Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.

We report on the characterization of a de novo, apparently balanced translocation t(X;15)(p11.3;q26) detected in a girl with multiple congenital malformations. Replication banding studies on Epstein–Barr virus transformed peripheral blood lymphocytes revealed non-random X chromosome inactivation with predominant inactivation of the derivative X chromosome. Using chromosomal fluorescence in situ hybridization (FISH), we located the breakpoints to a 30 kb region on the short arm of the X chromosome band p11.3 and to a 160 kb region defined by BAC RP11-89K11 on the long arm of chromosome 15. Our data suggest that the disruption/disturbance of plant homeo domain (PHD) zinc finger gene KIAA0215 or of another gene (RGN, RNU12, P17.3, or RBM10) in the breakpoint region on the X chromosome is not well tolerated and leads to the selection of cells with an active non-rearranged X chromosome

Incremental direct medical expenditures associated with anxiety disorders for the U.S. adult population: Evidence from the Medical Expenditure Panel Survey

Data from the 2009 and 2010 Medical Expenditure Panel Survey (MEPS) were used to estimate the annual incremental healthcare expenditures associated with anxiety disorders, for the ambulatory adult population of the U.S. Individuals 18 years and older, who reported a diagnosis of, or had a medical event associated with anxiety disorder(s), were classified as anxiety population. Multivariate regression analyses, using generalized linear models, were conducted to calculate incremental costs associated with anxiety disorders. 8.74% of adult respondents reported being diagnosed with anxiety disorder(s). The annual overall healthcare expenditure associated with anxiety disorders was estimated at $1657.52 per person (SE:$238.83; p\u3c. 0.001). Inpatient visits, prescription medications, and office-based visits together accounted for almost 93% of the overall cost. Given the prevalence of self-reported anxiety disorders in MEPS, their total direct medical expenditure is estimated at approximately $33.71 billion in 2013 US dollars, meaning this category of mental illnesses absorbs a significant portion of the U.S. healthcare resources. © 2013 Elsevier Ltd