Development and validation of a prognostic model to predict birth weight: individual participant data meta-analysis

Autor: François Goffinet, Paul T Seed, Jørn Olsen, Renato T Souza, Louise C Kenny, José Guilherme Cecatti, Ben W Mol, Jane E Norman, Jun Zhang, Ana Pilar Betran, Kym I E Snell, Richard D Riley, Seppo Heinonen, Anne Eskild, Fionnuala M McAuliffe, Mark Brown, Henk Groen, Alice Rumbold, Kerstin Klipstein-Grobusch, Line Sletner, Anne Karen Jenum, Fionnuala Mone, Hema Mistry, Eric A P Steegers, Shigeru Saito, Arri Coomarasamy, Fabio Facchinetti, Lucilla Poston, Shakila Thangaratinam, SeonAe Yeo, Joyce L Browne, Eva Pajkrt, Wessel Ganzevoort, Kjell Salvesen, Helena Teede, Lucy Chappell, Maria Makrides, Guillermo Carroli, Javier Zamora, Pisake Lumbiganon, Asma Khalil, John Kingdom, Gustaaf Dekker, Robert Gibson, Lionel Carbillon, John Allotey, Dyuti Coomar, Jane West, Marleen Temmerman, Satoru Takeda, Federico Prefumo, Hannele Laivuori, Sohinee Bhattacharya, Sander M J van Kuijk, Lucinda Archer, Jenny Myers, Lisa M Askie, Sergio Ferrazzani, Melanie Smuk, Caroline A Crowther, Francesc Figueras, Lill Trogstad, Maureen Macleod, Claire T Roberts, François Audibert, Ary I Savitri, Lesley McCowan, Wendy S Meschino, Diane Farrar, Yves Giguère, Tianhua Huang, Hans Wolf, Tiziana Frusca, Silvia Salvi, Patrizia Vergani, Chie Nagata, George Daskalakis, Olav Lapaire, Enrico Ferrazzi, Baskaran Thilaganathan, Christopher Redman, Agustin Conde-Agudelo, Nelly Zavaleta, Josje Langenveld, Karlijn C Vollebregt, Jacques Massé, Francesca Crovetto, Mariana Widmer, Ignacio Herraiz, Alberto Galindo, Jean-Claude Forest, Stefan Verlohren, Luc Smits, Edouard Lecarpentier, Per Minor Magnus, Linda Gough, Alex Kwong, Akihide Ohkuchi, Fabricio Da Silva Costa, Athena P Souka, Rinat Gabbay-Benziv, Evan Sequeira, Rachel Katherine Morris, Ahmet A Baschat, Dewi Anggraini, Marleen van Gelder, Sadia Haqnawaz, Cuno SPM Uiterwaal, Annetine C Staff, Louise Bjoerkholt Andersen, Elisa Llurba Olive, Javier Arenas Ramírez, Peter A Zimmerman, Catherine Riddell, Joris van de Post, Sebastián E Illanes, Claudia Holzman, Pia M Villa, Luxmi Velauthar, Miriam van Oostwaard, Christina A Vinter, Camilla Haavaldsen, Inge Eisensee, Ernesto A Figueiró-Filho, Jacob A Lykke, Alfred Mbah, Gordon G S Smith, Read Salim, Annemarijne Adank, Rebecca E Allen, Jan Stener Jørgensen, Anthony O Odibo, Bassam G Haddad, Emily C Kleinrouweler, Ragnhild Bergene Skråstad, Kajantie Eero, Athanasios Pilalis, Lee Ann Hawkins

Publikováno v: BMJ Medicine, Vol 3, Iss 1 (2024)

Objective To predict birth weight at various potential gestational ages of delivery based on data routinely available at the first antenatal visit.Design Individual participant data meta-analysis.Data sources Individual participant data of four cohor

Externí odkaz: https://doaj.org/article/1abaafceeca044b6916e9151f830bd27

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Autor: Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a

Externí odkaz: https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d7

Feasibility of computerized working memory training in individuals with Huntington disease.

