Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.

Tandem repeat DNA sequences constitute a significant proportion of the human genome. While previously considered to be functionally inert, these sequences are now broadly accepted as important contributors to genetic diversity. However, the polymorphic nature of these sequences can lead to expansion beyond a gene-specific threshold, causing disease. More than 50 pathogenic repeat expansions have been identified to date, many of which have been discovered in the last decade as a result of advances in sequencing technologies and associated bioinformatic tools. Commonly utilised diagnostic platforms including Sanger sequencing, capillary array electrophoresis, and Southern blot are generally low throughput and are often unable to accurately determine repeat size, composition, and epigenetic signature, which are important when characterising repeat expansions. The rapid advances in bioinformatic tools designed specifically to interrogate short-read sequencing and the development of long-read single molecule sequencing is enabling a new generation of high throughput testing for repeat expansion disorders. In this review, we discuss some of the challenges surrounding the identification and characterisation of disease-causing repeat expansions and the technological advances that are poised to translate the promise of genomic medicine to individuals and families affected by these disorders.

Evaluation of the Strengthening a Palliative Approach in Long Term Care (SPA-LTC) programme: a protocol of a cluster randomised control trial.

INTRODUCTION: Despite the high mortality rates in long-term care (LTC) homes, most do not have a formalised palliative programme. Hence, our research team has developed the Strengthening a Palliative Approach in Long Term Care (SPA-LTC) programme. The goal of the proposed study is to examine the implementation and effectiveness of the SPA-LTC programme. METHODS AND ANALYSIS: A cross-jurisdictional, effectiveness-implementation type II hybrid cluster randomised control trial design will be used to assess the SPA-LTC programme for 18 LTC homes (six homes within each of three provinces). Randomisation will occur at the level of the LTC home within each province, using a 1:1 ratio (three homes in the intervention and control groups). Baseline staff surveys will take place over a 3-month period at the beginning for both the intervention and control groups. The intervention group will then receive facilitated training and education for staff, and residents and their family members will participate in the SPA-LTC programme. Postintervention data collection will be conducted in a similar manner as in the baseline period for both groups. The overall target sample size will be 594 (297 per arm, 33 resident/family member participants per home, 18 homes). Data collection and analysis will involve organisational, staff, resident and family measures. The primary outcome will be a binary measure capturing any emergency department use in the last 6 months of life (resident); with secondary outcomes including location of death (resident), satisfaction and decisional conflict (family), knowledge and confidence implementing a palliative approach (staff), along with implementation outcomes (ie, feasibility, reach, fidelity and perceived sustainability of the SPA-LTC programme). The primary outcome will be analysed via multivariable logistic regression using generalised estimating equations. Intention-to-treat principles will be used in the analysis. ETHICS AND DISSEMINATION: The study has received ethical approval. Results will be disseminated at various presentations and feedback sessions; at provincial, national and international conferences, and in a series of manuscripts that will be submitted to peer-reviewed, open access journals. TRIAL REGISTRATION NUMBER: NCT039359.

Experiences of Families, Staff, Volunteers, and Administrators With Namaste Care for Persons With Advanced Dementia in Canadian Long-Term Care Homes.

OBJECTIVE: To explore the experiences of the Namaste Care intervention for persons with advanced dementia (ie, moderate and late-stage) in long-term care (LTC). DESIGN: A qualitative descriptive design was used. Staff Carers (eg, personal support worker, nurse, or activity aide) delivered Namaste Care with the support of volunteers in a small group. Activities provided during the Namaste Care sessions to enhance quality of life included massages, aromatherapy, music, and snacks/beverages. SETTING AND PARTICIPANTS: Family carers of residents with advanced dementia, LTC staff, administrators, and volunteers from 2 Canadian LTC homes, located in a midsize metropolitan area, were included. METHODS: Experiences and acceptability of Namaste Care was assessed through semistructured interviews ranging from 30 to 60 minutes following the 6-month study duration period with family carers, LTC staff, administrators, and volunteers. Thematic analysis was used for interview transcripts. RESULTS: A total of 16 family carers and 21 LTC staff, administrators, and volunteers participated in the study. Namaste Care was found to be acceptable and successful in enhancing the quality of life of residents due to collaborative efforts of all group of participants. Families, volunteers, and staff noted positive responses in residents, such as smiling and laughing. The program environment supported the development of relationships within the LTC community, which included families, residents, staff, and volunteers. CONCLUSIONS AND IMPLICATIONS: Namaste Care was perceived by the LTC community as an acceptable intervention for persons with advanced dementia. It was perceived as offering multiple benefits for residents with advanced dementia such as improved communication and mood.

