Internal medicine journal
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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
ReviewA review and recommendations on the management of psoriatic arthritis in Australia 2024.
Psoriatic arthritis (PsA) is a progressive, systemic inflammatory disease. It can lead to serious joint damage and disability, increased cardiovascular risk and reduced quality of life. Six experts met to develop the recommendations for the management of PsA in Australia. ⋯ Management and treatment recommendations have been made under six subheadings: Recommendations for non-steroidal anti-inflammatory drugs and glucocorticoids; Disease-modifying treatment; Screening and monitoring; Family planning; Symptom treatment and extra-articular manifestations; Comorbidities and lifestyle considerations. Our recommendations for the management of PsA in Australia draw heavily on the established global guidelines. These recommendations aim to assist clinicians to make informed, patient-centric choices when delivering treatment to people with PsA.
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Internal medicine journal · Nov 2024
Review Practice GuidelineAdult penicillin allergy programmes in Australian hospitals: a practical guide from the National Antibiotic Allergy Network.
Penicillin allergy is a significant burden on patient, prescribing and hospital outcomes. There has been increasing interest in the incorporation of penicillin allergy testing (i.e. delabelling) into antimicrobial stewardship (AMS) programmes to reduce the burden of penicillin allergy labels and improve prescribing. In particular, there has been a focus on point-of-care penicillin allergy assessment and direct oral challenge for low-risk phenotypes. The National Antibiotic Allergy Network has provided a guide to assist AMS clinicians with the incorporation of penicillin allergy programmes, in particular direct oral challenge, into Australian hospitals.
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Immunoglobulin A (IgA) nephropathy is the most common primary glomerulonephritis worldwide and thought to be a benign disease. Recent literature review would suggest otherwise, with outcomes remaining generally poor. ⋯ However, recent advances in the understanding of the pathogenic mechanisms underlying this disease process have allowed for the development of new target therapies. This brief review provides an overview of improved understanding of IgA nephropathy and novel therapeutic strategies.
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Takotsubo syndrome is a condition characterised by temporary acute left ventricular dysfunction with regional wall abnormalities extending beyond a single coronary artery territory. Initially thought to be benign, this condition, which is challenging to distinguish from acute coronary syndrome, has substantial morbidity and mortality. ⋯ Although beta blockers and angiotensin-converting enzyme inhibitors are used as treatments for left ventricular dysfunction, currently, there are no randomised controlled trials to support their use. In this paper, we review the latest evidence regarding aetiologies, pathophysiology, diagnostic criteria, prognosis, complications and management of Takotsubo syndrome.