Medicine and Health Sciences Commons^™

A Population-Specific Reference Panel Empowers Genetic Studies Of Anabaptist Populations., Liping Hou, Rachel L Kember, Jared C Roach, Jeffrey R O'Connell, David W Craig, Maja Bucan, William K Scott, Margaret Pericak-Vance, Jonathan L Haines, Michael H Crawford, Alan R Shuldiner, Francis J Mcmahon

Articles, Abstracts, and Reports

Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offer one solution, however population-specific reference panels are needed to assure optimal imputation accuracy and allele frequency estimation. Here we report the Anabaptist Genome Reference Panel (AGRP), the first whole-genome catalogue of variants and phased haplotypes in people of Amish and Mennonite ancestry. Based on high-depth whole-genome sequence (WGS) from 265 individuals, the AGRP contains >12 M high-confidence single nucleotide variants and short indels, of which ~12.5% are novel. These …

Optimal Nutrition And The Ever-Changing Dietary Landscape: A Conference Report., A Shao, A Drewnowski, D C Willcox, L Krämer, Christopher G Lausted, M Eggersdorfer, J Mathers, J D Bell, R K Randolph, R Witkamp, J C Griffiths

Articles, Abstracts, and Reports

The field of nutrition has evolved rapidly over the past century. Nutrition scientists and policy makers in the developed world have shifted the focus of their efforts from dealing with diseases of overt nutrient deficiency to a new paradigm aimed at coping with conditions of excess-calories, sedentary lifestyles and stress. Advances in nutrition science, technology and manufacturing have largely eradicated nutrient deficiency diseases, while simultaneously facing the growing challenges of obesity, non-communicable diseases and aging. Nutrition research has gone through a necessary evolution, starting with a reductionist approach, driven by an ambition to understand the mechanisms responsible for the effects …

Nutritional Approaches To Achieve Weight Loss In Nonalcoholic Fatty Liver Disease., Christine C Hsu, Erik Ness, Kris V Kowdley

Articles, Abstracts, and Reports

Nonalcoholic fatty liver disease (NAFLD) can range in spectrum from simple hepatic steatosis to nonalcoholic steatohepatitis (NASH), which is characterized by lipotoxicity, hepatocellular ballooning, and inflammation and can progress to cirrhosis. Weight loss is the cornerstone treatment for NAFLD and NASH. Various randomized controlled trials have shown that weight loss of ≥5-10% leads to significant improvements in hepatic steatosis. Diets high in sodium and fructose have been implicated in the pathogenesis of NAFLD. Although some clinical studies suggest that an isocaloric high-fructose diet does not worsen NAFLD, these clinical studies are often short in duration. More recently, the Dietary Approaches …

Alzheimer’S Disease And Other Dementias Workgroup: Alzheimer’S Disease And Other Dementias Report And Recommendations, V Weir (Ed), K Rhoads (Chair), Nancy B. Isenberg, See All Group Members In Comments

Articles, Abstracts, and Reports

Rates of Alzheimer’s disease and other dementias are expected to increase greatly over the next decades. Many practices lack guidelines on how to increase quality of diagnosing, treating, and supporting people with dementia and their family members and other caregivers. This workgroup met from January to November 2017, aligned with and built off the Alzheimer’s State Plan, and organized recommendations with the following focus areas:

• Early detection and appropriate diagnosis
• Ongoing care and support or management including for family members and caregivers
• Advance care planning and palliative care
• Assessment and planning for need for increased support and/or higher levels …

Brief Cognitive Screening Tools For Primary Care Practice, K Rhoads, Nancy B. Isenberg, L Korte

Articles, Abstracts, and Reports

Early detection and diagnosis of Alzheimer’s disease and other cognitive impairment presents as a critical issue facing primary and specialty care providers in Washington State. In order to address the gaps and challenges faced by providers, the Dementia Action Collaborative offers the current paper to provide information and guidance around early detection and diagnosis of memory loss and dementia, including Alzheimer’s disease. At the conclusion of this paper, providers should be able to identify indications and opportunities for detection, appropriate tools, and care pathways for individuals and families affected by cognitive impairment and dementia.