Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Autor: Blayney GV; Fetal Medicine Department, Royal Jubilee Maternity Service, Belfast Health and Social Care Trust, Belfast, UK., Laffan E; Department of Radiology, Children' Health Ireland at Crumlin, Dublin, Ireland., Jacob PA; Northampton General Hospital, Northampton, UK., Baptiste CD; Columbia University, New York, New York, USA., Gabriel H; Praxis für Humangenetik Tübingen, Tübingen, Germany., Sparks TN; Department of Obstetrics, Gynaecology & Reproductive Sciences, University of California San Francisco, San Francisco, California, USA., Yaron Y; Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Norton ME; Department of Obstetrics, Gynaecology & Reproductive Sciences, University of California San Francisco, San Francisco, California, USA., Diderich K; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands., Wang Y; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chong K; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics & Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics & Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Saini N; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India., Pauta M; Insitut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), BCNatal, Barcelona, Spain., Borrell A; Insitut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), BCNatal, Barcelona, Spain., Gilmore K; Department of Obstetrics and Gynaecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Chandler NJ; North Thames Genomic Laboratory Hub, NHS Foundation Trust, London, UK., Allen S; West Midlands Regional Genetics Laboratory, South and Central Genomic Laboratory Hub, Birmingham, UK., Vora N; Department of Obstetrics and Gynaecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Noor A; Division of Diagnostic Medical Genetics, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Monaghan C; Fetal Medicine Department, Royal Jubilee Maternity Service, Belfast Health and Social Care Trust, Belfast, UK., Kilby MD; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Wapner RJ; Columbia University, New York, New York, USA., Chitty LS; North Thames Genomic Laboratory Hub, NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK., Mone F; Centre for Public Health, Queen's University Belfast, Belfast, UK.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 422-431. Date of Electronic Publication: 2023 Dec 06.

MALFORMATION RISKS OF ANTIEPILEPTIC DRUG MONOTHERAPIES IN PREGNANCY: AN UPDATE FROM THE UK AND IRELAND EPILEPSY AND PREGNANCY REGISTERS

Autor: Boyle, AJ, Digangi, A, Mottram, LJ, Hamid, U, McNamee, L, White, G, Cross, LJM, McNamee, J, O'Kane, C, McAuley, DM, Campbell, E, Kennedy, F, Russell, A, Smithson, WH, Parsons, L, Robertson, I, Irwin, B, Liggan, B, Delanty, N, Morrison, PJ, Hunt, SJ, Craig, J, Morrow, J, Major, EH, O'Connor, P, Mullan, B, Savage, EM, McCormick, D, McDonald, S, Moore, O, Stevenson, M, Cairns, AP, McKavanagh, P, Lusk, L, Ball, PA, Trinick, TR, Duly, E, Verghis, RM, Agus, AM, Walls, GW, McCusker, S, James, B, Orr, C, Hamilton, A, Smyth, A, Harbinson, MT, Donnelly, PM, Ling, P, MacPherson, J, McCrossan, L, Wethers, G, O'Neill, FA, Forty, L, Di Florio, A, Gordon-Smith, K, Fraser, C, Jones, L, Jones, I, Craddock, N, Smith, DJ, Murphy, L, McKenna, S, Shirley, D, Hodgins, N, Damkat-Thomas, L, Shamsian, N, Yew, P, Lewis, H, Khan, K, Cooke, I, Hunt, S, McCauley, M, Mark, D, Leonard, C, Breen, H, Graydon, R, O'Gorman, C, Kirk, S, Blayney, GV, Hardy, CL, Stratton, S, Bhat, S, Cash, J, Cadden, I, Kennedy, P, Ellis, P, Collins, A, Dargin, A, McDougall, N, McQuillan, LM, Graham, UM, Lindsay, JR, Warnock, M, Campbell, B, Macauley, G, Hegarty, S, Spence, RAJ, Gordon, E, Boyd, K, Weir, CD, Wallace, IR, McEvoy, CT, Hunter, SJ, Hamill, LL, Ennis, CN, Woodside, JV, Bell, PM, Young, IS, McKinley, MC, Spence, A, Finnegan, S, Flannery, T, Harty, J, Haughey, N, Booth, K, Jeganathan, R, Leeper, AD, Dixon, JM, Harrison, D

Publikováno v: The Ulster Medical Journal

Introduction Platelet activation has a role in the pathogenesis of acute lung injury (ALI). Observational data suggests aspirin treatment may prevent the development of ALI in critically ill patients. However, it is unknown if aspirin usage alters ou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::9b21419072035b1e7a0f1d317da13323
http://europepmc.org/articles/PMC4920486

Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.

Autor: Abulí, Anna, Antolín, Eugenia, Borrell, Antoni, Garcia-Hoyos, Maria, Santiago, Fe García, Manjón, Irene Gómez, Maíz, Nerea, González, Cristina González, Rodríguez-Revenga, Laia, Palafoll, Irene Valenzuena, Suela, Javier

Publikováno v: Journal of Medical Genetics; Aug2024, Vol. 61 Issue 8, p727-733, 7p

Enabling Technologies for Gynecologic Vaginal Surgery: A Systematic Review.

Autor: Balgobin, Sunil, Balk, Ethan M., Porter, Anne E., Misal, Meenal, Grisales, Tamara, Meriwether, Kate V., Jeppson, Peter C., Doyle, Paula J., Aschkenazi, Sarit O., Miranne, Jeannine M., Hobson, Deslyn T., Howard, David L., Mama, Saifuddin, Gupta, Ankita, Antosh, Danielle D.

Publikováno v: Obstetrics & Gynecology; Apr2024, Vol. 143 Issue 4, p524-537, 14p