RESUMEN
We report a case of a 74-year-old male who presented with typical clinical features of rheumatoid arthritis (RA), as well as elevated markers of inflammation. However, the patient did not respond to multiple RA treatments, and an ultrasound-guided synovial biopsy (UGSB) of the right wrist was performed, which established the diagnosis of amyloidosis. A variety of inflammatory conditions sometimes get misdiagnosed as seronegative RA due to similarities in clinical presentation. This case report highlights the importance of a thorough workup in patients who appear to have seronegative RA. Given the wide availability of ultrasound-guided, minimally invasive synovial biopsies, these procedures should be employed more often to detect rare conditions that may mimic seronegative RA, such as amyloidosis.
RESUMEN
OBJECTIVE: We performed a scoping review of the relevant literature on home-based telehealth in rheumatology to understand its appropriate application in rheumatology practice. METHODS: We searched the Cochrane Library, PubMed, Web of Science, and scientific meeting abstracts to identify articles that specifically addressed telehealth suitability, barriers to telehealth, patient-reported outcomes (PROs) collected in telehealth settings, and telehealth satisfaction. From the initial search of 4,882 studies, 23 reports were included. In addition, 10 abstracts were also eligible for analysis, resulting in a total of 33 articles: 2 randomized clinical trials, 9 prospective cohort studies, and 22 retrospective studies. RESULTS: We found that triage appointments or predictive models could be helpful in selecting patients for telehealth and that telehealth interventions were appropriate for follow-up of patients with systemic lupus erythematosus and inflammatory arthritis, but that conducting new patient visits over telehealth was not ideal. Barriers to telehealth include patient factors (age, technology access) and need for physician/process factors (eg, physical examinations). PROs collected in regular practice can be incorporated into telehealth. Several small, single-center studies suggest that telehealth does not lead to negative outcomes compared with in-person visits, and overall, patients report high patient satisfaction with telehealth. In several scenarios, home-based telehealth was equivalent to in-person visits with regard to patient outcomes and satisfaction. CONCLUSION: The widespread potential of telehealth to manage and deliver care for people with rheumatic disease is significant. As such, further research in the form of randomized controlled trials can help contribute to growing evidence that shapes telehealth implementation for patients with rheumatic diseases.
RESUMEN
Fine mapping and bioinformatic analysis of the DDX6-CXCR5 genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on DDX6 and CXCR5 expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including lnc-PHLDB1-1. Collectively, functional characterization implicated the risk alleles of these SNPs as modulators of promoter and/or enhancer activities that regulate cell type-specific expression of DDX6, CXCR5, and lnc-PHLDB1-1, among others. Further, these findings emphasize the importance of exploring the functional significance of SNPs in the context of complex chromatin architecture in disease-relevant cell types and tissues.