Burn survivors experience profound physiological changes following injury, which may have lasting implications for cardiovascular health. This study aims to investigate the cardiovascular risk profile among burn survivors treated at a burn center in northern Iran. This observational study was conducted from 2022 to 2023 at the burn centre affiliated with Guilan University of Medical Sciences, Rasht, Iran. This study assessed a cohort study of 210 burn survivors, focusing on individuals with ≥20% TBSA burn injuries who had recovered and returned to their daily lives. This study assessed patients' lipid profiles, Framingham General Cardiovascular Risk Score (FGCRS) and risk factors, including demographics, clinical variables and physical activity. Statistical analysis employed descriptive and inferential statistics. The mean age was 49.23 years, and the mean TBSA burned was 37.06%. The risk of cardiovascular disease in 66% of the study population was less than 10%, and in 13%, it was more than 20%. Significant associations were identified between CVD risk and sex, diabetes, hypertension, BMI, TBSA burned, years after burn, physical activity level and LDL. Of the lipid profile measures, LDL, triglycerides and TC/HDL exceeded the desirable levels. This research highlights the heightened cardiovascular risk in burn survivors, emphasizing the necessity for targeted interventions and regular monitoring. Identifying modifiable risk factors enables healthcare practitioners to develop tailored strategies, enhancing cardiovascular health in this vulnerable population and improving overall outcomes and quality of life.
To assess the prevalence and factors associated with cyberbullying and cyber-victimisation among high school adolescents of Pokhara Metropolitan City, Nepal.
A cross-sectional study.
Pokhara Metropolitan City, Nepal.
We used convenient sampling to enrol 450 adolescents aged 16–19 years from four distinct higher secondary schools in Pokhara Metropolitan City.
We administered the Cyberbullying and an Online Aggression Survey to determine the prevalence of cyberbullying and cyber-victimisation. Univariate and multivariate logistic regression analyses were performed to estimate the ORs and 95% CIs. Data were analysed using STATA V.13.
The 30-day prevalence of cyberbullying and cyber-victimisation was 14.4% and 19.8%, and the over-the-lifetime prevalence was 24.2% and 42.2%, respectively. Posting mean or hurtful comments online was the most common form of both cyberbullying and cyber-victimisation. Compared with females, males were more likely to be involved in cyberbullying (adjusted OR (AOR)=13.52; 95% CI: 6.04 to 30.25; p value
The study recommends the implementation of cyber-safety educational programmes, and counselling services including the rational use of internet and periodic screening for cyberbullying in educational institutions. The enforcement of strong anti-bullying policies and regulations could be helpful to combat the health-related consequences of cyberbullying.
by Aishwarya Subramanian, Rachel M. Germain
Animals navigate landscapes based on perceived risks vs. rewards, as inferred from features of the landscape. In the wild, knowing how strongly animal movement is directed by landscape features is difficult to ascertain but widespread disturbances such as wildfires can serve as natural experiments. We tested the hypothesis that wildfires homogenize the risk/reward landscape, causing movement to become less directed, given that fires reduce landscape complexity as habitat structures (e.g., tree cover, dense brush) are burned. We used satellite imagery of a research reserve in Northern California to count and categorize paths made primarily by mule deer (Odocoileus hemionus) in grasslands. Specifically, we compared pre-wildfire (August 2014) and post-wildfire (September 2018) image history layers among locations that were or were not impacted by wildfire (i.e., a Before/After Control/Impact design). Wildfire significantly altered spatial patterns of deer movement: more new paths were gained and more old paths were lost in areas of the reserve that were impacted by wildfire; movement patterns became less directed in response to fire, suggesting that the risk/reward landscape became more homogenous, as hypothesized. We found evidence to suggest that wildfire affects deer populations at spatial scales beyond their scale of direct impact and raises the interesting possibility that deer perceive risks and rewards at different spatial scales. In conclusion, our study provides an example of how animals integrate spatial information from the environment to make movement decisions, setting the stage for future work on the broader ecological implications for populations, communities, and ecosystems, an emerging interest in ecology.Forcibly displaced people (FDP) have a high risk of developing mental disorders such as post-traumatic stress (PTS) disorder. Providing adequate mental healthcare for FDP is crucial but despite overall efficacy of many existing interventions, a large proportion of FDP does not benefit from treatment, highlighting the necessity of further investigating factors contributing to individual differences in treatment outcome. Yet, the few studies that have explored moderators of treatment effects are often insufficiently powered. Therefore, the present Individual Patient Data meta-analysis (IPD-MA) will investigate treatment effects and their moderators—variables related to beneficiaries, providers, intervention and study characteristics in relation to PTS outcomes.
