Did the COVID-19 quarantine policies applied in Cochabamba, Bolivia mitigated cases successfully? an interrupted time series analysis.

BACKGROUND: The COVID-19 pandemic prompted varied policy responses globally, with Latin America facing unique challenges. A detailed examination of these policies' impacts on health systems is crucial, particularly in Bolivia, where information about policy implementation and outcomes is limited. OBJECTIVE: To describe the COVID-19 testing trends and evaluate the effects of quarantine measures on these trends in Cochabamba, Bolivia. METHODS: Utilizing COVID-19 testing data from the Cochabamba Department Health Service for the 2020-2022 period. Stratified testing rates in the health system sectors were first estimated followed by an interrupted time series analysis using a quasi-Poisson regression model for assessing the quarantine effects on the mitigation of cases during surge periods. RESULTS: The public sector reported the larger percentage of tests (65%), followed by the private sector (23%) with almost double as many tests as the public-social security sector (11%). In the time series analysis, a correlation between the implementation of quarantine policies and a decrease in the slope of positive rates of COVID-19 cases was observed compared to periods without or with reduced quarantine policies. CONCLUSION: This research underscores the local health system disparities and the effectiveness of stringent quarantine measures in curbing COVID-19 transmission in the Cochabamba region. The findings stress the importance of the measures' intensity and duration, providing valuable lessons for Bolivia and beyond. As the global community learns from the pandemic, these insights are critical for shaping resilient and effective health policy responses.

Main findings: The findings highlight the importance of stringent quarantine measures in managing infectious disease outbreaks, offering valuable insights for policymakers worldwide in strategizing effective public health interventions.Added knowledge: By providing a detailed analysis of testing disparities and quarantine policies' effectiveness within a specific Latin American context, our research fills a critical gap in understanding their impacts on health system responses and disease control.Global health impact for policy and action: The findings highlight the importance of stringent quarantine measures in managing infectious disease outbreaks, offering valuable insights for policymakers worldwide in strategizing effective public health interventions.

More than meets the eye: a critical discourse analysis of a Swedish health system reform.

BACKGROUND: In line with international trends acknowledging the importance of Primary Health Care (PHC) for improving population health and reducing health inequalities, the Swedish health system is undergoing a restructuring towards the coordinated development of a modern, equitable, accessible, and effective system, with PHC principles and functions at its core. Since discursive analyses of documents underpinning PHC reforms are scarce in Sweden and beyond, the aim of this study was to explore how the reorientation towards good quality and local health care has been represented in official government reports. METHODS: Based on a policy-as-discourse analysis, four Swedish Government Official Reports underpinning the good quality and local health care reform were interrogated following four questions of Bacchi's "What's the Problem Represented to be?" (WPR) approach. By applying the first WPR question, concrete proposals guiding the reorientation were identified, analyzed and thematized into candidate problem representations. These problem representations were then analyzed in relation to previous empirical and conceptual research considering WPR questions two and three, which resulted in the development of three problem representations. Potential silences that the problem representations might produce were then identified by applying WPR question four. RESULTS: The three problem representations connected the Swedish health system "problem" to a narrow mission, a siloed structure, and a front-line service disconnected, especially from the needs and preferences of individual patients. By representing the problem along these lines, the analysis also illustrated how the policy reorientation towards good quality and local health care risk silencing important PHC aspects such as health promotion, equitable access, and human resources. CONCLUSION: The results from this study indicate that as discursively framed within concrete proposals, government official reports in Sweden represent the health system problem in particular ways and with these problem representations overlooking several aspects that are central to a health system characterized by PHC principles and functions. In the continued reorientation towards good quality and local health care, these silences might need to be acknowledged.

Critical components of social prescribing programmes with a focus on older adults - a systematic review.

