368 research outputs found

    Performance of imaging studies in patients with suspected appendicitis after stratification with adult appendicitis score

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    Background: Diagnostic scoring is used to stratify patients with suspected appendicitis into three groups: high, intermediate, and low probability of appendicitis. The stratification can be used for selective imaging to avoid the harms of radiation without compromising diagnostic accuracy. The aim was to study how stratification by Adult Appendicitis Score affects diagnostic performance of imaging studies. Methods: Analysis of 822 patients who underwent diagnostic imaging for suspected appendicitis was made. Adult Appendicitis Score was used to stratify patients into groups of high, intermediate, and low probability of appendicitis. Diagnostic performance of computed tomography (CT) and ultrasound (US) was compared between these patient groups. Results: After scoring, pre-test probability of appendicitis ranged from 9-16% in low probability group to 75-79% in high probability group in patients who underwent US or CT. Post-test probability of appendicitis after positive CT was 99, 91, and 75% in high probability, intermediate probability and low probability groups, respectively, p <0.001. After positive US the respective probabilities were 95, 91 and 42%, p <0.001. Conclusion: Diagnostic imaging has limited value in patients with low probability of appendicitis according to Adult Appendicitis Score.Peer reviewe

    Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

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    In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) Complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy. Here we provide a detailed genetic, clinical, and biochemical description of 13 patients, from nine unrelated families, harboring VARS2 mutations. All patients except one, who manifested with a less severe disease course, presented at birth exhibiting severe encephalomyopathy and cardiomyopathy. Features included hypotonia, psychomotor delay, seizures, feeding difficulty, abnormal cranial MRI, and elevated lactate. The biochemical phenotype comprised a combined Complex I and Complex IV OXPHOS defect in muscle, with patient fibroblasts displaying normal OXPHOS activity. Homology modeling supported the pathogenicity of VARS2 missense variants. The detailed description of this cohort further delineates our understanding of the clinical presentation associated with pathogenic VARS2 variants and we recommend that this gene should be considered in early-onset mitochondrial encephalomyopathies or encephalocardiomyopathies.Peer reviewe

    Advancing environmental sustainability through nature-based science tourism: The potential of universities

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    This review examines the potential of universities to advance environmental sustainability through nature-based science tourism, in which scientists are actively involved in co-creating nature-based tourism experiences. We first justify the review by presenting the current changes facing academia, namely the pressure to increase societal effectiveness, science democratization, and environmental sustainability. Then, we define science tourism and address the role of science and scientists in nature-based tourism. Finally, we evaluate the potential of nature-based science tourism to affect tourists’ environmental knowledge, attitudes and behavior. Based on previous literature, we suggest that universities and scientists, who have the knowledge about environmental sustainability, biodiversity crisis, and climate change, could have a more significant role in providing nature-based tourism experiences and shaping tourists’ attitudes and behavior regarding environmental sustainability. In line with recent discussions on science dissemination, this requires not only providing scientific knowledge to large audiences but also active scientific engagement and interaction with tourists

    BHPR research: qualitative1. Complex reasoning determines patients' perception of outcome following foot surgery in rheumatoid arhtritis

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    Background: Foot surgery is common in patients with RA but research into surgical outcomes is limited and conceptually flawed as current outcome measures lack face validity: to date no one has asked patients what is important to them. This study aimed to determine which factors are important to patients when evaluating the success of foot surgery in RA Methods: Semi structured interviews of RA patients who had undergone foot surgery were conducted and transcribed verbatim. Thematic analysis of interviews was conducted to explore issues that were important to patients. Results: 11 RA patients (9 ♂, mean age 59, dis dur = 22yrs, mean of 3 yrs post op) with mixed experiences of foot surgery were interviewed. Patients interpreted outcome in respect to a multitude of factors, frequently positive change in one aspect contrasted with negative opinions about another. Overall, four major themes emerged. Function: Functional ability & participation in valued activities were very important to patients. Walking ability was a key concern but patients interpreted levels of activity in light of other aspects of their disease, reflecting on change in functional ability more than overall level. Positive feelings of improved mobility were often moderated by negative self perception ("I mean, I still walk like a waddling duck”). Appearance: Appearance was important to almost all patients but perhaps the most complex theme of all. Physical appearance, foot shape, and footwear were closely interlinked, yet patients saw these as distinct separate concepts. Patients need to legitimize these feelings was clear and they frequently entered into a defensive repertoire ("it's not cosmetic surgery; it's something that's more important than that, you know?”). Clinician opinion: Surgeons' post operative evaluation of the procedure was very influential. The impact of this appraisal continued to affect patients' lasting impression irrespective of how the outcome compared to their initial goals ("when he'd done it ... he said that hasn't worked as good as he'd wanted to ... but the pain has gone”). Pain: Whilst pain was important to almost all patients, it appeared to be less important than the other themes. Pain was predominately raised when it influenced other themes, such as function; many still felt the need to legitimize their foot pain in order for health professionals to take it seriously ("in the end I went to my GP because it had happened a few times and I went to an orthopaedic surgeon who was quite dismissive of it, it was like what are you complaining about”). Conclusions: Patients interpret the outcome of foot surgery using a multitude of interrelated factors, particularly functional ability, appearance and surgeons' appraisal of the procedure. While pain was often noted, this appeared less important than other factors in the overall outcome of the surgery. Future research into foot surgery should incorporate the complexity of how patients determine their outcome Disclosure statement: All authors have declared no conflicts of interes

