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

An Intergenerational Approach to Cardiovascular Health and Childhood Obesity Prevention

Cardiovascular disease (CVD) is the leading cause of death both globally and in the United States. Obesity is a well-established risk factor for CVD with strong intergenerational linkages. Poor cardiovascular health and obesity tend to cluster in families due to common genetics and the shared obesogenic environment, including poor diet and low levels of activity. Previous literature consistently demonstrates the intergenerational transmission of cardiovascular risks and obesity from parent to child, especially among older children and adolescents. The transmission of obesity extends even further from maternal grandmother to young grandchildren. In order to reduce disease burden and promote health in future generations, it is imperative to understand the complexities of health risk transmission by identifying socioeconomic, intrapersonal, and interpersonal factors within an intergenerational family context that may contribute to family health behaviors and outcomes of CVD and obesity.&nbsp;&nbsp; &nbsp; &nbsp; The current dissertation study outlines three sub-studies that encapsulate an intergenerational approach to cardiovascular health and childhood obesity prevention. Based on a review of the literature assessing intergenerational transmission of CVD risks, a majority of studies have been conducted outside the U.S., and studies that have been conducted in the U.S. have not examined Hispanic American families who are disproportionately affected by both higher rates of obesity and hypertension. Seeking to fill this gap in the literature, the first sub-study’s objectives examined: 1) The relationship between parental BMI and adolescent BMI; and 2) The relationship between parental blood pressure and adolescents’ blood pressure in a sample of Hispanic parents and adolescents (n=280) using baseline data from an obesity-focused efficacy trial. Results from a series of logistic regression models showed that parent obesity contributed to a higher likelihood of adolescents being severely obese when compared to reference groups of both overweight adolescents and obese adolescents even after controlling for adolescent lifestyle behaviors and parental education. Compared to those of normal blood pressure status, adolescents of parents with elevated blood pressure/hypertension were more likely to have elevated blood pressure even after controlling for adolescent lifestyle behaviors. Similarly, elevated blood pressure/hypertension in parents resulted in a greater likelihood of adolescents’ hypertension.&nbsp; &nbsp; &nbsp; Secondly, the extant research has not explored discordant parent-adolescent pairs with regard to weight status (e.g., parent in the overweight (OW) or obese (OB) weight range and adolescent in the normal weight range; adolescent in the OW/OB weight range and parent in the normal weight range) and has largely focused on concordant intergenerational relationships for cardiovascular indicators, weight status, and lifestyle behaviors. Elucidating mechanisms that contribute to differential health behaviors and outcomes in parents and children can help in identifying risk and protective factors for future family-based intervention targets. Using baseline data from the National Cancer Institute’s Family Life, Activity, Sun, Health, and Eating (FLASHE) study on parents and adolescents (n=1,516), the second sub-study’s objectives examined: 1) Distinct concordance and discordance of parent-adolescent BMI patterns; and 2) Multiple sociodemographic, individual-level (i.e., individuals’ healthy behaviors and psychosocial factors), and family-level factors (i.e., domain-specific parenting practices and access and availability in home environment) and their associations with distinct concordance and discordance of parent-adolescent BMI patterns. To examine unique (additive) effects of all sociodemographic, individual-level, and family-level factors on distinct patterns of parent-adolescent BMI, a series of stepwise multinomial logistic regression models were run. Fathers (vs. mothers), low socioeconomic status (SES), and identifying as non-White (i.e., Hispanic, Black, or Other) were significantly associated with parent-adolescent dyads being more likely to be in either Unhealthy Discordance-does not favor parent or Unhealthy Concordance BMI pattern groups than the Healthy Concordance group, which held after adjusting for both individual-level and family-level predictors. Intrapersonal (psychosocial) factors of emotional eating and self-efficacy for physical activity (PA) were significant and strong predictors of parent-adolescent BMI patterns.&nbsp;&nbsp; &nbsp; &nbsp; Lastly, an emerging body of literature reveals that intergenerational clustering of obesity among family members extends beyond parents, with grandparent obesity being linked to grandchild obesity. Research has shown that grandparents tend to have an adverse impact on their grandchildren’s health behaviors and weight status, despite their desire to be advocates for their grandchildren’s healthy behaviors. Thus, designing health promotive interventions to address this need may simultaneously aim to halt the transmission of obesity and CVD risk factors. Using a user-centered design approach, the third study sub-study sought to conduct formative work to inform the design of an intergenerational PA program for grandparents and grandchildren (ages of 6-12 years old) among an ethnically diverse population. Grandparent participants (n=35) completed a quantitative survey, with a subset (n=12) being invited back for in-depth qualitative interviews. The quantitative results revealed that the majority of grandparents reported mobile device proficiency, very close relationships with their grandchildren, and interest in participating in an intergenerational intervention. Four key themes emerged from the interviews as intervention considerations: 1) Enhance their existing close and loving bonds with grandchildren; 2) Consider how grandparents navigate their grandparent role with parents as gatekeepers; 3) Address challenges in keeping up with grandchildren and competing with school activities; and 4) Leverage grandchildren’s technology proficiency to improve health. An 8-week, technology-based intergenerational PA intervention for grandparents and grandchildren was developed based on these findings and is ready for pilot testing.&nbsp; &nbsp; &nbsp; In summary, the findings from this dissertation study highlight the strong intergenerational relationships among parents, children, and grandparents. Future research should be focused on culturally relevant interventions that can simultaneously reduce cardiovascular disease risks among ethnically diverse families by supporting both parents and grandparents in adopting strategies that can help improve lifestyle behaviors and promote healthy lifestyle behaviors in children.</p