AIMS: The aim of this study was to identify and evaluate critical components within social prescribing programmes that can impact loneliness, health, or well-being among older adults. METHODS: A systematic review with a narrative synthesis was conducted by systematically searching five databases. A total of 1193 hits were identified, screened, and assessed. Twelve studies were included, with data being extracted and deductively analysed in an iterative manner and then tabulated together with outcomes in order to find common narratives. RESULTS: Three critical components were identified: Assessment before prescription, matching participants with relevant activities, and individualised support from link worker. These critical components seemed important for the success of social prescribing programmes since they had an impact on loneliness, health, and well-being. All together, these results highlight the importance of person-centeredness in the prescribing process. CONCLUSIONS: The three critical components identified may prove useful in further research, evaluation, or implementation of social prescribing programmes. Important aspects for further evaluation are discussed.

Limited Association between Antibodies to Oxidized Low-Density Lipoprotein and Vascular Affection in Patients with Established Systemic Lupus Erythematosus.

Patients with systemic lupus erythematosus (SLE) are at an increased risk of cardiovascular disease. We aimed to evaluate whether antibodies to oxidized low-density lipoprotein (anti-oxLDL) were associated with subclinical atherosclerosis in patients with different SLE phenotypes (lupus nephritis, antiphospholipid syndrome, and skin and joint involvement). Anti-oxLDL was measured by enzyme-linked immunosorbent assay in 60 patients with SLE, 60 healthy controls (HCs) and 30 subjects with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). Intima-media thickness (IMT) assessment of vessel walls and plaque occurrence were recorded using high-frequency ultrasound. In the SLE cohort, anti-oxLDL was again assessed in 57 of the 60 individuals approximately 3 years later. The levels of anti-oxLDL in the SLE group (median 5829 U/mL) were not significantly different from those in the HCs group (median 4568 U/mL), while patients with AAV showed significantly higher levels (median 7817 U/mL). The levels did not differ between the SLE subgroups. A significant correlation was found with IMT in the common femoral artery in the SLE cohort, but no association with plaque occurrence was observed. The levels of anti-oxLDL antibodies in the SLE group were significantly higher at inclusion compared to 3 years later (median 5707 versus 1503 U/mL, p < 0.0001). Overall, we found no convincing support for strong associations between vascular affection and anti-oxLDL antibodies in SLE.

Is there a strong association between substantial injuries and previous injuries in adolescent elite athletes? A 1-year prospective cohort study.

INTRODUCTION: Adolescent elite athletes have a high injury risk and many risk factors for injury have been suggested, where the most conclusive risk factor is a previous injury. However, there is a lack of longitudinal data on a complete season in adolescent elite athletes. OBJECTIVES: The aim of the study was to explore the relationship between substantial injuries and previous injuries in adolescent elite athletes. A secondary aim was to explore sex differences in terms of this relationship. METHODS: Injury problems and substantial injury was monitored in adolescent elite athletes (n = 320) using the validated the Oslo Sports Trauma Research Center Questionnaire over 52 weeks. RESULTS: In total, 74% (n = 237) athletes reported at least one substantial injury during the study period. Previous injury problems were reported by 82% (n = 195), where 48% (n = 183) of all substantial injuries occurred within the same body location as a previous injury. Forty-four percent (n = 83) of the substantial injuries occurred within 2 weeks after occurrence of an injury problem. There was no association between sex and number of substantial injuries (p = .956, χ2 = 1.7). Poisson regression analysis demonstrated that 16-year-old athletes had a significantly (p = .034) increased risk of reporting substantial injuries (IRR 1.19, 95% CI: 1.01-1.39), compared to 18-year-old athletes. A high prevalence of substantial injuries occurred closely followed a previous injury in the same body location. CONCLUSION: Exploring rehabilitation following injuries in this age, addressing injury risk behavior when an injury problem has occurred and increasing awareness of the relationship between injury problems and substantial injuries are suggested to be important strategies to reduce substantial injuries in adolescent elite athletes.

Conducting research with young people at the margins - lessons learnt and shared through case studies in Cambodia, India, Sweden and Zambia.

