A qualitative investigation of the experiences of patients living with antiphospholipid antibodies.

OBJECTIVE: Substantial morbidity and mortality affect those with antiphospholipid antibodies (aPLs) and antiphospholipid syndrome (APS), yet patient experiences remain poorly understood. This research investigated patient experiences of aPL/APS diagnosis; effects on daily life; and healthcare and treatment. METHODS: Patients aged ≥18 years with APS per the Revised Sapporo criteria or with ≥1 positive aPL on ≥2 occasions were recruited from a Canadian multidisciplinary APS clinic to participate in semi-structured in-depth interviews. Interviews were conducted virtually and transcribed verbatim for subsequent thematic analysis. RESULTS: Twenty-one patients with aPLs/APS participated; 95.2% were female, mean (SD) age was 45.6 (15.0) years. Most (71.4%) had APS, and 71.4% had aPLs/APS with SLE. Results are presented around patient experiences of aPL/APS diagnosis, effects on daily life, and healthcare and treatment. Participants described medical complications/physical symptoms and the healthcare, lifestyle, and emotional impacts experienced around the time of aPLs/APS diagnosis. In addition to the physical and psychosocial impacts of living with aPLs/APS, patients reported modified leisure activities, altered employment trajectories, and positive and negative impacts on relationships. Impacts on family planning were also a critical component of the aPL/APS lived experience; participants shared experiences of miscarriage, other pregnancy complications, and medication-related challenges (e.g., with low-molecular-weight heparin injections). Challenging aspects of aPL/APS healthcare and treatment were also discussed, particularly related to the lifestyle, physical, and emotional burden of medication use. Although a lack of resources was described, participants expressed trust in healthcare providers when making management decisions or when seeking information. Suggestions for resources included the need for additional medication-related information, examples to help contextualize management behaviours, and additional information for those with aPLs/APS without SLE. CONCLUSION: Patients highlighted how the diverse manifestations of aPLs/APS, accentuated by management-related challenges, impose considerable physical and psychosocial burdens. Results will inform the development of patient resources aligned with patient priorities.

Mixed connective tissue disease after thymectomy in refractory myasthenia gravis.

Connective tissue diseases, including systemic lupus erythematosus (SLE) and systemic sclerosis are classic models of autoimmunity; diseases with large-scale loss of tolerance and subsequent development of pathogenic autoreactive lymphocytes and tissue targeting autoantibodies. Here we report a case of mixed connective tissue disease, with features of systemic lupus erythematosus and systemic sclerosis developing in a patient 10 years post thymectomy for myasthenia gravis. The patient developed acute cutaneous lupus, Raynaud's with digital ulcers, arthritis and lymphopenia. Her myasthenia continued to be resistant to treatment and her rheumatic disease progressed despite aggressive therapy. We performed a database search of MEDLINE, EMBASE, Scopus, and Web of Science for articles of similar cases post thymectomy from inception to August 2021, using the terms "systemic lupus erythematosus" (or systemic sclerosis, or connective tissue disease) and "myasthenia gravis" and "thymectomy". We identified 41 cases, 28 of SLE post thymectomy, 8 related to systemic sclerosis, 5 with mixed connective tissue disease and highlighted their different presentation and serology. We explore the role of the thymus, tolerance and myasthenia gravis in the development of connective tissue disease. This highlights the complexity of concurrent autoimmune diseases and their autoantibodies.

Understanding and Managing Corticosteroid-Induced Osteoporosis.

Glucocorticoids are effective immunosuppressants used in a wide variety of diseases. Their use results in secondary osteoporosis in about 30-50% of chronic glucocorticoid users. Glucocorticoids cause a rapid decline in bone strength within the first 3-6 months mostly due to increased bone resorption by osteoclasts. This is followed by a more gradual loss of bone partly due to decreased osteoblastogenesis and osteoblast and osteocyte apoptosis. The loss of bone strength induced by glucocorticoids is not fully captured by bone mineral density measurements. Other tools such as the trabecular bone score and advanced imaging techniques give insight into bone quality; however, these are not used widely in clinical practice. Glucocorticoid-induced osteoporosis should be seen as a widely preventable disease. Currently, only about 15% of chronic glucocorticoid users are receiving optimal care. Glucocorticoids should be prescribed at the lowest dose and shortest duration. All patients should be counselled on lifestyle measures to maintain bone strength including nutrition and weight-bearing exercise. Pharmacological therapy should be considered for all patients at moderate to high risk of fracture as there is evidence for the prevention of bone loss and fractures with a favourable safety profile. Oral bisphosphonates are the current mainstay of therapy, whereas osteoanabolic agents may be considered for those at highest risk of fracture.

