Visit Experience and Fulfillment of Care Needs in Primary Care Differs for Video Visits Compared to In-person and Chat Visits.

BACKGROUND: There is a lack of research comparing patient experience and to what extent patients' care needs are fulfilled in telemedicine compared to in-person care. OBJECTIVE: To investigate if patient experience and fulfillment of care needs differ between video and chat visits with direct to consumer telemedicine providers compared to in-person visits. DESIGN: Cross-sectional study. PARTICIPANTS: Adults visiting a primary care physician in person or via chat or video in Region Stockholm, Sweden, October 2020-May 2021. MAIN MEASURES: Patient-reported visit experience and fulfillment of care needs. KEY RESULTS: The sample included 3315 patients who had an in-person (1950), video (844), or chat (521) visit. Response rates were 42% for in-person visitors and 41% for telemedicine visitors. Patients were 18-97 years old, mean age of 51 years, and 66% were female. In-person visitors reported the most positive patient experience ("To a very high degree" or "Yes, completely") for being listened to (64%), being treated with care (64%), and feeling trust and confidence in the health care professional (76%). Chat visitors reported the most positive patient experience for being given enough time (61%) and having care needs fulfilled during the care visit (76%). Video visitors had the largest proportion of respondents choosing "To a very low degree" or "No, not at all" for all visit experience measures. There were statistically significant differences in the distribution of visit experiences between in-person, video, and chat visits for all visit experience measures (P < 0.001). CONCLUSIONS: Video visits were associated with a more negative visit experience and lower fulfillment of care needs than in-person visits. Chat visits were associated with a similar patient experience and fulfillment of care needs as in-person visits. Chat visits may be a viable alternative to in-person visits for selected patients.

Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.

BACKGROUND: In 2020, a novel neurologic disease was observed in juvenile Quarter Horses (QHs) in North America. It was unknown if this was an aberrant manifestation of another previously described neurological disorder in foals, such as equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM). HYPOTHESIS/OBJECTIVES: To describe the clinical findings, outcomes, and postmortem changes with Equine Juvenile Spinocerebellar Ataxia (EJSCA), differentiate the disease from other similar neurological disorders, and determine a mode of inheritance. ANIMALS: Twelve neurologically affected QH foals and the dams. METHODS: Genomic DNA was isolated and pedigrees were manually constructed. RESULTS: All foals (n = 12/12) had a history of acute onset of neurological deficits with no history of trauma. Neurological deficits were characterized by asymmetrical spinal ataxia, with pelvic limbs more severely affected than thoracic limbs. Clinicopathological abnormalities included high serum activity of gamma-glutamyl transferase and hyperglycemia. All foals became recumbent (median, 3 days: [0-18 days]), which necessitated humane euthanasia (n = 11/12, 92%; the remaining case was found dead). Histological evaluation at postmortem revealed dilated myelin sheaths and digestion chambers within the spinal cord, most prominently in the dorsal spinocerebellar tracts. Pedigree analysis revealed a likely autosomal recessive mode of inheritance. CONCLUSIONS AND CLINICAL IMPORTANCE: EJSCA is a uniformly fatal, rapidly progressive, likely autosomal recessive neurological disease of QHs <1 month of age in North America that is etiologically distinct from other clinically similar neurological disorders. Once the causative variant for EJSCA is validated, carriers can be identified through genetic testing to inform breeding decisions.

Individual Patient Factors Associated with the Use of Physical or Digital Primary Care in Sweden.

