A Clinical Trial to Increase the Identification, Genetic Counseling Referral and Genetic Testing of Women at risk for Hereditary Breast and/or Ovarian Cancer

Background: Approximately 1/300 individuals in the general population are at risk for hereditary breast and ovarian cancer due to an inherited mutation in the BRCA1/BRCA2 genes. BRCA mutations are associated with dramatically increased risks for breast cancer, especially at younger ages, in addition to ovarian cancer. Enhanced screening and risk reduction strategies can significantly reduce associated morbidity and mortality. The United States Preventive Services Task Force (USPSTF) recommends identifying women at-risk for BRCA mutations for receipt of genetic counseling and if appropriate, testing. The Breast Cancer Genetics Referral Screening Tool (B-RST) is a validated screen endorsed by USPSTF to facilitate this process. This implementation study seeks to evaluate the most effective means of follow-up for screen-positive women to maximize the number who are referred to, and receive, cancer genetic counseling (CGC) services. Methods: B-RST (v3.0) was used in three Emory Healthcare breast-imaging centers. Screen-positive women were randomized into three methods of follow-up (patient initiated, physician notification, or staff phone call). Primary outcomes were to compare the number of screen positive individuals who were referred for, scheduled, and completed a CGC appointment among the three groups. Results: Of 3,419 women approached, 63% participated and 579 (27%) screened positive. Appointments were scheduled by 7% of Group 1 participants, 17% of Group 2 individuals, and 11% of Group 3. Conclusions: Genomic medicine is receiving increased attention in the public health arena. Screening with B-RST 3.0 in mammography settings can improve identification of individuals at-risk for BRCA mutations and facilitate referral to CGC services. Despite B-RST’s ability to easily and accurately identify individuals appropriate for CGC, additional strategies are needed to facilitate completion of CGC in routine clinical practice

Bridging text spotting and SLAM with junction features

Navigating in a previously unknown environment and recognizing naturally occurring text in a scene are two important autonomous capabilities that are typically treated as distinct. However, these two tasks are potentially complementary, (i) scene and pose priors can benefit text spotting, and (ii) the ability to identify and associate text features can benefit navigation accuracy through loop closures. Previous approaches to autonomous text spotting typically require significant training data and are too slow for real-time implementation. In this work, we propose a novel high-level feature descriptor, the “junction”, which is particularly well-suited to text representation and is also fast to compute. We show that we are able to improve SLAM through text spotting on datasets collected with a Google Tango, illustrating how location priors enable improved loop closure with text features.Andrea Bocelli FoundationEast Japan Railway CompanyUnited States. Office of Naval Research (N00014-10-1-0936, N00014-11-1-0688, N00014-13-1-0588)National Science Foundation (U.S.) (IIS-1318392

Can the Use of Art and Active Learning Improve Retention and Observational Skill Confidence Among Audiology Graduate Students

Human anatomy and physiology is considered one of the most difficult courses a student can take in a pre-health professional major in the US (Slominski, et. al., 2017). Research has revealed benefits of the use of art and anatomy within medical education, including improved clinical observational skills, greater understanding of disease and patient perspectives, and greater ability to empathize (Bell & Evans, 2014). Bell and Evans (2014) argue that observational skills are often overlooked in medical education. Use of art assignments in a graduate anatomy and physiology course will be discussed with reference to design and learning outcomes. The purpose of this study was to evaluate the relationship between art and medical education for audiology students. This study aimed to incorporate STEAM education (art assignments, the teaching effect, and community outreach) into audiology curriculum. Auburn University’s Au.D. class of 2022 participated in this study, consisting of 10 students. The Student Assessment of Learning Gains (SALG) questionnaire was conducted and provided qualitative and quantitative evidence supporting the integration of art in the Doctor of Audiology curriculum. BASE (pre) and SALG (post) outcomes assessed that the use of STEAM assignments can help improve the retention of the anatomy and physiology within of the auditory system. Cross-tabulations of pre and post course responses show a positive increase in student understanding of course material. A positive perception that art assignments enhanced student confidence and clinical observation skills related to the course was observed.  Many students felt they had a great gain in understanding covered topics. The effects of utilizing the teaching effect and community outreach were also positively seen by student participants. Students’ opinions following coursework and cross-tabulations support a place for art in health education and healthcare

Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress

10.1172/JCI63051Journal of Clinical Investigation12282793-2806JCIN

Return to performance following severe ankle, knee, and hip injuries in National Basketball Association players

Abstract The purpose of this study was to compare basketball performance markers one year prior to initial severe lower extremity injury, including ankle, knee, and hip injuries, to one- and two-years following injury during the regular NBA season. Publicly available data were extracted through a reproducible extraction computed programmed process. Eligible participants were NBA players with at least three seasons played between 2008 and 2019, with a time-loss injury reported during the study period. Basketball performance was evaluated for season minutes, points, and rebounds. Prevalence of return to performance and linear regressions were calculated. 285 athletes sustained a severe lower extremity injury. 196 (69%) played one year and 130 (45%) played two years following the injury. Time to return to sport was similar between groin/hip/thigh [227 (88)], knee [260 (160)], or ankle [260 (77)] (P = 0.289). 58 (30%) players participated in a similar number of games and 57 (29%) scored similar points one year following injury. 48 (37%) participated in a similar number of games and 55 (42%) scored a similar number of points two years following injury. Less than half of basketball players that suffered a severe lower extremity injury were participating at the NBA level two years following injury, with similar findings for groin/hip/thigh, knee, and ankle injuries. Less than half of players were performing at previous pre-injury levels two years following injury. Suffering a severe lower extremity injury may be a prognostic factor that can assist sports medicine professionals to educate and set performance expectations for NBA players

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

Incidence of invasive salmonella disease in sub-Saharan Africa: a multicentre population-based surveillance study.