Intergenerational Determinants of Weight Status Concordance and Discordance in Parent/Adolescent Dyads from the Family Life, Activity, Sun, Health, and Eating Study

Studies have shown that obesity (OB) has strong intergenerational linkages and tends to cluster in families, but there is a dearth of research examining the socioecological factors predictive of weight status concordance and discordance among parents and adolescents. We ran a stepwise multinomial logistic regression to assess for sociodemographic, individual-, and family-level predictors of four dyadic weight status groups using data from 1516 parent/adolescent dyads from the National Cancer Institute's Family Life, Activity, Sun, Health, and Eating Study. We categorized parent/adolescent dyads into one of four groups based on their BMI: (1) Healthy Weight Concordance ( , both parent and adolescent in the normal weight range); (2) overweight (OW)/OB Concordance ( , both parent and adolescent with OW or OB); (3) Discordance-Parent OW/OB ( , parent with OW/OB and adolescent in the normal weight range); or (4) Discordance-Adolescent OW/OB ( , adolescent with OW/OB and parent in the normal weight range). There were 475 parent/adolescent dyads (31.3%) in the Healthy Weight Concordance group, 351 (23.2%) in the OW/OB Concordance group, 604 (39.8%) in the Discordance-Parent OW/OB group, and 86 (5.7%) in the Discordance-Adolescent OW/OB group. Being from a low socioeconomic family, identifying as a minority, and identifying as a male parent were associated with an OW/OB dyadic BMI. Higher levels of adolescent and parent emotional eating were significantly associated with parent/adolescent dyads being in the OW/OB Concordance group. Parent emotional eating was also associated with Discordance-Parent OW/OB. In contrast, parents' and adolescents' physical activity self-efficacy was associated with a Healthy Weight dyadic BMI vs. OW/OB Concordance or Discordance-Parent OW/OB. Our findings highlight the strength of OW/OB concordance in families, especially among lower socioeconomic and ethnic minority families and the significance of emotional eating and physical activity self-efficacy in contributing to BMI patterns among parents and adolescents

