Parent BMI Increase 2 to 5 Years Post-study Related to Change in Age but Independent of Other Sociodemographics, Health Behavior, and Study Engagement (P16-001-19)

Objectives Characterize parent (P) weight change 2-5 y post participation in Fuel for Fun (FFF) a controlled trial of a school and family intervention focused on culinary and physical activity experiences for 4th grade youth. Methods P who had participated with their 4th grader in FFF were recruited via email to enroll in a follow-up (FFFFU) assessment. FFF-FU survey set included measures from the original study and new items pertinent to P of adolescents. Physical activity was measured with the IPAQ; low income was denoted as using an income-based program or worry about money for food. Height, weight, age in FFF and FFF-FU were self reported. Perimenopausal age included 47 y within BL and FFF-FU. Youth in FFF cohorts 1 and 4 were controls and cohorts 2 and 3 included the multi-component intervention. P were enrolled in 1 of 4 treatments varying in type and intensity. FFF and FFF-FU data were collected online using the Qualtrics platform. FFF P completed surveys at baseline (BL), post-intervention, and 4 months post-study. FFF-FU data were collected spring 2018, about 2 to 5 years years post-BL. Data were analyzed with repeated measures controlling for BL or FFF-FU sociodemographics, engagement, health behaviors. Results; Of the 418 FFF P, 127 completed FFF-FU surveys (mean age 42.5 6.0 y) with 115 providing weight and height. FFF-FU sample was female (88%), white (84%), active (44% high activity), educated (69% college degree or higher), but had lower BMI and fewer with low income than FFF P. Of FFF-FU providing heights/weights at the 4 assessments, mean (SE) BMIs were 24.2 (0.5), 24.4 (0.5), 24.6 (0.6) and 25.7 (0.6) respectively. Change in BMI was significant after controlling for age, stress, ethnicity, sex, physical activity level, P treatment and engagement, but not when BL to FFU-FU change in age or perimenopausal age were controlled. The significantly greater increase in BMI for P of intervention youth than controls persisted when controlling for sociodemographic and health behavior findings, but not when BL to FFFFU age change, perimenopausal age or activity level were controlled. Conclusions; Significant weight gain by P of youth in a nutrition intervention 2 to 5 years post-study was unrelated to stress, ethnicity, activity level, income, but was related to the FFF-FU age change from BL and perimenopausal age

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

Background So far, more than 170 loci have been associated with circulating lipid levels through genomewide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels. Methods We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from ~60 000 individuals in the discovery stage and ~90 000 samples in the replication stage. Results Our study resu

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels

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

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

Background: Individuals with exceptional longevity and their offspring have significantly larger high-density lipoprotein concentrations (HDL-C) particle sizes due to the increased homozygosity for the I405V variant in the cholesteryl ester transfer protein (CETP) gene. In this study, we investigate the association of CETP and HDL-C further to identify novel, independent CETP variants associated with HDL-C in humans. Methods: We performed a meta-analysis of HDL-C within the CETP region using 59,432 individuals imputed with 1000 Genomes data. We performed replication in an independent sample of 47,866 individuals and validation was done by Sanger sequencing. Results: The meta-analysis of HDL-C within the CETP region identified five independent variants, including an exonic variant and a common intronic insertion. We replicated these 5 variants significantly in an independent sample of 47,866 individuals. Sanger sequencing of the insertion within a single family confirmed segregation of this variant. The strongest reported association between HDL-C and CETP variants, was rs3764261; however, after conditioning on the five novel variants we identified the support for rs3764261 was highly reduced (βunadjusted=3.179 mg/dl (P value=5.25×10−509), βadjusted=0.859 mg/dl (P value=9.51×10−25)), and this finding suggests that these five novel variants may partly explain the association of CETP with HDL-C. Indeed, three of the five novel variants (rs34065661, rs5817082, rs7499892) are independent of rs3764261. Conclusions: The causal variants in CETP that account for the association with HDL-C remain unknown. We used studies imputed to the 1000 Genomes reference panel for fine mapping of the CETP region. We identified and validated five variants within this region that may partly account for the association of the known variant (rs3764261), as well as other sources of genetic contribution to HDL-C

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

Background So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels. Methods We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from similar to 60 000 individuals in the discovery stage and similar to 90 000 samples in the replication stage. Results Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene. Conclusions This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.Peer reviewe