Autor: Mahsa Sadeghi, Emily Barlow-Krelina, Clare Gibbons, Komal T Shaikh, Wai Lun Alan Fung, Wendy S Meschino, Christine Till

Publikováno v: PLoS ONE, Vol 12, Iss 4, p e0176429 (2017)

Huntington disease (HD) is associated with a variety of cognitive deficits, with prominent difficulties in working memory (WM). WM deficits are notably compromised in early-onset and prodromal HD patients. This study aimed to determine the feasibilit

Externí odkaz: https://doaj.org/article/9e02f2fcb9e344d28ecc3ebc40801fd5

Effects of race and ethnicity on perinatal outcomes in high-income and upper-middle-income countries: an individual participant data meta-analysis of 2 198 655 pregnancies

Autor: Jameela Sheikh, John Allotey, Tania Kew, Borja M Fernández-Félix, Javier Zamora, Asma Khalil, Shakila Thangaratinam, Mali Abdollahain, Ary I. Savitri, Kjell Åsmund Salvesen, Sohinee Bhattacharya, Cuno S.P.M. Uiterwaal, Annetine C. Staff, Louise Bjoerkholt Andersen, Elisa Llurba Olive, George Daskalakis, Maureen Macleod, Baskaran Thilaganathan, Javier Arenas Ramírez, Jacques Massé, Francois Audibert, Per Minor Magnus, Line Sletner, Ahmet Baschat, Akihide Ohkuchi, Fionnuala M. McAuliffe, Jane West, Lisa M. Askie, Fionnuala Mone, Diane Farrar, Peter A. Zimmerman, Luc J.M. Smits, Catherine Riddell, John C. Kingdom, Joris van de Post, Sebastián E. Illanes, Claudia Holzman, Sander M.J. van Kuijk, Lionel Carbillon, Pia M. Villa, Anne Eskild, Lucy Chappell, Federico Prefumo, Luxmi Velauthar, Paul Seed, Miriam van Oostwaard, Stefan Verlohren, Lucilla Poston, Enrico Ferrazzi, Christina A. Vinter, Chie Nagata, Mark, Brown, Karlijn C. Vollebregt, Satoru Takeda, Josje Langenveld, Mariana Widmer, Shigeru Saito, Camilla Haavaldsen, Guillermo Carroli, Jørn Olsen, Hans Wolf, Nelly Zavaleta, Inge Eisensee, Patrizia Vergani, Pisake Lumbiganon, Maria Makrides, Fabio Facchinetti, Evan Sequeira, Robert Gibson, Sergio Ferrazzani, Tiziana Frusca, Ernesto A. Figueiró-Filho, Olav Lapaire, Hannele Laivuori, Jacob A. Lykke, Agustin Conde-Agudelo, Alberto Galindo, Alfred Mbah, Ana Pilar Betran, Ignacio Herraiz, Lill Trogstad, Gordon G.S. Smith, Eric A.P. Steegers, Read Salim, Tianhua Huang, Annemarijne Adank, Jun Zhang, Wendy S. Meschino, Joyce L. Browne, Rebecca E. Allen, Fabricio Da Silva Costa, Kerstin Klipstein-Grobusch, Jan Stener Jørgensen, Jean-Claude Forest, Alice R. Rumbold, Ben W. Mol, Yves Giguère, Wessel Ganzevoort, Anthony O. Odibo, Jenny Myers, SeonAe Yeo, Helena J. Teede, Francois Goffinet, Lesley McCowan, Eva Pajkrt, Bassam G. Haddad, Gustaaf Dekker, Emily C. Kleinrouweler, Édouard LeCarpentier, Claire T. Roberts, Henk Groen, Ragnhild Bergene Skråstad, Seppo Heinonen, Kajantie Eero, Louise C. Kenny, Dewi Anggraini, Athena Souka, Jose Cecatti, Ilza Monterio, Arri Coomarasamy, Melanie Smuk, Athanasios Pillalis, Francesca Crovetto, Renato Souza, Lee Ann Hawkins, Rinat Gabbay- Benziv, Richard Riley, Kym Snell, Lucinda Archer, Francesc Figuera, Marleen van Gelder

Publikováno v: The Lancet, 400(10368), 2049-2062. Elsevier Limited
The Lancet

Background: Existing evidence on the effects of race and ethnicity on pregnancy outcomes is restricted to individual studies done within specific countries and health systems. We aimed to assess the impact of race and ethnicity on perinatal outcomes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8363010151121483bd6d61bff5cace
http://hdl.handle.net/10852/101990

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

Autor: Kelly A. Metcalfe, Peter Ainsworth, Charis Eng, Andrea Eisen, Beth Y. Karlan, Tuya Pal, Pål Møller, Henry T. Lynch, Nadine Tung, Jan Lubinski, Wendy S. Meschino, Leigha Senter, Louise Bordeleau, Steven A. Narod, Ping Sun, Susan Armel, Ava Kwong, Jeffrey N. Weitzel

Publikováno v: British Journal of Cancer

Background Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d491e670ea4d459f3c63f329d010ab90
https://doi.org/10.1038/s41416-019-0446-1