A systematic literature search will be conducted from database inception in the databases PsycINFO, Cochrane, Embase, PTSDpubs and Web of Science. Only studies published in English, German, French, Spanish, Portuguese, and Dutch will be considered. Retrieved records will be screened for eligibility. Randomised controlled trials on adult FDP receiving psychological and psychosocial interventions aimed at alleviating symptoms such as PTS compared with a control condition without intervention will be included in this IPD-MA. Subsequently, authors of eligible studies will be contacted to request individual patient data (IPD). All datasets obtained will be synthesised into one large dataset which will be analysed using a one-stage approach by conducting mixed-effects linear regression models (ie, primary analysis). Additionally, aggregate data meta-analyes will be run using a two-stage approach by conducting multivariate regression models including all IPD (transformed) and available meta-data from study reports (ie, secondary analysis). PTS will serve as primary outcome measure, while mental health outcomes other than PTS, attendance, attrition, treatment non-response and adverse outcomes will be examined as secondary outcomes.
This IPD-MA does not require ethical approval. The results will be published in international peer-reviewed journals.
CRD42022299510.
The aims of the study were to describe the processes used to introduce advanced practice nursing roles and factors that facilitated or hindered role implementation, examine the time advanced practice nurses (APNs) spend in role activities and how these activities relate to domains of advanced practice nursing and examine how implementation processes influenced APN integration within healthcare teams.
A multiple case study was conducted.
Five cases were included, representing the four population areas approved for advanced practice nursing in France. Data were collected from January to March 2021 using observation, interview and document analysis methods. Data were examined using thematic analysis.
Participants included APNs (n = 5), nurses/allied health providers (n = 5), physicians (n = 5), managers (n = 4) and decision-makers (n = 4). Stakeholder engagement and leadership provided by decision-makers, managers, physicians and APNs facilitated role implementation. Poor stakeholder role understanding, uncertain role funding, and the COVID-19 pandemic hindered role implementation. APNs spent the most time in clinical activities. Participants perceived the integration of APNs within the healthcare team and their impact on patient care to be positive.
Stakeholder engagement and organizational and APN leadership facilitated the implementation of the roles, especially related to team-based patient care. Further efforts are needed to strengthen APN involvement in non-clinical activities and address role barriers.
Systematic and system-wide approaches are needed to improve role clarity, role autonomy and health systems integration of APNs. Research should examine patient perspectives about APNs in France.
The results highlight how policies can create favourable conditions for advanced practice nursing role implementation in France. Internationally, this study serves as a reminder to APNs and nurse leaders about the strategies for and importance of implementation evaluation to support the optimal development of advanced practice nursing roles.
The study reporting followed the Consolidated Criteria for Reporting Qualitative Research.
No Patient or Public Contribution.
by Maryam N. Chaudhary, Voon-Ching Lim, Erwin Martinez Faller, Pramod Regmi, Nirmal Aryal, Siti Nursheena Mohd Zain, Adzzie Shazleen Azman, Norhidayu Sahimin
BackgroundGlobally, 390 million dengue virus infections occur per year. In Malaysia, migrant workers are particularly vulnerable to dengue fever (DF) due to mosquito breeding sites exposure and poor health literacy. Therefore, this study aimed to (i) assess the current DF knowledge, attitudes and practices (KAP), and (ii) identify strategies to promote DF awareness, among migrant workers in Klang Valley.
MethodA survey was conducted with 403 Nepali, Filipino and Indonesian migrant workers through phone interviews and online self-administered questionnaires. Piecewise structural equation modelling was applied to identify predictor variables for DF KAP.
ResultsMost respondents were male, working in the services industry, had completed high school, aged between 30–39 years and with less than ten years work experience in Malaysia. Overall, respondents’ knowledge was positively correlated with attitude but negatively with practices. Older respondents, who had completed higher education, obtained higher knowledge scores. Similarly, those with working experience of >20 years in Malaysia obtained higher attitude scores. Respondents with a previous history of DF strongly considered the removal of mosquito breeding sites as their own responsibility, hence tended to frequently practise DF preventive measures. Respondents’ knowledge was also positively correlated to their understanding of DF information sourced from social media platforms.
ConclusionThese findings highlighted: (i) the need for targeted DF educational intervention among younger and newly arrived workers with lower levels of education and (ii) maximising the usage of social media platforms to improve DF public awareness.
