Reporter gene, Neurogenesis, Correction, DNA, medicine.disease, biology.organism_classification, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, HMG-Box Domains, Female, 030217 neurology & neurosurgery
Abstract: SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have been shown to cause intellectual disability, growth deficiency, and dysmorphic features compatible with mild Coffin-Siris syndrome. Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. SOX4 is highly expressed in areas of active neurogenesis in human fetuses, and sox4 knockdown in Xenopus embryos diminishes brain and whole-body size. The SOX4 variants cluster in the highly conserved, SOX family-specific HMG domain, but each alters a different residue. In silico tools predict that each variant affects a distinct structural feature of this DNA-binding domain, and functional assays demonstrate that these SOX4 proteins carrying these variants are unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. These variants are not found in the gnomAD database of individuals with presumably normal development, but 12 other SOX4 HMG-domain missense variants are recorded and all demonstrate partial to full activity in the reporter assay. Taken together, these findings point to specific SOX4 HMG-domain missense variants as the cause of a characteristic human neurodevelopmental disorder associated with mild facial and digital dysmorphism.
Published: 2018

171. A systems approach to healthcare: from thinking to -practice

Author: Tom Bashford, John Clarkson, James Ward, Alexander Komashie, John Dean, Clarkson, John [0000-0001-8018-7706], Ward, James [0000-0002-0362-4711], Komashie, Alexander [0000-0002-0715-4729], Bashford, Tom [0000-0003-0228-9779], and Apollo - University of Cambridge Repository
Subjects: Value (ethics), systems engineering, Quality management, healthcare systems, Computer science, business.industry, Focus on a Systems Approach, 010102 general mathematics, Psychological intervention, 01 natural sciences, healthcare improvement, quality improvement, Systems approach, 03 medical and health sciences, 0302 clinical medicine, Risk analysis (engineering), Health care, 030212 general & internal medicine, 0101 mathematics, business, Complex problems, Healthcare system
Abstract: Medicine is increasingly complex, involving a highly connected system of people, resources, processes, and institutions. Attempts to improve care involve disruptions to this system, with the potential for wide-ranging consequences, both positive and negative. Despite this, many improvement methodologies are poorly equipped to manage either complexity or risk – instead focusing on discrete interventions whose effects are narrowly monitored. Engineers have long understood that complex problems require a systems view, and that attempts to make things better can themselves introduce new risk into a system. Given this, an engineering systems approach may be of significant value to those trying to improve healthcare. Two fundamental questions emerge from such an approach: what can we do better, and what could possibly go wrong? This paper describes the evolution of a systems approach to healthcare, and explores a recently co-developed framework outlining a systems approach based upon a synergy between healthcare and engineering.
Published: 2018

172. Moving towards evidence-based care system design

Author: John Clarkson and John Dean
Subjects: 020205 medical informatics, Psychological intervention, Social environment, 02 engineering and technology, Evidence-based medicine, Disease, 03 medical and health sciences, 0302 clinical medicine, Editorial, Work (electrical), Nursing, 0202 electrical engineering, electronic engineering, information engineering, Systems design, 030212 general & internal medicine, Medical diagnosis, Psychology
Abstract: Physicians understand systems. It is the interplay between different body systems, the environment and social context that is expressed as disease or risk of disease. It is an assessment of these and the benefits and risks of treatments that forms shared management plans, and it is the monitoring of the effects of these plans that modifies ongoing care. Physicians also work on evidence, evidence to support and make diagnoses, evidence of expected effectiveness of treatment, evidence of risks of disease and interventions, and evidence of the effect of treatments and disease on individual patients. When it comes to designing and improving how we deliver care for patients and populations it is essential that we take an evidence-based systems approach. We have …
Published: 2018

173. Perioperative arrhythmias

Author: John Dean
Subjects: cardiovascular system, cardiovascular diseases, humanities
Abstract: This chapter describes perioperative cardiac arrhythmias. These comprise narrow complex arrhythmias, broad complex arrhythmias, and heart block. The chapter describes the perioperative management of pre-existing arrhythmias (such as atrial fibrillation), including the patient with an implanted pacemaker or defibrillator. It also describes the management of arrhythmias which may arise during the course of anaesthesia.
Published: 2018