Building on the value of engaging with and enabling the participation of marginalised young people in research, the aim of this article was to profile practical and procedural issues faced when conducting studies with young people who experience some form of marginalisation. Drawing on observations and research experiences from four diverse case studies involving young people who were either imprisoned in Cambodia, living in informal urban communities in North India, residing in rural northern Sweden or attending school in rural Zambia, learnings were identified under three thematic areas. Firstly, a need exists to develop trusting relationships with stakeholders, and especially the participating young people, through multiple interactions. Secondly, the value of research methods that are creative and context sensitive are required to make the process equitable and meaningful for young people. Thirdly, it is important to flatten power relations between adults and young people, researchers and the researched, to maximise participation. These findings can inform future youth research in the field of global public health by detailing opportunities and challenges of engaging in research with young people on the margins to promote their participation.

How can community-based (re)engagement initiatives meet the needs of 'NEET' young people? Findings from the theory gleaning phase of a realist evaluation in Sweden.

OBJECTIVE: There has been a lack of systematic and theoretically underpinned evaluations, internationally and in Sweden, of local multi-component initiatives delivered outside public employment services and formal education systems to young people who are not in employment, education or training ('NEETs'). To bridge this knowledge gap, the objective of this study was to present findings from the theory gleaning phase of a realist evaluation aimed at assessing how Swedish community-based initiatives may work to (re)engage vulnerable 'NEET' young people in education or employment, under what conditions and why. RESULTS: Based on insights gleaned and synthesised from various sources, three candidate programme theories were elicited drawing attention to the importance of community-based initiatives in Sweden adopting a 'caring approach', a 'capability approach' and a 'collaborative approach' to (re)engage 'NEET' young people in education or employment. While limited to the initial phase of theory gleaning, the study provides valuable insights into the potential functioning of (re)engagement initiatives directed towards vulnerable 'NEETs' in addition to increasing the transparency of a highly iterative research project.

Strengthening Community Health Systems Through Novel eHealth Initiatives? Commencing a Realist Study of the Virtual Health Rooms in Rural Northern Sweden.

BACKGROUND: Unlike the large body of research that has examined the 'success' or 'failure' of eHealth in terms of patient and provider perceptions or cost- and clinical effectiveness, the current study teases out ways through which a novel eHealth initiative in rural northern Sweden might result in more distal or systemic beneficial outcomes. More specifically, this paper aims to explore how and under what circumstances the so-called virtual health rooms (VHRs) are expected to improve access to person-centred care and strengthen community health systems, especially for elderly residents of rural areas. METHODS: The first phase of the realist evaluation methodology was conducted, involving qualitative interviews with 8 key stakeholders working with eHealth, business development, digitalisation, and process management. Using thematic analysis and following an abductive-retroductive analytical process, an intervention-context-actor-mechanism-outcome (ICAMO) configuration was developed and elicited into an initial programme theory. RESULTS: The findings indicate that a novel eHealth initiative, which provides reliable technologies in a customized facility that connects communities and providers, might improve access to person-centred care and strengthen community health systems for rural populations. This is theorized to occur if mechanisms acting at individual (such as knowledge, skills and trust) and collective (like a common vision and shared responsibilities) levels are triggered in contexts characterised by supportive societal transitions, sufficient organisational readiness and the harnessing of rural cohesiveness and creativity. CONCLUSION: The elicited initial programme theory describes and explains how a novel eHealth initiative in rural northern Sweden is presumed to operate and under what circumstances. Further testing, refinements and continued gradual building of theory following the realist evaluation methodology is now needed to ascertain if the 'VHRs' work as intended, for whom, in what conditions and why.

Strengthening Research and Practice in Community Health Systems: A Research Agenda and Manifesto.

