Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.

PURPOSE: Exome (ES) and genome sequencing (GS) are increasingly being utilized for individuals with rare and undiagnosed diseases; however, guidelines on their use remain limited. This study aimed to identify factors associated with diagnosis by ES and/or GS in a heterogeneous population of patients with rare and undiagnosed diseases. METHODS: In this case control study, we reviewed data from 400 diagnosed and 400 undiagnosed randomly selected participants in the Undiagnosed Diseases Network, all of whom had undergone ES and/or GS. We analyzed factors associated with receiving a diagnosis by ES and/or GS. RESULTS: Factors associated with a decreased odds of being diagnosed included adult symptom onset, singleton sequencing, and having undergone ES and/or GS before acceptance to the Undiagnosed Diseases Network (48%, 51%, and 32% lower odds, respectively). Factors that increased the odds of being diagnosed by ES and/or GS included having primarily neurological symptoms and having undergone prior chromosomal microarray testing (44% and 59% higher odds, respectively). CONCLUSION: We identified several factors that were associated with receiving a diagnosis by ES and/or GS. This will ideally inform the utilization of ES and/or GS and help manage expectations of individuals and families undergoing these tests.

Associations between perinatal risk and physical health in pre-adolescence in the Adolescent Brain Cognitive Development (ABCD) Study®: the unexpected relationship with sleep disruption.

BACKGROUND: To investigate relationships among different physical health problems in a large, sociodemographically diverse sample of 9-to-10-year-old children and determine the extent to which perinatal health factors are associated with childhood physical health problems. METHODS: A cross-sectional study was conducted utilizing the Adolescent Brain Cognitive Development℠ (ABCD) Study (n = 7613, ages 9-to-10-years-old) to determine the associations among multiple physical health factors (e.g., prenatal complications, current physical health problems). Logistic regression models controlling for age, sex, pubertal development, household income, caregiver education, race, and ethnicity evaluated relationships between perinatal factors and childhood physical health problems. RESULTS: There were significant associations between perinatal and current physical health measures. Specifically, those who had experienced perinatal complications were more likely to have medical problems by 9-to-10 years old. Importantly, sleep disturbance co-occurred with several physical health problems across domains and developmental periods. CONCLUSION: Several perinatal health factors were associated with childhood health outcomes, highlighting the importance of understanding and potentially improving physical health in youth. Understanding the clustering of physical health problems in youth is essential to better identify which physical health problems may share underlying mechanisms. IMPACT: Using a multivariable approach, we investigated the associations between various perinatal and current health problems amongst youth. Our study highlights current health problems, such as sleep problems at 9-to-10 years old, that are associated with a cluster of factors occurring across development (e.g., low birth weight, prenatal substance exposure, pregnancy complications, current weight status, lifetime head injury). Perinatal health problems are at large, non-modifiable (in this retrospective context), however, by identifying which are associated with current health problems, we can identify potential targets for intervention and prevention efforts.

Wound Bed Preparation 2024: Delphi Consensus on Foot Ulcer Management in Resource-Limited Settings.

GENERAL PURPOSE: To review a practical and scientifically sound application of the wound bed preparation model for communities without ideal resources. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and registered nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After participating in this educational activity, the participant will:1. Summarize issues related to wound assessment.2. Identify a class of drugs for the treatment of type II diabetes mellitus that has been shown to improve glycemia, nephroprotection, and cardiovascular outcomes.3. Synthesize strategies for wound management, including treatment in resource-limited settings.4. Specify the target time for edge advancement in chronic, healable wounds.

Chronic wound management in low-resource settings deserves special attention. Rural or underresourced settings (ie, those with limited basic needs/healthcare supplies and inconsistent availability of interprofessional team members) may not have the capacity to apply or duplicate best practices from urban or abundantly-resourced settings. The authors linked world expertise to develop a practical and scientifically sound application of the wound bed preparation model for communities without ideal resources. A group of 41 wound experts from 15 countries reached a consensus on wound bed preparation in resource-limited settings. Each statement of 10 key concepts (32 substatements) reached more than 88% consensus. The consensus statements and rationales can guide clinical practice and research for practitioners in low-resource settings. These concepts should prompt ongoing innovation to improve patient outcomes and healthcare system efficiency for all persons with foot ulcers, especially persons with diabetes.

