The Use of Telehealth for Psychological Counselling of Vulnerable Adult Patients With Rheumatic Diseases or Diabetes: Explorative Study Inspired by Participatory Design.

BACKGROUND: Video consultation is increasingly used in different health care settings to reach patients. However, little is known about telehealth in psychological counselling for vulnerable patients with somatic and chronic conditions such as rheumatoid arthritis and diabetes. OBJECTIVE: This study aimed to develop and pilot test a telepsychology module for inclusion in the app My Hospital (Mit Sygehus) to provide remote psychological counselling to vulnerable adults with either rheumatic diseases or diabetes. METHODS: With inspiration from participatory design, the content of the telepsychology module was developed through user involvement and evaluated by individual interviews with patients and psychologists as well as questionnaires. RESULTS: We developed a module with our patient partners that targeted patients with rheumatic diseases and diabetes in relation to the psychological challenges of living with chronic diseases. The module included information, tools, exercises, and videoconferencing. In total, 16 patients and 3 psychologists participated in the pilot test. Psychological counselling was described by 4 themes: "The good relation despite physical distance," "The comfort of being at home," "The pros of saving time on transport and energy," and "A therapeutic alliance at a distance." CONCLUSIONS: Psychological counselling in relation to somatic care can be provided by videoconferencing supported by web-based or mobile delivery of tailored information, tools, and exercises without compromising on the quality of care. To ensure a good alliance between the patient and psychologist, a first face-to-face meeting is important. The home location provided patients with a safe environment and increased accessibility and reduced travel time to the hospital.

Granulomatosis with polyangiitis and cardio vascular co-morbidity in Denmark. A registry-based study of 21 years of follow-up.

OBJECTIVES: To describe the epidemiology of granulomatosis with polyangiitis (GPA) in Denmark. To investigate if cardiovascular (CV) related comorbidity and death were increased among Danish AAV patients registered with a diagnosis of granulomatosis with polyangiitis (GPA) in Denmark. To investigate if there was a temporal relation between diagnosis of GPA and CV disease and death. METHODS: A population-based cohort study was performed using the Danish Civil Registration System, the Danish National Patient Registry and the Danish Cause of Death Register in the period January 1, 1995, to December 31, 2015. Patients registered twice or more with a diagnosis of GPA were included. Annual incidence rate (IR), point prevalence (PP) and standardized mortality rate (SMR) were calculated. The entire adult population in Denmark served as control population. CV morbidity and death caused by CV disease was registered. RESULTS: We identified 1829 individuals with GPA. The median annual IR was 20.5/1,000,000 and PP increased from 64 to 277/1,000,000 in 2015. Overall SMR was 2.14. Among patients with GPA 171 had a hospital diagnosis of acute myocardial infarction (AMI). Compared to the control population, the hazard ratio (HR) of AMI was 2.47 (95% CI 1.24-4.94) during the first 3 months after the GPA diagnosis. From 3 months to one year declining to 1.41 (95%CI 0.80-2.49) and after 10 years the HR was still slightly increased to 1.64 (95%CI 1.20-2.23). The risk of a diagnosis of heart failure (HF) was markedly increased with a HR at 7.22 (95% CI 4.55-11.46) during the first 3 months after a GPA diagnosis, after three months up to one year 2.94 (95%CI 1.87-4.69), and 2.07 (95% CI 1.54-2.78) after 10 years. The total number of CV deaths in the GPA cohort was 307. During the first three months after a GPA diagnosis, the HR was increased to 9.51 (95%CI 7.12-12.70) declining to 2.51 (95% CI 1.77-3.58) after one year, but still increased to 1.56 (95% CI 1.23-1.98) after 10 years. Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation. CONCLUSION: In a population-based study on GPA, we found stable incidence, increasing prevalence and an overall increased SMR. The risk of CV comorbidity and of CV death among patients with a register diagnosis of GPA was increased.

Aquaporin-4-autoimmunity in patients with systemic lupus erythematosus: A predominantly population-based study.

