Introduction
Psoriatic arthritis (PsA) is a chronic, inflammatory arthritis that affects an estimated 30% of patients with psoriasis. PsA is underdiagnosed in primary care and dermatology clinics due ...to a variety of reasons, including failure of healthcare providers to ask about symptoms, overlap of symptoms and signs with other rheumatologic conditions, and lack of a specific diagnostic test. A delay in PsA diagnosis and treatment, even as short as 6 months, can lead to decreased quality of life, increased joint damage, and worse long-term physical function. In this study, we sought to identify the clinical and genetic factors that help discriminate patients with PsA from those with cutaneous psoriasis only.
Methods
We analyzed a cohort of 974 psoriasis patients at an academic medical center, of whom 175 had confirmed PsA, and performed univariate, multivariate, and predictive modeling to determine factors associated with PsA.
Results
The univariate analysis revealed significant positive associations of PsA with age, nail involvement, scalp involvement, skin fold involvement, elbow/knee involvement, psoriasis severity, plaque subtype, erythrodermic subtype, hypertension, type 2 diabetes, and coronary artery disease, and a significant negative association of PsA with the human leukocyte antigen (HLA)-C*06:02 allele. In the multivariate analysis, nail involvement, type 2 diabetes, and pustular psoriasis remained significantly associated with PsA, while HLA-C*06:02 positivity remained protective. There was a trend towards an association of PsA with older age, younger age of psoriasis onset, and skin fold involvement, while there was protective trend for smoking. A predictive model including both clinical and genetic factors showed reasonable discriminative ability between psoriasis and PsA, with an area under the curve of 0.87 for a receiver operating characteristic curve.
Conclusion
This study identified a number of clinical and genetic features that could help stratify patients who are at higher risk for having PsA and for whom rheumatology referral may be beneficial.
Large population studies of immune system genes are essential for characterizing their role in diseases, including autoimmune conditions. Of key interest are a group of genes encoding the killer cell ...immunoglobulin-like receptors (KIRs), which have known and hypothesized roles in autoimmune diseases, resistance to viruses, reproductive conditions, and cancer. These genes are highly polymorphic, which makes typing expensive and time consuming. Consequently, despite their importance, KIRs have been little studied in large cohorts. Statistical imputation methods developed for other complex loci (e.g., human leukocyte antigen HLA) on the basis of SNP data provide an inexpensive high-throughput alternative to direct laboratory typing of these loci and have enabled important findings and insights for many diseases. We present KIR∗IMP, a method for imputation of KIR copy number. We show that KIR∗IMP is highly accurate and thus allows the study of KIRs in large cohorts and enables detailed investigation of the role of KIRs in human disease.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
BACKGROUND: Cardiac disease requires ongoing active management which may include attendance at formal cardiac rehabilitation (CR) and increased physical activity (PA). However, uptake rates are ...sub-optimal. This study aimed to identify factors associated with attendance at CR and PA in a rural Scottish population. METHODS: A cross-sectional postal survey assessing factors potentially associated with attending CR and participating in PA. Data were also collected from hospital electronic medical records. Binary logistic and ordinal regressions were used to identify barriers and facilitators to participation. RESULTS: The cohort consisted of 840 participants referred to the CR department of a regional Scottish hospital. After applying the inclusion/exclusion criteria, 567 patients were sent a questionnaire. The number of returned questionnaires was 295 (52.0%). Responders were predominantly male (75.9%), with a mean age of 68.7 years. At the multivariate level, the only factor associated with CR attendance was a lack of perceived need (odds ratio OR 0.02, 95% confidence interval CI 0.01–0.06). Analyses of PA associations identified self-efficacy as the only significant facilitator (OR 1.29, 95% CI 1.05–1.59), and a lack of willpower as the only barrier (OR 0.42, 95% CI 0.18–0.97). Other factors were linked to CR attendance and PA at a univariate level only. CONCLUSIONS: This study characterised CR and PA participation, and explored demographic, medical, and psychological factors associated with both activities — with the most important being perceived need, self-efficacy and willpower. These findings may be beneficial in clinical practice by targeting these factors to increase CR attendance and PA levels.