To synthesise and appraise the evidence of the efficacy of serious games in reducing chronic pain among older adults.
Chronic pain in older adults generally results in a substantial handicap due to decreased mobility, exercise avoidance and various concerns that affect their overall quality of life. While serious games have been widely used as a pain management approach, no reviews have thoroughly examined their efficacy for chronic pain management in older adult populations.
A systematic review and meta-analysis.
The CINAHL, the Cochrane Library, Embase, Medline, PubMed and Web of Science databases were comprehensively searched to find articles published from their inception until 17 April 2023. RoB-2 was used to assess the risk of bias in the included studies. The efficacy of serious games for pain management in older individuals was investigated using pooled standardised mean differences (SMDs) in pain reduction using a random effect model.
The meta-analysis comprised nine randomised controlled trials that included 350 older adult patients with pain. Serious games effectively alleviated pain in this group (pooled SMD = −0.62; 95% confidence interval: −1.15 to −0.10), although pain-related disability and fear require further investigation.
Serious games tended to effectively reduce pain in this older adult group; however, due to a lack of randomised controlled trials, the analysis found lower effectiveness in reducing pain-related disability and fear. Further studies are accordingly required to confirm these findings.
The findings of the study emphasise the importance of serious games to increase the motivation of older adults to exercise as one of the safe and extensively used pain management strategies. Serious games that effectively reduce chronic pain in older adults are characterised as consisting of diverse physical activities delivered through consoles, computer-based activities and other technologies.
Serious games are recommended as being potentially useful and practical for reducing pain in older adults.
by Sabina Marasini, Sudim Sharma, Anjali Joshi, Surakshya Kunwar, Roshan Kumar Mahato, Archana Shrestha, Biraj Karmacharya
BackgroundInappropriate use of antimicrobials is a global public health issue, particularly in developing countries, including Nepal, where over-the-counter sales and self-medication of antimicrobials are common.
ObjectivesTo explore knowledge, perceptions, and practices of antimicrobials and their resistance among medicine dispensers and community members in Nepal.
MethodsThe study was conducted in three rural and five urban municipalities of the Kavrepalanchok district from May 2021 to August 2021. Data were collected using two qualitative approaches: In-Depth Interviews (IDIs) and Focus Group Discussions (FGDs). Data were analyzed using thematic analysis that combined deductive and inductive approaches to identify codes under pre-specified themes.
ResultsA total of 16 In-depth interviews with medicine dispensers and 3 focus group discussions with community members were conducted. Knowledge regarding antimicrobial resistance varied among dispensers. Those with a prior educational background in pharmacy often had good knowledge about the causes and consequences of antimicrobial resistance. Meanwhile, consumers were less aware of antimicrobial resistance. Community members perceived antimicrobials as effective medicines but not long-term solution for treating diseases. They reported that dispensing without a prescription was common and that both consumers and dispensers were responsible for the inappropriate use of antimicrobials. On the contrary, several dispensers said that self-medication was common among the consumers, especially among more educated groups. The medicine dispensers and consumers expressed concerns about the weak enforcement of policies regarding pharmacy drug use and dispensing practices.
ConclusionPromoting and strengthening the appropriate use of antimicrobials among medicine dispensers and community members is crucial. Bold policies and collective implementation of regulations could help combat antimicrobial resistance.