BACKGROUND: Serum immunoglobulin G targeting the astrocyte water channel aquaporin-4 (AQP4) in the central nervous system (CNS) is a biomarker for neuromyelitis optica spectrum disease (NMOSD). Co-existence of NMOSD with systemic lupus erythematosus (SLE) putatively suggests susceptibility to antibody-mediated autoimmune disease. OBJECTIVE: To estimate the prevalence of NMOSD in SLE and investigate the immunogenetic background for an association of NMOSD and SLE. METHODS: The study included a predominantly population-based cohort with clinical and serological investigations of 208 patients with SLE, followed prospectively since 1995. All patients received immunosuppressive treatment. NMOSD was evaluated retrospectively based on the 2015 International Panel for NMOSD Diagnosis (IPND) criteria. Polymorphisms in programmed cell death protein 1 (PDCD-1) PD-1.3 G/A were genotyped. AGP4-IgG and other autoantibodies, including myelin oligodendrocyte glycoprotein (MOG), was determined blinded to clinical diagnosis. RESULTS: Of 208 patients with SLE, 45(22%) had neuropsychiatric (NP) SLE, and CNS involvement predominated in 30 of 45 (67%) patients. Serum AQP4-IgG was detected in 2 of 30 (6.7%) neuropsychiatric SLE (NPSLE) patients both of whom had myelitis and antiphospholipid syndrome; one patient also had myasthenia gravis. None had MOG-IgG. PD-1.3A allele was not associated with SLE nor with NPSLE. CONCLUSION: AQP4-IgG autoimmune syndrome may rarely co-exist with SLE, and such patients have other NMOSD-typical syndromes such as myelitis.

PET-CT findings in patients with polymyalgia rheumatica without symptoms of cranial ischaemia.

INTRODUCTION: Polymyalgia rheumatica (PMR) is an inflammatory disorder that affects the elderly. At present, evidence is limited regarding the usefulness of positron emission tomography-computed tomography (PET-CT) in the diagnosis of PMR. This study aimed to compare patient characteristics and symptoms with PET-CT findings in a Danish population of PMR patients without clinical symptoms of giant cell arteritis. METHODS: The medical records of 50 Danish PET-CT-scanned patients with PMR were reviewed. Symptoms, characteristics and PET-CT findings were registered from the medical records. RESULTS: Fluorodeoxyglucose (FDG) uptake was seen at the shoulders and/or hips of about 80%, and at the spinous processes of about 50% of the patients. Furthermore, 14% of the patients showed no FDG uptake at any of the studied locations. A sensitivity of 79% for PMR was found if there was FDG uptake at any two of the following three locations: the shoulder, the hip and the spinous processes. Vascular FDG uptake was seen in 7% of the patients. No significant correlations between any symptoms and any PET-CT findings were found. C-reactive protein level was significantly lower in patients receiving glucocorticoids, and completely normal scans were seen significantly more often in patients receiving steroid treatment. CONCLUSIONS: PET-CT is a sensitive imaging technique in PMR patients. Symptoms and PET-CT findings do not correlate in PMR. Steroid treatment prior to PET-CT reduces the scan's ability to demonstrate inflammation in PMR patients. FUNDING: none. TRIAL REGISTRATION: not relevant.

18F-fluoro-deoxy-glucose positron emission tomography combined with computed tomography can reliably rule-out infection and cancer in patients with anti-neutrophil cytoplasmic antibody-associated vasculitis suspected of disease relapse.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of autoimmune diseases characterized by systemic inflammation in small- to medium-sized blood vessels. Although immunosuppressive therapy has greatly improved the prognosis for these patients, there are still significant comorbidities, such as cancer and infection, associated with AAV. These comorbidities are often indistinguishable from an underlying AAV disease relapse, and create a clinical conundrum, as these conditions are normally contraindications for immunosuppressive treatment. Thus, it is important to be able to rule out these comorbidities before initiation of immunosuppressive treatment. We examined F-fluoro-deoxy-glucose positron emission tomography combined with computed tomography (FDG-PET/CT)'s value in ruling out cancer or infection in patients with AAV.Data were obtained retrospectively for a clinically based cohort of AAV patients who underwent FDG-PET/CT during 2009 to 2014 owing to a suspicion of cancer, infection, or both cancer and infection indistinguishable from disease relapse. FDG-PET/CT conclusions were compared to the final diagnoses after follow-up analysis (mean 43 months).A total of 19 patients were included who underwent a total of 26 scans. The results of FDG-PET/CT outcome compared to final diagnosis were: 9 true positives, 3 false positives, 13 true negatives, and 1 false negative. The diagnostic probabilities for FDG-PET/CT with respect to overall comorbidity (i.e., cancer or infection) were: sensitivity 90% ( 95% confidence interval [CI] 60%-98%), specificity 81% ( 95% CI 57%-93%), positive predictive value 75% (95% CI 47%-91%), negative predictive value 93% (95% CI 68%-99%), and accuracy 84% (95% CI 66%-94%).FDG-PET/CT had a high negative predictive value and ruled out the comorbidities correctly in all but one case of urinary tract infection, a well-known limitation. Our study showed FGD-PET/CT's promise as an effective tool for ruling out cancer or infection in patients with AAV albeit in a limited population.