Enhancing Specialized Nursing Practice Through Collaborative Academic Advancement: A Joint Initiative by Nurses Specialized in Wound, Ostomy, and Continence Canada and Curtin University, Perth, Australia.

In response to the escalating demand for highly skilled nursing practitioners in wound, ostomy, and continence (WOC) care, a collaboration between the Nurses Specialized in Wound, Ostomy, and Continence Canada (NSWOCC) and Curtin University, Perth, Australia, has emerged. This unique pathway aims to bridge the gap between practical expertise and academic excellence, offering a transformative opportunity for nursing professionals to elevate their skills and credentials. This comprehensive program integrates real-world experience with advanced academic concepts, enabling participants can to pursue a Master of Advanced Practice (MC-ADVPRC) in Wound, Ostomy, and Continence Nursing, positioning themselves as leaders in specialized health care. NSWOCC Feature highlights the programs' unique features and potential impact on the future of nursing practice.

Management of Pain in People Living With Chronic Limb Threatening Ischemia: Highlights From a Rapid Umbrella Review.

Peripheral artery disease is a complex health condition. It is associated with atherosclerotic occlusive lesions in the arteries limiting normal blood flow, mostly involving the lower extremities, leading to chronic limb-threatening ischemia (CLTI). Chronic unrelenting ischemic leg pain can be debilitating and distressing, contributing to poor health-related quality of life. Comprehensive management of pain associated with CLTI requires multimodal approaches that draw on a range of strategies and specialist treatments delivered by an interdisciplinary team across various health care settings. We recognized a significant gap in evidence-based strategies that are accessible, appropriate, acceptable, effective, and safe for the elderly with CLTI-associated pain. We therefore conducted an umbrella review or overview of multiple existing reviews that employ a rigorous and transparent method to comprehensively identify and synthesize relevant literature including systematic, scoping, and narrative reviews. The purpose of this umbrella review was to aggregate and compare various management options to inform best practices and quality indicators for the management of ischemic pain in older patients with peripheral artery disease.

The role community-based healthcare providers play in managing hard-to-heal wounds.

It is common for community-based healthcare providers (CHPs)-many of whom have not received specialised training in wound care-to deliver initial and ongoing management for various wound types and diverse populations. Wounds in any setting can rapidly transition to a stalled, hard-to-heal wound (HTHW) that is not following a normal healing trajectory. Failure to recognise or address issues that cause delayed healing can lead to increased costs, healthcare utilisation and suffering. To encourage early intervention by CHPs, a panel of wound care experts developed actionable evidence-based recommendations for CHPs delineating characteristics and appropriate care in identifying and treating HTHWs. A HTHW is a wound that fails to progress towards healing with standard therapy in an orderly and timely manner and should be referred to a qualified wound care provider (QWCP) for advanced assessment and diagnosis if not healed or reduced in size by 40%-50% within 4 weeks. HTHWs occur in patients with multiple comorbidities, and display increases in exudate, infection, devitalised tissue, maceration or pain, or no change in wound size. CHPs can play an important initial role by seeing the individual's HTHW risk, addressing local infection and providing an optimal wound environment. An easy-to-follow one-page table was developed for the CHP to systematically identify, evaluate and treat HTHWs, incorporating a basic toolkit with items easily obtainable in common office/clinic practice settings. A flow chart using visual HTHW clinical cues is also presented to address CHPs with different learning styles. These tools encourage delivery of appropriate early interventions that can improve overall healthcare efficiency and cost.

The Influence of Absorbent Products on Skin Integrity: A Scoping Review.

