Challenging diagnosis of Wilson's disease: A case report.

Wilson's disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson's is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n's disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Burnout in South Asian rheumatologists in the COVID-19 pandemic: an online survey.

Physician burnout is recognized as a global crisis and an epidemic. However, burnout in rheumatology is an understudied phenomenon. We explored the prevalence of physician burnout among rheumatologists from South Asia in the peri-pandemic period (2021-2022). Rheumatologists from Asian countries were invited to participate in an anonymized, validated, and pilot-tested e-survey via social media platforms from December 2021 to April 2022. Demographic information, social aspects (marital status, income, vacation time, daily exercise), substance abuse, EHR (electronic health record) use, and years in practice were obtained. In addition, burnout was estimated using Maslach Burnout Inventory-Human Services Survey for Medical Personnel (MBI-HSS) in three domains: emotional exhaustion (EE), depersonalization (DP), and personal accomplishment (PA), and intergroup comparisons were made using independent t test and one-way ANOVA using SPSS v27. Of 146 respondents who participated in the survey, 134 belonged to Asian nations. The highest number of respondents was from Pakistan (56/134, 38.36%), followed by India (49/134, 33.56%). Slightly more respondents were male, 75 (51.4%), than females, 71 (48.6%). Over two-thirds of our respondents (99/134, 67.8%) reported burnout in at least one domain. Notably, we found statistically significant increased depersonalization scores in males. (P < 0.05). Females scored significantly higher on the following items: #5 (I feel I treat some patients as if they were impersonal objects), item# 10 (I've become more insensitive toward people since I took this job and item#22 (I feel patients blame me for some of their problems) (P < 0.05). We found differences in monthly salaries among South Asian (1484 ± 2717 USD) and non-South Asian respondents (5672 ± 8874 USD) (P < 0.01). A substantial proportion of rheumatologists in our survey report burnout, suggesting a felt need to introduce organizational measures to prevent and mitigate burnout and preserve the rheumatology workforce.

Hughes-Stovin Syndrome: A Case Report on a Rare, Life-Threatening Vasculitis.

Hughes-Stovin Syndrome (HSS) is a rare vasculitic disorder characterised by widespread pulmonary artery aneurysms. It shares some features with Behçet disease. Currently, the diagnosis is based on clinical suspicion. Our case describes a young male who presented with haemoptysis and previous history of pulmonary embolism. Workup was essentially unremarkable, but imaging revealed multiple pulmonary artery aneurysms. Timely initiation of glucocorticoids and immunosuppression with cyclophosphamide led to improvement. High-dose glucocorticoids and immunosuppressants are the mainstays of treatment. Untreated cases can result in fatal outcomes.