Causes of death among young children of female sex workers in three sub-Saharan African countries: a cross-sectional exploratory investigation. [PDF]
Macias-Konstantopoulos WL +2 more
europepmc +1 more source
Diagnosis and Management of Human Cytomegalovirus Infection in the Mother, Fetus, and Newborn Infant
M. Revello, G. Gerna
semanticscholar +1 more source
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
The effect of infantile colic training given to parents on the neonatal infantile colic level and crying duration. [PDF]
Özdemir S +3 more
europepmc +1 more source
Issues in Health Care Meriting Particular Christian Concern - A Priority Issue: The Severely Defective Newborn [PDF]
Roy, David
core +1 more source
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
Early neonatal admissions with feeding difficulties to acute paediatric services at a tertiary paediatric hospital in England: sequential audits pre-COVID-19 and during the COVID-19 pandemic. [PDF]
Lee K +6 more
europepmc +1 more source
Pulmonary Fluid Balance in the Human Newborn Infant
O. Helve +3 more
semanticscholar +1 more source
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source