Cardiovascular diseases (CVD) have been shown to be the greatest cause of death worldwide and rates continue to increase. It is recommended that CVD patients attend cardiac rehabilitation (CR) ...following a cardiac event to reduce mortality, improve recovery and positively influence behaviour around CVD risk factors. Despite the recognised benefits and international recommendations for exercise-based CR, uptake and attendance remain suboptimal. A greater understanding of CR barriers and facilitators is required, not least to inform service development. Through understanding current cardiac patients' attitudes and opinions around CR and physical activity (PA) could inform patient-led improvements. Moreover, through understanding aspects of CR and PA that participants like/dislike could provide healthcare providers and policy makers with information around what elements to target in the future.
To investigate participants' attitudes and opinions around CR and PA.
This study employed a cross-sectional survey design on 567 cardiac patients. Cardiac patients who were referred for standard CR classes at a hospital in the Scottish Highlands, from May 2016 to May 2017 were sampled. As part of a larger survey, the current study analysed the free-text responses to 5 open-ended questions included within the wider survey. Questions were related to the participants' experience of CR, reasons for non-attendance, ideas to increase attendance and their opinions on PA. Qualitative data were analysed using a 6-step, reflexive thematic analysis.
Two main topic areas were explored: "Cardiac rehabilitation experience" and "physical activity". Self-efficacy was increased as a result of attending CR due to exercising with similar individuals and the safe environment offered. Barriers ranged from age and health to distance and starting times of the classes which increased travel time and costs. Moreover, responses demonstrated a lack of information and communication around the classes. Respondents highlighted that the provision of more classes and classes being held out with working hours, in addition to a greater variety would increase attendance. In terms of PA, respondents viewed this as different to the CR experience. Responses demonstrated increased freedom when conducting PA with regards to the location, time and type of exercise conducted.
Changes to the structure of CR may prove important in creating long term behaviour change after completing the rehabilitation programme.
Screening for familial and hereditary prostate cancer Lynch, Henry T.; Kosoko‐Lasaki, Omofolasade; Leslie, Stephen W. ...
International journal of cancer,
June 01 2016, 2016-Jun-01, 2016-06-00, 20160601, Volume:
138, Issue:
11
Journal Article
Peer reviewed
Open access
Prostate cancer (PC) has the highest degree of genetic transmission of any form of malignancy. In some families, the hereditary pattern is so strong as to mimic an autosomal dominance trait. We ...reviewed the known predisposing genetic markers to assess possible strategies for screening of families at risk. We carried out a systematic literature search using the Pubmed service of the National Center for Biotechnology Information (NCBI) and several gene libraries, including the NCBI SNP Library, the Online Mendelian Inheritance in Man® Catalog of Human Genes and Genetic Disorders (OMIM) and SNPedia to obtain known gene loci, SNPs and satellite markers associated with PC. We further cross referenced information on identified loci comparing data from different articles and gene reference sites. Whenever possible, we recorded the odds ratio (OR) for the allele associated with PC.
In multiple different linkage studies, many independent PC associated loci have been identified on separate chromosomes. Genome‐wide association studies have added many more markers to the set derived from linkage investigations. A subset of the alleles is associated with early onset and aggressive cancer. Due to the great heterogeneity, the OR for any one allele predicting future development of this malignancy is low. The strongest predictors are the BRCA2 mutations, and the highly penetrant G84E mutation in HOXB13. The presence of multiple risk alleles is more highly predictive than a single allele.
