Results 111 to 120 of about 500,299 (305)

Hearing Screening for Congenital CytoMegaloVirus—Exploring Parents’ Experiences of Completing Targeted Congenital Cytomegalovirus Screening at the Time of Their Infants’ Newborn Hearing Screening

Journal of Clinical Medicine
Background/Objectives: Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-viral treatment where clinically appropriate. International guidelines recommend cCMV screening for infants
Emma Webb, Jan Hodgson, Alanna N. Gillespie, Cheryl A. Jones, Zeffie Poulakis, Janis Wong, Valerie Sung   +6 more
openaire   +2 more sources

Cross sectional, community based study of care of newborn infants in Nepal

, 2002
Objective To determine home based newborn care practices in rural Nepal in order to inform strategies to improve neonatal outcome.Design Cross sectional, retrospective study using structured interviews.Setting Makwanpur district, Nepal.Participants 5411 ...
Osrin, D, Shtestha, BP, Costello, AMD, Tumbahangphe, KM, Manandhar, DS, Manandhar, MK, Standing, H, Shrestha, D, Mesko, N   +8 more
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Simulation and neonatal nursing education

, 2011
Our world is shrinking due to computerized linkages and the mobility of society, and information is shared rapidly around the world. Newborn and infant health issues are global ones. In efforts to acknowledge the international community, each Newborn and
Manal Kassab, Kenner, Carole A., Carole Kenner, Kassab, Manal I. (R17486)   +3 more
core   +1 more source

Midwifery basics. Infant feeding: Breastfeeding premature babies

, 2013
‘Infant feeding’ is the twelfth series of ‘Midwifery basics’ targeted at practising midwives. The aim of these articles is to provide information to raise awareness of the impact of the work of midwives on women’s experience and encourage midwives to
Marshall, Joyce
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

[Effect of oral and intramuscular vitamin K on the factors II, VII, IX, X, and PIVKA II in the infant newborn under 60 days of age].

Revista medica de Chile, 2002
Neonates on exclusive breast feeding that do not receive vitamin K at birth are at higher risk hemorrhagic disease of the newborn.To compare the effect of oral or intramuscular administration of vitamin K1 (VK1), on clotting factors II, VII, IX, X and PIVKA II, in children until the 60 days of age with exclusive breast feeding or mixed feeding.Forty ...
M, Arteaga-Vizcaíno, M, Espinoza Holguín, E, Torres Guerra, M, Diez-Ewald, J, Quintero, G, Vizcaíno, J, Estévez, N, Fernández   +7 more
openaire   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source