Introduction: Little is known about factors that influence patients' choice to use physical or digital primary care. This study aimed to compare self-rated health, internet habits, and what patients deem important when choosing health care between users of physical and digital primary health care. Methods: We recruited 2,716 adults visiting one of six physical or four digital primary health care providers in Stockholm, Sweden, October 2020 to May 2021. Participants answered a questionnaire with questions about sociodemography, self-rated health, internet habits, and what they considered important when seeking care. We used logistic regression and estimated odds ratios (ORs) for choosing digital care. Results: Digital users considered themselves healthier and used the internet more, compared with physical users (p < 0.001). Competence of health care staff was the most important factor when seeking care to both physical and digital users (90% and 78%, respectively). Patients considering it important to avoid leaving home were more likely to seek digital care (OR 29.55, 95% confidence interval [CI] 12.65-69.06), while patients valuing continuity were more likely to seek physical care (OR 0.25, 95% CI 0.19-0.32). These factors were significant also when adjusting for self-rated health and sociodemographic characteristics. Conclusion: What patients considered important when seeking health care was associated with what type of care they sought. Patient preferences should be considered when planning health care to optimize resource allocation.

Composition of thrombi in zebrafish: similarities and distinctions with mammals.

BACKGROUND: Blood clots are primarily composed of red blood cells (RBCs), platelets/thrombocytes, and fibrin. Despite the similarities observed between mammals and zebrafish, the composition of fish thrombi is not as well known. OBJECTIVES: To analyze the formation of zebrafish blood clots ex vivo and arterial and venous thrombi in vivo. METHODS: Transgenic zebrafish lines and laser-mediated endothelial injury were used to determine the relative ratio of RBCs and thrombocytes in clots. Scanning electron and confocal microscopy provided high-resolution images of the structure of adult and larval clots. Adult and larval thrombocyte spreading on fibrinogen was evaluated ex vivo. RESULTS: RBCs were present in arterial and venous thrombi, making up the majority of cells in both circulations. However, bloodless mutant fish demonstrated that fibrin clots can form in vivo in the absence of blood cells. Scanning electron and confocal microscopy showed that larval and adult zebrafish thrombi and mammalian thrombi look surprisingly similar externally and internally, even though the former have nucleated RBCs and thrombocytes. Although adult thrombocytes spread on fibrinogen, we found that larval cells do not fully activate without the addition of plasma from adult fish, suggesting a developmental deficiency of a plasma activating factor. Finally, mutants lacking αIIbß3 demonstrated that this integrin mediates thrombocyte spreading on fibrinogen. CONCLUSION: Our data showed strong conservation of arterial and venous and clot/thrombus formation across species, including developmental regulation of thrombocyte function. This correlation supports the possibility that mammals also do not absolutely require circulating cells to form fibrin clots in vivo.

Patients with cluster headache show signs of insomnia and sleep related stress: results from an actigraphy and self-assessed sleep study.

BACKGROUND: Cluster headache (CH) is a primary headache disorder which is characterized by circadian timing of headache attacks, usually at nighttime, in around two thirds of patients. Patients with CH often report sleep difficulties, though it is unknown whether this is a cause or a consequence of nightly headache attacks. OBJECTIVE: In this case-control study we have assessed sleep quality in study participants with CH in cluster bout respectively in remission, compared to a control group of neurologically healthy individuals to investigate the potential connection between sleep and CH. METHODS: Fifty study participants with CH and 42 controls were recruited for sleep assessment. Sleep was recorded using MotionWatch 8 actigraphs (CamNTech) for a period of two weeks. Study participants were instructed to wear the unit during rest and sleep and to fill out a sleep diary daily through the two-weeks period. RESULTS: Results from actigraphy recordings and sleep diaries suggested that patients with CH spend longer time in bed than controls (CH 8.1 hours vs. Controls 7.7 hours, p=0.03), but do not sleep more than controls (CH 6.7 hours vs. controls 6.5 hours, p=0.3). In addition, CH patients reported increased sleep latency (p=0.003), particularly during, but not restricted to, cluster bouts. Study participants with CH further reported higher levels of stress at bedtime (p=0.01), and they felt less well rested than controls (p=0.001). CONCLUSION: Our analysis suggests that sleep is negatively affected in CH both in cluster bout and in remission, manifesting in symptoms consistent with insomnia such as prolonged sleep latency and increased time in bed.