Technical limitations on screening large panels of alleles are being overcome. It is appropriate to begin supplementing prostate specific antigen testing with alleles, such as BRCA2 and HOXB13, disclosed by targeted genomic analysis in families with an unfavorable family cancer history. Future population studies of PC should include genomic sequencing protocols, particularly in families with a history of PC and other malignancies.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Adherence to medication regimens is essential for preventing and reducing adverse outcomes among patients with coronary artery disease (CAD). Greater understanding of the relation between negative ...illness perceptions, beliefs about cardiac rehabilitation (CR) and medication adherence may help inform future approaches to improving medication adherence and quality of life (QoL) outcomes. The aims of the study are: 1) to compare changes in illness perceptions, beliefs about CR, medication adherence and QoL on entry to a CR programme and 6 months later; 2) to examine associations between patients' illness perceptions and beliefs about CR at baseline and medication adherence and QoL at 6 months.
A longitudinal study of 40 patients with CAD recruited from one CR service in Scotland. Patients completed the Medication Adherence Report Scale, Brief Illness Perception Questionnaire, Beliefs about CR questionnaire and the Short-Form 12 Health Survey. Data were analysed using the Wilcoxon Signed Ranks test, Pearson Product Moment correlation and Bayesian multiple logistic regression.
Most patients were men (70%), aged 62.3 mean (SD 7.84) years. Small improvements in 'perceived suitability' of CR at baseline increased the odds of being fully adherent to medication by approximately 60% at 6 months. Being fully adherent at baseline increased the odds of staying so at 6 months by 13.5 times. 'Perceived necessity, concerns for exercise and practical barriers' were negatively associated with reductions in the probability of full medication adherence of 50, 10, and 50%. Small increases in concerns about exercise decreased the odds of better physical health at 6 months by about 50%; and increases in practical barriers decreased the odds of better physical health by about 60%. Patients perceived fewer consequences of their cardiac disease at 6 months.
Patients' beliefs on entry to a CR programme are especially important to medication adherence at 6 months. Negative beliefs about CR should be identified early in CR to counteract any negative effects on QoL. Interventions to improve medication adherence and QoL outcomes should focus on improving patients' negative beliefs about CR and increasing understanding of the role of medication adherence in preventing a future cardiac event.
Digital tools may support people to self-manage their heart failure (HF). Having previously outlined the human-centered design development of a digital tool to support self-care of HF, the next step ...was to pilot the tool over a period of time to establish people's acceptance of it in practice.
This study aims to conduct an observational pilot study to examine the usability, adherence, and feasibility of a digital health tool for HF within the Irish health care system.
A total of 19 participants with HF were provided with a digital tool comprising a mobile app and the Fitbit Charge 4 and Aria Air smart scales for a period of 6 months. Changes to their self-care were assessed before and after the study with the 9-item European HF Self-care Behavior Scale (EHFScBS) and the Minnesota Living with HF Questionnaire (MLwHFQ) using a Wilcoxon signed rank test. After the study, 3 usability questionnaires were implemented and descriptively analyzed: the System Usability Scale (SUS), Wearable Technology Motivation Scale (WTMS), and Comfort Rating Scale (CRS). Participants also undertook a semistructured interview regarding their experiences with the digital tool. Interviews were analyzed deductively using the Theoretical Domains Framework.
Participants wore their devices for an average of 86.2% of the days in the 6-month testing period ranging from 40.6% to 98%. Although improvements in the EHFScBS and MLwHFQ were seen, these changes were not significant (P=.10 and P=.70, respectively, where P>.03, after a Bonferroni correction). SUS results suggest that the usability of this system was not acceptable with a median score of 58.8 (IQR 55.0-60.0; range 45.0-67.5). Participants demonstrated a strong motivation to use the system according to the WTMS (median 6.0, IQR 5.0-7.0; range 1.0-7.0), whereas the Fitbit was considered very comfortable as demonstrated by the low CRS results (median 0.0, IQR 0.0-0.0; range 0.0-2.0). According to participant interviews, the digital tool supported self-management through increased knowledge, improved awareness, decision-making, and confidence in their own data, and improving their social support through a feeling of comfort in being watched.
The digital health tool demonstrated high levels of adherence and acceptance among participants. Although the SUS results suggest low usability, this may be explained by participants uncertainty that they were using it fully, rather than it being unusable, especially given the experiences documented in their interviews. The digital tool targeted key self-management behaviors and feelings of social support. However, a number of changes to the tool, and the health service, are required before it can be implemented at scale. A full-scale feasibility trial conducted at a wider level is required to fully determine its potential effectiveness and wider implementation needs.
