Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies.

BACKGROUND: Precision medicine in oncology relies on rapid associations between patient-specific variations and targeted therapeutic efficacy. Due to the advancement of genomic analysis, a vast literature characterizing cancer-associated molecular aberrations and relative therapeutic relevance has been published. However, data are not uniformly reported or readily available, and accessing relevant information in a clinically acceptable time-frame is a daunting proposition, hampering connections between patients and appropriate therapeutic options. One important therapeutic avenue for oncology patients is through clinical trials. Accordingly, a global view into the availability of targeted clinical trials would provide insight into strengths and weaknesses and potentially enable research focus. However, data regarding the landscape of clinical trials in oncology is not readily available, and as a result, a comprehensive understanding of clinical trial availability is difficult. RESULTS: To support clinical decision-making, we have developed a data loader and mapper that connects sequence information from oncology patients to data stored in an in-house database, the JAX Clinical Knowledgebase (JAX-CKB), which can be queried readily to access comprehensive data for clinical reporting via customized reporting queries. JAX-CKB functions as a repository to house expertly curated clinically relevant data surrounding our 358-gene panel, the JAX Cancer Treatment Profile (JAX CTP), and supports annotation of functional significance of molecular variants. Through queries of data housed in JAX-CKB, we have analyzed the landscape of clinical trials relevant to our 358-gene targeted sequencing panel to evaluate strengths and weaknesses in current molecular targeting in oncology. Through this analysis, we have identified patient indications, molecular aberrations, and targeted therapy classes that have strong or weak representation in clinical trials. CONCLUSIONS: Here, we describe the development and disseminate system methods for associating patient genomic sequence data with clinically relevant information, facilitating interpretation and providing a mechanism for informing therapeutic decision-making. Additionally, through customized queries, we have the capability to rapidly analyze the landscape of targeted therapies in clinical trials, enabling a unique view into current therapeutic availability in oncology.

Preserving Identity and Planning for Advance Care (PIPAC): preliminary outcomes from a patient-centered intervention for individuals with mild dementia.

OBJECTIVES: The purpose of this pilot study was to conduct limited-efficacy testing of the newly developed Preserving Identity and Planning for Advance Care (PIPAC) intervention on self-reported and proxy-reported emotional and health-related outcomes of individuals in the early stages of dementia. METHOD: A two-group comparison design was implemented. Blocked randomization was used to assign individuals with mild dementia and a family contact to either (1) the four-session, multi-component intervention group focused on reminiscence and future planning or (2) the minimal support phone contact comparison group. Of the 19 enrolled dyads, 18completed post-treatment assessments (i.e. 10 intervention and 8 comparison group). Individuals with dementia were M=82.8 (SD=6.46) years old; 31.6% were men and 68.4% were women. Participants were predominantly white/Caucasian (n=18, 94.7%) with one black/African-American (5.3%). RESULTS: Analyses of covariance controlling for baseline differences revealed clinically meaningful differences (with medium to large effect sizes) between groups at post-treatment for depressive symptoms, quality of life, health-related quality of life indicators, and decisional conflict. Individuals in the intervention group were also observed to exhibit higher levels of coping. Feasibility data collected from participants and interventionists were encouraging. CONCLUSION: Emotion-focused, patient-centered interventions like PIPAC hold promise for advancing treatment options in the early and mild stages of dementia. A full-scale, randomized clinical trial of this intervention is warranted to determine both short-term and long-term impacts on clinical outcomes including improved depressive symptomatology, quality of life, and health-related factors that impact daily functioning in social environments.

Whom do veteran nursing home residents prefer to talk to about satisfaction with care?: implications for nursing staff.

The purpose of this study was to determine whom residents in U.S. Department of Veterans Affairs (VA) nursing homes prefer to talk to about their quality of care. A total of 127 participants in three VA facilities completed a structured, in-person interview. Nearly half (47.6%) reported that they prefer talking with facility staff about their quality of care, with the most preferred staff being licensed nurses and physicians. However, 26% reported being hesitant to express complaints for fear of reprisal. Participants also reported being least comfortable talking to direct care staff (nurse aides) if they saw another resident being mistreated. These findings suggest that licensed nurses and primary care professionals, both of whom are in frequent contact with residents, should routinely ask residents questions about their quality of care so that nursing home residents have ample opportunity to express concerns. Finally, asking satisfaction questions routinely may also enable facilities to address problems as they occur.

Adult Protective Services workers' experiences with serious illness and death.

