A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.

Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing. Potentially pathogenic variants were filtered and prioritized followed by validation by Sanger sequencing in the two brothers and their mother. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T; both brothers were hemizygous, and their mother was heterozygous for the variant. The variant is a single nucleotide change that introduces a stop codon in exon 9 (p.R423*), likely producing a truncated variant of the protein. This variant has only been reported twice in the literature, in the setting of finding genetic causes for other conditions. This result supports the clinical value of whole exome sequencing for identification of genetic pathogenic variants. Genetic diagnosis is the essential first step for genetic counseling, preimplantation diagnosis, and research for a potential treatment.

Time course and predictors of use of erectile dysfunction treatment in a Veterans Affairs medical center.

The objective of this study was to define the pattern and time course of use of ED treatments in a Veterans Affairs (VA) medical center and to identify clinical or demographic variables that are associated with the use of second- or third-line ED treatments. We identified 702 men treated for ED at the Greater Los Angeles Veterans Affairs between 2007 and 2013. We extracted demographics, Charlson co-morbidity score, pertinent surgical/medication history as well as use of ED treatments from medical records. On multivariate analysis, age over 65 (OR 1.83, 95% CI: 1.31-2.56) and Charlson co-morbidity score of 1 (OR 1.77, 95% CI: 1.13-2.77) and 2+ (OR 2.07, 95% CI: 1.28-3.36) were significantly associated with use of medicated urethral suppositories for erection (MUSE)/intracorporal injections (ICI) compared with PDE5i/erection devices. Across all men who used second- or third-line treatments, median time until receiving MUSE was 0.6 years and median time until receiving ICI/implant was 2 years. We conclude that men who will ultimately use more invasive ED treatments, such as men with more co-morbidities, tend to have a prolonged treatment course. This information may be incorporated into a shared decision-making model for more efficient treatment of ED.

Survival characteristics of Salmonella enterica serovar Enteritidis in chicken egg albumen.

Salmonella enterica serovar Enteritidis (SE) is a major foodborne pathogen primarily causing human infection through contaminated chicken eggs. To understand how SE survives in chicken egg albumen, we systematically and quantitatively analysed the survival properties of SE in egg albumen and identified factors affecting its survival. Survival assays of SE in egg indicate that egg albumen restricted the growth of SE. A major factor that controlled SE's growth in egg albumen was iron restriction, since egg albumen supplemented with iron allowed SE to grow, and iron acquisition mutants of SE showed decreased survival in egg albumen. In addition, low pH of albumen, high concentrations of bacteria and low incubation temperatures of bacteria with albumen facilitates the survival of SE. Our results suggest that egg albumen uses multiple mechanisms to control SE including iron limitation, surface interaction and possible enzymatic activities.