Functional annotation of the animal genomes: An integrated annotation resource for the horse.

The genomic sequence of the horse has been available since 2009, providing critical resources for discovering important genomic variants regarding both animal health and population structures. However, to fully understand the functional implications of these variants, detailed annotation of the horse genome is required. Due to the limited availability of functional data for the equine genome, as well as the technical limitations of short-read RNA-seq, existing annotation of the equine genome contains limited information about important aspects of gene regulation, such as alternate isoforms and regulatory elements, which are either not transcribed or transcribed at a very low level. To solve above problems, the Functional Annotation of the Animal Genomes (FAANG) project proposed a systemic approach to tissue collection, phenotyping, and data generation, adopting the blueprint laid out by the Encyclopedia of DNA Elements (ENCODE) project. Here we detail the first comprehensive overview of gene expression and regulation in the horse, presenting 39,625 novel transcripts, 84,613 candidate cis-regulatory elements (CRE) and their target genes, 332,115 open chromatin regions genome wide across a diverse set of tissues. We showed substantial concordance between chromatin accessibility, chromatin states in different genic features and gene expression. This comprehensive and expanded set of genomics resources will provide the equine research community ample opportunities for studies of complex traits in the horse.

Dietary habits after a physical activity mHealth intervention: a randomized controlled trial.

BACKGROUND: A healthy diet and a sufficient amount of physical activity are important factors to reduce complications of type 2 diabetes. Diet and physical activity are associated behaviours. Individuals who are physically active have also been shown to have healthier eating habits than sedentary individuals. We aimed to evaluate the indirect effect of a smartphone-based physical activity intervention on dietary habits in patients with type 2 diabetes. METHODS: We performed analyses of secondary outcomes in a randomized controlled trial. The active intervention was use of a smartphone application to promote physical activity during 12 weeks. Dietary intake was assessed at baseline and after three months using a validated semi-quantitative food frequency questionnaire comprising 94 items. We analysed changes in the intake of fruit and vegetables, snacks, fibre, whole grains, vitamin C, saturated fat, unsaturated fat and total energy. We also assessed overall dietary habits using a dietary index developed by the Swedish National Board of Health and Welfare. Results were compared between the intervention and control group, as well as stratified by sex within the study groups. Paired t-tests and analysis of covariance were performed. RESULTS: A total of 181 patients were recruited to the DiaCert-study, whereof 146 patients had complete dietary data and were included in the analyses. Women in the intervention group had a higher fruit and vegetable intake (p = 0.008) and a higher dietary index (p = 0.007), at three-months compared to women in the control group. They had increased their daily intake of fruit and vegetables by on average 87.4 g/day (p = 0.04) and improved their dietary index by on average 0.8 points (p = 0.01) from baseline to follow-up. No effect was found in men. CONCLUSIONS: Women, but not men, receiving a smartphone-based physical activity intervention improved their total intake of fruit and vegetables. The transfer effect, i.e. an intervention aimed at promoting one health behavior that facilitates changes in other health behaviors, may differ between the sexes. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03053336; 15/02/2017.

Pros and cons of quick returns-a cross-sectional survey among Swedish nurses and nurse assistants.

Short rest (<11h) between evening and day shifts-known as quick returns (QRs)-impede recovery and may impair health. Nevertheless, QRs remain popular among some shift workers. This study explores nurses' and nurse assistants' perceptions of the merits and demerits of QRs from individual and organizational perspectives. Participants were recruited from eleven wards at two Swedish hospitals as part of a larger quasi-experimental intervention study. The majority (79%) had influence over their work schedules. Frequency distributions of responses are presented. Ninety six undertook a baseline survey regarding recovery, tolerance and work performance in relation to QRs. A majority experienced difficulties unwinding before bedtime (76%), insufficient sleep (80%), and daytime fatigue (72%). A third experienced an increased risk of errors and mistakes. However, QRs appeared to facilitate taking reports from patients and planning work, as this task was more often rated as 'very easy' following a QR compared to other shift combinations. Tolerance of QRs varied substantially. In conclusion, QRs seem to benefit continuity in work processes, but may do so at the expense of recovery and safety. Wards planning to reduce QRs-through participatory or fixed schedule models-should consider impacts on work processes.