Baccalaureate nursing students' knowledge, attitudes, educational needs, and use of medical and non-medical cannabis at five institutions in Manitoba, Canada: A cross-sectional analysis.

BACKGROUND: With the legalization of non-medical cannabis in Canada, cannabis is commonly used in the community and nurses and nursing students are likely to engage in clinical practice discussions around cannabis use for both medical and non-medical purposes. However, whether having previous experience using cannabis influences nursing students' knowledge and attitudes towards cannabis remains unclear. OBJECTIVE: The aim of this study was to describe nursing students' knowledge, attitudes, educational needs, and use of cannabis. DESIGN: Cross-sectional survey. SETTING: Five academic undergraduate nursing programs in Manitoba, Canada. PARTICIPANTS: Nursing students in Manitoba. METHODS: Students were asked about their use of cannabis, knowledge and attitudes regarding cannabis, clinical experiences and educational needs related to cannabis. Students' current knowledge was compared to their desired knowledge using paired t-tests. Using t-tests, attitudes towards cannabis were compared between students who had ever taken cannabis versus those with no experience. Descriptive statistics were utilized for all other questions. RESULTS: A total of 327 nursing students participated in the survey with 220 students (67.3 %) reporting they had used cannabis in the past, and 123 students (37.6 %) reporting monthly use of cannabis. Students who previously used cannabis held more positive attitudes towards both medical and non-medical cannabis use in comparison to those with no experience. Students recognised that their current knowledge around cannabis was insufficient and indicated the need for greater knowledge on both medical and non-medical cannabis-related topics. Only 37.7 % of students reported receiving any education on cannabis in their nursing program. Nearly all students (92.2 %) agreed if they had more education on medical cannabis use that they would feel more comfortable discussing this in their clinical practice. CONCLUSION: Education on both medical and non-medical cannabis is needed to support future nurses addressing cannabis use in their clinical practice. Nursing institutions must implement and evaluate curricula to ensure nursing students are adequately prepared to address cannabis use in their clinical practice and their own fitness to practice.

Metaviromic Characterization of Betaflexivirus Populations Associated with a Vitis cultivar Collection in South Africa.

South Africa is associated with a centuries-old viticultural industry, accompanied by a diverse range of wine and table grape cultivars and an extensive history of pervasive introductions of vine material and associated viruses. The Vitis D2 collection in Stellenbosch represents the most comprehensive collection of Vitis species, hybrids, and cultivars in South Africa. We collected leaf petiole material from 229 accessions from this collection. Our metaviromic analyses revealed a total of 406 complete/near complete genomes of various betaflexiviruses. Among these, we identified the presence of grapevine rupestris stem pitting-associated virus and grapevine viruses A, B, E, F, H (GVH), I (GVI), and M (GVM). Notably, this study marks the first report of GVH, GVI, and GVM in South Africa, which were confirmed via RT-PCR. This research significantly contributes to our understanding of viral diversity and introductions in South African viticulture and emphasizes the need for vigilant monitoring and management of viral infections. Our findings lay the groundwork for strategies that mitigate the impact of viruses on South Africa's wine industry, which generates an annual revenue of approximately 500 million USD.

Feasibility and Effects of Namaste Care for Persons with Advanced Dementia in Canadian Long-Term Care Homes.