PURPOSE: Absorbent products are commonly used to absorb urine and fecal matter and to mitigate potential skin complications such as incontinence-associated dermatitis (IAD). Evidence concerning the effect these products have on skin integrity is limited. This scoping review aimed to explore the evidence/literature on the effect of absorbent containment products on skin integrity. METHOD: A scoping literature review. SEARCH STRATEGY: The electronic databases CINAHL, Embase, MEDLINE, and Scopus were searched for published articles between 2014 and 2019. Inclusion criteria were studies that focused on urinary and/or fecal incontinence, use of incontinent absorbent containment products, impact on skin integrity, and published in English. The search identified a total of 441 articles that were identified for the title and abstract review. FINDINGS: Twelve studies met inclusion criteria and were included in the review. Variability in the study designs did not allow firm conclusions regarding which absorbent products contributed to or prevented IAD. Specifically, we found variations in assessment of IAD, study settings, and types of products used. IMPLICATIONS: There is insufficient evidence to support the effectiveness of one product category over another for maintaining skin integrity in persons with urinary or fecal incontinence. This paucity of evidence illustrates the need for standardized terminology, a widely used instrument for assessment of IAD, and identification of a standard absorbent product. Additional research using both in vitro and in vivo models, along with real-world clinical studies, is needed to enhance current knowledge and evidence of the impact of absorbent products on skin integrity.

A Cost-Effectiveness Model to Determine Ostomy-Related Costs of Care and Health Outcomes Among People With an Ostomy in Canada Using a Ceramide-Infused Skin Barrier.

PURPOSE: The aim of this study was to determine whether a difference exists in the financial impact of the use of a 2-piece ceramide-infused skin barrier (CIB) versus standard of care barrier (SOC) in Ontario and Alberta using a cost-effectiveness model over a 1-year period for people with a fecal or urinary ostomy. DESIGN: A cost-effectiveness model adapted from a previously published work. SUBJECTS AND SETTING: The model was populated with data inputs from a hypothetical cohort of 1000 individuals in Ontario and 4000 in Alberta. Model results were assessed for robustness via the use of deterministic and probabilistic sensitivity analyses. The provinces of Ontario and Alberta were chosen because cost data were readily accessible. The combined population of these provinces accounts for 50% of Canada's population. RESULTS: An expected cost savings of Can$443.13 (US $322.60) and Can$243.84 (US $177.52) per user for the hypothetical cohort of 1000 individuals in Ontario and 4000 in Alberta per year was obtained for those using a CIB versus a non-infused skin barrier in Ontario and Alberta, respectively. The incremental cost effectiveness ratio (ICER) of CIB to SOC per peristomal skin complication (PSC) avoided and per quality-adjusted life day (QALD) gained was approximately Can$2702 (US $1967)/PSC and Can$1266 (US $922)/QALD for Ontario and approximately Can$1487 (US $1083)/PSC and Can$697 (US $507)/QALD for Alberta. Analysis indicated CIBs remained cost-effective across all sensitivity analyses performed. CONCLUSIONS: Finding suggest that a CIB is cost-effective when compared to a barrier not infused with ceramide when applied to persons with an ostomy and residing in the provinces of Alberta and Ontario.

Electronic Consultation by Advanced Practice Nurses to Improve Access to Specialist Care for Older Adults.

Older adults face several challenges when accessing specialist care. Advanced practice nurses (APNs) can perform an important role in primary care for older adults, particularly when bolstered with digital tools. In the current study, we conducted a multiple case study of electronic consultations (eConsults) involving APNs to assess how these practitioners use the service to improve access to care. All eConsults submitted by or to an APN in 2019 on behalf of patients aged ≥65 years were reviewed to identify examples from six settings representative of the range of advanced nursing practices. For each setting, a final case was chosen using an iterative process and stratified by specialty and type of advice. Included cases were assessed using a conceptual framework for health care access. Selected cases illustrate how APNs can be effective users of eConsults in a diversity of health care settings. The framework allowed for an in-depth study of access over the range of interactions that take place among patients, caregivers, providers, and the health care system. [Journal of Gerontological Nursing, 48(4), 33-40.].

A pragmatic randomised controlled clinical study to evaluate the use of silicone dressings for the treatment of skin tears.

