Understanding the Value of a Proactive Telecare System in Supporting Older Adults' Independence at Home: Qualitative Interview Study Among Key Interest Groups.

BACKGROUND: Telecare is claimed to support people to live in their own homes for longer by providing monitoring services that enable responses to emergencies at home. Although most telecare technologies commissioned in the United Kingdom predominantly supply reactive services, there has been recent interest among policy makers to develop proactive telecare services to provide additional understanding of older adults' health and well-being needs to provide a means for more preventive interventions. Proactive telecare refers to providing regular well-being calls or encouraging users to regularly confirm their well-being to anticipate and prevent crises through an increased understanding of individuals' needs and by building social relationships with older adults. Such technologies have already begun to be introduced, yet little research has explored the potential value of proactive telecare. OBJECTIVE: This study explores the perceptions of different interest groups to understand the extent to which using a proactive telecare service can support older adults to live independently, what potential health and well-being benefits may be elicited from its use, and what the limitations are. METHODS: Semistructured interviews were conducted with older people (those with experience in using proactive telecare and those without), family members of proactive telecare users, and proactive telecare staff regarding their perceptions and opinions about the value of a proactive telecare service. Data were analyzed using inductive thematic analysis. RESULTS: A total of 30 individuals participated in this study. Older adults described the value of proactive telecare in feeling safe and in control and appreciated feeling connected. Family members and staff valued the potential to detect early health deterioration in older adults, and all participants highlighted the benefit of strengthening access to social networks, particularly for socially isolated older people. However, telecare is often viewed as a last resort, and therefore, anticipatory care may not suit all populations, as demonstrated by the mixed acceptance of the technology among older adults who did not have experience using it. Participants also reported limitations, including the requirement for family, friends, or neighbors to assist older adults during an emergency and the need for financial resources to fund the service. CONCLUSIONS: This study presents the first known qualitative inquiry about a proactive telecare system, which provides rich and detailed insights from different perspectives into the potential benefits of this intervention. Proactive telecare may promote and facilitate the accumulation of social and technological resources as individuals prepare to cope with age-related challenges, thus helping to avoid negative outcomes prematurely. However, similar to reactive telecare, proactive telecare must be matched to individual preferences and existing financial and social resources.

Physical health comorbidities in older adults with bipolar disorder: A systematic review.

OBJECTIVE: To ascertain the prevalence and predictors of physical health comorbidities in older adults with bipolar disorder. METHODS: The authors conducted a systematic review and narrative synthesis of peer-reviewed journal articles reporting on physical health comorbidities in older adults (aged ≥50) with a diagnosis of bipolar disorder. The Mixed Methods Appraisal Tool (MMAT) assessed study quality. RESULTS: 23 papers reporting on 19 studies met the inclusion criteria. The literature on diabetes, obesity and renal disease was inconclusive. There was some tentative evidence to higher rates of cardiovascular disease and some forms of cancer in older adults with bipolar disorder in comparison to the general population, but this requires further investigation. We identified no studies looking at oral health. LIMITATIONS: The quality ratings of the identified research were generally low. Very few studies included a comparison sample from the general population or controlled for key covariates in their analysis. CONCLUSION: Existing literature provides tentative evidence that some physical health comorbidities are elevated in older adults with bipolar disorder. Clinicians should consider interventions that improve the physical health of this group, alongside the chronic mental health difficulties they experience.

Developing and validating the Community-Oriented Frailty Index (COM-FI).

INTRODUCTION: Methods for measuring frailty over-emphasise physical health, and consensus for a more holistic approach is increasing. However, holistic tools have had mixed success in meeting the validation criteria required of a frailty index. We report on the further development and validation of a Frailty Tool designed for use in the community with a greater emphasis on psychological markers, Holland et al's Community-Oriented Frailty Index (COM-FI). METHOD: A total of 351 participants aged 58-96 were recruited from Retirement Villages and local communities across the West Midlands of the UK. Participants completed a series of measures designed to assess frailty and outcomes associated with frailty over a 2-year period. RESULTS: All three candidate items ('polypharmacy', 'exercise frequency', and the Coronary Heart Disease and Diabetes 'joint effect') were incorporated into the tool, and one variable, 'falls' was removed from the index. The revised COM-FI was shown to be valid and met Rockwood's validation criteria (Rockwood et al., 2006), with the exception that in this specific sample there was no significant gender difference and the index did not predict mortality. DISCUSSION: Overall, the COM-FI is a valid and reliable tool, although the capacity for the COM-FI to predict mortality over a 2-year period remains inconclusive given the small numbers of people at the higher ends of the frailty range. Prediction of need for social care was good, showing the utility of this community based tool.