OBJECTIVE: To evaluate the feasibility and effects of the Namaste Care intervention for persons with advanced dementia (ie, moderate and late-stage) in long-term care (LTC) and their family carers. DESIGN: A pre-posttest study design. Staff carers delivered Namaste Care for residents with the support of volunteers in a small group setting. Activities provided included aromatherapy, music, and snacks/beverages. SETTING AND PARTICIPANTS: Residents with advanced dementia and family carers from 2 Canadian LTC homes, located in a midsize metropolitan area, were included. METHODS: Feasibility was evaluated using a research activity log. Outcome data for residents (ie, quality of life, neuropsychiatric symptoms, pain) and family carers (ie, role stress, quality of family visits) were collected at baseline and 3 and 6 months of the intervention. Descriptive analyses and generalized estimating equations were used for quantitative data. RESULTS: A total of 53 residents with advanced dementia and 42 family carers participated in the study. Mixed findings were found for feasibility as not all intervention targets were met. There was a significant improvement in resident neuropsychiatric symptoms at the 3-month time point only (95% CI -9.39, -0.39; P = .033) and family carer role stress at both time points (3-month 95% CI -37.40, -1.80; P = .031; 6-month 95% CI -48.90, -2.09; P = .033). CONCLUSIONS AND IMPLICATIONS: Namaste Care is an intervention with preliminary evidence of impact. Feasibility findings revealed that not all targets were met as the intended number of sessions were not delivered. Future research should explore how many sessions per week are required to lead to an impact. It is important to assess outcomes for both residents and family carers, and to consider enhancing family engagement in delivering the intervention. Given the promise of this intervention, a large-scale randomized controlled trial with a longer follow-up should be conducted to further evaluate its outcomes.

Developing a question prompt list for family caregivers concerning the progression and palliative care needs of nursing home residents living with dementia.

Objective: Communication around a palliative approach to dementia care often is problematic or occurs infrequently in nursing homes (NH). Question prompt lists (QPLs), are evidence-based lists designed to improve communication by facilitating discussions within a specific population. This study aimed to develop a QPL concerning the progression and palliative care needs of residents living with dementia. Methods: A mixed-methods design in 2 phases. In phase 1, potential questions for inclusion in the QPL were identified using interviews with NH care providers, palliative care clinicians and family caregivers. An international group of experts reviewed the QPL. In phase 2, NH care providers and family caregivers reviewed the QPL assessing the clarity, sensitivity, importance, and relevance of each item. Results: From 127 initial questions, 30 questions were included in the first draft of the QPL. After review by experts, including family caregivers, the QPL was finalized with 38 questions covering eight content areas. Conclusion: Our study has developed a QPL for persons living with dementia in NHs and their caregivers to initiate conversations to clarify questions they may have regarding the progression of dementia, end of life care, and the NH environment. Further work is needed to evaluate its effectiveness and determine optimal use in clinical practice. Innovation: This unique QPL is anticipated to facilitate discussions around dementia care, including self-care for family caregivers.

Championing Dementia Education: Adapting an Effective Scottish Dementia Education Program for Canadian Acute Health Care Providers.

With increasing numbers of persons living with dementia and their higher rates of hospitalizations, it is necessary to ensure they receive appropriate and effective acute care; yet, acute care environments are often harmful for persons with dementia. There is a lack of dementia education for acute health care providers in Canada. Scotland presently delivers a dementia education program for health care providers, known as the Scottish National Dementia Champions Programme. The objective of this Policy and Practice Note is to present the collaborative work of Scottish experts and Canadian stakeholders to adapt the Dementia Champions Programme for use in Canada. This work to date includes: (a) an environmental scan of Canadian dementia education for acute health care providers; (b) key informant interviews; and, (c) findings from a two-day planning meeting. The results of this collaborative work can and are being used to inform the next steps to develop and pilot a Canadian dementia education program.

Waiting for home: The experience of delayed discharge for people with dementia.

INTRODUCTION: Individuals who remain in hospital once their health has stabilised experience delayed discharge. This often occurs for people with dementia when care needs exceed what can be managed at home. There is little research that takes into account the experience and needs of these patients. This Interpretive Description (ID) study, theoretically grounded in personhood and social citizenship perspectives, focused on the perspectives of people with dementia experiencing delayed discharge to address this gap in research and to better understand how nursing care can be improved for them. METHODS: Twenty-one individuals participated in this study: eight patient participants experiencing delayed discharge and living with dementia, six family members, and seven nurses. Data collection methods primarily included participant observations, totalling 100 h of observations. Fourteen semi-structured interviews were also conducted with family members and nurses and with one patient participant. Informal conversations were undertaken with patient participants who did not take part in interviews. RESULTS: Thematic analysis resulted in three main themes, encapsulating the patients' experiences: (1) Living and Waiting; (2) Distress and Behaviours; and (3) Looking Beyond the Designation. Findings are discussed in the context of the passive nature of delayed discharge care, the need for person-centred care, and prevailing discourses around the behavioural symptoms of dementia. CONCLUSION: Implications for nursing practice include the need to acknowledge and foster the abilities of people with dementia. The behaviour narrative and labelling prevalent in hospitals must also be challenged. Lastly, nurses need to recognise the significant transition that is the delayed discharge experience, especially for people with dementia. This study advocates for person-centred and inclusive nursing care, where ongoing needs are recognised and addressed, particularly for people with dementia experiencing delayed discharge, who are waiting for home.

