Pseudomonas aeruginosa is an important pathogen in patients with cystic fibrosis. In this report, data suggest that estrogen may play a role in the modulation of virulence factors in P. aeruginosa and thus affect clinical exacerbations in women with cystic fibrosis.

Heat-stable enterotoxin induces diarrhea by activating guanylate cyclase (GC-C) on enterocytes, resulting in the secretion of water into the intestinal lumen. This study shows that an activating mutation affecting GC-C also produces this effect.

Three patients with homozygous mutations in the integrin α3 gene, a transmembrane integrin receptor subunit, were found to have disrupted basement-membrane structures causing congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa.

Podoconiosis is a tropical form of noninfectious lymphedema associated with exposure to red-clay soil. It affects over 4 million people and is associated with substantial morbidity. In this genomewide association study in Ethiopia, associations were identified in two HLA class II loci.

A monoclonal antibody to PCSK9 was studied in two single-dose trials in healthy volunteers and one multiple-dose trial in patients with familial or nonfamilial hypercholesterolemia. In all three groups, the antibody reduced levels of LDL cholesterol.

Titin, an important protein in the sarcomere, is the largest human protein. This study identified mutations in the titin gene that result in a truncated protein as important causes of dilated cardiomyopathy.

Using techniques to target the liver, enhance gene expression, and avoid eliciting an immune response, the authors administered an adenovirus-associated virus containing the gene for factor IX (FIX) in six patients with hemophilia B. The result was either reduction or elimination of the need for FIX prophylaxis.