Internal medicine journal
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Internal medicine journal · Jun 2015
Case ReportsNovel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p. ⋯ This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p. Cys326 in SLC40A1 gene function.
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Internal medicine journal · Jun 2015
Prevalence of incidental pulmonary nodules on computed tomography of the thorax in trauma patients.
Lung cancer is the third leading cause of death in high-income countries. Early detection leads to improved clinical outcomes, with evidence showing that lung cancer screening reduces lung cancer mortality. Knowledge of the population prevalence of pulmonary nodules affects the efficacy and cost-effectiveness of a local screening programme. ⋯ Incidental pulmonary nodules are common in the general population. This has implications for possible lung cancer screening recommendations in the Australian population. Referral and/or review systems are essential to ensure adequate follow up of incidental findings, as it is likely some patients are not receiving adequate follow up at present.
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Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-radiological syndrome characterised by severe thunderclap headaches with or without other neurological symptoms and multifocal constriction of cerebral arteries that usually resolves spontaneously within 3 months. Most patients recover completely, but up to 10% have a permanent neurological disability and some even die. Previously RCVS has been described in many clinical contexts and under different names with the term RCVS first being suggested in 2007 to unify the group. ⋯ It is believed to have a similar pathophysiological mechanism to the posterior reversible encephalopathy syndrome (PRES), and both can occur in similar clinical contexts and are frequently associated. Treatment options include calcium channel antagonists. RCVS occurs in a broad range of clinical situations making it an increasingly recognised condition about which doctors in various specialties need to be aware.
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Internal medicine journal · Jun 2015
Proton pump inhibitors utilisation in older people in New Zealand from 2005 to 2013.
The prescriptions for proton pump inhibitors (PPI) to treat acid-related disorders continue to rise internationally and in New Zealand. Concerns have been raised regarding its widespread use, costs and potential adverse effects in older people. ⋯ Utilisation of PPI among older people in New Zealand increased by a fifth from 2005 to 2013. Given the concerns surrounding the long-term PPI use in older people, the appropriateness of the increased utilisation needs to be continuously re-evaluated by prescribers and health policy makers.
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Internal medicine journal · Jun 2015
Multicenter Study Observational StudyCompassionate access anti-tumour necrosis factor-α therapy for ulcerative colitis in Australia: the benefits to patients.
The efficacy of infliximab has been demonstrated in patients with both acute severe and moderate-severe ulcerative colitis (UC). However, there is a need for 'real-life data' to ensure that conclusions from trial settings are applicable in usual care. We therefore examined the national experience of anti-tumour necrosis factor-α (TNF-α) therapy in UC. ⋯ These data show an excellent overall benefit for anti-TNF-α therapy in both ASUC and MRUC. In particular, only short-duration anti-TNF-α was required in ASUC. These real-life data thus support the clinical trial data and should lead to broader use of this therapy in UC.