Results 131 to 140 of about 500,299 (305)
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley +1 more source
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Neurological examination of healthy term infants at ages 6 and 10 weeks in Tshwane District
South African Journal of PhysiotherapyBackground: Globally, there is a significant gap in detailed neurodevelopmental data for infants under 3 months, despite 6 weeks being identified a critical milestone for neuro-behavioural development.
Marna Nel +3 more
doaj +1 more source
Knowledge Summary 22: Reaching Child Brides [PDF]
, 2012 Child marriage affects 10 million girls under the age of 18 every year. The negative health and social impact of child marriage include higher rates of maternal and infant mortality, sexually transmitted infection, social separation, and domestic abuse
Partnership for Maternal, Newborn and Child Health
core
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Primates show a high degree of locomotor diversity that engenders similar variance in limb bone cross‐sectional geometry and bending strength: leaping primates have stronger hindlimb bones whereas suspensory species have stronger forelimb bones.
Angela M. Mossor +7 more
wiley +1 more source
Hypophosphatasia in a newborn infant
The Turkish Journal of Pediatrics, 1995 Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase.
G Tekinalp +4 more
doaj
Cultural beliefs and thermal care of infants: protecting South Asian and white British infants in Bradford from heat and cold [PDF]
, 2011 Maintaining an adequate body temperature is essential for human survival, yet infants are born with significant thermal challenges. Thermoregulation of infants is achieved through both physiological processes and through the thermal care behaviour of ...
CRONIN-DE-CHAVEZ, ANNA
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Twin pregnancies and the limits of the energetics of gestation and growth hypothesis
The Anatomical Record, EarlyView.Abstract The “Energetics of Gestation and Growth” (EGG) hypothesis proposes that human birth timing and the associated secondary altriciality of human newborns is determined by limits in maternal metabolic capacity. According to this model, labor is triggered when the increasing fetal energy requirements exceed the expectant mother's maximum sustained ...
Cédric Cordey +2 more
wiley +1 more source