Electrode misplacement and interchange errors are known problems when recording the 12‑lead electrocardiogram (ECG). Automatic detection of these errors could play an important role for improving ...clinical decision making and outcomes in cardiac care. The objectives of this systematic review and meta-analysis is to 1) study the impact of electrode misplacement on ECG signals and ECG interpretation, 2) to determine the most challenging electrode misplacements to detect using machine learning (ML), 3) to analyse the ML performance of algorithms that detect electrode misplacement or interchange according to sensitivity and specificity and 4) to identify the most commonly used ML technique for detecting electrode misplacement/interchange. This review analysed the current literature regarding electrode misplacement/interchange recognition accuracy using machine learning techniques.
A search of three online databases including IEEE, PubMed and ScienceDirect identified 228 articles, while 3 articles were included from additional sources from co-authors. According to the eligibility criteria, 14 articles were selected. The selected articles were considered for qualitative analysis and meta-analysis.
The articles showed the effect of lead interchange on ECG morphology and as a consequence on patient diagnoses. Statistical analysis of the included articles found that machine learning performance is high in detecting electrode misplacement/interchange except left arm/left leg interchange.
This review emphasises the importance of detecting electrode misplacement detection in ECG diagnosis and the effects on decision making. Machine learning shows promise in detecting lead misplacement/interchange and highlights an opportunity for developing and operationalising deep learning algorithms such as convolutional neural network (CNN) to detect electrode misplacement/interchange.
•ECGs with electrode misplacement can simulate abnormalities which can lead to significant diagnostic errors.•V2 is the most sensitive misplaced electrode with regards to the change in the signal followed by V3, V4 and V1.•Vertical misplacement of V1 and V2 can show a spurious rSr´ pattern.• LA-LL is the most challenging electrode misplacement/interchange scenario for ML to solve.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Abstract
Aims
Whether a single cardiac troponin measurement can safely rule out myocardial infarction in patients presenting within a few hours of symptom onset is uncertain. The study aim was to ...assess the performance of troponin in early presenters.
Methods and results
In patients with possible myocardial infarction, the diagnostic performance of a single measurement of high-sensitivity cardiac troponin I at presentation was evaluated and externally validated in those tested ≤3, 4–12, and >12 h from symptom onset. The limit-of-detection (2 ng/L), rule-out (5 ng/L), and sex-specific 99th centile (16 ng/L in women; 34 ng/L in men) thresholds were compared. In 41 103 consecutive patients 60 (17) years, 46% women, 12 595 (31%) presented within 3 h, and 3728 (9%) had myocardial infarction. In those presenting ≤3 h, a threshold of 2 ng/L had greater sensitivity and negative predictive value 99.4% (95% confidence interval 99.2%–99.5%) and 99.7% (99.6%–99.8%) compared with 5 ng/L 96.5% (96.2%–96.8%) and 99.3% (99.1%–99.4%). In those presenting ≥3 h, the sensitivity and negative predictive value were similar for both thresholds. The sensitivity of the 99th centile was low in early and late presenters at 71.4% (70.6%–72.2%) and 92.5% (92.0%–93.0%), respectively. Findings were consistent in an external validation cohort of 7088 patients.
Conclusion
In early presenters, a single measurement of high-sensitivity cardiac troponin I below the limit of detection may facilitate the safe rule out of myocardial infarction. The 99th centile should not be used to rule out myocardial infarction at presentation even in those presenting later following symptom onset.
Structured Graphical Abstract
Structured Graphical Abstract
Three panel plot showing the sensitivity (left), negative predictive value (middle) and proportion of patients (right) with cardiac troponin concentrations below 2 ng/L (red), 5 ng/L (blue), and the sex-specific 99th centile (grey) at presentation in patients presenting at or within 3 h of the onset of symptoms of myocardial infarction.
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