Does eating behaviour among adolescents and young adults seeking obesity treatment differ depending on sex, body composition, and parental country of birth?

BACKGROUND: Adolescents and young adults around the world experience high rates of weight gain. The underlying eating behaviours that may lead to overconsumption of energy are complex and can depend on a number of factors. The aim of this study was to explore if eating behaviour among adolescents and young adults referred to specialized obesity treatment differed depending on sex, body composition, and parental country of birth. METHODS: Adolescents and young adults aged 16-25 years, referred for obesity treatment in 2018-2021 were included in the study. Eating behaviour was assessed using the Three Factor Eating Questionnaire, comprising domains of uncontrolled-, emotional- and cognitive restraint eating. Student's t-test was used to compare differences in eating behaviour scores between males and females, and between those having at least one parent born in a Nordic country and those with both parents born outside the Nordic countries. Associations between BMI, waist circumference, and body fat percentage, and eating behaviour as the dependent variable, were examined using linear regression. RESULTS: A total of 463 participants, mean age 21 years and mean BMI 41.3 kg/m2, were included in the analysis. Females scored statistically significantly higher than males on emotional eating (45.8 vs. 35.4, p = 0.002) and cognitive restraint eating (45.4 vs. 39.2, p = 0.009). Participants with at least one parent born in a Nordic country reported a statistically significantly lower score of uncontrolled eating (45.7 vs. 51.3, p = 0.02) compared to participants with both parents born outside the Nordic countries. Further, there were statistically significant inverse associations between cognitive restraint eating scores and BMI (ß=-0.64, 95%CI: -0.97 to -0.31), waist circumference (ß=-0.44, 95%CI: -0.61 to -0.27) and body fat percentage (ß=-0.57, 95%CI: -1.01 to -0.14) in models adjusted for age, sex, smoking, and civil status. CONCLUSION: Our findings suggest that sex and parental country of birth may influence eating behaviours among adolescents and young adults referred for specialist obesity treatment. We also found that cognitive restraint eating decreased with increasing BMI, waist circumference, and body fat percentage. This indicates that there may be an inverse association between the ability to restrain oneself from eating and gaining weight, however, the direction of the association must be investigated further. Increased knowledge about eating behaviours may be valuable in the clinical setting.

Randomised control trial of a proactive intervention supporting recovery in relation to stress and irregular work hours: effects on sleep, burn-out, fatigue and somatic symptoms.

OBJECTIVES: To examine if a proactive recovery intervention for newly graduated registered nurses (RNs) could prevent the development of sleep problems, burn-out, fatigue or somatic symptoms. METHODS: The study was a randomised control trial with parallel design. Newly graduated RNs with less than 12 months' work experience were eligible to participate. 461 RNs from 8 hospitals in Sweden were invited, of which 207 signed up. These were randomised to either intervention or control groups. After adjustments, 99 RNs were included in the intervention group (mean age 27.5 years, 84.7% women) and 108 in the control group (mean age 27.0 years, 90.7% women). 82 RNs in the intervention group attended a group-administered recovery programme, involving three group sessions with 2 weeks between each session, focusing on proactive strategies for sleep and recovery in relation to work stress and shift work. Effects on sleep, burn-out, fatigue and somatic symptoms were measured by questionnaires at baseline, postintervention and at 6 months follow-up. RESULTS: Preventive effect was seen on somatic symptoms for the intervention group. Also, the intervention group showed less burn-out and fatigue symptoms at postintervention. However, these latter effects did not persist at follow-up. Participants used many of the strategies from the programme. CONCLUSIONS: A proactive, group-administered recovery programme could be helpful in strengthening recovery and preventing negative health consequences for newly graduated RNs. TRIAL REGISTRATION NUMBER: NCT04246736.