174. The European Physiotherapy Guideline for Parkinson's Disease: Implications for Neurologists

Author: Josefa, Domingos, Samyra H J, Keus, John, Dean, Nienke M, de Vries, Joaquim J, Ferreira, and Bastiaan R, Bloem
Subjects: Activities of Daily Living, Quality of Life, Humans, Parkinson Disease, Neurologists, Gait, Postural Balance, Physical Therapy Modalities
Abstract: The evidence for physiotherapy is growing, showing a positive impact on functional activities involving gait, transfers and balance. Specific recommendations for physiotherapists, physicians and people with Parkinson's disease were published in the European Physiotherapy Guideline for Parkinson's disease. Here, we summarize the referral criteria, highlight the importance of accurate referral to specialized physiotherapists, and emphasize the potential benefits of expert care. As such, this paper offers very practical guidance for clinicians working with Parkinson's disease patients and who consider physiotherapy treatments for their patients.
Published: 2018

175. Levees, Slavery, and Maintenance

Author: John Dean Davis
Subjects: geography, History, geography.geographical_feature_category, Forensic engineering, Levee
Published: 2018

176. Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

Author: Basil Paul, Yong Xu, Guo-Lian Ding, Yan Kong, Ddd study, Qi Wu, Xinguo Hou, Wenjun Zhou, Atteeq U. Rehman, Sungguan Hong, Yanlin He, John Dean, Wenxian Zhou, Zhandong Liu, Pengfei Liu, Chuhan Wang, Zheng Sun, Emmanuel Scalais, Hari Krishna Yalamanchili, Ying-Wooi Wan, Mary O'Driscoll, Hao Liu, Jenny Morton, Yingyun Gong, and Qingchun Tong
Subjects: 0301 basic medicine, Lateral hypothalamus, Databases, Factual, Hypothalamus, Mice, Transgenic, Hippocampal formation, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Memory, Intellectual Disability, Neural Pathways, medicine, Animals, Nuclear Receptor Co-Repressor 1, Nuclear Receptor Co-Repressor 2, GABAergic Neurons, Nuclear receptor co-repressor 1, Memory Disorders, Neuronal Plasticity, GABAA receptor, General Neuroscience, Excitatory Postsynaptic Potentials, Long-term potentiation, Receptors, GABA-A, CA3 Region, Hippocampal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Synaptic plasticity, GABAergic, Neuron, Neuroscience, 030217 neurology & neurosurgery
Abstract: Nuclear receptor corepressor 1 (NCOR1) and NCOR2 (also known as SMRT) regulate gene expression by activating histone deacetylase 3 through their deacetylase activation domain (DAD). We show that mice with DAD knock-in mutations have memory deficits, reduced anxiety levels, and reduced social interactions. Mice with NCOR1 and NORC2 depletion specifically in GABAergic neurons (NS-V mice) recapitulated the memory deficits and had reduced GABAA receptor subunit α2 (GABRA2) expression in lateral hypothalamus GABAergic (LHGABA) neurons. This was associated with LHGABA neuron hyperexcitability and impaired hippocampal long-term potentiation, through a monosynaptic LHGABA to CA3GABA projection. Optogenetic activation of this projection caused memory deficits, whereas targeted manipulation of LHGABA or CA3GABA neuron activity reversed memory deficits in NS-V mice. We describe de novo variants in NCOR1, NCOR2 or HDAC3 in patients with intellectual disability or neurodevelopmental disorders. These findings identify a hypothalamus-hippocampus projection that may link endocrine signals with synaptic plasticity through NCOR-mediated regulation of GABA signaling.
Published: 2018

177. Proliferation of community exercise programs with limited evidence and expertise: Safety implications

Author: Josefa, Domingos, John, Dean, Catarina, Godinho, and Filipe, Melo
Subjects: Residence Characteristics, Humans, Parkinson Disease, Regional Medical Programs, Exercise Therapy
Published: 2018

