AIM To determine whether abnormal transvascular protein flux can be measured with positron emission tomography (PET) in neonates with respiratory distress syndrome (RDS). METHODS Fourteen infants with normal gas exchange (non-RDS group) underwent one PET measurement and 12 infants with RDS (the RDS group) underwent two measurements of protein flux, as determined by the pulmonary transcapillar...

BACKGROUND AND OBJECTIVE Neonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability. METHODS Using next-generation, pooled sequencing of race-stratified DNA samples from infants ≥34 weeks' gestation with and without RDS (n = 513) and from a Missouri population-based cohort (n = 1066), we scann...

BACKGROUND Although respiratory distress syndrome (RDS) is considered a disease of prematurity, there is evidence to suggest heterogeneity between early and late gestation RDS. We examined the epidemiologic features of RDS occurring at early and late gestation. METHODS We conducted a retrospective cohort study including live births in the United States in 2005-06, with information obtained fr...

Muller radial glia accumulate glial fibrillary acid protein (GFAP) in response to retinal injuries. We have studied the changes in cellular localization of GFAP in genetically caused retinal dystrophy in strains of cat and mouse: Abyssinian cats with progressive retinal dystrophy, and mice homoand heterozygous for the retinal degeneration (rd) and retinal degeneration slow (rds) genes. The foll...

Respiratory distress syndrome (RDS) is seen primarily in the preterm neonate and is due mostly to pulmonary surfactant deficiency. Lung atelectasis leads to ventilationperfusion mismatching, hypoxia, and eventual respiratory failure in the untreated infant who has RDS. RDS is diagnosed by physical findings consistent with respiratory distress and characteristic radiographic findings. Treatment ...

We have studied a respiratory distress syndrome (RDS) occurring in newborn calves of the Belgian White and Blue (BWB) breed that represents the large majority of beef cattle in Belgium. Pulmonary surfactant isolated from 14 BWB newborn calves that died from RDS and from 7 healthy controls was analysed for composition and surface activity. An extremely low content or, in some instances, an absen...

Dopamine metabolism was studied in dystrophic retinal degeneration slow (rds) mice which carry a mutation in the rds/peripherin gene. RDS mutations in humans cause several forms of retinal degeneration. Dopamine synthesis and utilization were analyzed at various time points in the diurnal cycle in homozygous rds/rds retinas which lack photoreceptor outer segments and heterozygous rds/+ retinas ...

BACKGROUND The European Union defines rare diseases (RDs) as life-threatening or chronically debilitating conditions whose prevalence is less than 5 per 10,000. Moreover, for many RDs, including those of genetic origin, combined efforts are required to reduce morbidity or perinatal or early mortality, and address the considerable decline in an individual's quality of life and socioeconomic pote...

Peripherin/rds (P/rds ) is a membrane glycoprotein essential for the photoreceptor outer segment disc morphogenesis and maintenance. More than half of the disease-causing mutations in P/rds have been linked to different forms of macular dystrophy; the most common one is substitution of tryptophan for arginine at position 172 (R172W). Here we confirm the patient phenotype associated with the exp...