Frailty as the Future Core Business of Public Health: Report of the Activities of the A3 Action Group of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA).

Background: The prevalence of frailty at population-level is expected to increase in Europe, changing the focus of Public Health. Here, we report on the activities of the A3 Action Group, focusing on managing frailty and supporting healthy ageing at community level. Methods: A three-phased search strategy was used to select papers published between January 2016 and May 2018. In the third phase, the first manuscript draft was sent to all A3-Action Group members who were invited to suggest additional contributions to be included in the narrative review process. Results: A total of 56 papers were included in this report. The A3 Action Group developed three multidimensional tools predicting short⁻medium term adverse outcomes. Multiple factors were highlighted by the group as useful for healthcare planning: malnutrition, polypharmacy, impairment of physical function and social isolation were targeted to mitigate frailty and its consequences. Studies focused on the management of frailty highlighted that tailored interventions can improve physical performance and reduce adverse outcomes. Conclusions: This review shows the importance of taking a multifaceted approach when addressing frailty at community level. From a Public Health perspective, it is vital to identify factors that contribute to successful health and social care interventions and to the health systems sustainability.

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55-200 CGG repeats) are at risk to have an affected child. Currently, specific population-based carrier screening for FXS is not recommended. Previous studies exploring female premutation carrier frequency have been limited by size or ethnicity. This retrospective study provides a pan-ethnic estimate of the Fragile X premutation carrier frequency in a large, ethnically diverse population of women referred for routine carrier screening during a specified time period at Progenity, Inc. Patient ethnicity was self-reported and categorized as: African American, Ashkenazi Jewish, Asian, Caucasian, Hispanic, Native American, Other/Mixed/Unknown, or Sephardic Jewish. FXS test results were stratified by ethnicity and repeat allele category. Total premutation carrier frequency was calculated and compared against each ethnic group. A total of 134,933 samples were included. The pan-ethnic premutation carrier frequency was 1 in 201. Only the Asian group differed significantly from this frequency. Using the carrier frequency of 1 in 201, a conservative pan-ethnic risk estimate for a male fetus to have FXS can be calculated as 1 in 2,412. This risk is similar to the highest ethnic-based fetal risks for cystic fibrosis and spinal muscular atrophy, for which population-wide screening is currently recommended. This study adds to the literature and supports further evaluation into specific population-wide screening recommendations for FXS.

Clinical experience with multigene carrier panels in the reproductive setting.

OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. RESULTS: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. CONCLUSIONS: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.

Sex Hormones and Healthy Psychological Aging in Women.

Besides their key role in reproduction, estrogens have effects in several organs in the body, as confirmed by the identification of estrogen receptors (ER) in multiple tissues. Experimental evidence has shown that estrogens have significant impacts on the central nervous system (CNS), and a key question is to what extent the fall in estrogen levels in the blood that occurs with increasing age, particularly around and following the menopause, has an impact on the cognitive function and psychological health of women, specifically regarding mood. This review will consider direct effects of menopausal changes in estrogens on the brain, including cognitive function and mood. Secondary pathways whereby health factors affected by changes in estrogens may interact with CNS functions, such as cardiovascular factors, will be reviewed as well insofar as they also have an impact on cognitive function. Finally, because decline in estrogens may induce changes in the CNS, there is interest in clarifying whether hormone therapy may offer a beneficial balance and the impact of hormone therapy on cognition will also be considered.

Be SMART: examining the experience of implementing the NHS Health Check in UK primary care.

