Using community health workers to refer pregnant women and young children to health care facilities in rural West Bengal, India: A prospective cohort study.

Autor: Abram L Wagner, Lu Xia, Aparna Ghosh, Sandip Datta, Priyamvada Pandey, Sujay Santra, Sharmila Chattopadhyay, Uddip Nandi, Tanusree Mazumder, Sucheta Joshi, Joyojeet Pal, Bhramar Mukherjee

Publikováno v: PLoS ONE, Vol 13, Iss 6, p e0199607 (2018)

BACKGROUND:Community health workers (CHWs) have been placed in many rural areas in India to increase villagers' connections to basic preventive health care. In this study, we describe how pregnant women and mothers of young children react when CHWs i

Externí odkaz: https://doaj.org/article/591b0c88aff54d30b9b1df777c657c24

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Autor: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo

Publikováno v: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090
https://pubmed.ncbi.nlm.nih.gov/25262651

Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort

Autor: Kelly G, Knupp, Erin, Leister, Jason, Coryell, Katherine C, Nickels, Nicole, Ryan, Elizabeth, Juarez-Colunga, William D, Gaillard, John R, Mytinger, Anne T, Berg, John, Millichap, Douglas R, Nordli, Sucheta, Joshi, Renée A, Shellhaas, Tobias, Loddenkemper, Dennis, Dlugos, Elaine, Wirrell, Joseph, Sullivan, Adam L, Hartman, Eric H, Kossoff, Zachary M, Grinspan, Lorie, Hamikawa, Shaun A, Hussain

Publikováno v: Epilepsia, vol 57, iss 11

SummaryObjective Infantile spasms (IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e524d7b77431e8a86d8f27f2b082310
https://pubmed.ncbi.nlm.nih.gov/29225541

The epilepsy phenome/genome project

Autor: Bassel, Abou-Khalil, Brian, Alldredge, Jocelyn, Bautista, Sam, Berkovic, Judith, Bluvstein, Alex, Boro, Gregory, Cascino, Damian, Consalvo, Sabrina, Cristofaro, Patricia, Crumrine, Orrin, Devinsky, Dennis, Dlugos, Michael, Epstein, Robyn, Fahlstrom, Miguel, Fiol, Nathan, Fountain, Kristen, Fox, Jacqueline, French, Catharine, Freyer Karn, Daniel, Friedman, Eric, Geller, Tracy, Glauser, Simon, Glynn, Kevin, Haas, Sheryl, Haut, Jean, Hayward, Sandra, Helmers, Sucheta, Joshi, Andres, Kanner, Heidi, Kirsch, Robert, Knowlton, Eric, Kossoff, Rachel, Kuperman, Ruben, Kuzniecky, Daniel, Lowenstein, Shannon, McGuire, Paul, Motika, Gerard, Nesbitt, Edward, Novotny, Ruth, Ottman, Juliann, Paolicchi, Jack, Parent, Kristen, Park, Annapurna, Poduri, Neil, Risch, Lynette, Sadleir, Ingrid, Scheffer, Renee, Shellhaas, Elliott, Sherr, Jerry J, Shih, Shlomo, Shinnar, Rani, Singh, Joseph, Sirven, Michael, Smith, Joe, Sullivan, Liu Lin, Thio, Anu, Venkat, Eileen, Vining, Gretchen, von Allmen, Judith, Weisenberg, Peter, Widdess-Walsh, Andrew, Yourich

Publikováno v: Clinical trials (London, England). 10(4)

Background Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c0fed6c19f938e92593466c0cc3bbd
https://pubmed.ncbi.nlm.nih.gov/23818435