This study examined the emerging issue of experiences with end-of-life issues in adult protection. A national survey of adult protective services (APS) workers (N=508) examined encounters with serious illness, injury, death, and bereavement and how these situations were handled professionally and personally. APS workers often encountered clients and caregivers with life-threatening illnesses, and clients receiving hospice services. About three-quarters had worked on at least one case involving a client's death. Overall, more education and training about serious and terminal illness, death, grief, and bereavement is needed to prepare APS workers to work with clients and their families facing a variety of end-of-life situations.

Adolescent drug use initiation and transition into other drugs: A retrospective longitudinal examination across race/ethnicity.

BACKGROUND: Understanding adolescent drug use mechanisms is critical for drug use prevention. Although some theories such as the gateway theory suggest that drug users gradually transition into using more addictive drugs, there is no consensus about such a hypothesis. One important factor that hinders the advancement of knowledge in this area is the scarcity of longitudinal studies examining the type of drugs adolescents initially use and the different pathways adolescents take to transition into using other drugs as they grow older. METHODS: Using the pooled sample of adolescent dug users (14-17 years old; n = 10,644) from the National Survey on Drug Use and Health (2015-2018), we constructed longitudinal data on adolescents' illicit drug use history other than the use of tobacco and alcohol based on the age of drug initiation. This allowed us to investigate what drugs were initially used by adolescents, how the use of these drugs may have progressed into a new drug, and whether there were racial/ethnic differences in the initiation and progression. The retrospective longitudinal data analyses applied life table method and Cox regression models. RESULTS: Two thirds of the adolescent drug users initiated their drug use trajectories with marijuana, one quarter with inhalants, and the remaining with hallucinogens, prescription drugs, and hard drugs. Adolescent drug users who initiated with different drugs showed unique trajectories to the use of a new drug. By year 8, the probability of using a new drug was about 40% and 70% to 80% for adolescents who initiated with inhalants and other drugs, respectively. The probability of using a new drug for adolescents who initiated with marijuana and inhalants accumulated stably over time, and its difference with that of other drug users diminished over time. The multivariate Cox regression models suggest the observed discrepancies generally held after controlling for covariates. There were also racial/ethnic differences in adolescent drug use initiation and progression, with Black/African American adolescents being the least likely to switch to the use of a new drug. CONCLUSION: Adolescents' initial use of marijuana and inhalants may lead to substantial risks of using other drugs over time. It is therefore important to screen adolescent drug use comprehensively and provide early interventions to prevent an escalation to more detrimental drugs. The findings provide new evidence to support aspects of both the gateway and generalized risk drug use theories.

Perceived income inadequacy as a predictor of psychological distress in Alzheimer's caregivers.

The authors examined perceived income inadequacy as a predictor of self-reported depressive symptomatology and anxiety in the original sites of the Resources for Enhancing Alzheimer's Caregiver Health I project. Perceived income inadequacy, self-reported household income, and control factors (e.g., subjective health) were entered into hierarchical regression analyses predicting psychological distress. Findings suggest that perceived income inadequacy and not household income significantly predicted more self-reported depressive symptomatology and greater self-reported anxiety. This supports previous findings that objective income measures alone are not adequate indicators of socioeconomic status in older adults.

Perceived educational needs and preparation of adult protective services workers for practice with end-of-life issues.

As the number of older adults in the United States increases, so will the expected number of allegations of elder abuse. Adult protective services (APS) staff are likely to handle much more complex situations, and in growing numbers, due to the presence of chronic and life-limiting conditions of their clients. The APS workers, in this national study, identified frequent encounters with older adults with serious illnesses. However, less than one half received educational content about issues of death and dying in their degree programs, and only slightly more than one half reported ever attending a continuing education program on these topics. They perceived the greatest educational need for content about practical resources, the use of advance directives, and making end-of-life decisions. The indication also given by these respondents was that end-of-life issues were among the most difficult situations they faced in practice. This warrants a call for increased end-of-life content in educational degree programs and continuing education.

Work Stress and Depressive Symptoms in Chinese Migrant Workers: The Moderating Role of Community Factors.

This study aimed to examine depressive symptoms in ruralurban migrant workers in mainland China, with a focus on the moderating roles of community factors (i.e., community support network, community cohesion and community composition) in the relation between work stress and depressive symptoms. This study used secondary data from a national representative study conducted by the Social Survey Center at SUN-YETSEN University of China in 2014. The final sample contained 1434 participants from 29 provinces of China (Mean age = 36.47, SD = 11.91). Being female, lower self-rated health, lower levels of self-rated class, lower levels of community cohesion and higher work stress were related to higher depressive symptoms. Community cohesion was found to lessen the migrant workers depressive symptoms but was not identified as a moderator for work stress and depressive symptoms. Community supportive networks moderated the relation between work stress and depressive symptoms. Rural-urban migrant workers in China experienced high work stress and high depressive symptoms. Public health policies or programs should help expand and strengthen migrant workers' supportive network size, and facilitate the creation of community cohesion to lessen depressive symptoms.