Getting what they need when they need it

Background Consumer health informatics (CHI) such as web-based applications may provide the platform for enabling the over 15 million family caregivers of patients with Alzheimer’s Disease or related dementias the information they need when they need it to support behavioral symptom management. However, for CHI to be successful, it is necessary that it be designed to meet the specific information needs of family caregivers in the context in which caregiving occurs. A sociotechnical systems approach to CHI design can help to understand the contextual complexities of family caregiving and account for those complexities in the design of CHI for family caregivers. Objectives This study used a sociotechnical systems approach to identify barriers to meeting caregivers’ information needs related to the management of dementia-related behavioral symptoms, and to derive design implications that overcome barriers for caregiver-focused web-based platforms. We have subsequently used these design implications to inform the development of a web-based platform, WeCareAdvisor,TM which provides caregivers with information and an algorithm by which to identify and manage behavioral symptoms for which they seek management strategies. Methods We conducted 4 focus groups with family caregivers (N=26) in a Midwestern state. Qualitative content analysis of the data was guided by a sociotechnical systems framework.Results We identified nine categories of barriers that family caregivers confront in obtaining needed information about behavioral symptom management from which we extrapolated design implications for a web-based platform. Based on interactions within the sociotechnical system, three critical information needs were identified: 1) timely access to information, 2) access to information that is tailored or specific to caregiver’s needs and contexts, and 3) usable information that can directly inform how caregivers’ manage behaviors. Conclusions The sociotechnical system framework is a useful approach for identifying information needs of family caregivers to inform design of web-based platforms that are user-centered.National Institutes of Health (NIH Grant #5R01NR014200–03)Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/163975/1/Werner et al_Getting what they need when they _ ACI-08-0191.pdfDescription of Werner et al_Getting what they need when they _ ACI-08-0191.pdf : Main articl

Getting what they need when they need it

BackgroundConsumer health informatics (CHI) such as web-based applications may provide the platform for enabling the over 15 million family caregivers of patients with Alzheimer's Disease or related dementias the information they need when they need it to support behavioral symptom management. However, for CHI to be successful, it is necessary that it be designed to meet the specific information needs of family caregivers in the context in which caregiving occurs. A sociotechnical systems approach to CHI design can help to understand the contextual complexities of family caregiving and account for those complexities in the design of CHI for family caregivers.ObjectivesThis study used a sociotechnical systems approach to identify barriers to meeting caregivers' information needs related to the management of dementia-related behavioral symptoms, and to derive design implications that overcome barriers for caregiver-focused web-based platforms. We have subsequently used these design implications to inform the development of a web-based platform, WeCareAdvisor,TM which provides caregivers with information and an algorithm by which to identify and manage behavioral symptoms for which they seek management strategies.MethodsWe conducted 4 focus groups with family caregivers (N=26) in a Midwestern state. Qualitative content analysis of the data was guided by a sociotechnical systems framework.ResultsWe identified nine categories of barriers that family caregivers confront in obtaining needed information about behavioral symptom management from which we extrapolated design implications for a web-based platform. Based on interactions within the sociotechnical system, three critical information needs were identified: 1) timely access to information, 2) access to information that is tailored or specific to caregiver's needs and contexts, and 3) usable information that can directly inform how caregivers' manage behaviors.ConclusionsThe sociotechnical system framework is a useful approach for identifying information needs of family caregivers to inform design of web-based platforms that are user-centered

Use of Fitbit Devices in Physical Activity Intervention Studies Across the Life Course: Narrative Review

