Exploring patient experiences and perspectives of a heart failure telerehabilitation program: a mixed methods approach

To describe patient experiences and perspectives of a group-based heart failure (HF) telerehabilitation program delivered to the homes via online video-conferencing.Limited information currently exists on patient experiences of telerehabilitation for HF. Patient feedback and end-user perspectives provide important information regarding the acceptability of this new delivery model which may have a substantial impact on future uptake.We used mixed-methods design with purposive sampling of patients with HF. We used self-report surveys and semi-structured interviews to measure patient experiences and perspectives following a 12-week telerehabilitation program. The telerehabilitation program encompassed group-based exercise and education, and were delivered in real-time via videoconferencing. Interviews were transcribed and coded, with thematic analysis undertaken.Seventeen participants with HF (mean age [SD] of 69 [12] years and 88% males) were recruited. Participants reported high visual clarity and ease of use for the monitoring equipment. Major themes included motivating and inhibiting influences related to telerehabilitation and improvement suggestions. Participants liked the health benefits, access to care and social support. Participants highlighted a need for improved audio clarity and connectivity as well computer training for those with limited computer experience. The majority of participants preferred a combined face-to-face and online delivery model.Participants in this study reported high visual clarity and ease-of-use, but provided suggestions for further improvements in group-based video telerehabilitation for HF

Timed up and go test: a reliable and valid test in patients with chronic heart failure

Background The timed up and go test (TUGT) is a short-duration functional test frequently used in rehabilitation settings as a measure of balance and mobility. Reliability and validity for patients with chronic heart failure (CHF) has yet to be determined. This prospective cohort study aimed to determine test-retest reliability of the TUGT in patients with CHF, relationships between the TUGT and other variables, including functional tests, and predictors of the TUGT. Methods and Results This was a secondary analysis of data collected in a multicenter randomized controlled trial of exercise training in recently hospitalized patients with heart failure (EJECTION-HF). The TUGT was conducted twice at baseline to determine reliability. Assessments were compared with 6-minute walk distance (6MWD), 10-m walk test time, and other clinical variables. Intraclass correlation coefficient (ICC) was used to determine test-retest reliability and correlations for relationships with other variables. A multiple regression was used to identify predictors of the TUGT. In 278 participants (mean age 62 years), the TUGT demonstrated excellent within-day test-retest reliability (ICC 0.93). A shorter (better) TUGT time was associated with longer 6MWD (r = −0.81; P < .001) and shorter 10-m walk test time (r = 0.80; P < .001). Best predictors of the TUGT were 6MWD and age, which accounted for 66% of the variance. Conclusions The TUGT appears to be a reliable and valid functional measurement in patients with CHF

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.

Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants

Cloning and characterization of XiR1, a locus responsible for dagger nematode resistance in grape

The dagger nematode, Xiphinemaindex, feeds aggressively on grape roots and in the process, vectors grapevine fanleaf virus (GFLV) leading to the severe viral disease known as fanleaf degeneration. Resistance to X. index and GFLV has been the key objective of grape rootstock breeding programs. A previous study found that resistance to X. index derived from Vitis arizonica was largely controlled by a major quantitative trait locus, XiR1 (X. index Resistance 1), located on chromosome 19. The study presented here develops high-resolution genetic and physical maps in an effort to identify the XiR1 gene(s). The mapping was carried out with 1,375 genotypes in three populations derived from D8909-15, a resistant selection from a cross of V. rupestris A. de Serres (susceptible) × V. arizonica b42-26 (resistant). Resistance to X. index was evaluated on 99 informative recombinants that were identified by screening the three populations with two markers flanking the XiR1 locus. The high-resolution genetic map of XiR1 was primarily constructed with seven DNA markers developed in this study. Physical mapping of XiR1 was accomplished by screening three bacterial artificial chromosome (BAC) libraries constructed from D8909-15, V. vinifera Cabernet Sauvignon and V. arizonica b42-26. A total of 32 BAC clones were identified and the XiR1 locus was delineated within a 115 kb region. Sequence analysis of three BAC clones identified putative nucleotide binding/leucine-rich repeat (NB-LRR) genes. This is the first report of a closely linked major gene locus responsible for ectoparasitic nematode resistance. The markers developed from this study are being used to expedite the breeding of resistant grape rootstocks

