Rare coding variants and X-linked loci associated with age at menarche.

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.

Open-Source Data and the Study of Homicide.

To date, no discussion has taken place in the social sciences as to the appropriateness of using open-source data to augment, or replace, official data sources in homicide research. The purpose of this article is to examine whether open-source data have the potential to be used as a valid and reliable data source in testing theory and studying homicide. Official and open-source homicide data were collected as a case study in a single jurisdiction over a 1-year period.

Performance of an Electronic Diary System for Intensive Insulin Management in Global Diabetes Clinical Trials.

Background: This report describes the performance of a wireless electronic diary (e-diary) system for data collection and enhanced patient-investigator interactions during intensive insulin management in diabetes clinical trials.

Materials And Methods: We implemented a customized electronic communication system featuring an e-diary and a Web portal in three global, randomized, controlled Phase 3 clinical trials testing basal insulin peglispro compared with insulin glargine, both combined with prandial insulin lispro, in patients with type 1 or type 2 diabetes mellitus (T1DM and T2DM, respectively). We collected data during 28 weeks of study e-diary use for the report.

Mortality following Traumatic Brain Injury among Individuals Unable to Follow Commands at the Time of Rehabilitation Admission: A National Institute on Disability and Rehabilitation Research Traumatic Brain Injury Model Systems Study.

Severe traumatic brain injury (TBI) has been associated with increased mortality. This study characterizes long-term mortality, life expectancy, causes of death, and risk factors for death among patients admitted within the National Institute on Disability and Rehabilitation Research (NIDRR) TBI Model Systems Programs (TBIMS) who lack command following at the time of admission for inpatient TBI rehabilitation. Of the 8084 persons enrolled from 1988 and 2009, 387 from 20 centers met study criteria.

β-Catenin-regulated ALDH1A1 is a target in ovarian cancer spheroids.

Cancer cells form three-dimensional (3D) multicellular aggregates (or spheroids) under non-adherent culture conditions. In ovarian cancer (OC), spheroids serve as a vehicle for cancer cell dissemination in the peritoneal cavity, protecting cells from environmental stress-induced anoikis. To identify new targetable molecules in OC spheroids, we investigated gene expression profiles and networks upregulated in 3D vs traditional monolayer culture conditions.

The p85alpha subunit of class IA phosphatidylinositol 3-kinase regulates the expression of multiple genes involved in osteoclast maturation and migration.

Intracellular signals involved in the maturation and function of osteoclasts are poorly understood. Here, we demonstrate that osteoclasts express multiple regulatory subunits of class I(A) phosphatidylinositol 3-kinase (PI3-K) although the expression of the full-length form of p85alpha is most abundant. In vivo, deficiency of p85alpha results in a significantly greater number of trabeculae and significantly lower spacing between trabeculae as well as increased bone mass in both males and females compared to their sex-matched wild-type controls.

Perceptions of Adapted Physical Education Graduates From Selected Universities on Attainment of Doctoral Competencies.

Graduates from four adapted physical education doctoral programs (1980-1999) within the United States were surveyed to determine their perceptions on the extent to which they attained published competencies in the areas of research and adapted physical education. A survey was mailed to 109 doctoral program graduates. A total of 99 surveys (91%) were usable for data analysis.

Perceived Barriers to Including Students with Visual Impairments in General Physical Education.

The purpose of this study was to examine barriers perceived by teachers when including students with visual impairments in general physical education. Teachers (52 males, 96 females) who had children with visual impairments in their physical education classes were surveyed prior to in-service workshop participation. The most prevalent barriers were professional preparation, equipment, programming, and time.