Results 241 to 250 of about 1,481,989 (336)
Ketogenic diet for infantile epileptic spasms
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury +3 more
wiley +1 more source
Selective Nontreatment of Defective Newborns: An Ethical Analysis [PDF]
Johnson, Paul R.
core +1 more source
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat +15 more
wiley +1 more source
The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]
Verduci E +9 more
europepmc +1 more source
Abstract This article examines how mobility restrictions imposed by governments during the COVID‐19 pandemic intensified reproductive and mobility injustices. It traces shifting configurations of privilege and inequality within marginalized groups whose reproductive desires remain legally and socially unrecognized.
Sara L. Friedman
wiley +1 more source
Mapping the global implementation of parent-focused infant-centred and family-centred developmental care (IFCDC) principles: a scoping review protocol. [PDF]
Düzenli A +6 more
europepmc +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
Initial supplementary oxygen concentration for moderate-late preterm infants receiving respiratory support in the delivery room: study protocol for the multicenter, cluster-randomized, crossover AIROPLANE trial. [PDF]
Peart S +7 more
europepmc +1 more source

