Association of SNP-SNP interactions of surfactant protein genes with severity of respiratory syncytial virus infection in children.

The severity of respiratory syncytial virus (RSV) may be linked to host genetic susceptibility. Surfactant protein (SP) genetic variants have been associated with RSV severity, but the impact of single-nucleotide polymorphism (SNP)-SNP interactions remains unexplored. Therefore, we used a novel statistical model to investigate the association of SNP-SNP interactions of genes with RSV severity in two- and three-interaction models.

Impact of hyponatremia in preeclamptic patients with severe features.

Hyponatremia, though common in women with preeclampsia, has not been well studied. Our primary objectives are to assess the clinical characteristics and emergency therapy applied to subjects diagnosed with preeclampsia. We hypothesize that hyponatremia present in preeclamptic patients with severe features is associated with greater use of emergency hypertensives, antenatal steroids, and cesarean delivery.

Hydrophilic But Not Hydrophobic Surfactant Protein Genetic Variants Are Associated With Severe Acute Respiratory Syncytial Virus Infection in Children.

Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infection-related hospitalization in the first year of life. Surfactant dysfunction is central to pathophysiologic mechanisms of various pulmonary diseases including RSV. We hypothesized that RSV severity is associated with single nucleotide polymorphisms (SNPs) of surfactant proteins (SPs).

Frequency and Results of Pregnancy Screening in Critically Ill Adolescents in Multiple Health Care Organizations.

Purpose: Adolescent females may undergo pregnancy screening while receiving critical care services, but the frequency and results are unknown. The objectives of this study are to evaluate patient characteristics, pregnancy screening frequency, and rate of positive pregnancy screens in adolescent females of childbearing age who require critical care services. We hypothesize that when adolescent pregnancy screening is performed in the critical care setting, it occurs in a higher frequency in older subjects.

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features.