Internal medicine journal
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Internal medicine journal · Dec 2024
Anti-MDA5 positivity: describing the frequency and spectrum of clinically evident MDA5 disease.
To evaluate experience in a tertiary rheumatology service with melanoma differentiation-association-protein-5 (MDA5) disease and testing, patients with positive autoantibody results were reviewed for the presence of clinical disease. Anti-MDA5 positivity was detected in 2% of myositis-specific antibody tests. Of these, 29% did not have features consistent with anti-MDA5 disease. However, when present, MDA5 disease is severe with a high mortality.
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Internal medicine journal · Dec 2024
How doctors can lead the way in their communities: Co-creation, the Indian community and organ donation registration.
Transplant success rates can increase when organs and tissues are matched within ethnic communities, but how well are the processes around organ donation understood by discrete ethnic communities in Australia? We investigated this in relation to one ethnic group, the Australian-Indian community in Sydney. ⋯ The information needed to understand the process of organ donation and registration in Australia is not embedded in this community, highlighting the need for programmes to be tailored to each culturally diverse community rather than culturally diverse communites in general. Doctors and the advisory panels are pivotal in this process.
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The environmental impact of large language models (LLMs) in medicine spans carbon emission, water consumption and rare mineral usage. Prior-generation LLMs, such as GPT-3, already have concerning environmental impacts. Next-generation LLMs, such as GPT-4, are more energy intensive and used frequently, posing potentially significant environmental harms. We propose a five-step pathway for clinical researchers to minimise the environmental impact of the natural language algorithms they create.
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Internal medicine journal · Dec 2024
ReviewPhenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients. ⋯ Chromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.
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Internal medicine journal · Dec 2024
ReviewWhat is the spectrum of kidney pathology associated with COVID-19?
Kidney involvement occurs in almost one third of patients hospitalised with coronavirus disease 2019 (COVID-19) and is associated with increased disease severity. This review aims to outline the spectrum of kidney pathology involved in COVID-19. Literature was reviewed systematically on the databases Medline OVID and Scopus in search of case reports, case series, cohort studies and autopsy studies of patients with COVID-19 who underwent kidney biopsies. ⋯ Collapsing glomerulopathy is the most common glomerular injury and is strongly linked to apolipoprotein L1 genotypes. Improved understanding of COVID-19-related kidney pathologies can guide treatment to improve patient outcomes and reduce progression of chronic kidney disease. The longitudinal impact of COVID-19-related kidney disease requires further research.