"It Was Very Rewarding for Me ": Senior Volunteers' Experiences With Implementing a Reminiscence and Creative Activity Intervention.

PURPOSE OF THE STUDY: To describe the experience of recruiting, training, and retaining retired senior volunteers (RSVs) as interventionists delivering a successful reminiscence and creative activity intervention to community-dwelling palliative care patients and their caregivers. DESIGN AND METHODS: A community-based participatory research framework involved Senior Corps RSV programs. Recruitment meetings and feedback groups yielded interested volunteers, who were trained in a 4-hr session using role plays and real-time feedback. Qualitative descriptive analysis identified themes arising from: (a) recruitment/feedback groups with potential RSV interventionists; and (b) individual interviews with RSVs who delivered the intervention. RESULTS: Themes identified within recruitment/feedback groups include questions about intervention process, concerns about patient health, positive perceptions of the intervention, and potential characteristics of successful interventionists. Twelve RSVs achieved 89.8% performance criterion in treatment delivery. Six volunteers worked with at least one family and 100% chose to work with additional families. Salient themes identified from exit interviews included positive and negative aspects of the experience, process recommendations, reactions to the Interventionist Manual, feelings arising during work with patient/caregiver participants, and personal reflections. Volunteers reported a strong desire to recommend the intervention to others as a meaningful volunteer opportunity. IMPLICATIONS: RSVs reported having a positive impact on palliative care dyads and experiencing personal benefit via increased meaning in life. Two issues require further research attention: (a) further translation of this cost-effective mode of treatment delivery for palliative dyads and (b) further characterization of successful RSVs and the long-term impact on their own physical, cognitive, and emotional functioning.

The impact of family visitation on feeding assistance quality in nursing homes.

The purpose of this study was to determine: (a) the frequency of family visitation during mealtime and (b) whether the presence of family during meals had an impact on the quality of feeding assistance care and resident intake. Participants included 74 nursing home residents from two Veterans Affairs (VA) and four community facilities in one geographic region. Mealtime periods in which family was present were compared with mealtime periods when family was not present for the same resident. Results showed that family visitation was infrequent during mealtime; however, feeding assistance time was significantly higher when visitors were present. Despite the increase in assistance time, there was not a significant difference in intake. Strategies that encourage the involvement of family in mealtime assistance may have additional benefits not directly associated with meal consumption, including providing family members with meaningful activity during a visit and enhancing residents' quality of life and well-being.

The value of resident choice during daily care: do staff and families differ?

Allowing long-term care (LTC) residents to make choices about their daily life activities is a central tenet of resident-centered care. This study examined whether staff and family rated care episodes involving choice differently from care episodes not involving choice. Seventeen nurse aide and 15 family participants were shown paired video vignettes of care interactions. Participants were asked to rate their preferred care vignette using a standardized forced-choice questionnaire. Focus groups were held separately for staff and family members following this rating task to determine reasons for their preferences. Both staff and family rated the vignettes depicting choice as "strongly" preferred to the vignettes without choice. Reasons provided for the preference ratings during the focus group discussions related to resident well-being, sense of control, and respondents' own personal values. These findings have implications for LTC staff training related to resident-centered care to promote choice.

A controlled trial of an intervention to increase resident choice in long term care.

OBJECTIVE: The purpose of this study was to evaluate an intervention to improve staff offers of choice to nursing home residents during morning care. DESIGN: A controlled trial with a delayed intervention design. SETTING: Four community, for-profit nursing homes. PARTICIPANTS: A total of 169 long-stay nursing home residents who required staff assistance with morning care and were able to express their care preferences. INTERVENTION: Research staff held weekly training sessions with nurse aides (NAs) for 12 consecutive weeks focused on how to offer choice during four targeted morning care areas: when to get out of bed, when to get dressed/what to wear, incontinence care (changing and/or toileting), and where to dine. Training sessions consisted of brief video vignettes illustrating staff-resident interactions followed by weekly feedback about how often choice was being provided based on standardized observations of care conducted weekly by research staff. MEASUREMENTS: Research staff conducted standardized observations during a minimum of 4 consecutive morning hours per participant per week for 12 weeks of baseline and 12 weeks of intervention. RESULTS: There was a significant increase in the frequency that choice was offered for 3 of the 4 targeted morning care areas from baseline to intervention: (1) out of bed, 21% to 33% (P < .001); dressing, 20% to 32% (P < .001); incontinence care, 18% to 23%, (P < .014). Dining location (8% to 13%) was not significant. There was also a significant increase in the amount of NA staff time to provide care from baseline to intervention (8.01 ± 9.0 to 9.68 ± 9.9 minutes per person, P < .001). CONCLUSION: A staff training intervention improved the frequency with which NAs offered choice during morning care but also required more time. Despite significant improvements, choice was still offered one-third or less of the time during morning care.