While there have been increased calls for strengthening community health systems (CHSs), key priorities for this field have not been fully articulated. This paper seeks to fill this gap, presenting a collaboratively defined research agenda, accompanied by a 'manifesto' on strengthening research and practice in the CHS. The CHS research agenda domains were developed through a modified concept mapping process with a team of 33 experts on the CHS including policy-makers, implementers and researchers from institutions in six countries: Uganda, Guatemala, South Africa, Sweden, Tanzania and Zambia. The process began remotely with brainstorming research priorities and concluded in a one-week workshop that was held in Zambia where priorities for strengthening CHS were discussed, grouped into domains, interpreted, and drafted into a collective declaration. Eight domains of research priorities for CHSs were identified: clarifying the purpose and values of the CHS, ensure inclusivity; design, implementation and monitoring of strategies to strengthen the CHS; social, political and historical contexts of CHS; community health workers (CHWs); social accountability; the interface between the CHS and the broader health system; governance and stewardship; and finally, the ethical methodologies for researching the CHS. By harnessing a set of diverse and rich experiences and perspectives on CHS through a structured process, a multifaceted research agenda and manifesto that transcend context, disciplines and time were developed. We posit this as an entry into greater debate and diversity in the field as we continue to find ways to strengthen research and practice in the CHS.

Collective imaginaries of caring landscapes for rural youth: a concept mapping study in northern Sweden.

BACKGROUND: In the current study, the approach of 'utopia as method' was combined with the concept 'landscapes of care' to explore collective imaginaries of caring landscapes in relation to young people living in rural northern Sweden, while focusing specifically on what such landscapes should ideally look like, and how various strategies could help to realise the visions. METHODS: The research was conducted using a modified concept mapping methodology comprising three phases of data collection and analysis. This facilitated the integration of tacit knowledge and utopian visions of young people, professionals and policymakers living and working in various parts of northern Sweden. RESULTS: The results indicated that caring landscapes should: 'provide services responsive to young people's wishes and needs', 'be organised around values of safety, equity and youth participation', and 'rework metro-centredness' in order to care for, with and about rural youth. CONCLUSIONS: The findings can be viewed as an imaginary reconstitution of communities in rural northern Sweden, but also as hypothetical building blocks to be used for developing caring landscapes and a 'good countryside' where young people have the possibility to live a good life in decent health.

Let's Try Social Prescribing in Sweden (SPiS) - an Interventional Project Targeting Loneliness among Older Adults Using a Model for Integrated Care: A Research Protocol.

INTRODUCTION: Loneliness and social isolation among older adults (≥65) are an emerging issue of public concern, associated with increased morbidity and mortality. Today there is no systematic intervention developed, implemented or evaluated in Sweden addressing loneliness. The overall aim for this project is to develop, test and refine a person-centred Swedish model for social prescribing (SPiS), and to assess whether and how it reduces loneliness, promotes health and improves well-being among older adults. DESCRIPTION: The focus will be to develop, culturally adapt, evaluate and refine the SPiS model. Following the sequential structure of realist evaluation in three consecutive phases qualitative and quantitative data along with subsequent analysis methods will be collected and utilized. The project will provide knowledge of what works with the social prescribing model, for whom, in what conditions and why, in relation to loneliness, health and well-being among older adults. DISCUSSION: SPiS has the unique position of providing initial knowledge regarding how to reduce loneliness in the Swedish context. However, evaluation is complex as this research goes beyond the unidimensional question "Is it working?". CONCLUSION: Developing, implementing and evaluating such a complex program needs systematic and close evaluation.

Pentraxin-3 detected in human saliva shows limited correlation with biomarkers associated with systemic inflammation.

Pentraxin-3 (PTX3) is a conserved protein of the innate immune system which has been less studied than the pentraxin C-reactive protein (CRP), but it is of relevance in, for example, vascular pathology and pregnancy morbidities. Since the interest in salivary biomarkers in general is increasing, we asked whether PTX3 could be detected in saliva and if any substantial diurnal variation occurs. In addition, we evaluated association with biomarkers of systemic inflammation (interleukin (IL)-1ß, IL-6, and IL-8 and CRP), body mass index (BMI), smoking, and age. PTX3 in morning and evening saliva from 106 middle-aged participants of the general population was investigated by ELISA and total protein levels by spectrophotometry. PTX3 was detectable in saliva, and concentrations varied over the day with higher morning concentrations, but the PTX3 relative protein levels (percentage of total protein) were significantly higher in the evening. Sex and age did not impact salivary PTX3, but smoking was associated with lower PTX3 levels. BMI correlated positively with PTX3 in evening saliva. There was no general association with biomarkers of systemic inflammation, except for IL-6. Salivary PTX3 likely reflects the local inflammatory milieu, and adjustments for sampling time, smoking habits, and BMI are needed to adequately interpret PTX3 in saliva.

