genetic disorder, rare disease, cilia, reduced lifespan Alström syndrome is a rare monogenic ciliopathy caused by a mutation to the Alström syndrome 1 (ALMS1) gene. Alström syndrome has an autosomal recessive nature of inheritance. Approximately 1,200 cases of Alström syndrome have been identified worldwide. Complications of the disease are likely caused by dysfunctional cilia with complications arising early in life. The known complications of Alström syndrome have been reported to impact multiple major organ systems, including the endocrine system, cardiac system, renal system, sensory system, and hepatic system. The symptoms of Alström syndrome have great variability in presentation and intensity but often lead to organ damage. This has resulted in a shortened lifespan for individuals affected by Alström syndrome. Individuals with the disease rare exceed the age of 50. Currently, there are no specific treatments for Alström syndrome that can cure the disease, prevent the complications, or reverse the complications. Current management involves management of symptoms with the goal of improving quality of life and lifespan. This review aims to summarize the current knowledge on the epidemiology, diagnosis, pathophysiology, complications, management, and prognosis of Alström syndrome. In addition to that, this review also aims to raise awareness and encourage research on Alström syndrome as the condition has a huge impact on affected individuals.
Background and Objectives The risk of transfusion‐transmitted hepatitis C virus (HCV) infections is extremely low in Australia. This study aims to conduct a cost‐effectiveness analysis of different testing strategies for HCV infection in blood donations. Materials and Methods The four testing strategies evaluated in this study were universal testing with both HCV antibody (anti‐HCV) and nucleic acid testing (NAT); anti‐HCV and NAT for first‐time donations and NAT only for repeat donations; anti‐HCV and NAT for transfusible component donations and NAT only for plasma for further manufacture; and universal testing with NAT only. A decision‐analytical model was developed to assess the cost‐effectiveness of alternative HCV testing strategies. Sensitivity analysis and threshold analysis were conducted to account for data uncertainty. Results The number of potential transfusion‐transmitted cases of acute hepatitis C and chronic hepatitis C was approximately zero in all four strategies. Universal testing with NAT only was the most cost‐effective strategy due to the lowest testing cost. The threshold analysis showed that for the current practice to be cost‐effective, the residual risks of other testing strategies would have to be at least 1 HCV infection in 2424 donations, which is over 60,000 times the baseline residual risk (1 in 151 million donations). Conclusion The screening strategy for HCV in blood donations currently implemented in Australia is not cost‐effective compared with targeted testing or universal testing with NAT only. Partial or total removal of anti‐HCV testing would bring significant cost savings without compromising blood recipient safety.
Background and Objectives: Parallel testing of blood donations for hepatitis C virus (HCV) antibody and HCV RNA by nucleic acid testing (NAT) has been standard practice in Australia since 2000. Meanwhile, NAT technologies have improved, and HCV has become a curable disease. This has resulted in a significant reduction in the risk and clinical consequences of HCV transmission through transfusion. This study aimed to estimate the residual risk (RR) under various testing options to determine the optimal testing strategy. Materials and Methods:A developed deterministic model calculated the RR of HCV transmission for four testing strategies. A low, mid and high estimate of the RR was calculated for each. The testing strategies modelled were as follows: universal dual testing, targeted dual testing for higher risk groups (first-time donors or transfusible component donations) and universal NAT only. Results:The mid estimate of the RR was 1 in 151 million for universal dual testing, 1 in 111 million for targeted dual testing of first-time donors, 1 in 151 million for targeted dual testing for transfusible component donations and 1 in 66 million for universal NAT only. For all testing strategies, all estimates were considerably less than 1 in 1 million. Conclusion:Antibody testing in addition to NAT does not materially change the risk profile. Even conservative estimates for the cessation of anti-HCV predict an HCV transmission risk substantially below 1 in 1 million. Therefore, given that it is not contributing to blood safety in Australia but consuming resources, anti-HCV testing can safely be discontinued.
Leukocytoclastic vasculitis is a small vessel vasculitis that is usually confined to the skin with rare extracutaneous manifestation. While this condition can be idiopathic, it has been linked with systemic autoimmune conditions, malignancies, infections, and drugs. In this paper, we present a case of a patient who presented with leukocytoclastic vasculitis many years after her diagnosis of rheumatoid arthritis. It is important that physicians investigate leukocytoclastic vasculitis, as the condition, while often idiopathic, can be a presentation of something more sinister such as malignancy or systemic autoimmune condition.
Metformin is one of the most widely prescribed medications for type 2 diabetes. While extremely rare, metformin has been reported to cause hemolysis in patients with glucose-6-phosphate dehydrogenase deficiency. In this paper, we present a case of a patient with previously undiagnosed glucose-6-phosphate dehydrogenase deficiency who presented with hemolysis likely induced by metformin. The patient concurrently presented with idiopathic Steven-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). Metformin causing hemolysis is extremely rare but considering the severe outcomes, it is something that medical practitioners need to be aware of.
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