Fluid therapy in paediatric trauma

Autor: Cls Turner, Aer Young

Publikováno v: Trauma. 4:169-175

Trauma is the most common cause of death in children over one year of age. Hypovolaemic shock is a life-threatening consequence following trauma. Hypovolaemia may be difficult to identify in children, with hypotension being a late and critical sign.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c39c933356c60cacc88484625e6ee488
https://doi.org/10.1191/1460408602ta238oa

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Autor: Greene D; Department of Medicine, University of Cambridge, Cambridge, UK.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Pirri D; National Heart and Lung Institute, Imperial College London, London, UK., Frudd K; National Heart and Lung Institute, Imperial College London, London, UK.; University College London Institute of Ophthalmology, University College London, London, UK., Sackey E; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Giese APJ; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Ramzan K; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riaz S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Yamanaka I; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan., Boeckx N; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals National Health Service Trust International Centre for Life, Newcastle upon Tyne, UK., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Harvengt J; Centre for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.; Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan., Mansour S; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; South West Thames Regional Genetics Service, St. George's University Hospitals National Health Service Foundation Trust, London, UK., Masuno M; Department of Medical Genetics, Kawasaki Medical School Hospital, Okayama, Japan., Ohata T; Okinawa Chubu Hospital, Okinawa, Japan., Stewart H; Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Taibah K; Ear Nose and Throat Medical Centre, Riyadh, Saudi Arabia., Turner CLS; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK., Imtiaz F; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Division of Molecular Pathology and Department of Internal Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Ostergaard P; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Loeys BL; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Morisaki H; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan., Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Birdsey GM; National Heart and Lung Institute, Imperial College London, London, UK., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; South West National Health Service Genomic Medicine Service Alliance, Bristol, UK., Turro E; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. ernest.turro@mssm.edu.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.

Publikováno v: Nature medicine [Nat Med] 2023 Mar; Vol. 29 (3), pp. 679-688. Date of Electronic Publication: 2023 Mar 16.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Autor: Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Autor: Tuke MA; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Ruth KS; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Wood AR; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Beaumont RN; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Tyrrell J; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Jones SE; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Yaghootkar H; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Turner CLS; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, UK., Donohoe ME; Macleod Diabetes & Endocrine Centre, Royal Devon and Exeter Hospital, Exeter, UK., Brooke AM; Macleod Diabetes & Endocrine Centre, Royal Devon and Exeter Hospital, Exeter, UK., Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK., Freathy RM; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Weedon MN; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Frayling TM; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Murray A; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK. A.Murray@exeter.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 877-886. Date of Electronic Publication: 2018 Sep 05.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Autor: Skraban CM; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wells CF; Clinical Genetics Group, Department of Women's & Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Markose P; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Nesbitt AI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N1N4, Canada., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Bernat JA; Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Bird LM; Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA 92123, USA., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., de Brouwer APM; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Gibson KM; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Grand K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Goldenberg A; Service de Génétique, Centre Hospitalier Universitaire de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, 76031 Rouen, France., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N1N4, Canada., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Kempers M; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Kinning E; West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland G51 4TF, UK., Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Owens MM; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK., Payne K; Division of Child Neurology, Riley Hospital for Children, Indiana University Health Physicians, Indianapolis, IN 46202, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Stocco A; INTEGRIS Baptist Child Neurology Clinic, Oklahoma City, OK 73112, USA., Turner CLS; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter EX1 2ED, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Walsh LE; Division of Child Neurology, Riley Hospital for Children, Indiana University Health Physicians, Indianapolis, IN 46202, USA., Warner TC; Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, FL 32806, USA., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany., Wilkens AB; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Robertson SP; Clinical Genetics Group, Department of Women's & Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA; Department of Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 USA., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Deardorff MA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: deardorff@email.chop.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Jul 06; Vol. 101 (1), pp. 139-148.