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevalence of 5 to 30%. In this study, by using targeted NGS, MLPA and Sanger sequencing we uncovered the EYS gene as one of the most common genetic cause of autosomal recessive RP in northern Sweden accounting for at least 16%. The most frequent pathogenic variant was c.8648_8655del that in some patients was identified in cis with c.1155T>A, indicating Finnish ancestry. We also showed that two novel EYS variants, c.2992_2992+6delinsTG and c.3877+1G>A caused exon skipping in human embryonic kidney cells, HEK293T and in retinal pigment epithelium cells, ARPE-19 demonstrating that in vitro minigene assay is a straightforward tool for the analysis of intronic variants. We conclude, that whenever it is possible, functional testing is of great value for classification of intronic EYS variants and the following molecular testing of family members, their genetic counselling, and inclusion of RP patients to future treatment studies.

Landscapes of care and despair for rural youth - a qualitative study in the northern Swedish 'periphery'.

BACKGROUND: This study emerges as a response to the lack of youth perspectives when it comes to discussions about access to and experiences of health and social services in rural areas. It subsequently contributes to the literature by positioning young people at the centre of this debate, and by taking a more holistic approach to the topic than is typically the case. Specifically, based on the idea that a good life in proper health for young people may be contingent on notions of care that are bounded up in multi-layered social and spatial environments, the aim of this study was to explore what characterises 'landscapes of care' for rural youth. METHODS: In this qualitative study, the participants included young people and professionals residing in five diverse areas across the northern Swedish 'peripheral' inland. Individual interviews (16 in total) and focus group discussions (26 in total) were conducted with 63 youth aged 14-27 years and with 44 professionals operating across sectors such as health centres, school health, integration units, youth clinics and youth clubs. Following an emergent design and using thematic analysis, we developed one main theme, 'landscapes of care and despair', comprising the two themes: '(dis)connectedness' and 'extended support or troubling gaps'. RESULTS: The findings illustrate how various health-promoting and potentially harmful aspects acting at structural, organisational and interpersonal levels contributed to dynamic landscapes characterised simultaneously by care and despair. In particular, our study shows how rural youths' feelings of belongingness to people and places coupled with opportunities to participate in society and access practical and emotional support appear to facilitate their care within rural settings. However, although the results indicate that some in the diverse group of rural youth were cared for and about, a negative picture was painted in parallel. These aspects of despair included youths' senses of exclusion and marginalisation, degrading attitudes towards them and their problems, as well as recurrent gaps in the provision and practices of care. CONCLUSIONS: To gain a more comprehensive understanding about the health of rural youth, this study highlights the benefits investigating 'care-ful' and 'uncaring' aspects bounded up in dynamic and multi-layered landscapes.

"We believe in you, like really believe in you": Initiating a realist study of (re)engagement initiatives for youth not in employment, education or training with experiences from northern Sweden.

Due to a scarcity of rigorous evaluations and to commence a realist study addressing the lack of knowledge about the workings of interventions directed towards "NEET" youth, this research aimed to understand how and under what circumstances (re)engagement initiatives are expected to facilitate the social integration of young people who are in a situation that prevents them from entering into studies or work. By conducting the first phase in realist evaluation, qualitative interviews with five managerial stakeholders from two northern Swedish initiatives and reviews of documents were carried out for data collection. Using thematic analysis and retroductive reasoning, an intervention-context-actors-mechanisms-outcomes configuration was developed to elicit an initial programme theory that explained how the initiatives were presumed to operate and under what contextual contingencies. The results indicate that the intervention is expected to improve the youths' wellbeing and engage them in work or studies by strengthening their competence and confidence in a caring and collaborative context. To incorporate the diverse voices and heterogeneous experiences of youth themselves, and ascertain whether the intervention works as intended, for whom, in what conditions and why, the results now need to be tested in selected cases and refined in subsequent phases of evaluation research.