Genomic and phylogenetic characterization of wheat yellows virus, a novel tenuivirus infecting wheat in South Africa.

During the 2019 winter wheat season, symptoms of severe chlorosis and stunting were observed on wheat in the irrigation production areas of South Africa. RNAtag-seq data were generated for seven samples from KwaZulu-Natal province and one from Limpopo. Analysis of assembled contigs indicated the presence of a putatively novel member of the genus Tenuivirus, tentatively named "wheat yellows virus" (WhYV). The genome is made up of four segments, which are 8952, 3451, 2338, and 2045 nucleotides in length and code for a total of seven ORFs. Phylogenies of each segment (nucleotide) and the polymerase gene (amino acid), as well as amino acid sequence comparisons of each gene product, showed that WhYV is most closely related to rice stripe virus.

Building a new life: a qualitative study of how family carers deal with significant changes.

BACKGROUND: Family carers of persons living with dementia who are residing in long term care (LTC), often experience significant changes in their roles and relationships which affects mental and physical health. Research has focused on describing the carers' experience, but not on how they deal with these changes or their perceptions of support needs. The purpose of this study was to explore how family carers of persons living with dementia residing in LTC deal with significant changes and to understand how best to support these carers. METHODS: Eight face-to-face audio-recorded focus group interviews were conducted with 45 participants from September 2019 to January 2020, as part of a larger study aimed at guiding the adaptation of an online toolkit to support family carers of persons living with dementia residing in LTC. Applied thematic analysis was used to analyze the focus group data. FINDINGS/RESULTS: Carers dealt with the significant changes they experienced through the process of "building a new life" consisting of two sub-processes: a) building new relationships (with their family member, LTC staff and others outside of LTC), and b) finding space for themselves (sharing of care and finding balance). Understanding dementia, support from others (staff, family and friends), connecting with resources, and being included in care decisions helped carers build a new life. CONCLUSION: The process of building a new life describes the ways that family carers deal with the life-altering changes they experienced when a family member is admitted to LTC. Carers may be supported in building their new life, by providing them with information about dementia and how to relate to staff and their family member living with dementia. The quality of care being provided and the LTC environment may also play an important role in how carers deal with the significant changes they experience.

Connecting Through Conversation: A Novel Video-Feedback Intervention to Enhance Long-Term Care Aides' Person-Centred Dementia Communication.

Objective: To pilot test a novel communication intervention incorporating a video-feedback component on the person-centred dementia communication skills of long-term care aides. Methods: Effectiveness was assessed using a single group pre-test/post-test design. 11 care aide-resident dyads participated in the study. Objective outcomes included provider statements demonstrating linguistic (i.e., reciprocity, clarity/coherence, and continuity categories) and relational elements of person-centred dementia communication, measured via video-recorded observations of usual care interactions. Subjective outcomes of care aide communication confidence/competence, satisfaction with the resident relationship, relationship closeness, and self-reflection at work were measured using self-report questionnaires. Results: In respect to observed person-centred dementia communication skills, there was an increase in the use of linguistic statements in the reciprocity and continuity categories, as well as total linguistic statements overall. Relational statements and overall person-centred dementia communication (i.e., linguistic plus relational strategies) increased. Care aide-reported communication confidence and competence, relationship closeness with the resident, and self-reflection at work also increased after the communication intervention. Discussion: The communication intervention showed promise as an effective approach to enhance person-centred dementia communication behaviours in care aides. These results support undertaking a larger trial to examine the intervention's effectiveness more fulsomely.

