Intellectual enrichment and genetic modifiers of cognition and brain volume in Huntington's disease

An important step towards the development of treatments for cognitive impairment in ageing and neurodegenerative diseases is to identify genetic and environmental modifiers of cognitive function and understand the mechanism by which they exert an effect. In Huntington’s disease, the most common autosomal dominant dementia, a small number of studies have identified intellectual enrichment, i.e. a cognitively stimulating lifestyle and genetic polymorphisms as potential modifiers of cognitive function. The aim of our study was to further investigate the relationship and interaction between genetic factors and intellectual enrichment on cognitive function and brain atrophy in Huntington’s disease. For this purpose, we analysed data from Track-HD, a multi-centre longitudinal study in Huntington’s disease gene carriers and focused on the role of intellectual enrichment (estimated at baseline) and the genes FAN1, MSH3, BDNF, COMT and MAPT in predicting cognitive decline and brain atrophy. We found that carrying the 3a allele in the MSH3 gene had a positive effect on global cognitive function and brain atrophy in multiple cortical regions, such that 3a allele carriers had a slower rate of cognitive decline and atrophy compared with non-carriers, in agreement with its role in somatic instability. No other genetic predictor had a significant effect on cognitive function and the effect of MSH3 was independent of intellectual enrichment. Intellectual enrichment also had a positive effect on cognitive function; participants with higher intellectual enrichment, i.e. those who were better educated, had higher verbal intelligence and performed an occupation that was intellectually engaging, had better cognitive function overall, in agreement with previous studies in Huntington’s disease and other dementias. We also found that intellectual enrichment interacted with the BDNF gene, such that the positive effect of intellectual enrichment was greater in Met66 allele carriers than non-carriers. A similar relationship was also identified for changes in whole brain and caudate volume; the positive effect of intellectual enrichment was greater for Met66 allele carriers, rather than for non-carriers. In summary, our study provides additional evidence for the beneficial role of intellectual enrichment and carrying the 3a allele in MSH3 in cognitive function in Huntington’s disease and their effect on brain structure

The Seventeenth Data Release of the Sloan Digital Sky Surveys: Complete Release of MaNGA, MaStar and APOGEE-2 Data

This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library (MaStar) accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) survey which publicly releases infra-red spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the sub-survey Time Domain Spectroscopic Survey (TDSS) data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey (SPIDERS) sub-survey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated Value Added Catalogs (VACs). This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper (MWM), Local Volume Mapper (LVM) and Black Hole Mapper (BHM) surveys

Genetic prediction of male pattern baldness

Male pattern baldness can have substantial psychosocial effects, and it has been phenotypically linked to adverse health outcomes such as prostate cancer and cardiovascular disease. We explored the genetic architecture of the trait using data from over 52,000 male participants of UK Biobank, aged 40-69 years. We identified over 250 independent genetic loci associated with severe hair loss (P<5x10-8). By splitting the cohort into a discovery sample of 40,000 and target sample of 12,000, we developed a prediction algorithm based entirely on common genetic variants that discriminated (AUC = 0.78, sensitivity = 0.74, specificity = 0.69, PPV = 59%, NPV = 82%) those with no hair loss from those with severe hair loss. The results of this study might help identify those at greatest risk of hair loss, and also potential genetic targets for intervention

Women at Hampton, 1930-1959

All too often the assumption is made that all systems of higher education are the same for all groups of people. Little consideration is given to specific experiences or the possibility of differences in the preparation as expressed by race, class and gender. As our society becomes more diverse, more attention should be placed. on sharing and appreciating the unique approaches to higher education for various sets. This study seeks to give a distinctive voice to the preparation received by women of African American descent at a traditionally Black college during the roughly thirty year period between 1930 and 1959. This study identifies the goals and methods of education for Black women and also points out the distinctive limitations that had to be addressed in their preparation. It deals finally with the middle class role these women assumed to enhance the lives of those within the African American community

Women at Hampton, 1930-1959

This study examines women\u27s education at one Black college, Hampton Institute, and Hampton women\u27s subsequent involvement in community service during the period from 1930 to 1959. The research concentrates on the college life of women along with the contributions of female faculty, administration and staff during the designated time period. It links Hampton women\u27s experiences to their achievements in the Black Virginia community. The study provides an interpretation of African American women\u27s higher education from the onset of collegiate level studies at Hampton Institute until the zenith of the Civil Rights era. Problems for study converge on the methods used and the programs which emerged to educate women at Hampton Institute along with the resulting graduates\u27 impact on Black community life. The traditional approach to historical method is used to analyze data found in the Hampton University Archives and to arrive at an historical interpretation. Evidence gathered in the form of letters, annual reports, speeches, memos, catalogs, student records and information given to students is used as indicators of the practices and circumstances that were part of the women\u27s existence. The results demonstrate that the group studied was typically first generation college students and lived within a concentric geographic location of the college. They selected courses of study leading to teaching, nursing, home economics and library professions. The educational preparation took place in a structured social environment designed to develop participants of the Black middle class. Upon completion of their studies, Hampton women made significant contributions in Virginia\u27s African American community. The study concludes that the educational preparation of the women was devised to meet the need to prepare African American women for the distinctive middle class experience and for the existing work in the segregated life of that era. Hampton\u27s preparation also formed the foundation for these women to establish and maintain a major portion of the existing educational and social welfare programs available to the African American community of Virginia, since these needs were largely ignored by state and public agencies

ACR Appropriateness Criteria(R) acute pancreatitis

The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every two years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances where evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. The Atlanta Classification by the Acute Pancreatitis Classification Working Group recently modified the terminology for the clinical course and the morphologic changes identified on imaging, primarily contrast- enhanced multidetector computed tomography (MDCT). The two distinct clinical courses of the disease are classified as (1) early phase, which lasts approximately 1 week, and (2) late phase, which starts after the first week and can last for months after the initial episode. The two, primary, morphologic changes are acute, interstitial edematous and necrotizing pancreatitis. Timing of imaging, primarily MDCT, is based on the clinical phases and is, therefore, important for these imaging guidelines. Ultrasound\u27s role is to detect gallstones after the first episode. MDCT plays a primary role in the management of acutely ill patients, only after a minimum of 48-72 hours and generally after one week. MR plays a supplementary role to MDCT. Follow-up MDCT guides management and therapy: percutaneous aspiration of fluid collections and/or placement of large caliber catheters in infected necrosis

ACR appropriateness criteria right upper quadrant pain

Acute right upper quadrant pain is a common presenting symptom in patients with acute cholecystitis. When acute cholecystitis is suspected in patients with right upper quadrant pain, in most clinical scenarios, the initial imaging modality of choice is ultrasound. Although cholescintigraphy has been shown to have slightly higher sensitivity and specificity for diagnosis, ultrasound is preferred as the initial study for a variety of reasons, including greater availability, shorter examination time, lack of ionizing radiation, morphologic evaluation, confirmation of the presence or absence of gallstones, evaluation of bile ducts, and identification or exclusion of alternative diagnoses. CT or MRI may be helpful in equivocal cases and may identify complications of acute cholecystitis. When ultrasound findings are inconclusive, MRI is the preferred imaging test in pregnant patients who present with right upper quadrant pain. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. rights reserved