Romosozumab in the treatment of osteoporosis.

Osteoporosis is a disease characterized by weakening of the bone architecture, which leads to an increased risk of fracture. There has been interest in the development of osteoanabolic agents that can increase bone mass and reverse the deteriorating architecture of osteoporotic bone. Romosozumab is a new agent for osteoporosis that both promotes bone formation and inhibits bone resorption. It is a monoclonal antibody that inhibits the activity of sclerostin, which allows the Wnt pathway to promote osteoblastogenesis and inhibit the activity of bone-resorbing osteoclasts. In clinical trials, it has proven to be superior to other agents in terms of increasing bone mineral density and reducing the incidence of fractures. This review will highlight the pharmacology, clinical efficacy and safety profile of romosozumab and suggest where this medication may fit within our current management of osteoporosis.

Case Report of Childhood-Onset Psychosis in a Patient with a Known WNT10A Mutation.

OBJECTIVE: To report on a patient with childhood-onset psychosis at age 12 with a known WNT10A mutation. METHODS: Case report. RESULTS: The patient is a 12-year-old male who presented with an acute onset of psychosis in the context of a known WNT10A mutation. CONCLUSION: WNT genes have only been previously linked to schizophrenia on a theoretical basis. To our knowledge, this is the first case report of an association between a childhood-onset psychosis and a WNT10A mutation. We conclude that there is a possibility that WNT10A may be one of the many genes contributing to the development of childhood-onset schizophrenia.

OBJECTIF: Faire rapport sur un patient chez qui la psychose est apparue à 12 ans et qui a une mutation connue du WNT10A. MÉTHODES: Rapport de cas. RÉSULTATS: Le patient est un garçon de 12 ans qui a présenté un début de psychose aiguë dans le contexte d'une mutation connue du gène WNT10A. CONCLUSION: Les gènes WNT n'ont précédemment été liés qu'à la schizophrénie sur une base théorique. À notre connaissance, ceci est le premier rapport de cas d'une association entre une psychose apparue dans l'enfance et une mutation du WNT10A. Nous en concluons qu'il existe une possibilité que le WNT10A soit l'un des nombreux gènes qui contribuent au développement de la schizophrénie apparue dans l'enfance.

Does a Canadian diabetes curriculum work for future physicians in China? Lessons from the Ottawa Shanghai Joint School of Medicine.

BACKGROUND: The Ottawa Shanghai Joint School of Medicine (OSJSM) is a campus of the University of Ottawa Medical School in Shanghai, China. This collaboration allowed us to study whether a Canadian curriculum is suitable for the Chinese population. The aim of this study is to evaluate: 1) The OSJSM diabetes curriculum; and 2) The relevancy of the content for the Chinese population. METHODS: The diabetes curriculum content was evaluated using a curriculum comparison between the University of Ottawa, OSJSM, and the Shanghai Jiao Tong School of Medicine (SJTSM). A literature search compared the diabetes populations in Canada and China. Interviews determined how physicians and patients manage diabetes. RESULTS: The diabetes curriculum at the OSJSM is identical to that of the University of Ottawa. Canada and China have a similar diabetes prevalence, diagnostic criteria, and management. Although both countries utilize the same screening guidelines for diabetes and its complications, patients in Canada are more likely to adhere to these recommendations. CONCLUSION: This study suggests that the diabetes content of the University of Ottawa curriculum remains relevant in China. A greater emphasis on the importance of screening for disease complications in the curriculum may facilitate making this a priority for patients and healthcare providers in China.