A staff training and management intervention in VA long-term care: impact on feeding assistance care quality.

Efforts to translate efficacious interventions into long-term care practice have had limited success due to the lack of consideration of key translational intervention components. A multi-faceted intervention was implemented in two veteran affairs facilities to improve feeding assistance care. There were three study phases: baseline, intervention, and follow-up. During each phase, trained research staff conducted standardized observations of 12 meals/participant to assess feeding assistance care quality. The staff received three initial training sessions followed by six consecutive weeks of feedback sessions wherein the observation-based care process measures were shared with the staff. There were significant, but modest, improvements in mealtime feeding assistance care processes, and most of the improvements were maintained during follow-up. A multi-faceted intervention resulted in significant, but modest, improvements in mealtime feeding assistance care quality. Organizational (staff schedules, communication) and environmental (dining location) barriers were identified that interfered with improvement efforts.

The quality of feeding assistance care practices for long-term care veterans: implications for quality improvement efforts.

The primary purpose of this study was to determine the quality of feeding assistance care and identify areas in need of improvement for a sample of long-term care veterans. A secondary purpose was to compare these findings with the results of previous studies in community facilities to determine ways in which the VA sample might differ. A repeated measures observational study was conducted in two VA facilities with 200 long-stay residents. Research staff conducted standardized observations during and between meals for 3 months. There was a trend for better feeding assistance care quality during meals in the VA sample, but there were still multiple aspects of care in need of improvement both during and between meals. Higher licensed nurse staffing levels in the VA should enable effective supervision and management, but observation-based measures of care quality are necessary for accurate information about daily feeding assistance care provision.

Resident characteristics related to the lack of morning care provision in long-term care.

PURPOSE: The purpose of this study was to examine usual long-term care (LTC) practices related to 3 aspects of morning care and determine if there were resident characteristics related to the lack of care. DESIGN AND METHODS: Participants were 169 long-stay residents in 4 community LTC facilities who required staff assistance with either transfer out of bed, dressing, and/or incontinence care and were able to respond to structured interview questions about their morning care preferences. Trained research staff conducted standardized observations during 4 consecutive morning hours once per week per participant for 3 consecutive months during usual LTC conditions and interviewed participants about their morning care preferences using a structured interview protocol once per month during this same time period. RESULTS: Overall, 40% of the observations showed a lack of morning care provision, including any staff-resident communication about care, during the 4-hr observation period. Participants rated by staff as more physically dependent and requiring 2 staff for transfer were more likely to not receive morning care. Even when care in a particular area was absent, the majority of participants expressed a stable preference for care to remain the "same" (range of proportions was .75 to .87 for the 3 targeted care areas) and infrequently made requests for care. IMPLICATIONS: Efforts to promote resident-directed care should consider staffing issues related to missed care occurrences and resident issues related to level of dependency on staff as well as reduced expectations for care, which can lead to resident acceptance of low care frequencies.

Predicting desire for institutional placement among racially diverse dementia family caregivers: the role of quality of care.

PURPOSE: Literature on institutionalization of patients with dementia has not considered the role of caregivers' quality of care, which encompasses caregivers' exemplary care (EC) behaviors and caregivers' potentially harmful behaviors (PHBs) toward care recipients. This study sought to understand the role of quality of care in mediating between caregiving stressors and caregiver desire to institutionalize (DTI) a patient with dementia. DESIGN AND METHODS: A sample of 612 family caregivers from diverse racial/ethnic backgrounds was drawn from the baseline data of the Resources for Enhancing Alzheimer's Caregiver Heath (REACH II) project. Multiple mediator models were run using Preacher and Hayes asymptotic and resampling strategies to assess direct and indirect effects of caregiver stressors (daily care bother, behavioral bother, and burden) on caregiver desire to institutionalize a patient with dementia. RESULTS: Overall, PHB was positively related to caregiver desire to institutionalize their care recipients. Specifically, PHB was found to mediate the relationship between caregiving stressors and DTI in the Caucasian and Latino groups, whereas only the mediation effect of EC was significant in the African American group. IMPLICATIONS: Caregivers' perceptions of quality of care helped explain their desire to institutionalize their care recipients with dementia. Including assessment of EC and PHB in clinical and social service settings is recommended for all ethnic groups. Interventions should facilitate EC behaviors among African American caregivers and address concerns of PHBs in Caucasian and Latino caregivers.

