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

Longitudinal Effects of Sex, Aging, and Multiple Sclerosis Diagnosis on Function.

BACKGROUND: A gap in research about the trajectories of function among men and women aging with functional limitations because of multiple sclerosis (MS) hinders ability to plan for future needs. OBJECTIVES: Using a biopsychosocial model, we characterize how men and women with MS report changes over time in their function and test how person-level differences in age, diagnosis duration, and sex influence perceived function. METHODS: A longitudinal study with multiple waves of surveys was used to collect data on participant perceptions of function, as well as demographic and contextual variables. Self-reported functional limitation was measured over a decade. The study participants were community residing with physician-diagnosed MS. RESULTS: The people with MS had a diagnosis duration of about 13 years and were around 51 years of age, on average, at the start of the study. They were primarily women and non-Hispanic White. We analyzed the data using mixed-effects models. Subject-specific, functional limitation trajectories were described best with a quadratic growth model. Relative to men, women reported lower functional limitation and greater between-person variation and rates of acceleration in functional limitation scores. DISCUSSION: Results suggest function progressed through two pathways for over a decade, particularly closer to diagnoses. Variability in trajectories between individuals based on sex and years since diagnosis of disease indicates that men and women with MS may experience perceptions of their function with age differently. This has implications for clinician advice to men and women with MS

Managing Ethical Problems in Qualitative Research Involving Vulnerable Populations, Using a Pilot Study

The purpose of the researcher's study was to examine the meaning that intimate partners of female rape victims attached to their lived experiences after the rape. The conduct of qualitative research concerning non-offending partners of female rape victims, however, often involves multifaceted ethical and practical challenges, which can be managed through the use of pilot studies. The pilot study described in this report had three objectives. The first was to pretest and refine the proposed method for locating, accessing, and recruiting intimate partners of female rape victims, within the first two weeks after the rape, for participation in a six-month longitudinal study. The second objective was to identify and prevent all possible risk factors in the proposed recruitment and data collection methods that could harm the participants' safety during the main study. The third objective was to determine the feasibility of the main study, in terms of the limited financial and human resources available. The pilot phase was valuable in identifying ethical and methodological problems during the recruitment of participants and collection of data. It allowed for methodological adjustments prior to the main study and confirmed the feasibility of the overall research design. A pilot, pretesting phase is therefore seen as an essential component of a qualitative study involving a vulnerable population