Perceived barriers and solutions identified by healthcare professionals in utilizing web-based reminiscence therapy to support dementia care during the pandemic.

This paper presents findings from a qualitative study conducted in Ontario, Canada, exploring healthcare professionals' perceptions of barriers and solutions for implementing Web-Based Reminiscence Therapy (WBRT) in an institutionalized settings for dementia care during the COVID-19 pandemic. The study identified five major barriers, including the lack of on-boarding/educational training, need for technology availability and technical support, limited attention span of persons with dementia (PWD), availability of multi-sensory features, and time constraints due to staff workload. Seven major themes emerged related to proposed solutions/suggestions: (1) involving younger generations, (2) focusing on technology training, (3) integrating with other digital platforms, (4) adding narratives/descriptions to recollect memories, (5) ensuring accessibility, (6) adding QR codes for retrieving information, and (7) combining digital/traditional reminiscence methods. These findings provide valuable insights for implementing WBRT to facilitate dementia care and for the future refinement of its application.

Healthcare professionals' perception of using a web-based reminiscence therapy to support person with dementia during the COVID-19 pandemic.

BACKGROUND: Reminiscence therapy (RT) is the most common non-pharmacological treatment for dementia care. The therapy stimulates the senses to evoke memories having the potential to reduce Behavioral and Psychological Symptoms of Dementia (BPSD). Digital RT, such as web-based reminiscence therapy (WBRT), has the potential to support dementia care and reduce the caregiving burden. AIMS: This study aimed to explore healthcare professionals (HCPs) perceptions of utilizing WBRT in institutionalized settings to support persons with dementia during the COVID-19 pandemic. METHODS: A qualitative phenomenological descriptive study was adopted and guided by Graham's Knowledge to Action framework. Online training on the use of WBRT was conducted, followed by interviews with HCPs. RESULTS: Four major themes were identified on the potential use of WBRT in dementia care, including usability and efficacy, impact on caregiving, capability of reducing BPSD, and. feasibility during COVID-19 social distancing. DISCUSSION: This study recognized the potential use of WBRT to support the person with dementia during the pandemic in institutionalized settings. CONCLUSION: The knowledge generated from this study will guide the future application of WBRT to support dementia care in diverse healthcare settings.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

BACKGROUND: Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinical utility of these tests in adults, who currently have limited access to this technology. METHODS: Patients from adult and cancer genetics clinics across Toronto, Ontario, Canada were recruited into a prospective cohort study evaluating the diagnostic utility of exome and genome sequencing in adults. Eligible patients were ≥18 years of age and suspected of having a hereditary disorder but had received previous uninformative genetic test results. In total, we examined the diagnostic utility of exome and genome sequencing in 47 probands and 34 of their relatives who consented to participate and underwent exome or genome sequencing. RESULTS: Overall, 17% (8/47) of probands had a pathogenic or likely pathogenic variant identified in a gene associated with their primary indication for testing. The diagnostic yield for patients with a cancer history was similar to the yield for patients with a non-cancer history (4/18 (22%) vs 4/29 (14%)). An additional 24 probands (51%) had an inconclusive result. Secondary findings were identified in 10 patients (21%); three had medically actionable results. CONCLUSIONS: This study lends evidence to the diagnostic utility of exome or genome sequencing in an undiagnosed adult population. The significant increase in diagnostic yield warrants the use of this technology. The identification and communication of secondary findings may provide added value when using this testing modality as a first-line test.

Creation of a Clinical Demonstration Unit: Embedding Academic Research into Point of Care in a Geriatric Unit.

Given that there are limited evidence-informed non-pharmacological interventions to treat behavioural and psychological symptoms of dementia, a specialized psychiatric hospital partnered with an academic university to create a clinical demonstration unit (CDU) - a learning health systems (LHS) model to advance dementia care. In this paper, we identify five key enablers that led to the successful creation of the CDU, its achievements and challenges encountered. The paper provides learnings for other healthcare providers who are considering initiating an LHS model within their setting to advance patient care.

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented.

Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation.

We describe the case of a 36-year-old man with bilateral axillary artery aneurysms and a threatened upper limb. We postulate that his aneurysms and diffuse vasculopathy resulted from a missense mutation identified in his ACTA2 gene known to be highly pathogenic. The risk factors and sequelae of axillary aneurysms are reviewed, with a focus on their surgical management and the effect of ACTA2 mutations on the cardiorespiratory system.

Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories.