Evaluation of two fatigability severity measures in elderly adults.

OBJECTIVES: To document the stability, concurrent validity, and clinical correlates of two fatigability severity measures as recommended by the American Geriatrics Society. DESIGN: Descriptive, cross-sectional. SETTING: Two independent living and one community senior centers. PARTICIPANTS: Forty-three participants, with an average age 85 ± 6. MEASUREMENTS: Perceived fatigability severity was quantified by directly asking participants to report change in energy after a standardized 10-minute walk at a self-selected pace. Performance fatigability severity was defined as a ratio of change in walking speed to total distance walked. The walk test was repeated within 2 weeks to assess stability. Total daily physical activity (PA) was measured over 7 consecutive days using a waist-worn accelerometer. Frailty was measured using the Vulnerable Elders Survey interview scale, and gait speed was measured using a standardized 25-feet walk test. RESULTS: The perceived and performance fatigability severity measures were significantly correlated (correlation coefficient (r) = 0.94, P < .001) and stable over two assessments (r = 0.82 and 0.85, P < .001). Both fatigability severity measures were significantly correlated with PA level (r = -0.42 and r = -0.44, respectively, P = .02), frailty (r = 0.47 and 0.53, respectively, P = .001) and gait speed (r = -0.45, P = .003 and r = -0.54, P = .001, respectively). CONCLUSION: The methodology described in this study permits the calculation of two highly correlated fatigability severity scores, which summarize the relationship between a person's change in self-reported tiredness or change in physical performance and concurrently measured PA. The fatigability severity scores are reproducible and correlated with clinical measures predictive of decline. The methods used to quantify fatigability severity can be implemented during a brief assessment (<15 minutes) and should be useful in the design and evaluation of interventions to increase PA in older adults at risk of functional decline.

Resident-directed long-term care: staff provision of choice during morning care.

PURPOSE: To develop an observational protocol to assess the quality of staff-resident communication relevant to choice and describe staff-resident interactions as preliminary evidence of the usefulness of the tool to assess current nursing home practices related to offering choice during morning care provision. DESIGN AND METHODS: This study included 73 long-stay residents in 2 facilities. Research staff conducted observations for 4 consecutive morning hours during targeted care activities (transfer out of bed, incontinence, dressing, and dining location). Observations were conducted weekly for 12 consecutive weeks. Staff-resident interactions were measured related to staff offers of choice and residents' responses. RESULTS: Interrater agreement was achieved for measures of staff offers of choice (kappa = .83, p < .001), type of choice provided (kappa = .75, p < .001), and resident requests related to choice (kappa = .72, p < .001). Observations over 2,766 care episodes during 4 aspects of morning care showed that staff offered residents choice during 18% of the episodes. Most observations (70%) were coded as staff offering "no choice." IMPLICATIONS: Nursing home staff can use a simplified version of this standardized observational tool to reliably measure staff-resident interactions related to choice during morning care provision as a first step toward improving resident-directed care practice.

Exemplary care as a mediator of the effects of caregiver subjective appraisal and emotional outcomes.

PURPOSE: Exemplary care (EC) is a new construct encompassing care behaviors that warrants further study within stress process models of dementia caregiving. Previous research has examined EC within the context of cognitively intact older adult care recipients (CRs) and their caregivers (CGs). This study sought to expand our knowledge of quality of care by investigating EC within a diverse sample of dementia CGs. DESIGN AND METHODS: We examined the relation between CG subjective appraisal (daily care bother, burden, and behavioral bother), EC, and CG emotional outcomes (depression and positive aspects of caregiving [PAC]). Specifically, EC was examined as a possible mediator of the effects of CG subjective appraisals on emotional outcomes. Using a bootstrapping method and an SPSS macro developed by Preacher and Hayes (2008 Asymptotic and resampling strategies for assessing and comparing indirect effects in multiple mediator models), we tested the indirect effect of EC on the relation between CG subjective appraisals and CG emotional outcomes. RESULTS: Overall, EC partially mediates the relation between the subjective appraisal variables (daily care bother, burden, and behavioral bother) and PAC. Results for depression were similar except that EC did not mediate the relation between burden and depression. This pattern of results varied by race/ethnicity. IMPLICATIONS: Overall, CGs' perception of providing EC to individuals with dementia partially explains the relation between subjective appraisal and symptoms of depression and PAC. Results of this study suggest that interventions may benefit from training CGs to engage in EC to improve their emotional outcomes and quality of care.