Transcriptomic Markers of Recombinant Human Erythropoietin Micro-Dosing in Thoroughbred Horses.

Recombinant human erythropoietin (rHuEPO) is a well-known performance enhancing drug in human athletes, and there is anecdotal evidence of it being used in horse racing for the same purpose. rHuEPO, like endogenous EPO, increases arterial oxygen content and thus aerobic power. Micro-doping, or injecting smaller doses over a longer period of time, has become an important concern in both human and equine athletics since it is more difficult to detect. Horses offer an additional challenge of a contractile spleen, thus large changes in the red blood cell mass occur naturally. To address the challenge of detecting rHuEPO doping in horse racing, we determined the transcriptomic effects of rHuEPO micro-dosing over seven weeks in exercised Thoroughbreds. RNA-sequencing of peripheral blood mononuclear cells isolated at several time points throughout the study identified three transcripts (C13H16orf54, PUM2 and CHTOP) that were significantly (PFDR < 0.05) different between the treatment groups across two or three time point comparisons. PUM2 and CHTOP play a role in erythropoiesis while not much is known about C13H16orf54, but it is primarily expressed in whole blood. However, gene expression differences were not large enough to detect via RT-qPCR, thereby precluding their utility as biomarkers of micro-doping.

Screen time and physical activity in children and adolescents aged 10-15 years.

BACKGROUND: Previous research studies have demonstrated a relationship between low levels of physical activity and high amounts of screen time in children and adolescents. However, this is usually based on self-reported data. Therefore, the aim of this cross-sectional study was to investigate the association between objectively measured smartphone screen time and physical activity among children and adolescents aged 10-15 years. METHODS: During seven consecutive days, we objectively assessed smartphone screen time, using the SCRIIN smartphone application, and physical activity, using the SCRIIN activity tracker, in children and adolescents recruited from two schools in Stockholm County, Sweden. Moreover, the children/adolescents and their parents responded to a questionnaire, obtaining among other things: self-reported screen time, physical activity, sleep and health-related quality of life. RESULTS: A total of 121 children and adolescents (mean age: 12.1 ± 1.5) were included in the study. Objectively measured smartphone screen time was 161.2 ± 81.1 min/day. Mean physical activity, measured with the SCRIIN activity tracker, was 32.6 ± 16.5 active min/day. Minutes of screen time and physical activity did not differ between the children and adolescents from the two schools, despite located in different socioeconomic areas. Further, we found no association between smartphone screen time and physical activity. However, girls aged 14-15 years, had more smartphone screen time (p<0.01) and were significantly more physically active (p<0.01) than girls aged 10-12 years. In addition, boys reported more than five times more time spent on computer and video games than girls did. CONCLUSION: Smartphone screen time was not associated with physical activity level among children and adolescents aged 10-15 years.

Increased α-tocopherol metabolism in horses with equine neuroaxonal dystrophy.