BACKGROUND: Commercial off-the-shelf activity trackers (eg, Fitbit) allow users to self-monitor their daily physical activity (PA), including the number of steps, type of PA, amount of sleep, and other features. Fitbits have been used as both measurement and intervention tools. However, it is not clear how they are being incorporated into PA intervention studies, and their use in specific age groups across the life course is not well understood. OBJECTIVE: This narrative review aims to characterize how PA intervention studies across the life course use Fitbit devices by synthesizing and summarizing information on device selection, intended use (intervention vs measurement tool), participant wear instructions, rates of adherence to device wear, strategies used to boost adherence, and the complementary use of other PA measures. This review provides intervention scientists with a synthesis of information that may inform future trials involving Fitbit devices. METHODS: We conducted a search of the Fitabase Fitbit Research Library, a database of studies published between 2012 and 2018. Of the 682 studies available on the Fitabase research library, 60 interventions met the eligibility criteria and were included in this review. A supplemental search in PubMed resulted in the inclusion of 15 additional articles published between 2019 and 2020. A total of 75 articles were reviewed, which represented interventions conducted in childhood; adolescence; and early, middle, and older adulthood. RESULTS: There was considerable heterogeneity in the use of Fitbit within and between developmental stages. Interventions for adults typically required longer wear periods, whereas studies on children and adolescents tended to have more limited device wear periods. Most studies used developmentally appropriate behavior change techniques and device wear instructions. Regardless of the developmental stage and intended Fitbit use (ie, measurement vs intervention tool), the most common strategies used to enhance wear time included sending participants reminders through texts or emails and asking participants to log their steps or synchronize their Fitbit data daily. The rates of adherence to the wear time criteria were reported using varying metrics. Most studies supplemented the use of Fitbit with additional objective or self-reported measures for PA. CONCLUSIONS: Overall, the heterogeneity in Fitbit use across PA intervention studies reflects its relative novelty in the field of research. As the use of monitoring devices continues to expand in PA research, the lack of uniformity in study protocols and metrics of reported measures represents a major issue for comparability purposes. There is a need for increased transparency in the prospective registration of PA intervention studies. Researchers need to provide a clear rationale for the use of several PA measures and specify the source of their main PA outcome and how additional measures will be used in the context of Fitbit-based interventions

Predictors of Participant Attendance Patterns in a Family-Based Intervention for Overweight and Obese Hispanic Adolescents

This study examined participant attendance patterns and individual (e.g., income), family dynamics (e.g., communication), and cultural (i.e., Americanism, Hispanicism) predictors of these patterns among Hispanic families enrolled in a 12-week family-based intervention, Familias Unidas for Health and Wellness. Hispanic adolescents (n = 140, 49% female, 13.04 &plusmn; 0.87 years old, 36% overweight, 64% obese, 39% immigrants) and their parents (87% female, 42.09 &plusmn; 6.30 years old, BMI 30.99 &plusmn; 6.14 kg/m2, 90% immigrants) were randomized to the intervention condition. A repeated measures latent class analysis that included 12 binary variables (yes/no) of attendance identified three subgroups of attendance patterns: consistently high, moderate and decreasing, and consistently low. An ANOVA was then conducted to examine whether the identified attendance patterns differed by individual, family dynamics, and cultural characteristics at baseline. Parents in the consistently high attendance group had lower Americanism than those in either of the other attendance groups. Adolescents in the consistently high attendance group had lower Hispanicism than those in either of the other attendance groups. No other variables significantly discriminated between attendance groups. Sustained attendance in the Familias Unidas for Health and Wellness intervention may be driven by Hispanic parents&rsquo; desire to better understand their host culture, connect with other culturally similar parents, and reconnect adolescents with their heritage culture

Predictors of Participant Attendance Patterns in a Family-Based Intervention for Overweight and Obese Hispanic Adolescents

This study examined participant attendance patterns and individual (e.g., income), family dynamics (e.g., communication), and cultural (i.e., Americanism, Hispanicism) predictors of these patterns among Hispanic families enrolled in a 12-week family-based intervention, Familias Unidas for Health and Wellness. Hispanic adolescents ( = 140, 49% female, 13.04 ± 0.87 years old, 36% overweight, 64% obese, 39% immigrants) and their parents (87% female, 42.09 ± 6.30 years old, BMI 30.99 ± 6.14 kg/m², 90% immigrants) were randomized to the intervention condition. A repeated measures latent class analysis that included 12 binary variables (yes/no) of attendance identified three subgroups of attendance patterns: consistently high, moderate and decreasing, and consistently low. An ANOVA was then conducted to examine whether the identified attendance patterns differed by individual, family dynamics, and cultural characteristics at baseline. Parents in the consistently high attendance group had lower Americanism than those in either of the other attendance groups. Adolescents in the consistently high attendance group had lower Hispanicism than those in either of the other attendance groups. No other variables significantly discriminated between attendance groups. Sustained attendance in the Familias Unidas for Health and Wellness intervention may be driven by Hispanic parents' desire to better understand their host culture, connect with other culturally similar parents, and reconnect adolescents with their heritage culture