BACKGROUND: The NHS Health Check was designed by UK Department of Health to address increased prevalence of cardiovascular disease by identifying risk levels and facilitating behaviour change. It constituted biomedical testing, personalised advice and lifestyle support. The objective of the study was to explore Health Care Professionals' (HCPs) and patients' experiences of delivering and receiving the NHS Health Check in an inner-city region of England. METHODS: Patients and HCPs in primary care were interviewed using semi-structured schedules. Data were analysed using Thematic Analysis. RESULTS: Four themes were identified. Firstly, Health Check as a test of 'roadworthiness' for people. The roadworthiness metaphor resonated with some patients but it signified a passive stance toward illness. Some patients described the check as useful in the theme, Health check as revelatory. HCPs found visual aids demonstrating levels of salt/fat/sugar in everyday foods and a 'traffic light' tape measure helpful in communicating such 'revelations' with patients. Being SMART and following the protocolrevealed that few HCPs used SMART goals and few patients spoke of them. HCPs require training to understand their rationale compared with traditional advice-giving. The need for further follow-up revealed disparity in follow-ups and patients were not systematically monitored over time. CONCLUSIONS: HCPs' training needs to include the use and evidence of the effectiveness of SMART goals in changing health behaviours. The significance of fidelity to protocol needs to be communicated to HCPs and commissioners to ensure consistency. Monitoring and measurement of follow-up, e.g., tracking of referrals, need to be resourced to provide evidence of the success of the NHS Health Check in terms of healthier lifestyles and reduced CVD risk.

Evaluation of a BeadXpress assay for a 151-mutation and variant CFTR screening panel after 11,000 samples: implications for practice.

We created a 151-mutation and variant screening panel for cystic fibrosis transmembrane regulator (CFTR) using the Illumina Inc. BeadXpress platform (San Diego, CA). The laboratory developed test was validated using a third-party blinding of a set of 450 samples split with an authority laboratory that provides a large panel CFTR screening and 50 diverse controls admixed randomly. The validation proved the test to be 100% sensitive for the mutations tested and >99% specific. A total of 391 mutations in 11,186 samples tested were confirmed by repeat analysis and sequencing, resulting in an overall confirmed positive rate of 3.5%. Of the mutations detected, 348 were part of the American College of Obstetrics and Gynecology (ACOG) panel (89%) and 43 were non-ACOG (11%). A total of 16 of the 23 ACOG panel mutations were discovered in this cohort, along with 21 different non-ACOG mutation genotypes. We confirmed 6 total patients carrying mutations that would not have been identified by any other commercial panel. The role of a large genotyping panel in carrier screening is discussed relative to the ACOG panel and also in relation to comparative efficacy with targeted massive parallel sequencing.

Molecular pathology: future issues.

CONTEXT: The field of molecular pathology is expanding in complexity. To achieve competency, vigilance is required. OBJECTIVE: To review the advances in clinically useful molecular biologic techniques and to identify their applications in clinical practice, as presented at the 13th Annual William Beaumont Hospital DNA Symposium. DATA SOURCES: The 4 manuscripts submitted were reviewed and their major findings were compared with the literature on the same or related topics. STUDY SELECTION: Manuscripts address the use of molecular or immunophenotyping by flow cytometry to evaluate the origin or presence of sepsis, respectively; the use of imatinib mesylate to treat chronic myeloid leukemia and the nature of resistance to imatinib; and the use of 9 and 10 fluorochromes during clinical flow cytometric studies. DATA SYNTHESIS: The epidemiologic evaluation of a septic outbreak may be monitored using molecular techniques that track the relatedness of isolates. A potential biomarker for the presence of early sepsis is CD64. Intracellular signal transduction pathways are altered in malignancy. Imatinib mesylate inhibits the BCR-ABL kinase created by translocation of the long arms of chromosomes 9 and 22 in chronic myeloid leukemia. Resistance to imatinib may be secondary to mutation in the BCR-ABL kinase domain or residual leukemic stem cells that imatinib does not kill. The use of 9 or 10 fluorochromes simultaneously during flow cytometry has many clinical advantages; however, software for data analysis is needed. CONCLUSION: The current postgenomic era will continue to emphasize the use of microarrays and database software for genomic, transcriptomic, proteomic, nutrigenomic, and pharmacogenomics screening to search for a useful clinical assay. The number of molecular pathologic techniques will expand as additional disease-associated mutations are defined.