BACKGROUND: Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder associated with a vitamin E deficiency within the first year of life. Vitamin E consists of 8 isoforms metabolized by the CYP4F2 enzyme. No antemortem diagnostic test currently exists for eNAD/EDM. HYPOTHESIS/OBJECTIVES: Based on the association of α-tocopherol deficiency with the development of eNAD/EDM, we hypothesized that the rate of α-tocopherol, but not γ-tocopherol or tocotrienol metabolism, would be increased in eNAD/EDM-affected horses. ANIMALS: Vitamin E metabolism: Proof of concept (POC) study; eNAD/EDM-affected (n = 5) and control (n = 6) horses. Validation study: eNAD/EDM-affected Quarter Horses (QHs; n = 6), cervical vertebral compressive myelopathy affected (n = 6) horses and control (n = 29) horses. CYP4F2 expression and copy number: eNAD/EDM-affected (n = 12) and age- and sex-matched control (n = 11-12) horses. METHODS: The rates of α-tocopherol/tocotrienol and γ-tocopherol/tocotrienol metabolism were assessed in equine serum (POC and validation) and urine (POC only) using liquid chromatography tandem mass spectrometry (LC-MS/MS). Quantitative reverse-transcriptase PCR (qRT-PCR) and droplet digital (dd)-PCR were used to assay expression and genomic copy number of a CYP4F2 equine ortholog. RESULTS: Metabolic rate of α-tocopherol was increased in eNAD/EDM horses (POC,P < .0001; validation, P = .03), with no difference in the metabolic rate of γ-tocopherol. Horses with eNAD/EDM had increased expression of the CYP4F2 equine orthologue (P = .02) but no differences in copy number. CONCLUSIONS AND CLINICAL IMPORTANCE: Increased α-tocopherol metabolism in eNAD/EDM-affected QHs provides novel insight into alterations in vitamin E processing in eNAD/EDM and highlights the need for high-dose supplementation to prevent the clinical phenotype in genetically susceptible horses.

Psychosocial working conditions of shiftworking nurses: A long-term latent transition analysis.

AIM: This study aimed to identify profiles of working conditions to which nurses were exposed to over time and investigate how changes in working conditions relate to shiftworking and health. BACKGROUND: Previous studies rarely addressed the issue of working conditions development over long periods and the effects of such development on nurses' health. METHODS: Data from a national cohort of nurses in Sweden (N = 2936) were analysed using a person-centred analytical approach-latent profile and latent transition analysis. RESULTS: Nurses report better psychosocial working conditions as they progress into mid-career. Shiftworking nurses experience poorer working conditions than their dayworking counterparts and tend to move from shiftwork to daywork as they progress into mid-career. In mid-career, nurses in work environments characterized by low autonomy and support tend to report poorer health outcomes. CONCLUSION: Current analyses suggest that shiftworking nurses are particularly in need of interventions that address poor work environments. Not only do they experience more negative psychosocial working conditions than their dayworking counterparts, but they do so while having to contend with demanding schedules. IMPLICATIONS FOR NURSING MANAGEMENT: The findings highlight that organisational interventions should target different aspects of the work environment for nurses in diverse stages of their careers.

Intensive longitudinal study of newly graduated nurses' quick returns and self-rated stress.

OBJECTIVE: Little is known about the relationship between quick returns (QR) - shift combinations that result in inter-shift rest periods <11 hours) and stress. The current study examined whether variations in the frequency of QR, both between and within individuals, were associated with changes in self-rated stress. METHODS: A questionnaire was sent weekly to newly graduated nurses during the first 12 weeks of work. Stress was measured with four items from the Stress-Energy Questionnaire on a scale from 1 "not at all" to 5 "very much" [mean 2.65, standard deviation (SD) 1.08]. Shifts worked in the past week were reported and QR were identified by evening-morning shift combinations (mean 0.98, SD 0.90 per week). In total, 350 persons were included in the analysis (3556 observations). Data were analyzed with a multilevel residual dynamic structural equation model (RDSEM) using Bayesian estimation procedures. RESULTS: There was no between-person effect of QR on stress averaged across measurement occasions (0.181, 95% CI -0.060-0.415). However, there was a small within-person effect of QR (0.031, 95% CI 0.001-0.062), meaning that more QR during a given week, compared to that person's average, was associated with an increase in their level of stress during that week. CONCLUSIONS: Nurses were likely to report increased stress during weeks in which they worked more QR. Intervention studies are needed to determine whether the relationship is causal.

Generation of a Biobank From Two Adult Thoroughbred Stallions for the Functional Annotation of Animal Genomes Initiative.