Expanding the conversation: A Person-centred Communication Enhancement Model.

The intricacy and impact of human communication has long captured the attention of philosophers, scholars and practitioners. Within the realm of care and service provision, efforts to maximize outcomes through optimal person-provider communication have drawn research and clinical focus to this area for several decades. With the dawning of the person-centred care movement within healthcare, and in particular long-term care home and dementia care settings, improvement in care providers' use of person-centred communication strategies and enhancement of relationships between residents, their families and care providers are desired outcomes. Thus, several person-centred care and communication theoretical perspectives have been employed to ground study in this field. However, a comprehensive theoretical position to underpin person-centred communication in dementia and older adult research does not exist to our knowledge. To offer expansion to the theoretical work in this emerging field, a Person-Centred Communication Enhancement Model for long-term care and dementia care is proposed, as well as rationale for its development. This discussion will also provide an overview and critique of the extant philosophies, theories, frameworks and models that have been utilized in the study of person-centred communication within the context of long-term care and dementia care.

Imperfect Solutions to the Neoliberal Problem of Public Aging: A Critical Discourse Analysis of Public Narratives of Long-Term Residential Care.

Public representations of long-term residential care (LTRC) facilities have received limited focus in Canada, although literature from other countries indicates that public perceptions of LTRC tend to be negative, particularly in contexts that prioritize aging and dying in place. Using Manitoba as the study context, we investigate a question of broad relevance to the Canadian perspective; specifically, what are current public perceptions of the role and function of long-term care in the context of a changing health care system? Through critical discourse analysis, we identify four overarching discourses dominating public perceptions of LTRC: the problem of public aging, LTRC as an imperfect solution to the problem, LTRC as ambiguous social spaces, and LTRC as a last resort option. Building on prior theoretical work, we suggest that public perceptions of LTRC are informed by neoliberal discourses that privilege individual responsibility and problematize public care.

Genomic characterization of grapevine viruses N and O: novel vitiviruses from South Africa.

A survey was performed on a Vitis cultivar collection in Stellenbosch, South Africa. Metaviromes were generated for each cultivar, using an RNAtag-seq workflow. Analysis of assembled contigs indicated the presence of two putatively novel members of the genus Vitivirus, provisionally named "grapevine virus N" (GVN) and "grapevine virus O" (GVO). Comparisons of amino acid sequences showed that GVN and GVO are most closely related to grapevine virus G and grapevine virus E, respectively. The incidence of these novel viruses within the sampling site was low, with GVO and GVN associated with only five and two cultivars, respectively, of the 229 sampled.

A Social Capital Perspective on Social-Medical Collaboration in Community End-of-Life Care in Hong Kong.

Recent developments in Hong Kong end-of-life (EOL) care have shifted some caring work for dying people and their families to cross-disciplinary collaboration in community settings. Social-medical collaboration becomes especially important. This study aims to use social capital as an analytical lens to examine the processes and mechanisms of social-medical collaboration in EOL care and elucidate practice implications for engaging in the care of dying people and their families. Qualitative data were collected using in-depth interviews. Three major conceptual categories were generated through grounded theory methodology. They are (a) establishing trust through keeping clear and simple boundaries, (b) cultivating mutuality in the multi-disciplinary meeting, and (c) fostering social-medical collaboration in EOL care. Each new stage is based on the social capital accumulated in the previous one through the social interactions between professionals. Such theorization also provides insights into how to achieve effective social-medical collaboration in this context.

Dignity of the patient--family unit: further understanding in hospice palliative care.

OBJECTIVES: This study aimed to explore the construct of dignity of the patient-family dyad in hospice palliative care, as well as its influencing factors from the perspective of hospice palliative care staff. METHODS: A qualitative descriptive study was conducted with 34 staff members from a residential hospice in Amherst, USA, and an inpatient palliative care unit in Winnipeg, Canada, between September 2013 and December 2016. Data were collected through semistructured interviews and were analysed using the thematic analysis approach. RESULTS: Findings suggested that staff members viewed dignity as something that is reciprocally supported within the patient-family unit. Themes including respect, comfort, privacy, being informed and quality family time were common in the conceptualisation of dignity in patients and families; themes of being human and being self, autonomy and living with dignity were uniquely used to conceptualise patient dignity. Themes solely constituting family dignity included being included in care, being capable and being treated fairly. Cultural considerations, environmental factors, teamwork and patient/family-staff relationship were the factors identified by staff members that affected dignity in hospice palliative care. CONCLUSION: Findings of this study provide insights into the development of strategies to support the dignity of the patient-family unit in hospice palliative care.

