Electroretinograms, however, are usually not detectable in Leber congenital amaurosis, and signals from a small region treated with gene therapy might be lost in noise. For this study, 7 investigators ...

This increment, when added to the usual number of major congenital malformations expected in a sample of 453 children, would increase the total from 10 (2.2 per cent of 453) to 16. There were ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

With the advent of improved antenatal imaging over the past 10 years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the ...

Background Pulmonary hypertension in idiopathic pulmonary fibrosis (IPF) is indicative of a poor prognosis. Recent evidence suggests that tetrahydrobiopterin (BH4), the cofactor of nitric oxide ...

Pulmonary arterial hypertension (PAH) is commonly associated with congenital heart disease (CHD) and relates to type of the underlying cardiac defects and repair history. Large systemic to pulmonary ...

However, babies and children can be born with cataracts, or they may develop them as they age. A congenital cataract causes the same symptoms as adult cataracts—a clouding in the lens of the eye that ...

Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disorder that is characterized by the abnormal accumulation of surfactant within the alveoli. Alveolar macrophages (AMs) have been identified ...

Shorter reviews are published as "Clinical Commentaries" or "Pulmonary Perspectives". These are generally focused on a more limited area and advance a concerted opinion about care for a specific ...

Objectives To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. Design Register-based ...