Results 81 to 90 of about 35,899 (261)

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

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

E-Prem checklist-driven strategy to improve outcomes in extremely preterm and low birth weight infants: a quasi-experimental study at a national referral hospital in Indonesia

BMJ Open
Objectives This study aims to assess how implementing a checklist for managing extremely preterm or extremely low birth weight infants can reduce mortality rates and morbidities.Design A quasi-experimental, before-and-after study.Setting Neonatal ...
Rinawati Rohsiswatmo, Tejasvi Chaudhari, R Adhi Teguh Perma Iskandar, Putri Maharani Tristanita Marsubrin, Kanya Lalitya Jayanimitta Sugiyarto, Jessica Sylvania Oswari, Rosalina Dewi Roeslani, Distyayu Sukarja, Muhamad Azharry Rully Sjahrullah, Ahmad Kautsar, Dian Anggur Yulianti   +10 more
doaj   +1 more source

The Survival of a 580 g Infant Conceived by In vitro [PDF]

International Journal of Fertility and Sterility, 2011
With recent improvements in maternal fetal medicine and neonatal intensive care, the survival rates of extremely low birth weight infants have been improved.
Marzieh Shiva, Mohammad Reza Shiva, Ladan Mohammadi Yeganeh   +2 more
doaj  

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

The morphology of the oval window in Paranthropus robustus compared to humans and other modern primates

The Anatomical Record, EarlyView.
Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley   +1 more source

Patient management and principles of nutritional therapy in premature infants at the pediatric department [PDF]

РМЖ. Мать и дитя
L.A. Fedorova St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation The advancement of perinatal care and neonatal technologies has led to an increase in the premature infant survival rate, including those with ...
L.A. Fedorova
doaj