"I'm still who I was" creating meaning through engagement in art: The experiences of two breast cancer survivors

a b s t r a c t Purpose: The aim of this feasibility study was two-fold: i) develop lifelike torsos of two breast cancer survivors using innovative sculpting material and; ii) shed light on the meaning women give to the experience of breast cancer after viewing their sculpted torsos. Methods: This collaborative initiative between nurse researchers and artists was situated within phenomenological inquiry. Two breast cancer survivors shared their bodies, as models, and stories of their cancer journey and the experience of modeling to create life-sized torsos of their bodies

Potentially Inappropriate Prescribing of Benzodiazepines for Older Adults and Risk of Falls During a Hospital Stay: A Descriptive Study

ABSTRACTBackground: Falls have been identified as a potential adverse event associated with the administration of psychotropic medications to older patients.Objective: The objective of this exploratory study was to examine the association between potentially inappropriate prescribing of benzodiazepines, as defined by the Beers criteria, by older adults (at least 65 years of age) and the risk of having a fall during acute inpatient care.Methods: This 1-year retrospective cross-sectional study of discharges from a tertiary care hospital in Halifax, Nova Scotia, used pharmacy data to identify the prescription of benzodiazepines listed in the updated Beers criteria as being associated with an increased risk of falls. These data were linked with information on in-hospital falls from occurrence report forms.Results: For 5831 (58.1%) of the 10 044 discharges, the patient had received a prescription for at least one benzodiazepine during the hospital stay. A total of 574 falls were reported (for 374 patients), and 226 (39.4%) of the falls resulted in an injury. According to the Beers criteria, for 936 (9.3%) of the discharges, the patient had received a prescription for at least one potentially inappropriate benzodiazepine. However, there was no statistically significant difference between patients with a prescription for a potentially inappropriate benzodiazepine and those receiving an appropriate or no benzodiazepine in terms of occurrence of falls (4.5% versus 3.8%, p = 0.30) or fall-related injuries (2.6% versus 1.8%, p = 0.08). The median length of stay was about 3 days longer for the former group (9 versus 6 days, p < 0.001).Conclusions:The findings from the current study do not support use of the Beers criteria related to benzodiazepines alone for identifying patients at risk of falls or injuries.RÉSUMÉ Contexte : Les chutes comptent parmi les effets indésirables potentiels associés à l’administration de psychotropes à des patients âgés.Objectif : L’objectif de cette étude exploratoire était d’examiner le lien entre la prescription potentiellement inappropriée de benzodiazépines, selon les critères de Beers, chez les personnes âgées (au moins 65 ans) et le risque de chute durant une hospitalisation pour soins de courte durée.Méthodes : Cette étude rétrospective transversale d’une durée d’un an des congés d’un hôpital de soins tertiaires de Halifax, en NouvelleÉcosse, a fait appel aux données de la pharmacie pour retracer la prescription de benzodiazépines répondant aux critères actualisés de Beers comme étant associé à un risque de chute accru. Ces données ont ensuite été mises en parallèle avec l’information sur les chutes survenues à l’hôpital tirée des formulaires de déclaration d’incidents.Résultats : À l’égard de 5831 (58,1%) des 10 044 congés, le patient avait reçu une ordonnance pour au moins une benzodiazépine durant son séjour à l’hôpital. Un total de 574 chutes ont été déclarées (pour 374 patients), et 226 (39,4%) de celles-ci ont causé une blessure. D’après les critères de Beers, au moins une benzodiazépine potentiellement inappropriée a été prescrite au patient à l’égard de 936 (9,3%) des congés examinés. Il n’y avait cependant aucune différence statistiquement significative dans la survenue des chutes (4,5% contre 3,8%, p = 0,30) ou dans les blessures associées aux chutes (2,6% contre 1,8%, p = 0,08) entre le groupe de patients ayant reçu une ordonnance pour une benzodiazépine potentiellement inappropriée et celui ayant reçu une benzodiazépine appropriée ou n’en n’ayant pas reçu. La durée médiane du séjour à l’hôpital était d’environ trois jours de plus pour le premier groupe (9 contre 6 jours, p < 0,001).Conclusions : Les résultats de cette étude ne corroborent pas l’emploi des critères de Beers associés aux benzodiazépines seules pour dépister les patients à risque de chutes ou de blessures