178. Marfan Syndrome and Related Disorders

Author: John Dean and Bart Loeys
Subjects: Nosology, Marfan syndrome, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.disease, Loeys–Dietz syndrome, Craniosynostosis, Pharmacotherapy, Medicine, Hypertelorism, medicine.symptom, business, Ectopia lentis, Genetic testing
Abstract: Marfan syndrome is the best known of the hereditary aortopathies, but its clinical variability and multisystem involvement often make diagnosis and management challenging. The skeletal and ocular findings overlap with other conditions, but FBN1 genetic testing and clinical assessment using the Ghent nosology is recommended. Loeys Dietz Syndrome is a related aortopathy, associated with changes in other genes in the same pathway (TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2). Features such as cleft palate, bifid uvula, hypertelorism, craniosynostosis and osteoarthritis and the absence of ectopia lentis suggest Loeys Dietz. Trial evidence suggests that beta-blockers and angiotensin 2 receptor blockers delay dilatation of the Marfan aorta. Regular imaging is required to determine the timing of prophylactic aortic root surgery. Management of Loeys Dietz Syndrome follows similar principles, except that drug therapy has not been proven in trials, and more widespread imaging of the arterial tree and earlier surgery is recommended.
Published: 2018

179. Update from RCP Quality Improvement: Bringing together the experts to improve services

Author: Laura Burling, John Dean, and Helen Gentles
Subjects: Quality management, Work (electrical), Nursing, General partnership, Business, Service improvement, Quality of care, Update
Abstract: An essential part of any service improvement is to bring the right experts together. They can help to determine the current quality of care, where to focus improvement and what to measure to demonstrate if things have improved. Who could be more expert than patients, and yet true partnership with patients in service improvement remains the exception rather than the norm. Ensuring true partnership with patients in decision making around care and services was a central feature of the Royal College of Physicians’ (RCP's) Future Hospital Commission.1 The independent evaluation of the Future Hospital Programme highlighted the pivotal role of supporting patients to be within improvement teams in the success of the sites.2 Therefore, in the work of RCP Quality Improvement (RCPQI), we are ensuring that patient partnership is central. The RCP's Patient and Carer Network (PCN) has been established for 15 …
Published: 2019

180. Update from RCP Quality Improvement: QI, what do we need to learn?

Author: John Dean and Emma Vaux
Subjects: Medical education, Quality management, Work (electrical), Psychology, Curriculum, Update
Abstract: Quality improvement activities are now an established part of the training of postgraduate doctors in the UK, largely by being involved with or leading quality improvement projects. Learning activities should enable the development of professional capabilities that are outlined by the General Medical Council (GMC).1 However, the more detailed knowledge, skills and practice that need to be learned through this had not been clearly described. It is now widely accepted that quality improvement includes both technical and behavioural elements, and that learning these through practical experience as well as source materials is necessary. The Academy of Medical Royal Colleges (AoMRC) report Quality Improvement – training for better outcomes published in 2016 started to outline knowledge, skills, values and behaviours that would be required within a quality improvement curriculum at different stages of medical careers and recommended that royal colleges should develop these further.2 Work over the last 2 years has continued, with the medical royal colleges quality improvement leads …
Published: 2019

181. The effects of vermicompost tea on the growth and yield of lettuce and tomato in a non-circulating hydroponics system

Author: Arancon, Norman Q., primary, Owens, John Dean, additional, and Converse, Chad, additional
Published: 2019
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182. SAT0419 HAS THE INTRODUCTION OF A PRIMARY CARE GOUT GUIDELINE RESULTED IN SERUM URIC ACID (SUA) TARGETS BEING ACHIEVED?

Author: Farid, Rashid, primary, Gray, Leanne, additional, John, Dean, additional, Holehouse, Daniel, additional, and Ottewell, Lesley, additional
Published: 2019
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183. Hate Speech and Fake News: A Study of Meanings and Perceptions in Nigerian Political Culture

Author: AJAKAIYE, Olanrewaju O. P., primary, OJEKA, John Dean, additional, OSUEKE, Ngozi. O., additional, OWOEYE, Gbenga, additional, OLANIRU, Oluwatosin S, additional, and OJEKA-JOHN, Rachael. O., additional
Published: 2019
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184. Impact of Fiscal Policy on Agricultural Output in Nigeria