Rural-urban differences in suicide attempts and mortality among young people in northern Sweden, 1998-2017: A register-based study.

Aim: The aim of this study was to assess trends in suicide attempts and mortality between 1998 and 2017 by residential area and gender among northern Swedish youths. Methods: Events of suicide attempts and deaths for each municipality in the four counties of the northern Swedish region, stratified by gender, were retrieved for each year from 1998 to 2017. All cases identified within the registers with the diagnostic codes X60-X84 or Y10-Y34 (International Classification of Diseases, 10th revision) for individuals aged 15-24 years were included. Place of residence at municipal level was categorized into three groups: rural - municipalities with a population of <10,000 inhabitants; semi-rural - those between 10,000 and 50,000; and urban - those with >50,000 inhabitants. Results: The rates of attempted suicides in the northern region were higher in both men and women than in Sweden, while the rates of suicide deaths were slightly higher in young men but similar in young women compared to the national averages. Overall, the risk of suicide attempts was higher in semi-rural municipalities compared to urban ones, particularly among women. A significantly higher risk of mortality was also observed for men and women in semi-rural municipalities, but only in the period 2010-2013. Conclusions: The high rates of attempted and completed suicides among youth in northern Sweden and the higher risks in rural and semi-rural municipalities need close attention. The implementation of suicide prevention programs, especially in rural and semi-rural municipalities, should be intensified.

Assessing depressive symptoms with the Borg centiMax Scale® in a Swedish sample of patients and students.

The Borg centiMax Scale, is a psychophysically composed general intensity ratio scale, which could enable more precise inter- and intraindividual comparisons of the intensity of depressive symptoms. In the present study, the properties of the centiMax scale were examined in 38 patients with clinical depression and 109 students. Additionally, preliminary centiMax cut-off scores for mild, moderate and severe depression were estimated. The psychometric properties of the centiMax were found to be satisfactory regarding internal consistency, convergent, discriminative and predictive validity. Moreover, the centiMax was demonstrated to provide meaningful comparisons of symptom intensity, which makes it possible to evaluate the relative importance of individual symptoms in a profile and make more precise comparisons within and between individuals. With regard to intraindividual comparisons, patients rated , for example, the intensity of feeling "guilt" twice as strong as feelings of "being punished," and the intensity of "loss of pleasure" almost three times as strong as "being punished." With regard to interindividual comparisons, patients rated e.g., the intensity of "being punished" as 12 times stronger than controls, and the intensity of "worthlessness" about nine times stronger. In conclusion, the centiMax was shown to be reliable and valid for assessing depressive symptoms. The centiMax with level anchored ratio data, appears to be highly advantageous as it permits rather precise values of symptom intensity for intra- and interindividual comparisons that could be useful in the diagnostic process and in treatment planning.

Widespread and widely widening? Examining absolute socioeconomic health inequalities in northern Sweden across twelve health indicators.