Business intelligence in banking: A literature analysis from 2002 to 2013 using Text Mining and latent Dirichlet allocation

telligence applications for the banking industry. Searches were performed in relevant journals resulting in 219 articles published between 2002 and 2013. To analyze such a large number of manuscripts, text mining techniques were used in pursuit for relevant terms on both business intelligence and banking domains. Moreover, the latent Dirichlet allocation modeling was used in or- der to group articles in several relevant topics. The analysis was conducted using a dictionary of terms belonging to both banking and business intelli- gence domains. Such procedure allowed for the identification of relationships between terms and topics grouping articles, enabling to emerge hypotheses regarding research directions. To confirm such hypotheses, relevant articles were collected and scrutinized, allowing to validate the text mining proce- dure. The results show that credit in banking is clearly the main application trend, particularly predicting risk and thus supporting credit approval or de- nial. There is also a relevant interest in bankruptcy and fraud prediction. Customer retention seems to be associated, although weakly, with targeting, justifying bank offers to reduce churn. In addition, a large number of ar- ticles focused more on business intelligence techniques and its applications, using the banking industry just for evaluation, thus, not clearly acclaiming for benefits in the banking business. By identifying these current research topics, this study also highlights opportunities for future research

Impaired expression of NER gene network in sporadic solid tumors

Nucleotide repair genes are not generally altered in sporadic solid tumors. However, point mutations are found scattered throughout the genome of cancer cells indicating that the repair pathways are dysfunctional. To address this point, in this work we focus on the expression pathways rather than in the DNA structure of repair genes related to either genome stability or essential metabolic functions. We present here a novel statistical analysis comparing ten gene expression pathways in human normal and cancer cells using serial analysis of gene expression (SAGE) data. We find that in cancer cells nucleotide-excision repair (NER) and apoptosis are the most impaired pathways and have a highly altered diversity of gene expression profile when compared to normal cells. We propose that genome point mutations in sporadic tumors can be explained by a structurally conserved NER with a functional disorder generated from its entanglement with the apoptosis gene network

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected

San Francisco Hep B Free: A Grassroots Community Coalition to Prevent Hepatitis B and Liver Cancer

Chronic hepatitis B is the leading cause of liver cancer and the largest health disparity between Asian/Pacific Islanders (APIs) and the general US population. The Hep B Free model was launched to eliminate hepatitis B infection by increasing hepatitis B awareness, testing, vaccination, and treatment among APIs by building a broad, community-wide coalition. The San Francisco Hep B Free campaign is a diverse public/private collaboration unifying the API community, health care system, policy makers, businesses, and the general public in San Francisco, California. Mass-media and grassroots messaging raised citywide awareness of hepatitis B and promoted use of the existing health care system for hepatitis B screening and follow-up. Coalition partners reported semi-annually on activities, resources utilized, and system changes instituted. From 2007 to 2009, over 150 organizations contributed approximately $1,000,000 in resources to the San Francisco Hep B Free campaign. 40 educational events reached 1,100 healthcare providers, and 50% of primary care physicians pledged to screen APIs routinely for hepatitis B. Community events and fairs reached over 200,000 members of the general public. Of 3,315 API clients tested at stand-alone screening sites created by the campaign, 6.5% were found to be chronically infected and referred to follow-up care. A grassroots coalition that develops strong partnerships with diverse organizations can use existing resources to successfully increase public and healthcare provider awareness about hepatitis B among APIs, promote routine hepatitis B testing and vaccination as part of standard primary care, and ensure access to treatment for chronically infected individuals