One of the most common types of skin breakdown in ageing populations is skin tears. The International Skin Tear Advisory Panel advocates for special attention to be paid to dressing selection related to skin tear management. The panel recommends choosing dressings that will promote the maintenance of moisture balance, suit the local wound environment, protect peri-wound skin, control or manage exudate and infection, and optimise caregiver time. It is paramount that dressings protect the fragile nature of the skin associated with those who at heightened risk for skin tear development. To compare the effectiveness of soft silicone dressings (a contact layer and/or foam) for the healing of skin tears with local practices that do not include soft silicone dressings. The study was a pragmatic randomised controlled prospective study. One hundred and twenty-six individuals from two long-term care facilities in Ontario Canada who presented with skin tears were randomised into the treatment group using either soft silicone dressings (a contact layer and/or foam) or the control group using non-adhesive dressings. The current study demonstrated that 96.9% (n = 63) of skin tears in the treatment group healed over a 3-week period compared with 34.4% (n = 21) in the control group. The proportion of wound healing experienced at week 2 was 89.2% (n = 58) in the treatment group compared with 27.9% (n = 17) in the control group. There was a significantly greater reduction in wound surface area relative to baseline in the treatment group (2.9 cm2 ) compared with the control group (0.6 cm2 ) (χ2  = 21.792 P < .0001) at week 1. Survival analysis data supported that skin tears healed 50% faster in the treatment group (11 days) compared with the control group (22 days) (χ2  = 59.677 P < .0001). The expected healing trajectory of acute wounds, including skin tears, if proper wound bed preparation is realised and infection is controlled, is 7 to 21 days. Results of this study suggest the use of silicone dressings support wound healing and aid in wound closure within the expected healing trajectory, with faster complete wound closure and mean healing times compared with non-silicone dressing for the treatment of STs.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

PURPOSE: Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this task are continually evolving and improving, we nevertheless sought to investigate commonalities across sequencing processing workflows to reveal consensus and standard practice tools and highlight exploratory analyses where technical and theoretical method improvements would be most impactful. METHODS: We collected details regarding the computational approaches used by a genetic testing laboratory and 11 clinical research sites in the United States participating in the Undiagnosed Diseases Network via meetings with bioinformaticians, online survey forms, and analyses of internal protocols. RESULTS: We found that tools for processing genomic sequencing data can be grouped into four distinct categories. Whereas well-established practices exist for initial variant calling and quality control steps, there is substantial divergence across sites in later stages for variant prioritization and multimodal data integration, demonstrating a diversity of approaches for solving the most mysterious undiagnosed cases. CONCLUSION: The largest differences across diagnostic workflows suggest that advances in structural variant detection, noncoding variant interpretation, and integration of additional biomedical data may be especially promising for solving chronically undiagnosed cases.

Striatopallidal neurons control avoidance behavior in exploratory tasks.

The dorsal striatum has been linked to decision-making under conflict, but the mechanism by which striatal neurons contribute to approach-avoidance conflicts remains unclear. We hypothesized that striatopallidal dopamine D2 receptor (D2R)-expressing neurons promote avoidance, and tested this hypothesis in two exploratory approach-avoidance conflict paradigms in mice: the elevated zero maze and open field. Genetic elimination of D2Rs on striatopallidal neurons (iMSNs), but not other neural populations, increased avoidance of the open areas in both tasks, in a manner that was dissociable from global changes in movement. Population calcium activity of dorsomedial iMSNs was disrupted in mice lacking D2Rs on iMSNs, suggesting that disrupted output of iMSNs contributes to heightened avoidance behavior. Consistently, artificial disruption of iMSN output with optogenetic stimulation heightened avoidance of open areas of these tasks, while inhibition of iMSN output reduced avoidance. We conclude that dorsomedial striatal iMSNs control approach-avoidance conflicts in exploratory tasks, and highlight this neural population as a potential target for reducing avoidance in anxiety disorders.

Correction: Striatopallidal neurons control avoidance behavior in exploratory tasks.

A correction to this paper has been published and can be accessed via a link at the top of the paper.

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult-onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty-two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.

Development and psychometric property testing of a skin tear knowledge assessment instrument (OASES) in 37 countries.