Developing country-specific questions about end-of-life care for nursing home residents with advanced dementia using the nominal group technique with family caregivers.

OBJECTIVE: We aimed to develop question prompt lists (QPLs) for family caregivers of nursing home residents with advanced dementia in the context of a study involving Canada, the Czech Republic, Italy, the Netherlands, the United Kingdom and Ireland, and to explore cross-national differences. QPLs can encourage family caregivers to ask questions about their relative's end-of-life care. METHODS: We used nominal group methods to create country-specific QPLs. Family caregivers read an information booklet about end-of-life care for people with dementia, and generated questions to ask healthcare professionals. They also selected questions from a shortlist. We analyzed and compared the QPLs using content analysis. RESULTS: Four to 20 family caregivers per country were involved. QPLs ranged from 15 to 24 questions. A quarter (24%) of the questions appeared in more than one country's QPL. One question was included in all QPLs: "Can you tell me more about palliative care in dementia?". CONCLUSION: Family caregivers have many questions about dementia palliative care, but the local context may influence which questions specifically. Local end-user input is thus important to customize QPLs. PRACTICE IMPLICATIONS: Prompts for family caregivers should attend to the unique information preferences among different countries. Further research is needed to evaluate the QPLs' use.

Evaluating the Implementation of the Conversation Starter Kit in Long Term Care.

INTRODUCTION: Advance care planning can improve the quality of life for residents in long-term care homes and reduce stress for families. However, care home staff and families often lack knowledge about advance care planning, making it especially difficult for residents with dementia to communicate their care plan wishes. A Conversation Starter Kit may increase advance care planning awareness among staff and families. OBJECTIVES: This study evaluated an advance care planning intervention, the Conversation Starter Kit booklet, for use in long term care homes. METHODS: Data were collected at three long-term care homes in southern Ontario. We collected data from 55 residents who were able to make decisions on their own paired with 11 family members of these residents. We also collected data from 24 family members of residents who were unable to make decisions on their own. This study used a quasi-experimental, one group pre/post design. Quantitative surveys were administered before and after a three-month advance care planning intervention. An additional structured interview was completed at the end of the intervention period, which included both closed and open-ended questions to assess perceptions about the booklet's use or non-use. RESULTS: Residents reported more engagement in advance care planning after completing the Conversation Starter Kit booklet, particularly related to asking questions to health care providers about health care decisions. Family members reported feeling very certain that they would be able to make decisions on behalf of the resident but felt less certain after completing the booklet, implying the booklet raised their awareness of the types of decisions they might need to make, hopefully prompting them to be more prepared for decisions in the future. CONCLUSIONS: An advance care planning intervention - The Conversation Starter Kit booklet - appears acceptable and easy to use for residents and family members/friends in long-term care and can improve resident engagement in advance care planning. Although using the booklet may decrease efficacy for decision making among family members of long-term care residents, it may highlight the importance of more actionable engagement in advance care planning among residents, their families/friends, and staff.

Genomic characterization of two novel viruses infecting Barleria cristata L. from the genera Orthotospovirus and Polerovirus.

Barleria cristata L. has become naturalized in South Africa, where it is commonly used as an ornamental. In 2019, plants of B. cristata showing putative viral symptoms were collected from two locations in Gauteng, South Africa. RNAtag-seq libraries were prepared and sequenced using an Illumina HiSeq 2500 platform. De novo assembly of the resulting data revealed the presence of a novel member of the family Tospoviridae associated with the plants from both locations, and this virus was given the tentative name "barleria chlorosis-associated virus". Segments L, M, and S have lengths of 8752, 4760, and 2906 nt, respectively. Additionally, one of the samples was associated with a novel polerovirus, provisionally named "barleria polerovirus 1", with a complete genome length of 6096 nt. This is the first study to show the association of viruses with a member of the genus Barleria.