    Predicting glycated hemoglobin levels in the non-diabetic general population:Development and validation of the DIRECT-DETECT prediction model - a DIRECT study

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    AIMS/HYPOTHESIS: To develop a prediction model that can predict HbA1c levels after six years in the non-diabetic general population, including previously used readily available predictors. METHODS: Data from 5,762 initially non-diabetic subjects from three population-based cohorts (Hoorn Study, Inter99, KORA S4/F4) were combined to predict HbA1c levels at six year follow-up. Using backward selection, age, BMI, waist circumference, use of anti-hypertensive medication, current smoking and parental history of diabetes remained in sex-specific linear regression models. To minimize overfitting of coefficients, we performed internal validation using bootstrapping techniques. Explained variance, discrimination and calibration were assessed using R2, classification tables (comparing highest/lowest 50% HbA1c levels) and calibration graphs. The model was externally validated in 2,765 non-diabetic subjects of the population-based cohort METSIM. RESULTS: At baseline, mean HbA1c level was 5.6% (38 mmol/mol). After a mean follow-up of six years, mean HbA1c level was 5.7% (39 mmol/mol). Calibration graphs showed that predicted HbA1c levels were somewhat underestimated in the Inter99 cohort and overestimated in the Hoorn and KORA cohorts, indicating that the model's intercept should be adjusted for each cohort to improve predictions. Sensitivity and specificity (95% CI) were 55.7% (53.9, 57.5) and 56.9% (55.1, 58.7) respectively, for women, and 54.6% (52.7, 56.5) and 54.3% (52.4, 56.2) for men. External validation showed similar performance in the METSIM cohort. CONCLUSIONS/INTERPRETATION: In the non-diabetic population, our DIRECT-DETECT prediction model, including readily available predictors, has a relatively low explained variance and moderate discriminative performance, but can help to distinguish between future highest and lowest HbA1c levels. Absolute HbA1c values are cohort-dependent

    Quantitative proteomic analysis of bronchoalveolar lavage fluid in West Highland white terriers with canine idiopathic pulmonary fibrosis

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    Background Canine idiopathic pulmonary fibrosis (CIPF) is a chronic, progressive, interstitial fibrosing lung disease, manifesting as cough, exercise intolerance and ultimately, dyspnea and respiratory failure. It mainly affects West Highland white terriers (WHWTs), lacks curable treatment and has a poor prognosis. Aspiration of gastroesophageal refluxate may play a role in the development of CIPF. In the first part of this study, we completed label-free quantitative proteomic analysis of bronchoalveolar lavage fluid (BALF) from CIPF and healthy WHWTs. In the second part, we evaluated potential protein markers of reflux aspiration from canine gastric juice and vomitus and whether these were present in BALF from the two groups. Results Across all BALF samples, 417 proteins were identified, and of these, 265 proteins were identified by two or more unique tryptic peptides. Using the 265 high confidence assignments, the quantitative proteome profiles were very similar in the two cohorts, but they could be readily resolved by principal component analysis on the basis of differential protein expression. Of the proteins that were differentially abundant in the two groups, several (including inflammatory and fibrotic markers) were elevated in CIPF, and a smaller, more diverse group of proteins were diminished in CIPF. No protein markers indicative of reflux aspiration were identified. Conclusions Label-free proteomics allowed discrimination between CIPF and healthy WHWTs, consistent with fibrotic process but did not provide clear evidence for gastrointestinal aspiration. The measurement of proteins may provide a proteomics signature of CIPF that could be used to evaluate treatment options.Peer reviewe

    Healthy and Unhealthy Food Consumption in Relation to Quality of Life among Finnish Female Municipal Employees: A Cross-Sectional Study

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    Aspects of good quality of life (QoL) have been found to motivate people to make lifestyle changes. There is also evidence that certain dietary patterns are associated with QoL. The aim of this work was to examine whether consumption frequencies of healthy and unhealthy food items are associated with QoL in female employees. A cross-sectional study was conducted among 631 Finnish female employees (mean age 49 years, SD = 10) from 10 municipal work units in 2015. Information about the participants was collected by physical examination, laboratory tests, self-administered questionnaires, including the Food Frequency Questionnaire (FFQ), and from medical history. QoL was assessed with the EUROHIS-Quality of Life 8-item index. A significant positive association was seen between consumption frequency of healthy foods and the EUROHIS-QOL mean score (p = 0.002). The association was small but comprehensive, also involving most dimensions of QoL. The consumption frequency of unhealthy foods was not associated with QoL. These findings are relevant when designing diet counselling, since QoL is an outcome that has been found to motivate people to change their health habits. Recommending abundant use of healthy foods could be a simple and convenient way of diet counselling at many health care appointments, where time consuming approaches are difficult to conduct
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