Author: LAWAL, Adedoyin Isola, primary, FIDELIS, Ernest Onyebuchi, primary, BABAJIDE, Abiola Ayoopo, primary, OBASAJU, Barnabas O., primary, OYETADE, Oluwatoyese, primary, LAWAL-ADEDOYIN, Bukola, primary, OJEKA, John Dean, primary, and OLANIRU, Oluwatosin S., primary
Published: 2019
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185. Effects of Physical Exercise on Gait and Balance in Patients with Parkinson's Disease

Author: Chiong, John Dean, primary, Patel, Vivek, additional, and Tairan, Hussain Mansour, additional
Published: 2019
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186. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author: Víctor Faundes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J. Davies, Michelle K. Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael J. Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, V.K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, and Matthew E. . Hurles
Subjects: 0301 basic medicine, ASH1L, Male, Methyltransferase, Adolescent, Histone lysine methylation, KMT5B, Developmental Disabilities, Haploinsufficiency, Biology, Compound heterozygosity, histone lysine methyltransferase, Chromatin remodeling, chromatin remodeling, 03 medical and health sciences, histone lysine demethylase, Report, Genetics, Humans, Child, Genetics (clinical), Regulation of gene expression, Histone Demethylases, Developmental disorders, KMT2C, KMT2B, Histone-Lysine N-Methyltransferase, 030104 developmental biology, Histone, Overgrowth syndrome, Child, Preschool, Mutation, biology.protein, KDM5B, Female
Abstract: Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders.
Published: 2017

187. Inductively Coupled Plasma Spectrometry

Author: John Dean
Published: 2017

188. Web Programming with HTML5, CSS, and JavaScript

Author: John Dean and John Dean
Subjects: JavaScript (Computer program language), Cascading style sheets, Internet programming, HTML (Document markup language)
Abstract: Web Programming with HTML5, CSS, and JavaScript is written for the undergraduate, client-side web programming course. It covers the three client-side technologies (HTML5, CSS, and JavaScript) in depth, with no dependence on server-side technologies.
Published: 2018

189. A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Author: Shalaka Samant, Panayiotis Constantinou, John Dean, Paul Lochhead, Mariella D'Alessandro, W. Michael Bisset, and Catherine Hauptfleisch
Subjects: Pediatrics, medicine.medical_specialty, Unilateral renal agenesis, Pathology, business.industry, Prominent metopic suture, Compound heterozygosity, Cobalamin, LMBRD1 mutation, 3. Good health, chemistry.chemical_compound, chemistry, Novel Insights from Clinical Practice, Failure to thrive, Cobalamin F disorder, Genetics, medicine, medicine.symptom, LMBRD1 gene, business, Genetics (clinical), Exome sequencing
Abstract: Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.
Published: 2015

190. MEDIA, TERRORISM REPORTING AND LESSONS IN AWARENESS SUSTENANCE: the Nigerian newspapers' coverage of the Chibok girls' abduction.

Author: NWOZOR, AGAPTUS, OJEKA, JOHN DEAN, ALEYOMI, MICHAEL B., OWOEYE, GBENGA, OJEKA-JOHN, RACHAEL, and OKIDU, ONJEFU
Subjects: ABDUCTION, NEWSPAPERS, SOCIAL responsibility of business, TERRORISM, NONGOVERNMENTAL organizations, KIDNAPPING, CHILD abduction
Abstract: Copyright of Brazilian Journalism Research is the property of Sur le journalisme, About journalism, Sobre jornalismo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2021
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191. BURN MARKS ON BUILDINGS: ACCIDENTAL OR DELIBERATE?

Author: John Dean and Nick Hill
Subjects: History, Engineering, Visual Arts and Performing Arts, business.industry, Accidental, Architecture, Forensic engineering, Conservation, business, Field survey
Abstract: Burn marks on buildings have generally been considered to be the result of accidents, and dismissed as meaningless. A detailed programme of archaeological experimentation has been carried out to establish how burn marks are caused, and field evidence has been drawn together from a wide range of sources. The experimental evidence indicates that the great majority of burn marks must have been made deliberately. The field survey has shown that burn marks are very widespread, with clear patterning of the activity. Although the motives behind the creation of these marks are not yet understood, it is clear that this very extensive new category of data must be added to the study of ritual marks in buildings.
Published: 2014