BACKGROUND: Available incidence data for invasive salmonella disease in sub-Saharan Africa are scarce. Standardised, multicountry data are required to better understand the nature and burden of disease in Africa. We aimed to measure the adjusted incidence estimates of typhoid fever and invasive non-typhoidal salmonella (iNTS) disease in sub-Saharan Africa, and the antimicrobial susceptibility profiles of the causative agents. METHODS: We established a systematic, standardised surveillance of blood culture-based febrile illness in 13 African sentinel sites with previous reports of typhoid fever: Burkina Faso (two sites), Ethiopia, Ghana, Guinea-Bissau, Kenya, Madagascar (two sites), Senegal, South Africa, Sudan, and Tanzania (two sites). We used census data and health-care records to define study catchment areas and populations. Eligible participants were either inpatients or outpatients who resided within the catchment area and presented with tympanic (≥38·0°C) or axillary temperature (≥37·5°C). Inpatients with a reported history of fever for 72 h or longer were excluded. We also implemented a health-care utilisation survey in a sample of households randomly selected from each study area to investigate health-seeking behaviour in cases of self-reported fever lasting less than 3 days. Typhoid fever and iNTS disease incidences were corrected for health-care-seeking behaviour and recruitment. FINDINGS: Between March 1, 2010, and Jan 31, 2014, 135 Salmonella enterica serotype Typhi (S Typhi) and 94 iNTS isolates were cultured from the blood of 13 431 febrile patients. Salmonella spp accounted for 33% or more of all bacterial pathogens at nine sites. The adjusted incidence rate (AIR) of S Typhi per 100 000 person-years of observation ranged from 0 (95% CI 0-0) in Sudan to 383 (274-535) at one site in Burkina Faso; the AIR of iNTS ranged from 0 in Sudan, Ethiopia, Madagascar (Isotry site), and South Africa to 237 (178-316) at the second site in Burkina Faso. The AIR of iNTS and typhoid fever in individuals younger than 15 years old was typically higher than in those aged 15 years or older. Multidrug-resistant S Typhi was isolated in Ghana, Kenya, and Tanzania (both sites combined), and multidrug-resistant iNTS was isolated in Burkina Faso (both sites combined), Ghana, Kenya, and Guinea-Bissau. INTERPRETATION: Typhoid fever and iNTS disease are major causes of invasive bacterial febrile illness in the sampled locations, most commonly affecting children in both low and high population density settings. The development of iNTS vaccines and the introduction of S Typhi conjugate vaccines should be considered for high-incidence settings, such as those identified in this study. FUNDING: Bill & Melinda Gates Foundation

Visual and olfactory cues used by the apple clearwing moth, Synanthedon myopaeformis (Lepidoptera: Sesiidae), to locate inflorescences of showy milkweed

The apple clearwing moth, Synanthedon myopaeformis Borkhausen (Lepidoptera: Sesiidae), is a recently introduced pest of apples in Canada. In British Columbia, adult moths are attracted to, and feed upon, visually conspicuous and fragrant inflorescences of showy milkweed, Asclepias speciosa (Torrey). I analyzed visual and olfactory cues that might mediate this behaviour. Histological studies of S. myopaeformis eyes revealed apposition ommatidia. In electroretinograms, S. myopaeformis eyes were sensitive to ultraviolet (UV) and green wavelengths, indicating their potential for dichromatic vision. However, inflorescences of A. speciosa do not reflect UV light, and field experiments revealed that S. myopaeformis relies mostly on semiochemicals to locate the inflorescences. Floral semiochemicals were analyzed by coupled gas chromatographic-electroantennographic detection (GC-EAD), GC-mass spectrometry and proboscis extension reflex bioassays. Among the > 10 candidate floral semiochemicals field-tested, phenylacetaldehyde was the most attractive semiochemical for S. myopaeformis. Phenylacetaldehyde shows promise as a lure to monitor or mass-trap S. myopaeformis

Differences in Symptoms among Black and White Patients with ME/CFS

Study samples of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) have primarily involved White subjects, so the literature on ethnic differences is sparse. The current study identified a sample of 19 Black patients diagnosed with ME/CFS and compared them with White patients with ME/CFS, as well as with healthy controls. The studies used a similar psychometrically sound assessment tool to assess symptoms in all subjects. Findings indicated there were significant differences between patients with ME/CFS versus controls, but few differences between patients who identified as Black or White. The results suggest there might be few symptom differences between patients with ME/CFS in these two ethnic groups. The implications of these findings are discussed

When Should a Provider Consider Insulin Human Inhalation Powder?

Insulin human inhalation powder, a rapid-acting inhaled insulin, was approved by the FDA in June 2014 for patients with type 1 or type 2 diabetes. For patients reluctant to start insulin therapy because of fear of injections, insulin human inhalation powder may be an alternative. This article discusses appropriate dosing, use, and monitoring