Germline mutations in the BRCA2 tumour suppressor are associated with both an increased lifetime risk of developing prostate cancer (PCa) and increased risk of aggressive disease. To understand this aggression, here we profile the genomes and methylomes of localized PCa from 14 carriers of deleterious germline BRCA2 mutations (BRCA2-mutant PCa). We show that BRCA2-mutant PCa harbour increased genomic instability and a mutational profile that more closely resembles metastastic than localized disease. BRCA2-mutant PCa shows genomic and epigenomic dysregulation of the MED12L/MED12 axis, which is frequently dysregulated in metastatic castration-resistant prostate cancer (mCRPC). This dysregulation is enriched in BRCA2-mutant PCa harbouring intraductal carcinoma (IDC). Microdissection and sequencing of IDC and juxtaposed adjacent non-IDC invasive carcinoma in 10 patients demonstrates a common ancestor to both histopathologies. Overall we show that localized castration-sensitive BRCA2-mutant tumours are uniquely aggressive, due to de novo aberration in genes usually associated with metastatic disease, justifying aggressive initial treatment.

Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic.

INTRODUCTION: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men. METHODS: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012. RESULTS: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis. CONCLUSIONS: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

Examining risk perception among men with a family history of prostate cancer.

OBJECTIVE: This paper explores factors that influence the formulation of risk perception among men with a family history of prostate cancer who are currently attending a prostate cancer screening clinic. METHODS: Semi-structured interviews were conducted with fifteen participants. Interview transcripts were analyzed using interpretative phenomenological analysis. RESULTS: The following themes were identified: Risk Information Pathways, Experience with Other Prostate Disease, Exposure to Prostate Cancer Screening, Exposure to Affected Relatives, Lifestyle Factors, Illness Beliefs, and Health-Based Risk Comparisons. CONCLUSION: Understanding the contributors to risk perception and applying this knowledge during screening visits and genetic counselling may help to reduce risk distortion and result in increased adherence to screening programs and reduced psychological distress. PRACTICE IMPLICATIONS: Prostate cancer screening should incorporate counselling to address patient-specific risk concepts in order to increase the accuracy and maintain the stability of risk perceptions.

Male BRCA1 and BRCA2 mutation carriers: a pilot study investigating medical characteristics of patients participating in a prostate cancer prevention clinic.

BACKGROUND: Male BRCA1 and BRCA2 mutation carriers are at an increased risk to develop prostate cancer and are subject to screening protocols for high-risk men. The utility of targeted screening, and the clinical and pathological features associated with prostate cancer, have received little attention in this population. METHODS: We report on the clinical screening and pathological characteristics of a group of 19 men with BRCA1 or BRCA2 mutation, as compared to an age-matched group of men with a family history of prostate cancer. RESULTS: Mutation carriers were significantly more likely to have an elevated PSA at first visit (P = 0.03). Prostate cancer was twice as likely to be diagnosed in mutation carriers although this difference was not statistically significant (P = 0.55). CONCLUSIONS: Prostate cancer surveillance of BRCA1 and BRCA2 mutation carriers is warranted. Further research on larger cohorts is needed to evaluate whether unique pathological prostate cancer characteristics exist in these men.

Sexual dysfunction after radical prostatectomy: prevalence, treatments, restricted use of treatments and distress.

PURPOSE: Cancer of the prostate (CAP) is one of the most common malignancies affecting North American men with about 215,000 new cases and 35,800 CAP related deaths annually. The most prevalent intervention for localized CAP is radical prostatectomy (RP) with 10-year survival rates approaching 90%. Studies of men in post-RP recovery indicate that 44% to 75% experience sexual dysfunction and more than 60% experience distress in reaction to sexual dysfunction problems. These findings are increasingly significant as prostate specific antigen testing continues to increase CAP detection rates, resulting in more and younger post-RP patients confronting sexual dysfunction. MATERIALS AND METHODS: A MEDLINE database search was performed for articles published from 1966 to September 2004. RESULTS: Despite effectiveness 30% to 50% of patients who turn to sexually assistive aids after RP discontinue use within a year. This suggests that the achievement of physical responsiveness to an aid is necessary but it is not a sufficient factor in long-term sexual adaptation. Current research exploring this gap between effectiveness and ongoing use supports a broader perspective of sexual dysfunction emphasizing several factors, including perceptions of inadequacy, anxieties in regard to performance and depression in each member of the couple, overly enthusiastic expectations, partner physical/emotional readiness to resume active sex, the meaning to the couple of using a sexual aid and the quality of the nonsexual relationship of the couple. CONCLUSIONS: Our findings reveal the need to explore broader strategies for improving patient coping ability and adaptation. They also point to the need to explore the role of resumed satisfying sexuality in overall quality of life following treatment.