192. Practical Skills in Chemistry

Author: John Dean, Alan M Langford, David A Holmes, Rob Reed, Jonathan Weyers, Allan Jones, John Dean, Alan M Langford, David A Holmes, Rob Reed, Jonathan Weyers, and Allan Jones
Subjects: Chemistry--Study and teaching
Abstract: The full text downloaded to your computer With eBooks you can: search for key concepts, words and phrases make highlights and notes as you study share your notes with friends eBooks are downloaded to your computer and accessible either offline through the Bookshelf (available as a free download), available online and also via the iPad and Android apps. Upon purchase, you'll gain instant access to this eBook. Time limit The eBooks products do not have an expiry date. You will continue to access your digital ebook products whilst you have your Bookshelf installed. Practical Skills in Chemistry 3rd edition is a highly unique textbook that combines a wealth of practical knowledge and skills with the more technical aspects of chemistry. It provides a general guidance for use in and out of practical sessions, covering a range of techniques from the basic to the more advanced. It also provides a solid grounding in wider transferable skills such as teamwork, using information technology, communicating information and study skills.
Published: 2017

193. Monte-Carlo Simulation-Based Statistical Modeling

Author: Ding-Geng (Din) Chen, John Dean Chen, Ding-Geng (Din) Chen, and John Dean Chen
Subjects: Mathematical statistics, Monte Carlo method
Abstract: This book brings together expert researchers engaged in Monte-Carlo simulation-based statistical modeling, offering them a forum to present and discuss recent issues in methodological development as well as public health applications. It is divided into three parts, with the first providing an overview of Monte-Carlo techniques, the second focusing on missing data Monte-Carlo methods, and the third addressing Bayesian and general statistical modeling using Monte-Carlo simulations. The data and computer programs used here will also be made publicly available, allowing readers to replicate the model development and data analysis presented in each chapter, and to readily apply them in their own research. Featuring highly topical content, the book has the potential to impact model development and data analyses across a wide spectrum of fields, and to spark further research in this direction.
Published: 2017

194. Quantifying the contribution of recessive coding variation to developmental disorders

Author: Sally Ann Lynch, Pradeep C. Vasudevan, Wendy D Jones, Hilary C. Martin, John Dean, James Stephenson, Sarju G. Mehta, Elena Prigmore, Katie Johnson, Michael Parker, Patrick J. Short, Jenny Morton, Mari Niemi, Miranda Splitt, Matthew E. Hurles, Rachel Horton, Joanna Kaplanis, Michael Wright, David R. FitzPatrick, Jeremy F. McRae, Elizabeth J. Radford, Diana Johnson, Jeffrey C. Barrett, Alice Hulbert, Caroline F. Wright, Juliet Handsaker, Meena Balasubramanian, Peter D. Turnpenny, Giuseppe Gallone, Dhavendra Kumar, Nadia Akawi, and Helen V. Firth
Subjects: Disease gene, Genetics, 0303 health sciences, Biology, Compound heterozygosity, Penetrance, 3. Good health, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Bonferroni correction, New disease, Genotype, symbols, Polygenic risk score, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: Large exome-sequencing datasets offer an unprecedented opportunity to understand the genetic architecture of rare diseases, informing clinical genetics counseling and optimal study designs for disease gene identification. We analyzed 7,448 exome-sequenced families from the Deciphering Developmental Disorders study, and, for the first time, estimated the causal contribution of recessive coding variation exome-wide. We found that the proportion of cases attributable to recessive coding variants is surprisingly low in patients of European ancestry, at only 3.6%, versus 50% of cases explained by de novo coding mutations. Surprisingly, we found that, even in European probands with affected siblings, recessive coding variants are only likely to explain ~12% of cases. In contrast, they account for 31% of probands with Pakistani ancestry due to elevated autozygosity. We tested every gene for an excess of damaging homozygous or compound heterozygous genotypes and found three genes that passed stringent Bonferroni correction: EIF3F, KDM5B, and THOC6. EIF3F is a novel disease gene, and KDM5B has previously been reported as a dominant disease gene. KDM5B appears to follow a complex mode of inheritance, in which heterozygous loss-of-function variants (LoFs) show incomplete penetrance and biallelic LoFs are fully penetrant. Our results suggest that a large proportion of undiagnosed developmental disorders remain to be explained by other factors, such as noncoding variants and polygenic risk.
Published: 2017
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195. A mutation in theLMOD1actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

