Results 91 to 100 of about 333,865 (295)

Progeny, December 2003, Vol. 19, no. 4 [PDF]

, 2003
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Parental brain: cerebral areas activated by infant cries and faces. A comparison between different populations of parents and not. [PDF]

, 2015
Literature about parenting traditionally focused on caring behaviors and parental representations. Nowadays, an innovative line of research, interested in evaluating the neural areas and hormones implicated in the nurturing and caregiving responses, has ...
DE PALO, Francesca, Piallini, Giulia, Simonelli, Alessandra   +2 more
core   +2 more sources

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Inequalities in maternity care and newborn outcomes: one-year surveillance of births in vulnerable slum communities in Mumbai [PDF]

, 2009
Background: Aggregate urban health statistics mask inequalities. We described maternity care in vulnerable slum communities in Mumbai, and examined differences in care and outcomes between more and less deprived groups.
Bapat, U., Barnett, S., Costello, A., Das, S., Fernandez, A., More, N., Osrin, D.   +6 more
core   +3 more sources

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Tracking and debriefing birth data at scale: A mobile phone application to improve obstetric and neonatal care in Bihar, India. [PDF]

, 2018
AimThis analysis assessed changes over time in skill and knowledge related to the use of evidence-based practices associated with quality of maternal and neonatal care during a nurse midwife mentoring intervention at primary health clinics (PHCs) in ...
Bagchi, Kingshuk, Christmas, Amelia, Cohen, Susanna R, Das, Aritra, Dyer, Jessica, Mahapatra, Tanmay, Ranjan, Vikash, Shah, Malay Bharat, Spindler, Hilary, Sterling, Mona, Walker, Dilys   +10 more
core   +2 more sources

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Rh Negative Status and Isoimmunization Update: A Case-Based Approach to Care [PDF]

, 2003
Prior to the 1970s and the advent of Rho (D) immune globulin (RIG) for Rh negative women, hemolytic disease of the newborn led to morbidity, long-term disabilities, and mortality.
Hanson, Lisa, Harrod, Kathryn Shisler, Heywood, Patricia, VandeVusse, Leona   +3 more
core   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source