AIM: To develop and psychometrically evaluate a skin tear knowledge assessment instrument (OASES). DESIGN: Prospective psychometric instrument validation study. METHOD: The skin tear knowledge assessment instrument was developed based on a literature review and expert input (N = 19). Face and content validity were assessed in a two-round Delphi procedure by 10 international experts affiliated with the International Skin Tear Advisory Panel (ISTAP). The instrument was psychometrically tested in a convenience sample of 387 nurses in 37 countries (April-May 2020). Validity of the multiple-choice test items (item difficulty, discriminating index, quality of the response alternatives), construct validity, and test-retest reliability (stability) were analysed and evaluated in light of international reference standards. RESULTS: A 20-item instrument, covering six knowledge domains most relevant to skin tears, was designed. Content validity was established (CVI = 0.90-1.00). Item difficulty varied between 0.24 and 0.94 and the quality of the response alternatives between 0.01-0.52. The discriminating index was acceptable (0.19-0.77). Participants with a theoretically expected higher knowledge level had a significantly higher total score than participants with theoretically expected lower knowledge (p < .001). The 1-week test-retest intraclass correlation coefficient (ICC) was 0.83 (95% CI = 0.78-0.86) for the full instrument and varied between 0.72 (95% CI = 0.64-0.79) and 0.85 (95% CI = 0.81-0.89) for the domains. Cohen's Kappa coefficients of the individual items ranged between 0.21 and 0.74. CONCLUSION: The skin tear knowledge assessment instrument is supported by acceptable psychometric properties and can be applied in nursing education, research, and practice to assess knowledge of healthcare professionals about skin tears. IMPACT: Prevention and treatment of skin tears are a challenge for healthcare professionals. The provision of adequate care is based on profound and up-to-date knowledge. None of the existing instruments to assess skin tear knowledge is psychometrically tested, nor up-to-date. OASES can be used worldwide to identify education, practice, and research needs and priorities related to skin tears in clinical practice.

Cultural adaptation and reliability of the ISTAP Skin Tear Classification System to Chilean Spanish.

OBJECTIVE: The International Skin Tear Advisory Panel (ISTAP) created the ISTAP Skin Tear Classification System with the aim of promoting a common and universal language to describe, classify and document skin tears, and increase awareness of the high prevalence of these wounds. Although there is a Spanish version of the ISTAP Skin Tear Classification System, the authors considered it relevant to have a specific Chilean Spanish version. The aim was to achieve the cultural adaptation of the ISTAP Skin Tear Classification System to Chilean Spanish, and verify its content validity and inter-rater reliability. METHOD: The study consisted of two phases: cultural adaptation of the ISTAP Skin Tear Classification System into Chilean Spanish, and validation of the culturally adapted system. A convenience sample of 150 health professionals classified 30 photographs of skin tears, using the same photographs used in the original ISTAP skin tear classification and validation study. Additionally, the clinical application of the classification system was tested among 20 nurses, who assessed and classified the skin tears (n=24) of hospitalised patients. For analysis of the inter-rater reliability, Fleiss' kappa was used. RESULTS: The differences found in the translation referred to a synonym of the terms 'skin' or 'cutaneous', and the terms 'flap' or 'tear'. Once analysed and discussed, the term 'desgarro' was maintained, which is the translation of the English term 'flap'. There is no equivalent term for 'skin tears' in Spanish, but consensus was reached by researchers and collaborators to use the phrase: 'desgarro de piel'. Once a consensus was reached on the wording for the translation, back-translation was completed and compared with the original English version and reviewed by the original author of the classification for accuracy. The content validity of the translated version of the ISTAP Skin Tear Classification System into Chilean Spanish showed a moderate agreement for the non-specialised nurses' group (0.4804) and for the specialised nurses' group (0.5308). Inter-rater reliability was achieved by obtaining a moderate agreement (Fleiss' kappa=0.53) and an almost perfect level of agreement for clinical application (Fleiss' kappa=0.83). CONCLUSION: The reported content validity and inter-rater reliability support the applicability of the cultural adaptation of the ISTAP Skin Tear Classification System to Chilean Spanish into practice.

Risk Factors Associated with Skin Tear Development in the Canadian Long-term Care Population.