The Effects of Parent-Adolescent Acculturation Gaps on Adolescent Lifestyle Behaviors: Moderating Role of Family Communication

Public Significance Statement Discrepancies in acculturation among Hispanic parents and adolescents have been shown to influence family conflict and youth behavior problems, however, the association with healthy lifestyle behaviors is unknown. This study found that Hispanic adolescents consume less fruits and vegetables when they differ in American acculturation with their parents and when they perceive low levels of family communication. This study examined (a) associations between parent-adolescent acculturation gaps in Americanism and Hispanicism and adolescents' lifestyle behaviors (fruit and vegetable intake and physical activity) and (b) the moderating roles of adolescent- and parent-reported family communication on these associations. Hispanic adolescents with overweight or obesity (n = 280; 52% female, 13.0 +/- 0.8 years old) and their parents (88% female, 44.9 +/- 6.5 years old) completed baseline measures on acculturation, family communication, weekly physical activity, and daily fruit and vegetable intake as part of their participation in a family-based health promotion efficacy trial. Acculturation gaps were calculated by taking the product of adolescent and parent scores for each subscale (Americanism and Hispanicism). We conducted multiple linear regression analyses with three-way interaction terms (e.g., Parent Americanism x Adolescent Americanism x family communication) to assess for moderation. Family communication significantly moderated the association between parent-adolescent acculturation gaps in Americanism and adolescent fruit and vegetable intake. For families with low adolescent-reported family communication, parent-adolescent discrepancies in Americanism were associated with lower adolescent fruit and vegetable intake whereas there were no significant associations for families with high family communication. There were no effects on weekly minutes of physical activity. Acculturation gaps in Hispanicism were not significantly associated with either outcome. Findings highlight the importance of parent-adolescent acculturation gaps and family communication on fruit and vegetable intake for Hispanic adolescents. Targeting parent-adolescent acculturation gaps for families with low levels of communication may be important to improve dietary behaviors in Hispanic adolescents, who are already disproportionately affected by obesity

Pediatric Obesity Prevention and Treatment Among Hispanics: A Systematic Review and Meta-Analysis

Introduction: The rates of pediatric obesity in the U.S. are highest among Hispanics. There is no existing meta-analysis of the effects of obesity interventions among Hispanic youth. This systematic review and meta-analysis assesses the effects of obesity prevention and treatment interventions on Hispanic youth's weight status and lifestyle behaviors. Methods: PubMed, PsycINFO, and Scopus were searched between January 1, 2000 and October 30, 2020. Interventions with >= 50% Hispanic youth aged 0-18 years were included. Using a weighted inverse-variance procedure, fixed-effects and random-effects models were run for an overall effect size on the basis of the Q(total) test statistic. Hedges' g was calculated for outcomes of interest between baseline and postintervention separately for studies with multiple versus single conditions. Continuous and categorical moderators were also examined. Results: A total of 1,103 articles were screened, of which 117 were included in the narrative synthesis and 105 in the meta-analysis (n=49,276 youth). The overall effects for RCT/quasi-experimental studies on BMI status (g=-0.15, SE=0.03, 95% CI=-0.20, -0.10), waist circumference (g=-0.15, SE=0.10, 95% CI=-0.35, -0.05), physical activity (g=0.12, SE=0.05, 95% CI=0.03, 0.22), fruit and vegetable intake (g=0.08, SE=0.02, 95% CI=0.03, 0.12), and sugar-sweetened beverage intake (g=-0.07, SE=0.03, 95% CI=-0.13, -0.01) were small. Intervention effects varied by participant developmental stage, SES, study setting, and lifestyle behavior target. Discussion: Beyond developing more impactful interventions to address obesity among Hispanic youth, findings highlight the need for targeted policies and more easily disseminable interventions that can spread small effects across a population for maximal public health impact. (C) 2021 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved