Results 41 to 50 of about 334,891 (194)

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

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

Midwifery basics. Infant feeding: Managing baby related challenges [PDF]

, 2013
Infant feeding: is the twelfth series of ‘Midwifery basics’ targeted at practising midwives. It aims to provide information to raise awareness of the impact of the work of midwives on women’s experience and encourage midwives to seek further information ...
Marshall, Joyce
core  

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Screening forCronobacterSpecies in Powdered and Reconstituted Infant Formulas and from Equipment Used in Formula Preparation in Maternity Hospitals [PDF]

, 2013
Background/Aims: Cronobacter spp. have been identified as being of considerable risk to neonates. The occurrence of organism in infant formulas is therefore of considerable interest. Methods: The occurrence of Cronobacter spp.
Amstalden Junqueira, VC, da Silva, N, Forsythe, S, Kajsik, M, Pereira, JL, Siqueira Santos, RF   +5 more
core   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]

, 2013
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core   +1 more source

Inhaled PGE1 in neonates with hypoxemic respiratory failure: two pilot feasibility randomized clinical trials. [PDF]

, 2014
BackgroundInhaled nitric oxide (INO), a selective pulmonary vasodilator, has revolutionized the treatment of neonatal hypoxemic respiratory failure (NHRF). However, there is lack of sustained improvement in 30 to 46% of infants.
Ambalavanan, Namasivayam, Bara, Rebecca, Cotten, C Michael, Das, Abhik, Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, Garg, Meena, Higgins, Rosemary D, Keszler, Martin, Klein, Jonathan M, Lakshminrusimha, Satyan, Malian, Monica, Nelin, Leif D, Ohls, Robin, Saha, Shampa, Sanchez, Pablo J, Shankaran, Seetha, Sood, Beena G, Van Meurs, Krisa P, Wallace, Dennis   +18 more
core   +2 more sources