Following the successful creation of a biobank from two adult Thoroughbred mares, this study aimed to recapitulate sample collection in two adult Thoroughbred stallions as part of the Functional Annotation of the Animal Genome (FAANG) initiative. Both stallions underwent thorough physical, lameness, neurologic, and ophthalmic (including electroretinography) examinations prior to humane euthanasia. Epididymal sperm was recovered from both stallions immediately postmortem and cryopreserved. Aseptically collected full thickness skin biopsies were used to isolate, culture and cryopreserve dermal fibroblasts. Serum, plasma, cerebrospinal fluid, urine, and gastrointestinal content from various locations were collected and cryopreserved. Under guidance of a board-certified veterinary anatomic pathologist, 102 representative tissue samples were collected from both horses. Whole tissue samples were flash-frozen and prioritized tissues had nuclei isolated and cryopreserved. Spatially contemporaneous samples of each tissue were submitted for histologic examination. Antemortem and gross pathologic examination revealed mild abnormalities in both stallions. One stallion (ECA_UCD_AH3) had unilateral thoracic limb lameness and bilateral chorioretinal scars. The second stallion (ECA_UCD_AH4) had subtle symmetrical pelvic limb ataxia, symmetrical prostatomegally, and moderate gastrointestinal nematodiasis. DNA from each was whole-genome sequenced and genotyped using the GGP Equine 70K SNP array. The genomic resources and banked biological samples from these animals augments the existing resource available to the equine genomics community. Importantly we may now improve the resolution of tissue-specific gene regulation as affected by sex, as well as add sex-specific tissues and gametes.

Genetics of equine bleeding disorders.

Genetic bleeding disorders can have a profound impact on a horse's health and athletic career. As such, it is important to understand the mechanisms of these diseases and how they are diagnosed. These diseases include haemophilia A, von Willebrand disease, prekallikrein deficiency, Glanzmann's Thrombasthenia and Atypical Equine Thrombasthenia. Exercise-induced pulmonary haemorrhage also has a proposed genetic component. Genetic mutations have been identified for haemophilia A and Glanzmann's Thrombasthenia in the horse. Mutations are known for von Willebrand disease and prekallikrein deficiency in other species. In the absence of genetic tests, bleeding disorders are typically diagnosed by measuring platelet function, von Willebrand factor, and other coagulation protein levels and activities. For autosomal recessive diseases, genetic testing can prevent the breeding of two carriers.

Consequences of early career nurse burnout: A prospective long-term follow-up on cognitive functions, depressive symptoms, and insomnia.

BACKGROUND: Burnout is common among nurses and midwives. We examined whether an early career episode of burnout has long-term consequences on; a) cognitive functions, b) symptoms of depression, and/or c) insomnia for nurses a decade after graduation. METHODS: Symptoms of burnout were investigated in an observational longitudinal study of three national cohorts of registered nurses (RNs). Nursing students were recruited from all 26 of Sweden's nursing programs. Burnout was subsequently measured through annual assessment over the first three years post graduation, with one long-term follow-up 11-15 years after graduation. A total of 2474 nurses (62%) consented to participate at follow-up. Burnout was measured using items from the Oldenburg Burnout Inventory, cognitive function by a study specific instrument, depressive symptoms by the Major Depression Inventory, and sleep problems using items from the Karolinska Sleep Questionnaire. We used logistic regression to identify factors associated with consequences of early career burnout, adjusting for concurrent levels at follow up. FINDINGS: The prevalence of nurses reporting high levels of burnout symptoms at least one of the first three years of working life was 299 (12·3%). High levels of burnout symptoms in early working life were significantly related to more frequent symptoms of cognitive dysfunction, depression, and impaired sleep a decade later when taking current burnout levels into account. After controlling for both current symptoms of burnout and the other outcome variables, nurses with early career burnout still reported more frequent problems with cognitive functions and sleep but not depression. INTERPRETATION: The results of this study show that the detrimental processes caused by overwhelming or chronic stress start early on in nurses' careers and thus preventive efforts should preferably be introduced early on (e.g. as part of nursing education and onboarding programs). FUNDING: AFA Insurance Grant [number 150284].