by Rebecca H. Correia, Darly Dash, Aaron Jones, Meredith Vanstone, Komal Aryal, Henry Yu-Hin Siu, Aquila Gopaul, Andrew P. Costa
We established consensus on practice-based metrics that characterize quality of care for older primary care patients and can be examined using secondary health administrative data. We conducted a two-round RAND/UCLA Appropriateness Method (RAM) study and recruited 10 Canadian clinicians and researchers with expertise relevant to the primary care of elderly patients. Informed by a literature review, the first RAM round evaluated the appropriateness and importance of candidate quality measures in an online questionnaire. Technical definitions were developed for each endorsed indicator to specify how the indicator could be operationalized using health administrative data. In a virtual synchronous meeting, the expert panel offered feedback on the technical specifications for the endorsed indicators. Panelists then completed a second (final) questionnaire to rate each indicator and corresponding technical definition on the same criteria (appropriateness and importance). We used statistical integration to combine technical expert panelists’ judgements and content analysis of open-ended survey responses. Our literature search and internal screening resulted in 61 practice-based quality indicators for rating. We developed technical definitions for indicators endorsed in the first questionnaire (n = 55). Following the virtual synchronous meeting and second questionnaire, we achieved consensus on 12 practice-based quality measures across four Priority Topics in Care of the Elderly. The endorsed indicators provide a framework to characterize practice- and population-level encounters of family physicians delivering care to older patients and will offer insights into the outcomes of their care provision. This study presented a case of soliciting expert feedback to develop measurable practice-based quality indicators that can be examined using administrative data to understand quality of care within population-based data holdings. Future work will refine and operationalize the technical definitions established through this process to examine primary care provision for older adults in a particular context (Ontario, Canada).by Zaid Hattab, Edel Doherty, Andrew M. Ryan, Stephen O’Neill
Existing evidence regarding the effects of Medicaid expansion, largely focused on aggregate effects, suggests health insurance impacts some health, healthcare utilization, and financial hardship outcomes. In this study we apply causal forest and instrumental forest methods to data from the Oregon Health Insurance Experiment (OHIE), to explore heterogeneity in the uptake of health insurance, and in the effects of (a) lottery selection and (b) health insurance on a range of health-related outcomes. The findings of this study suggest that the impact of winning the lottery on the health insurance uptake varies among different subgroups based on age and race. In addition, the results generally coincide with findings in the literature regarding the overall effects: lottery selection (and insurance) reduces out-of-pocket spending, increases physician visits and drug prescriptions, with little (short-term) impact on the number of emergency department visits and hospital admissions. Despite this, we detect quite weak evidence of heterogeneity in the effects of the lottery and of health insurance across the outcomes considered.by Vijay M. Ravindra, Lorraina Robinson, Hailey Jensen, Elena Kurudza, Evan Joyce, Allison Ludwick, Russell Telford, Osama Youssef, Justin Ryan, Robert J. Bollo, Rajiv R. Iyer, John R. W. Kestle, Samuel H. Cheshier, Daniel S. Ikeda, Qinwen Mao, Douglas L. Brockmeyer
IntroductionThe fibrous posterior atlanto-occipital membrane (PAOM) at the craniocervical junction is typically removed during decompression surgery for Chiari malformation type I (CM-I); however, its importance and ultrastructural architecture have not been investigated in children. We hypothesized that there are structural differences in the PAOM of patients with CM-I and those without.
MethodsIn this prospective study, blinded pathological analysis was performed on PAOM specimens from children who had surgery for CM-I and children who had surgery for posterior fossa tumors (controls). Clinical and radiographic data were collected. Statistical analysis included comparisons between the CM-I and control cohorts and correlations with imaging measures.
ResultsA total of 35 children (mean age at surgery 10.7 years; 94.3% white) with viable specimens for evaluation were enrolled: 24 with CM-I and 11 controls. There were no statistical demographic differences between the two cohorts. Four children had a family history of CM-I and five had a syndromic condition. The cohorts had similar measurements of tonsillar descent, syringomyelia, basion to C2, and condylar-to-C2 vertical axis (all p>0.05). The clival-axial angle was lower in patients with CM-I (138.1 vs. 149.3 degrees, p = 0.016). Morphologically, the PAOM demonstrated statistically higher proportions of disorganized architecture in patients with CM-I (75.0% vs. 36.4%, p = 0.012). There were no differences in PAOM fat, elastin, or collagen percentages overall and no differences in imaging or ultrastructural findings between male and female patients. Posterior fossa volume was lower in children with CM-I (163,234 mm3 vs. 218,305 mm3, p Conclusions
In patients with CM-I, the PAOM demonstrates disorganized architecture compared with that of control patients. This likely represents an anatomic adaptation in the presence of CM-I rather than a pathologic contribution.
To explore the satisfaction and experiences of women and staff with the BSOTS in an Australian hospital.
Cross-sectional descriptive survey.
Surveys were distributed to women and staff between February and May 2022. Survey questions reflected satisfaction with triage and provision of care under the BSOTS system (for women) and confidence in using the BSOTS system and its impact on triage-related care (for staff). Survey data were summarized using descriptive statistics, and qualitative responses were analysed using content analysis.
There were 50 women and 40 staff (midwives and doctors) survey respondents. Most women were satisfied with triage wait times, the verbal information they received and the time it took for them to receive care. Nearly all midwife participants indicated they had high knowledge and confidence in using the BSOTS. Most staff indicated that the BSOTS supported the accurate assessment of women and had benefits for women, staff and the hospital.
The findings showed that women and staff were satisfied with receiving and providing care in a maternity triage setting under the BSOTS system.