Author: Yui Bong Alexander Wan, Yukiko Isekame, Jose Antonio Aragon-Martin, Daniel P. S. Osborn, Louise Benarroch, Maria Teresa Tome Esteban, Jaipreet Bharj, Guilleame Jondeau, Marjan Jahangiri, Anand Saggar, James Sneddon, Dongchuan Guo, Catherine Boileau, Elizabeth M. C. Fisher, Ellen S. Regalado, Alberto Smith, John Dean, Anne H. Child, Michael A. Simpson, Elijah R. Behr, and Dianna M. Milewicz
Subjects: Proband, Genetics, medicine.anatomical_structure, Mutation (genetic algorithm), Myosin, medicine, Missense mutation, Smooth muscle contraction, Biology, Allele, Aortic arches, Exome
Abstract: We describe a mutation inLMOD1, which predisposes individuals to thoracic aortic aneurysms and dissections in a large multi-generation British family. Exome variant profiles for the proband and two distantly related affected relatives were generated and a rare protein-altering, heterozygous variant was identified, present in all the exome-sequenced affected individuals. The allele c.1784T>C, p.(V595A) inLMOD1is located in a known actin-binding WH2 domain and is carried by all living affected individuals in the family.LMOD1was further assessed in a consecutive series of 98 UK TAAD patients and one further mutation was found, yielding an incidence of ∼2% in our study group. Assessment ofLMOD1in international TAAD cohorts discovered nine other missense variants of which three were classed as likely pathogenic.Validation ofLMOD1was undertaken using a zebrafish animal model. Knock-down of bothlmod1aandlmod1bparalogs using morpholino oligonucleotides showed a reproducible abnormal phenotype involving the aortic arches under off-target controls. Injection of the humanLMOD1c.1784T>C, p.(V595A) mutation demonstrated a likely dominant negative effect and illustrated a loss of function cause.Mutations found in the WH2 actin-binding domain ofLMOD1may delay actin polymerization and therefore compromise actin length, dynamics and interaction with myosin in the smooth muscle contraction pathway.
Published: 2017

196. Psychotropic Medication and Substance Use during Pregnancy by Women with Severe Mental Illness

Author: Kate Brameld, John Dean, Vera A. Morgan, Assen Jablensky, and Jennifer Griffith
Subjects: medicine.medical_specialty, medical record linkage, Poison control, Suicide prevention, Occupational safety and health, 03 medical and health sciences, psychotropic medication, 0302 clinical medicine, 5. Gender equality, Injury prevention, medicine, Psychiatric hospital, 030212 general & internal medicine, Psychiatry, Original Research, Pregnancy, business.industry, demographic factors, medicine.disease, Mental illness, mental illness, 030227 psychiatry, 3. Good health, Psychiatry and Mental health, pregnancy, business, hospitalization, Diagnosis of schizophrenia
Abstract: Background Sociodemographic factors, alcohol and drug intake, and maternal health are known to be associated with adverse outcomes in pregnancy for women with severe mental illness in addition to their use of psychotropic medication. In this study, we describe the demographic characteristics of women hospitalized for severe mental illness along with their use of medication and other drugs during the pregnancy period. Methods A clinical case note review of women with psychosis who were hospitalized at the State Psychiatric Hospital in Western Australia during 1966–1996, gave birth between 1980 and 1992, and received psychiatric treatment during the pregnancy period. The mother’s clinical information was available from the case notes and the midwives record. The demographic characteristics of the mothers were described together with their hospitalization pattern and their medication and substance use during the pregnancy period. Results A total of 428 mothers with a history of severe mental illness were identified who gave birth during 1980–1992. Of these, 164 mothers received psychiatric care during the pregnancy period. One hundred thirty-two had taken psychotropic medication during this period. Mothers who were married, of aboriginal status or living in regional and remote areas appeared less likely to be hospitalized during the pregnancy period, while older mothers and those with a diagnosis of schizophrenia were more likely to be hospitalized. The number of mothers taking psychotropic medication in the first trimester of pregnancy was reduced compared to the previous 6 months. The decline in the number taking substances over the same period was not significant. In all, 16% of the women attempted suicide during the pregnancy period and 10% non-suicidal self-injury. Conclusion The women demonstrate a pattern of decreased use of psychotropic medication use from the period before pregnancy to the first trimester of pregnancy. Our data highlight the importance of women with severe mental illness receiving regular ongoing monitoring and support from their psychiatrist during pregnancy regarding the level of medication required as well as counseling with regard to substance use, non-suicidal self-injury, and attempted suicide.
Published: 2017