Digital Support for Healthier Eating Habits Among Patients With Type 2 Diabetes: Protocol for a Randomized Clinical Trial Within Primary Care (HAPPY Trial).

BACKGROUND: Despite the large impact that dietary habits have in the management of diabetes, few tools for supporting healthy eating habits are available for persons with diabetes. OBJECTIVE: The aim of this randomized clinical trial is to evaluate the effect of a 12-week, mobile health (mHealth), app-based intervention promoting healthy eating habits among patients with type 2 diabetes. METHODS: The HAPPY (Healthy eating using APP technologY) trial is a randomized clinical trial with two arms aiming to include 200 patients, 18 years of age or older, with type 2 diabetes. Both women and men are eligible for inclusion. Study participants are randomized 1:1 to an intervention group, where they are instructed to use a smartphone app promoting healthy eating, or to a control group, where they receive standard primary care only, for a period of 12 weeks. Each week a new topic (eg, vegetable intake) is introduced via the app. After an introduction text, the user is given a topic-related activity to perform (eg, eat one additional serving of vegetables per day during that week). The app records daily progress and sends automatic reminders or feedback to the user. Dietary intake, body composition, clinical variables, and biomarkers are measured at baseline and at 3- and 6-month follow-ups. An extensive web-based questionnaire comprising several validated questionnaires assessing a number of lifestyle factors is distributed via email at baseline and at 3-, 6-, and 12-month follow-ups; lifestyle factors include, for example, sleep, physical activity, eating behavior, and health-related quality of life. The effect of the intervention on dietary intake (primary outcome) and on glycated hemoglobin and blood lipid levels, body composition, blood pressure, other lifestyle factors, and overall health (secondary outcomes) will be assessed. RESULTS: Data collection is ongoing. Recruitment of participants started in January 2019. Findings from the study are expected to be published by the end of 2021. CONCLUSIONS: Technology development provides new ways to promote and support long-term adherence to healthier eating habits. mHealth-based approaches allow for real-time interaction and the delivery of an intervention at any time. Further, focusing on overall diet allows the user to apply new knowledge to current eating patterns, creating an individualized approach. In this study, we evaluate the effect of using a new smartphone app promoting healthy eating habits on dietary intake, clinical markers, and lifestyle factors among patients with type 2 diabetes. TRIAL REGISTRATION: ClinicalTrials.gov NCT03784612; https://clinicaltrials.gov/ct2/show/NCT03784612. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/24422.

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.

Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a genetic investigation on two affected TB foals. Familial hypoparathyroidism was identified, and pedigree analysis suggested an autosomal recessive (AR) mode of inheritance. We performed whole-genome sequencing of the two foals, their unaffected dams and four unaffected, unrelated TB horses. Both homozygosity mapping and an association analysis were used to prioritize potential genetic variants. Of the 2,808 variants that significantly associated with the phenotype using an AR mode of inheritance (P<0.02) and located within a region of homozygosity, 1,507 (54%) were located in a 9.7 Mb region on chr4 (44.9-54.6 Mb). Within this region, a nonsense variant (RAPGEF5 c.2624C>A,p.Ser875*) was significantly associated with the hypoparathyroid phenotype (Pallelic = 0.008). Affected foals were homozygous for the variant, with two additional affected foals subsequently confirmed in 2019. Necropsies of all affected foals failed to identify any histologically normal parathyroid glands. Because the nonsense mutation in RAPGEF5 was near the C-terminal end of the protein, the impact on protein function was unclear. Therefore, we tested the variant in our Xenopus overexpression model and demonstrated RAPGEF5 loss-of-function. This RAPGEF5 variant represents the first genetic variant for hypoparathyroidism identified in any domestic animal species.