The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large family originally reported with this disorder, we identified a 23 bp frameshift deletion in the RNA binding motif protein X-linked (RBMX) gene at Xq26 in the affected males (n = 7), one carrier female, absent in unaffected males (n = 2) and in control databases (7800 exomes). The RBMX gene has not been previously causal of human disease.

A rare case of nasopharyngeal carcinoma with widespread CNS metastases.

Nasopharyngeal cancer is unique among head and neck cancers. Despite definitive treatment, there is a high rate of recurrence, most commonly in the bone, lung or liver. Brain metastases and particularly, leptomeningeal carcinomatosis are extremely rare.

A group-specific arbitrary tradition in chimpanzees (Pan troglodytes).

Social learning in chimpanzees has been studied extensively and it is now widely accepted that chimpanzees have the capacity to learn from conspecifics through a multitude of mechanisms. Very few studies, however, have documented the existence of spontaneously emerged traditions in chimpanzee communities. While the rigour of experimental studies is helpful to investigate social learning mechanisms, documentation of naturally occurring traditions is necessary to understand the relevance of social learning in the real lives of animals.

Use of multiple imputation to correct for bias in lung cancer incidence trends by histologic subtype.

Background: Over the past several decades, advances in lung cancer research and practice have led to refinements of histologic diagnosis of lung cancer. The differential use and subsequent alterations of nonspecific morphology codes, however, may have caused artifactual fluctuations in the incidence rates for histologic subtypes, thus biasing temporal trends.

Methods: We developed a multiple imputation (MI) method to correct lung cancer incidence for nonspecific histology using data from the Surveillance, Epidemiology, and End Results Program during 1975 to 2010.

US incidence of breast cancer subtypes defined by joint hormone receptor and HER2 status.

Background: In 2010, Surveillance, Epidemiology, and End Results (SEER) registries began collecting human epidermal growth factor 2 (HER2) receptor status for breast cancer cases.

Methods: Breast cancer subtypes defined by joint hormone receptor (HR; estrogen receptor [ER] and progesterone receptor [PR]) and HER2 status were assessed across the 28% of the US population that is covered by SEER registries. Age-specific incidence rates by subtype were calculated for non-Hispanic (NH) white, NH black, NH Asian Pacific Islander (API), and Hispanic women.

Problem solving in the presence of others: how rank and relationship quality impact resource acquisition in chimpanzees (Pan troglodytes).

In the wild, chimpanzees (Pan troglodytes) are often faced with clumped food resources that they may know how to access but abstain from doing so due to social pressures. To better understand how social settings influence resource acquisition, we tested fifteen semi-wild chimpanzees from two social groups alone and in the presence of others. We investigated how resource acquisition was affected by relative social dominance, whether collaborative problem solving or (active or passive) sharing occurred amongst any of the dyads, and whether these outcomes were related to relationship quality as determined from six months of observational data.

Comparison of SEER Treatment Data With Medicare Claims.

Background: The population-based Surveillance, Epidemiology, and End Results (SEER) registries collect information on first-course treatment, including surgery, chemotherapy, radiation therapy, and hormone therapy. However, the SEER program does not release data on chemotherapy or hormone therapy due to uncertainties regarding data completeness. Activities are ongoing to investigate the opportunity to supplement SEER treatment data with other data sources.

Challenges in meeting Healthy People 2020 objectives for cancer-related preventive services, National Health Interview Survey, 2008 and 2010.

Introduction: Healthy People (HP) is the US program that formulates and tracks national health objectives for the nation. The National Health Interview Survey (NHIS) is a designated data source for setting and evaluating several HP targets in cancer. We used data from the 2008 and 2010 NHIS to provide a benchmark for national performance toward meeting HP 2020 cancer-related objectives.

Chimpanzees (Pan troglodytes) flexibly adjust their behaviour in order to maximize payoffs, not to conform to majorities.

Chimpanzees have been shown to be adept learners, both individually and socially. Yet, sometimes their conservative nature seems to hamper the flexible adoption of superior alternatives, even to the extent that they persist in using entirely ineffective strategies. In this study, we investigated chimpanzees' behavioural flexibility in two different conditions under which social animals have been predicted to abandon personal preferences and adopt alternative strategies: i) under influence of majority demonstrations (i.

Using a composite index of socioeconomic status to investigate health disparities while protecting the confidentiality of cancer registry data.

Purpose: The lack of individual socioeconomic status (SES) information in cancer registry data necessitates the use of area-based measures to investigate health disparities. Concerns about confidentiality, however, prohibit publishing patients' residential locations at the subcounty level. We developed a census tract-based composite SES index to be released in place of individual census tracts to minimize the risk of disclosure.