BACKGROUND: Socioeconomic inequalities in health is a widely studied topic. However, epidemiological research tends to focus on one or a few outcomes conditioned on one indicator, overlooking the fact that health inequalities can vary depending on the outcome studied and the indicator used. To bridge this gap, this study aims to provide a comprehensive picture of the patterns of socioeconomic health inequalities in Northern Sweden over time, across a range of health outcomes, using an 'outcome-wide' epidemiological approach. METHOD: Cross-sectional data from three waves of the 'Health on Equal Terms' survey, distributed in 2006, 2010 and 2014 were used. Firstly, socioeconomic inequalities by income and education for twelve outcomes (self-rated health, self-rated dental health, overweight, hypertension, diabetes, long-term illness, stress, depression, psychological distress, smoking, risky alcohol consumption, and physical inactivity) were examined by calculating the Slope Index of Inequality. Secondly, time trends for each outcome and socioeconomic indicator were estimated. RESULTS: Income inequalities increased for psychological distress and physical inactivity in men as well as for self-rated health, overweight, hypertension, long-term illness, and smoking among women. Educational inequalities increased for hypertension, long-term illness, and stress (the latter favouring lower education) in women. The only instance of decreasing income inequalities was seen for long-term illness in men, while education inequalities decreased for long-term illness in men and poor self-rated health, poor self-rated dental health, and smoking in women. CONCLUSION: Patterns of absolute socioeconomic inequalities in health vary by health and socioeconomic indicator, as well as between men and women. Overall, trends appear more stagnant in men while they fluctuate in women. Income inequalities seem to be generally greater than educational inequalities when looking across several different health indicators, a message that can only be derived from this type of outcome-wide study. These disparate findings suggest that generalised and universal statements about the development of health inequalities can be too simplistic and potentially misleading. Nonetheless, despite inequalities being complex, they do exist and tend to increase. Thus, an outcome-wide approach is a valuable method which should be utilised to generate evidence for prioritisations of policy decisions.

Rural-urban differences in health among youth in northern Sweden: an outcome-wide epidemiological approach.

The aim of this research was to contribute knowledge about rural-urban differences in health among young northern Swedish women and men. This study was based on the 2014 "Health on Equal Terms" survey, distributed in the four northernmost counties of Sweden, with complementary information on areas of residence classified as rural, semi-urban and urban from total population registers. The analytical sample included 2,691 individuals who were selected using a probabilistic sampling method. Prevalence ratios were calculated in multivariable log-binomial regression analyses to measure the association between place of residence and nine outcomes covering three health dimensions (general, mental and lifestyle behaviours). The results indicated that daily smoking and being overweight were more common, while feelings of stress and psychological distress were less prevalent, among youths in rural as compared to urban areas. After including covariates, this pattern appeared stronger for young women, although the direction of the results also applied to young men, albeit without revealing significant differences. In conclusion, the findings from this study indicate that for youths - particularly young women - the rural setting may imply an increased risk of poor general health and lifestyle behaviours, while simultaneously playing a partially protective role for mental health.

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Purpose: Retinitis pigmentosa (RP) represents a large group of inherited retinal diseases characterized by clinical and genetic heterogeneity. Among patients with RP in northern Sweden, we identified two severely affected siblings and aimed to reveal a genetic cause underlying their disease. Methods: Whole exome sequencing (WES) was performed on both affected individuals. Sequence variants were filtered using a custom pipeline to find a rare or novel variant predicted to affect protein function. Genome-wide genotyping was used to identify copy number variants (CNVs) and homozygous regions with potential disease causative genes. Results: WES uncovered a novel heterozygous variant in the MER proto-oncogene, tyrosine kinase (MERTK) gene, c.2309A>G, p.Glu770Gly located in the tyrosine kinase domain and predicted to be likely pathogenic. The second variant, a large heterozygous deletion encompassing exons 1 to 7 of the MERTK gene, was revealed with genome-wide genotyping. The CNV analysis suggested breakpoints of the deletion, in the 5'-untranslated region and in intron 7. We identified genomic sequences at the site of the deletion as part of L1ME4b (LINE/L1) and AluSx3 that indicated a non-homologous recombination as a mechanism of the deletion evolvement. Conclusions: Patients with RP in this study were carriers of two novel allelic mutations in the MERTK gene, a missense variant in exon 17 and an approximate 91 kb genomic deletion. Mapping of the deletion breakpoints allowed molecular testing of a cohort of patients with RP with allele-specific PCR. These findings provide additional information about mutations in MERTK for molecular testing of unsolved recessive RP cases and highlight the necessity for analysis of large genomic deletions.