Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The meaning of aging for women with childhood onset disabilities

textThe purpose of this study was to gain an understanding of the meaning of aging for women with childhood onset disabilities. It was my aim to explore the life course of women aging with paralytic polio and to convey an account of the changes associated with aging, the strategies used to adapt to the changes, and the affects of gender on their ability to adapt to the changes. Using a hermeneutic-phenomenological methodology, 32 women with a history of paralytic polio were interviewed and audio taped 2 to 4 times for 1 to 4 hours at each interview. Of these women, 25 met the criterion needed to understand aging with impairment from childhood. The 25 women whose stories were used in the final analysis were 55 to 65 years old. The majority was Anglo (80%), married (64%), and had children (68%). The mean age of paralytic polio onset was 5.5 years of age. The majority had been diagnosed with post polio syndrome (88%), and was using some type of assistive device (88%). A thematic analysis revealed 4 themes regarding the meaning of aging: It’s Just Part of Me, Slowing Down, The Particulars of Aging, and the Journey that Changes You. Next, changes associated with aging, consequences of the changes, and strategies used to adapt to the changes were described. Finally, 2 themes emerged to describe how gender influenced their ability to adapt to the changes with aging: Perceptions of Self and Discrepancies in Womanhood. Findings indicated that perceptions of age influenced their reaction to impairment. Their ability to adapt was influenced by their ability to find synchrony between perceptions of self and their ability to act on their behalf. Impairment did not necessarily damage their ability to act on their behalf. Other life circumstances, many of which may be common to women without disabilities, combined with their impairments to influence the meaning of aging. Although the women pushed their bodies to the point of decline to achieve their chosen roles, they valued their achievements in life. Directions for future research and implications for nursing practice were discussed.Nursin

The social construction of disability and the capabilities approach: Implications for nursing

Problem Improving the health and well-being of people with disabilities (PWD) should be included https://plato.stanford.edu/cgi-bin/encyclopedia/archinfo.cgi?entry=justice-distributivein any strategies aimed at eliminating health disparities and achieving health equity in the United States. However, practitioners and policymakers often overlook disability when considering health equity. This is problematic because structural injustices including social and environmental barriers frequently worsen health for PWD. A commitment to social justice, however, dictates that everyone should have equitable opportunities to participate in chosen aspects of life to the best of their abilities and desires. Methods We use a critical commentary to provide suggestions for the nursing discipline. Specifically, we 1) position the disparities in health and well-being experienced by PWD as matters of equity and social justice, 2) describe Amartya Sen\u27s capabilities approach, and 3) provide suggestions for incorporating tenets of the capabilities approach into nursing practice, research, and policy. Conclusion The capabilities approach can provide a useful framework to guide nursing practice, research, and policy in order to advance social justice for PWD

Music Compared with Auditory Books: A Randomized Controlled Study Among Long-Term Care Residents with Alzheimer's Disease or Related Dementia.

BackgroundOver 5 million Americans age 65 years and older were diagnosed with Alzheimer's disease and/or related dementia (ADRD), a majority of whom exhibit behavioral and psychological symptoms leading to placement in long-term care settings. These facilities need nonmedical interventions, and music-based programs have received supportive evidence.SettingThirteen long-term care facilities were among a wave of facilities that volunteered to be trained and to administer a music-based intervention. The residents within were randomized into intervention or control groups (intervention/music, n = 103; control/audiobook, n = 55).DesignThis team used a pragmatic trial to randomly embed music and control (audiobooks) into 13 long-term care facilities to compare the effects on agitation in people with ADRD.MethodsMeasures included a demographic survey; the Mini-Mental Status Examination, used to assess cognitive status; and the Cohen-Mansfield Agitation Inventory with 4 subscales, used to measure agitation. These measures were implemented at baseline and every 2 weeks for 8 weeks. Mixed-effects models were used to evaluate change in agitation measures while addressing dependencies of scores within participants and facility.ResultsDecreases in agitation were attributable to both music and audiobooks in 3 of 4 agitation subscales. In the fourth, physical agitation, which was not directed toward staff, initially, it decreased given music, and increased thereafter; and generally, it increased with the audiobooks.Conclusion and implicationsBoth music and control audiobooks delivered by headphones after personalized selection reduced some aspects of agitation in residents diagnosed with ADRD. The effects of music were greater initially then diminished

Mixed-Methods Study of Disability Self-Management in Mexican Americans With Osteoarthritis.

BACKGROUND: Health disparities in osteoarthritis (OA) outcomes exist both in the occurrence and treatment of functional limitation and disability for Mexican Americans. Although the effect of self-management of chronic illness is well established, studies demonstrate little attention to self-management of function or disability, despite the strong potential effect on both and, consequently, on patients' lives. OBJECTIVE: The purpose of this study pilot was to develop and test key variable relationships for a measure of disability self-management among Mexican Americans. METHODS: In this sequential, two-phased, mixed-methods, biobehavioral pilot study of Mexican American women and men with OA, a culturally tailored measure of disability self-management was created, and initial relationships among key variables were explored. RESULTS: First, a qualitative study of 19 adults of Mexican American descent born in Texas (United States) or Mexico was conducted. The Mexican American Disability Self-Management Scale was created using a descriptive content analysis of interview data. The scale was tested and refined, resulting in 18 items and a descriptive frequency of therapeutic management efforts. Second, correlations between study variables were estimated: Disability and function were negatively correlated. Disability correlated positively with social support and activity effort. Disability correlated negatively with disability self-management, pain, and C-reactive protein. Function was positively correlated with age, pain, and depression. Liver enzymes (alanine transaminase) correlated positively with pain and anxiety. DISCUSSION: This mixed-methods study indicates directions for further testing and interventions for disability outcomes among Mexican Americans