Implementing standardized maternity triage approaches such as the BSOTS in health settings delivering care to pregnant women is recommended for improving flow of care and perceptions of care quality by women.
Quality of maternity triage processes is likely to impact the satisfaction of women attending services and the staff providing care. The BSOTS was shown to improve maternity triage processes and was associated with satisfaction of women and staff. Maternity settings can benefit from implementing triage approaches such as the BSOTS as it standardizes and justifies the care provided to women. This is likely to result in satisfaction of women and staff engaged in maternity triage and improve the birth outcomes of women and babies.
The reporting of this paper has followed SQUIRE guidelines.
Women engaged with maternity services were participants in the study but did not contribute to the design, conduct or publication of the study.
Delirium is described as acute brain dysfunction that often fluctuates throughout the day and is highly prevalent in hospitalized adults. Delirium negatively affects patient outcomes with consequences including decreased cognitive functioning and increased mortality and healthcare costs. Furthermore, neurological patients are at increased risk for developing delirium due to their underlying diagnoses.
The purpose of this evidence-based practice project was to evaluate the long-term impact of nursing education and use of trained volunteers to prevent the development of delirium in an inpatient neuroscience unit.
This was a pre–post designed evidence-based practice project to educate and prioritize nursing care interventions for delirium prevention compared to a delirium management framework. The interventions included delirium education for nurses and nursing assistants along with the development of a specialized volunteer program to implement non-pharmacological, multi-component delirium prevention interventions. Long-term sustainment and enculturation occurred over the subsequent year.
The baseline data collection period included 2520 patients. The intervention period included 4515 patients, with both groups being similar in age, race, gender, and length of stay. The total number of patients with a discharge diagnosis of delirium decreased from 29.2% to 19.8% (p < .001). Fewer patients in the intervention group were discharged to a skilled nursing facility (p < .001) and other post-acute facility (p = .008), along with more patients being discharged to home care (p < .001).
This evidence-based practice project demonstrates long-term sustained reduction of delirium in the neuroscience population. Despite the challenges during the COVID-19 pandemic, delirium prevention strategies were found to be effective in decreasing the rate at which patients develop delirium.
by Woro Estiningtyas, Elza Surmaini, Suciantini, Erni Susanti, Anny Mulyani, Budi Kartiwa, Sumaryanto, Perdinan, Yayan Apriyana, Annisa Dhienar Alifia
As a result of plans to relocate the Indonesian capital city to East Kalimantan province, Kalimantan is expected to develop rapidly and the surrounding regencies and provinces will become food support areas for the new capital. However, the vulnerability of food farming in Kalimantan is a concern that must be addressed to ensure food security. This study aims to assess the vulnerability of food farming at the regency level of the island of Kalimantan, to assess the determinant factors of the food farming vulnerability and to compose adaptation measures that can reduce vulnerability. Socio economic, climate, water and land data are sorted and analyzed to represent the level of sensitivity and exposure index (SEI) and adaptive capacity index (ACI). Locations with ‘High’ and ‘Very High’ levels of farming vulnerability become interview sites with a total of 150 respondents. The results of the interviews strengthen the results of the vulnerability analysis which helps to determine the condition of farmers and food farming in vulnerable locations. The results indicated ‘Very High’ and ‘High’ level of vulnerability in 14 regencies/cities. Floods are climate-related disasters that most often affect farmers surveyed (46%), followed by droughts (30%) and pest attacks (24%) with significant impacts (49%). The identification of the determinant factors becomes the basis for adaptive measures to support decision-makers, local practitioners, and farmers by highlighting local challenges and proposing local-specific adaptation strategies.by Alex Buga, David G. Harper, Teryn N. Sapper, Parker N. Hyde, Brandon Fell, Ryan Dickerson, Justen T. Stoner, Madison L. Kackley, Christopher D. Crabtree, Drew D. Decker, Bradley T. Robinson, Gerald Krystal, Katherine Binzel, Maryam B. Lustberg, Jeff S. Volek
PurposeKetogenic diets may positively influence cancer through pleiotropic mechanisms, but only a few small and short-term studies have addressed feasibility and efficacy in cancer patients. The primary goals of this study were to evaluate the feasibility and the sustained metabolic effects of a personalized well-formulated ketogenic diet (WFKD) designed to achieve consistent blood beta-hydroxybutyrate (βHB) >0.5 mM in women diagnosed with stage IV metastatic breast cancer (MBC) undergoing chemotherapy.
