Results 111 to 120 of about 12,315,142 (298)

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Economic Crises, Maternal and Infant Mortality, Low Birth Weight and Enrollment Rates: Evidence from Argentina’s Downturns [PDF]

Este estudio investiga el impacto de las recientes crisis en Argentina (incluyendo la grave recesión de 2001-2002) en la salud y la educación. La estrategia de identificación se basa en la covarianza entre los cambios en el PIB regional y los resultados ...
Pablo Glüzman, Luis Felipe López Calva, Guillermo Cruces   +2 more
core  

Academic attainment and special educational needs in extremely preterm children at 11 years of age : the EPICure Study [PDF]

, 2009
Aim: To assess academic attainment and special educational needs (SEN) in extremely preterm (EP) children in middle childhood. Methods: Of 307 EP (=25 weeks) survivors born in the UK and Ireland in 1995, 219 (71%) were re-assessed at 11 years, with a
Hennessy, Enid M., Wolke, Dieter, Johnson, Samantha J., Smith, R. (Rebecca), Trikic, Rebecca, Marlow, Neil   +5 more
core   +1 more source

Survival of extremely low-birth-weight infants

South African Journal of Child Health, 2013
Objectives. Survival of extremely low-birth-weight (ELBW) infants in a resource-limited public hospital setting is still low in South Africa. is study aimed to establish the determinants of survival in this weight category of neonates, who, owing to limited intensive care facilities, were not mechanically ventilated.Design.
Kalimba, E M, Ballot, D E
openaire   +3 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Prenatal Drug Use and the Production of Infant Health [PDF]

We estimate the effect of illicit drug use during pregnancy on low birth weight. We use data from a national longitudinal study of urban parents that includes post-partum interviews with mothers, hospital medical record data on the mother and newborn ...
Dhaval Dave, Nancy E. Reichman, Hope Corman, Kelly Noonan   +3 more
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Assessment of survival and neonatal morbidity rates of very low birth weight infants in Türkiye: Turkish Neonatal Society SECRETS (TNS-SECRETS) study

Scientific Reports
This prospective multicenter study of the Turkish Neonatal Society includes data from a large cohort of very low birth weight (VLBW) infants from 78 referral centers in Türkiye.
M. Cetinkaya, S. Memur, E. Koc, A. Y. Bas, Turkish Neonatal Society SECRETS Study Group   +4 more
doaj   +1 more source