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Azathioprine (AZA) is commonly used for many autoimmune disorders; however, the limitation of its clinical use is due to potential toxicities, including severe leukopenia. Recent studies have identified genetic NUDT15 variants strongly associated with AZA-induced leukopenia in Asian patients. This study aimed to investigate the strength of above genetic association and evaluate the usefulness of prospective screening of the NUDT15 variants to prevent AZA-induced leukopenia in Chinese patients. AZA-induced leukopenia in patients with autoimmune disorders were enrolled from multiple medical centers in Taiwan/China between 2012 and 2017 to determine the strength of genetic association of NUDT15 or TPMT variants by whole exome sequencing (WES). Furthermore, a prospective study was conducted between 2018 and 2021 to investigate the incidence of AZA-induced leukopenia with and without genetic screening. The WES result showed the genetic variants of NUDT15 R139C (rs116855232) (P = 3.7 × 10-25 , odds ratio (OR) = 21.7, 95% confidence interval (95% CI) = 12.1-38.8) and NUDT15 rs746071566 (P = 4.2 × 10-9 , OR = 7.1, 95% CI = 3.7-13.7), but not TPMT, were associated with AZA-induced leukopenia and NUDT15 R139C variant shows the highest sensitivity with 92.5%. Furthermore, the targeted screening of 1,013 participants for NUDT15 R139C enabled those identified as carriers to use alternative immunosuppressants. This strategy resulted in a significant decrease in the incidence of AZA-induced leukopenia compared with historical incidence (incidence rate = from 7.6% decreased to 0.4%; P = 9.3 × 10-20 ). In conclusion, the NUDT15 R139C variant was strongly associated with AZA-induced leukopenia in Chinese patients. The genetic screening of NUDT15 R139C followed by use of alternative immunosuppressants in identified carriers effectively decreased the incidence of AZA leukopenia for patients with autoimmune disorders.

This qualitative descriptive study aimed to explore expectations of patients and healthcare experts for an online self-management program for rheumatoid arthritis. Participants were recruited from rheumatology clinics, medical centers, and universities in Taiwan. Individual face-to-face, semi-structured interviews were conducted with patients (n = 16) and healthcare experts (n = 7). Content analysis of the interview data resulted in five subthemes for expectations of an online self-management program: information about how the disease trajectory would impact future health status, availability of opportunities for self-monitoring, opportunities to interact with fellow patients and healthcare providers, simplicity and ease-of-use of the program, and methods to facilitate patient-motivation. These subthemes formulated two overarching themes: content and format. An online self-management program for patients with rheumatoid arthritis should provide evidence-based information about disease variables and behaviors aligned with the specific needs of the individual and adopt strategies that encourage and increase motivation and confidence. [ABSTRACT FROM AUTHOR]

Pulmonary arterial hypertension (PAH) is a rare but severe complication of connective tissue disease (CTD). CTD-associated PAH (CTD-PAH) is the most common subgroup of PAH in East Asia. We prospectively collected 41 patients with CTD-PAH and followed them for a mean period of 43 ± 36 months. The long-term survival rates of the CTD-PAH patients at 1, 2, 3 and 5 years were 90%, 80%, 77%, and 60%, respectively. The non-survivors had more dilated main pulmonary arteries, higher pulmonary artery pressure and pulmonary vascular resistance (PVR). PAH-specific therapy resulted in improvements in functional class, 6-minute walk distance, serum uric acid, right ventricular function and PVR. Increased C-reactive protein during follow-up, indicating inflammatory processes, was also crucial for the management of CTD-PAH. Therefore targeting both PAH and inflammation is important in this specific subgroup of PAH. The results of this study may help develop treatment strategies for CTD-PAH patients., Competing Interests: All the authors declare no conflicts of interest.

Rheumatoid arthritis results in progressive destruction of the joints. However, descriptions of patient's experiences with the disease are limited. This qualitative study aimed to explore patients' personal experiences with rheumatoid arthritis in Taiwan. Face-to-face interviews were conducted with 30 patients from January to May 2019; interview data were analyzed with content analysis. Most participants were female (90%); their mean age was 57 years. Three main categories emerged from analysis of the data: "physical suffering," "limitations of abilities," and "coexisting with the disease." Physical suffering was due to personal lifelong hardships from chronic pain and stiffness. Limitations of abilities occurred from loss of physical function and limited social life, due to participants discomfort with joint deformities and their appearance to others. Participants coexisted with the disease by making changes in their outlook and comparing their lives with others in order to gain a positive perspective.