Responses of chimpanzees to cues of conspecific observation.

Recent evidence has shown that humans are remarkably sensitive to artificial cues of conspecific observation when making decisions with potential social consequences. Whether similar effects are found in other great apes has not yet been investigated. We carried out two experiments in which individual chimpanzees, , took items of food from an array in the presence of either an image of a large conspecific face or a scrambled control image.

The role of advocacy in occasioning community and organizational change in a medical-legal partnership.

Health disparities among low-income individuals remain a significant problem. A number of social determinants are associated with adverse health outcomes. Medical-legal partnerships address legal concerns of low-income individuals to improve health and wellness in adults and children.

Double trouble: rugby associated simultaneous rupture of flexor digitorum profundus tendon in zones I and III.

Sporting-related finger injuries are common in the setting of contact sports. Traumatic rupture of the flexor digitorum profundus tendon (FDP) from its insertion point has been described as 'jersey' or 'rugger' finger. We report a case of jersey finger associated with a zone III intra-tendinous rupture in a 13 year-old boy who presented seven weeks post injury.

Ovarian cancer incidence trends in relation to changing patterns of menopausal hormone therapy use in the United States.

Purpose: After a report from the Women's Health Initiative (WHI) in 2002, a precipitous decline in menopausal hormonal therapy (MHT) use in the United States was linked to a decline in breast cancer incidence rates. Given that MHT use is also associated with increased ovarian cancer risk, we tested whether ovarian cancer incidence rates changed after 2002.

Methods: Using the North American Association of Central Cancer Registries database (1995 to 2008; N = 171,142 incident ovarian cancers), we applied standard analytic approaches and age-period-cohort (APC) models to estimate ovarian cancer incidence rate changes before (1995 to 2002) and after (2003 to 2008) the WHI report.

Reproducibility of physical activity recall over fifteen years: longitudinal evidence from the CARDIA study.

Background: To examine the benefits of physical activity (PA) on diseases with a long developmental period, it is important to determine reliability of long-term PA recall.

Methods: We investigated 15-year reproducibility of PA recall. Participants were 3605 White and African-American adults in the Coronary Artery Risk Development in Young Adults study, aged 33-45 at the time of recall assessment.

Regulation of HLA-DR peptide occupancy by histone deacetylase inhibitors.

Numerous molecular effects have been attributed to histone deacetylase inhibitors (HDACI's), including the induction of major histocompatibility (MHC) genes. Here we report that one FDA approved HDACI, Vorinostat, and a second HDACI currently in clinical trials, Entinostat, reduce the ratio of class II associated invariant peptide (CLIP) to the MHC class II molecule, HLA-DR, indicating an increase in the non-CLIP peptides bound to HLA-DR. The HDACI effects are apparent with immortalized B-cells, HLA-DR constitutive melanoma cells and with melanoma cells expressing HLA-DR due to transformation with an expression vector for the HLA-DR gene co-activator, CIITA.

Annual Report to the Nation on the Status of Cancer, 1975-2009, featuring the burden and trends in human papillomavirus(HPV)-associated cancers and HPV vaccination coverage levels.

Background: The American Cancer Society (ACS), the Centers for Disease Control and Prevention (CDC), the National Cancer Institute (NCI), and the North American Association of Central Cancer Registries (NAACCR) collaborate annually to provide updates on cancer incidence and death rates and trends in these outcomes for the United States. This year's report includes incidence trends for human papillomavirus (HPV)-associated cancers and HPV vaccination (recommended for adolescents aged 11-12 years).

Methods: Data on cancer incidence were obtained from the CDC, NCI, and NAACCR, and data on mortality were obtained from the CDC.

Integrating social workers into medical-legal partnerships: comprehensive problem solving for patients.

Medical-legal partnerships (MLPs) integrate legal services into the health care setting to resolve legal issues that have a negative impact on patient health. These partnerships between attorneys and health care professionals have traditionally focused on physicians. Despite early success and expansion of the MLP model, the literature is only beginning to explore the significant role that social workers can play in an MLP's development, process, and success.

The Healthy Children, Strong Families intervention: design and community participation.

Healthy Children, Strong Families (HCSF) is a 2-year, community-driven, family-based randomized controlled trial of a healthy lifestyles intervention conducted in partnership with four Wisconsin American Indian tribes. HCSF is composed of 1 year of targeted home visits to deliver nutritional and physical activity curricula. During Year 1, trained community mentors work with 2-5-year-old American Indian children and their primary caregivers to promote goal-based behavior change.