Internal medicine journal
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Internal medicine journal · Mar 2024
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
Enzyme replacement therapy (ERT) has revolutionised the management of patients with Gaucher disease (GD). In 2018, we published the safety and efficacy of rapid 10-min infusion of velaglucerase alfa in previously treated patients, mostly on low-dose therapy. ⋯ Home therapy with rapid infusion of high-dose velaglucerase alfa was a safe, effective and preferable alternative for patients with GD naïve to treatment. We believe that shortening the infusion time improves the QoL of patients with GD who have a lifelong commitment to intravenous therapy.
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Internal medicine journal · Mar 2024
The impact of coronavirus-19 vaccination on anti-nuclear cytoplasmic antibody vasculitis hospitalisations in a Sydney health network.
There have been reports of COVID-19 vaccination triggering anti-nuclear cytoplasmic antibody (ANCA)-associated vasculitis (AAV), but no robust studies have examined the link. This retrospective cohort study assessed the impact of COVID vaccination on the rate of denovo and relapsed AAV in a Sydney Local Health District from 2018 to 2022. Despite more than 95% of the population receiving vaccination, the case rate of AAV was stable. These findings do not support a relationship between COVID vaccination and AAV.
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Internal medicine journal · Mar 2024
Use of a type 1 genetic risk score for classification of diabetes type in young Australian adults: the Fremantle Diabetes Study Phase II.
The applicability of a UK-validated genetic risk score (GRS) was assessed in 158 participants in the Fremantle Diabetes Study Phase II diagnosed between 20 and <40 years of age with type 1 or type 2 diabetes or latent autoimmune diabetes of adults (LADA). For type 1 versus type 2/LADA, the area under the receiver operating characteristic curve (AUC) was highest for serum C-peptide (0.93) and lowest for the GRS (0.66). Adding age at diagnosis and body mass index to C-peptide increased the AUC minimally (0.96). The GRS appears of modest diabetes diagnostic value in young Australians.
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Internal medicine journal · Mar 2024
Case ReportsCushing syndrome and tertiary adrenal insufficiency from prolonged concomitant use of budesonide and posaconazole.
Budesonide is a 'non-absorbable' corticosteroid often used for gut graft versus host disease. Systemic exposure is usually minimal because of metabolism by cytochrome (CYP) 3A4 in enterocytes and the liver. However, concomitant use of posaconazole and voriconazole, inhibitors of CYP3A4 commonly used as antifungal prophylaxis in allograft patients receiving immunosuppression, can lead to substantial systemic steroid exposure. This paper describes a case of severe iatrogenic Cushing syndrome and tertiary adrenal insufficiency because of this interaction, highlighting the necessity for improved awareness of this phenomenon.
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Internal medicine journal · Mar 2024
Serum lipase in acute pancreatitis associated with hypertriglyceridaemia.
The incidence of hypertriglyceridaemic pancreatitis is increasing. Hypertriglyceridaemia may be associated with false lowering of serum amylase and lipase in vitro. ⋯ Serum lipase levels were in the normal range in two patients (7.7%) and less than three times the upper end of the reference interval in 11 individuals (42%). Awareness of the potential for normal and nonsignificantly elevated serum lipase levels in the setting of hypertriglyceridaemic pancreatitis is important to avoid a missed diagnosis, to enable appropriate short- and long-term management and to prevent recurrent episodes.