BACKGROUND: Skin tears (STs) are prevalent wounds found in aging populations and in particular among those living in long-term care (LTC) settings. They are often misunderstood as expected outcomes of aging and as a result are frequently underrecognized and undertreated. Although many factors have been associated with ST development, there is little evidence to corroborate their roles as ST risks. OBJECTIVE: To examine the risk factors associated with ST development in the Ontario LTC population. METHODS: A prospective study design was used to explore the risk factors associated with ST development. A total of 380 individuals 65 years or older from four LTC facilities in Ontario were examined for STs at the beginning of the study and at week 4 to determine if STs had occurred. RESULTS: The study found an ST prevalence of 20.8% and an incidence of 18.9%. History of an ST at baseline (relative ratio [RR], 1.84; 95% confidence interval [CI], 1.25-2.70; P = .002); the presence of skin changes associated with aging, ecchymosis, and hematomas (RR, 1.60; 95% CI, 1.43-1.79; P < .001); chronic disease (RR, 1.17; 95% CI, 1.03-1.32; P = .018); requiring assistance with activities of daily living (RR, 1.13; 95% CI, 1.08-1.18; P < .001); and displaying aggressive behavior (RR, 1.06; 95% CI, 1.02-1.10; P = .001) were key risk factors associated with ST development. CONCLUSIONS: These results provide much needed Ontario data on the risk factors associated with ST development and can be used to support prevention programs mitigating ST risk.

Wound Bed Preparation 2021.

GENERAL PURPOSE: To present the 2021 update of the Wound Bed Preparation paradigm. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After participating in this educational activity, the participant will: 1. Apply wound assessment strategies. 2. Identify patient concerns about wound care. 3. Select management options for healable, nonhealable, and maintenance wounds.

Wound Bed Preparation is a paradigm to optimize chronic wound treatment. This holistic approach examines the treatment of the cause and patient-centered concerns to determine if a wound is healable, a maintenance wound, or nonhealable (palliative). For healable wounds (with adequate blood supply and a cause that can be corrected), moisture balance is indicated along with active debridement and control of local infection or abnormal inflammation. In maintenance and nonhealable wounds, the emphasis changes to patient comfort, relieving pain, controlling odor, preventing infection by decreasing bacteria on the wound surface, conservative debridement of slough, and moisture management including exudate control. In this fourth revision, the authors have reformulated the model into 10 statements. This article will focus on the literature in the last 5 years or new interpretations of older literature. This process is designed to facilitate knowledge translation in the clinical setting and improve patient outcomes at a lower cost to the healthcare system.

Patients as Partners in Rare Disease Diagnosis and Research.

There is great value in understanding the patient perspective in rare disease diagnosis and research, and in partnering actively with patients and their families throughout the process. Meaningful and respectful interaction between patients and researchers leads to learning on both sides, and ultimately, to better research outcomes. Researchers can help patients understand how research is conducted and what the latest advances and perceived gaps in research are, and patients, who have direct experience living with their health conditions, can impart to researchers what is most important to them. We describe our engagement with patients in the Undiagnosed Diseases Network (UDN) program, as well as the lessons we have learned to date. In the UDN, patients have been instrumental in bringing meaning to the work of clinicians and researchers, building patient communities, making the network aware of unmet patient needs, advocating for additional research funding, and disseminating UDN research findings. Although patient engagement in the UDN has already had a significant positive impact on our work, we continue to strive to involve patients earlier in the process, in the research design itself, and in addressing power dynamics that may arise between clinicians, researchers, and patients.

Skin tear prevalence and incidence in the long-term care population: a prospective study.

OBJECTIVE: The World Health Organization estimates that between 2015 and 2050 the proportion of the world's population over 60 years old will nearly double from 12% to 22%. An often overlooked byproduct of ageing is the skin changes associated with it, which heighten the risk of developing skin tears. Despite this presumed increased risk, the true impact of skin tears across age groups and care settings is poorly understood. The purpose of the present study was to establish the prevalence and incidence of skin tears in the Ontario long-term care population. METHOD: A prospective study design was used to explore the prevalence and incidence of skin tears. Individuals from four long-term care facilities in Ontario were followed over four weeks. The participants were examined for skin tears at the beginning of the study and at week four to determine whether skin tears had occurred and to record the skin tear type and location. RESULTS: A total of 380 individuals, aged 65 years and over, took part. The study found a skin tear prevalence of 20.8% and an incidence of 18.9% within four weeks. These results provide much needed data on the burden of skin tears in the long-term care population. Conclusion: The present study is an important first step towards developing a prevention programme targeting individuals at risk for skin tears in long-term care.