Polymyalgia rheumatica and giant cell arteritis-three challenges-consequences of the vasculitis process, osteoporosis, and malignancy: A prospective cohort study protocol.

INTRODUCTION: Polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) are common inflammatory conditions. The diagnosis of PMR/GCA poses many challenges since there are no specific diagnostic tests. Recent literature emphasizes the ability of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) to assess global disease activity in inflammatory diseases. 18F-FDG PET/CT may lead to the diagnosis at an earlier stage than conventional imaging and may also assess response to therapy. With respect to the management of PMR/GCA, there are 3 significant areas of concern as follows: vasculitis process/vascular stiffness, malignancy, and osteoporosis. METHODS AND ANALYSIS: All patients with suspected PMR/GCR referred to the Rheumatology section of Medicine Department at Svendborg Hospital, Denmark. The 4 separate studies in the current protocol focus on: the association of clinical picture of PMR/GCA with PET findings; the validity of 18F-FDG PET/CT scan for diagnosis of PMR/GCA compared with temporal artery biopsy; the prevalence of newly diagnosed malignancies in patients with PMR/GCA, or PMR-like syndrome, with the focus on diagnostic accuracy of 18F-FDG PET/CT scan compared with conventional workup (ie, chest X-ray/abdominal ultrasound); and the impact of disease process, and also steroid treatment on bone mineral density, body composition, and vasculitis/vascular stiffness in PMR/GCA patients. ETHICS AND DISSEMINATION: The study has been approved by the Regional Ethics Committee of the Region of Southern Denmark (identification number: S-20160098) and Danish Data Protection Agency (J.nr 16/40522). Results of the study will be disseminated via publications in peer-reviewed journals, and presentation at national and international conferences.

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.

Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.

OBJECTIVE: To determine whether specific isoforms of IRF5 are transcribed in patients with systemic lupus erythematosus (SLE) who have risk genotypes in the exon 1B donor splice site at single-nucleotide polymorphism (SNP) no. rs2004640. METHODS: Peripheral blood mononuclear cells were obtained from SLE patients and healthy controls from Argentina, Spain, and Germany and from trio families from Spain and Denmark. A reporter assay was used to investigate the role of SNP no. rs2004640. IRF5 expression in relation to the genotypes of functional SNPs was analyzed using quantitative polymerase chain reaction. Sequencing and genotyping of the IRF5 gene was performed. RESULTS: Sequencing of complementary DNA from individuals with different genotypes showed 4 basic isoforms transcribed from all 5'-untranslated regions (5'-UTRs), suggesting no preferential isoform transcription based on rs2004640 genotypes. Analysis of translation efficiency showed that exon 1A was the most efficient in initiating protein synthesis. We identified a novel polymorphic insertion/deletion that defines the pattern of expression of isoforms of IRF5. The insertion consists of 4 repeats in exon 6 affecting the protein interaction domain. The insertion segregates in the risk haplotype with the high expression allele of a poly(A) site SNP no. rs10954213 and the exon 1B donor splice allele of the 5'-UTR SNP no. rs2004640. The poly(A) polymorphism correlated with levels of IRF5 in cells stimulated with interferon-alpha. The SNP most strongly associated with SLE was SNP no. rs2070197 (P=5.2x10(-11)), which is a proxy of the risk haplotype, but does not appear to be functional. CONCLUSION: None of the functional variants investigated in this study is strongly associated with SLE, with the exception of the exon 1B donor splice site, and its functional importance appears to be small. Our results suggest that there may be other functional polymorphisms, yet to be identified, in IRF5. We did not observe evidence of epistatic interaction between the functional SNPs.