MethodsWomen (n = 20) were enrolled in a six month, two-phase, single-arm WFKD intervention (NCT03535701). Phase I was a highly-supervised, ad libitum, personalized WFKD, where women were provided with ketogenic-appropriate food daily for three months. Phase II transitioned women to a self-administered WFKD with ongoing coaching for an additional three months. Fasting capillary βHB and glucose were collected daily; weight, body composition, plasma insulin, and insulin resistance were collected at baseline, three and six months.
ResultsCapillary βHB indicated women achieved nutritional ketosis (Phase I mean: 0.8 mM (n = 15); Phase II mean: 0.7 mM (n = 9)). Body weight decreased 10% after three months, primarily from body fat. Fasting plasma glucose, plasma insulin, and insulin resistance also decreased significantly after three months (p Conclusions
Women diagnosed with MBC undergoing chemotherapy can safely achieve and maintain nutritional ketosis, while improving body composition and insulin resistance, out to six months.
Tailored models of home-based palliative care aimed to support death at home, should also ensure optimal symptom control. This study aimed to explore symptom occurrence and distress over time in Palliative Extended And Care at Home (PEACH) model of care recipients.
This was a prospective cohort study.
Participants were consecutive recipients of the PEACH rapid response nurse-led model of care in metropolitan Sydney (December 2013–January 2017) who were in the last weeks of life with a terminal or deteriorating phase of illness and had a preference to be cared or die at home.
Deidentified data including sociodemographic and clinical characteristics, and symptom distress scores (Symptom Assessment Score) were collected at each clinical visit. Descriptive statistics and forward selection logistic regression analysis were used to explore influence of symptom distress levels on mode of separation ((1) died at home while still receiving a PEACH package, (2) admitted to a hospital or an inpatient palliative care unit or (3) discharged from the package (alive and no longer requiring PEACH)) across four symptom distress level categories.
1754 consecutive clients received a PEACH package (mean age 70 years, 55% male). 75.7% (n=1327) had a home death, 13.5% (n=237) were admitted and 10.8% (n=190) were still alive and residing at home when the package ceased. Mean symptom distress scores improved from baseline to final scores in the three groups (p
Tailored home-based palliative care models to meet preference to die at home, achieve this while maintaining symptom control. A focus on particular symptoms may further optimise these models of care.
Incidents of maternal morbidity and mortality (MMM) continue to rise in the USA. Significant racial and ethnic health inequities exist, with Native American (NA) women being three to four times more likely to die than white, non-Hispanic women, and three to five times more likely to experience an incident of severe maternal morbidity. Few studies have identified individual and community-level risk factors of MMM experienced by NA women. Therefore, this systematic review will identify said risk factors of MMM experienced by NA women in the USA.
This systematic review will be conducted according to the Cochrane Handbook for Systematic Reviews, and the findings will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRISMA). The search strategy will include searches from electronic databases: PUBMED, EMBASE, CINAHL and SCOPUS, from 1 January 2012 to 10 October 2022. The search strategy will include terms related to the search concepts: ‘maternal’, ‘Native American’ and ‘MMM’. Bibliographies of selected articles, previously published reviews and high-yield journals will also be searched. All included papers will be evaluated for quality and bias using NIH Quality Assessment Tools for Observational Studies. A description of the study findings will be presented in a tabular format organised by outcome of interest along with study characteristics.
There are no formal ethics approvals needed for this protocol. The findings of this systematic review will be shared with academic, governmental, community-based, institutes and NA (tribal) entities via a published peer-reviewed article, informational brief, poster and oral presentations.
CRD42022363405.
by Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
Multiocular defect has been described in different canine breeds, including the Old English Sheepdog. Affected dogs typically present with multiple and various ocular abnormalities. We carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with hereditary cataracts at the age of five and then referred to a board-certified veterinary ophthalmologist due to owner-reported visual deterioration. An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cataracts. Follow-up consultations revealed cataract progression, retinal detachment, uveitis and secondary glaucoma. Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three control dogs without evidence of inherited eye disease). Only one of the twenty-two variants segregated correctly with multiocular defect. The variant is a single nucleotide substitution, located in the collagen-type gene COL11A1, c.1775T>C, that causes an amino acid change, p.Phe1592Ser. Genotyping of an additional 14 Old English Sheepdogs affected by multiocular defect revealed a dominant mode of inheritance with four cases heterozygous for the variant. Further genotyping of hereditary cataract-affected Old English Sheepdogs revealed segregation of the variant in eight out of nine dogs. In humans, variants in the COL11A1 gene are associated with Stickler syndrome type II, also dominantly inherited.