197. Erratum to: Monte-Carlo Simulation-Based Statistical Modeling

Author: John Dean Chen and Ding-Geng Chen
Subjects: Computer science, Monte Carlo method, Statistical model, Statistical physics
Published: 2017

198. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A

Author: Francesca Mari, Albertien M. Van Eerde, Bernd Wollnik, Krystyna Chrzanowska, Bregje Van Bon, Yoshinori Tsurusaki, Dagmar Wieczorek, and John Dean
Subjects: Hypertrichosis, Mutation, medicine.medical_specialty, Pathology, Biology, medicine.disease, medicine.disease_cause, Dermatology, Intellectual disability, Micrognathism, Genetics, medicine, SMARCB1, Craniofacial, Congenital Malformation Syndrome, Coffin–Siris syndrome, Genetics (clinical)
Abstract: Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SMARCA4 (11%), SMARCE1 (2%), ARID1A (7%), ARID1B (65%), and PHF6 (2%). We review genotype-phenotype correlation of all previously reported patients with mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A through reassessment of their clinical and molecular findings. Cardinal features of CSS included variable degrees of intellectual disability (ID) predominantly affecting speech, sucking/feeding difficulty, and craniofacial (thick eyebrows, long eyelashes), digital (hypoplastic 5th fingers or toes, hypoplastic 5th fingernails or toenails), and other characteristics (hypertrichosis). In addition, patients with SMARCB1 mutations had severe neurodevelopmental deficits including severe ID, seizures, CNS structural abnormalities, and no expressive words as well as scoliosis. Especially, those with a recurrent mutation "p.Lys364del" represented strikingly similar phenotypes including characteristic facial coarseness. Patients with SMARCA4 mutations had less coarse craniofacial appearances and behavioral abnormalities. Patients with SMARCE1 mutations had a wide spectrum of manifestations from severe to moderate ID. Patients with ARID1A also had a wide spectrum of manifestations from severe ID and serous internal complications that could result in early death to mild ID. Mutations in SMARCB1, SMARCA4, and SMARCE1 are expected to exert dominant-negative or gain-of-function effects, whereas those in ARID1A are expected to exert loss-of-function effects.
Published: 2014

199. Proliferation of community exercise programs with limited evidence and expertise: Safety implications

Author: John Dean, Filipe Melo, Josefa Domingos, and Catarina Godinho
Subjects: medicine.medical_specialty, Parkinson's disease, business.industry, 030229 sport sciences, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), Limited evidence, Intensive care medicine, business, 030217 neurology & neurosurgery
Published: 2018

200. Update from RCP Quality Improvement: making quality improvement mainstream for physicians and teams

Author: John Dean
Subjects: 030213 general clinical medicine, Medical education, Quality management, News and Updates, media_common.quotation_subject, education, Patient care, 03 medical and health sciences, 0302 clinical medicine, Mainstream, Professional association, Quality (business), 030212 general & internal medicine, Business, Service improvement, media_common
Abstract: In this journal in 2016 the launch of the Royal College of Physicians’ (RCP's) Quality Improvement Hub was reported, along with the rationale for this.1 More recently, the final report on the RCP's Future Hospital Programme, Delivering the Future Hospital , identified that there is a need for the RCP to support service improvement much more widely, in a way which is patient-centred and physician-led.2 Professional societies like the RCP have an important role in making quality improvement a core part of professionalism. This should be done through: Following a period of initial exploration and development, the RCP Quality Improvement Hub has become RCP Quality Improvement (RCPQI). It is now building on the considerable learning of the Future Hospital Programme to support physicians and their teams to deliver improvements in services and the quality of patient care. RCPQI aims to
Published: 2018

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