Interferon lambda protects the female reproductive tract against Zika virus infection [PDF]
Zika virus infections can cause devastating congenital birth defects but the underlying interactions with the host immune system are not well understood.
Arora, Nitin +7 more
core +3 more sources
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
core +1 more source
The development of a new measure of quality of life for children with congenital cardiac disease [PDF]
The purpose of the study was to develop a questionnaire measuring health-related R1 quality of life for children and adolescents with congenital heart disease, the ConQol, that would have both clinical and research applications.
Birks, Y +8 more
core +1 more source
The use of Macitentan in Fontan circulation: a case report
Background The Fontan circulation, a result of a palliative procedure in patients with single systemic ventricles, is defined by chronically elevated pulmonary vascular resistance.
Polyvios Demetriades +4 more
doaj +1 more source
Congenital muscular dystrophy: from muscle to brain. [PDF]
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
core +1 more source
Risk factors for hospital admission with RSV bronchiolitis in England: a population-based birth cohort study. [PDF]
OBJECTIVE: To examine the timing and duration of RSV bronchiolitis hospital admission among term and preterm infants in England and to identify risk factors for bronchiolitis admission.
A Bottle +35 more
core +7 more sources
A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L +3 more
core +1 more source
Cardiac index in adults with repaired tetralogy of Fallot: Are we missing the forest for the trees?
Background: Many cardiac parameters have been associated with poor outcomes in patients with repaired tetralogy of Fallot (TOF) and significant residual pulmonary regurgitation (PR).
Maria Fadous +7 more
doaj +1 more source
Objective: The number of patients with congenitally corrected transposition of the great arteries (ccTGA) surviving to old age is increasing. This study therefore sought to characterize 'geriatric' systemic right ventricle (sRV) in terms of clinical ...
Ewa Kowalik +6 more
doaj +1 more source
A systematic review and meta-analyses of pregnancy and fetal outcomes in women with multiple sclerosis: a contribution from the IMI2 ConcePTION project. [PDF]
Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited.
A Haghikia +20 more
core +1 more source

