Pak J Med Sci
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Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3) leads to its progressive lysosomal accumulation throughout the body. Multiple organs can be affected. ⋯ Some possible reasons for this apparent discrepancy are discussed. ERT may be less effective in patients who have already developed fibrosis or irreversible organ damage. However, other confounding factors may be equally important.
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To determine the frequency of vaccination status in patients with SARS-CoV-2 infection. ⋯ The frequency of SARS-CoV-2 infection was greater in unvaccinated patients. The odds of developing severe COVID infection in unvaccinated patients versus vaccinated was 8.55 times higher.
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To evaluate the efficacy of arthroscopic internal drainage (AID) and cyst wall resection (CWR) in children with popliteal cysts. ⋯ AID plus CWR is a minimally invasive and safe approach for pediatric patients with popliteal cysts to promote postoperative recovery and reduce the recurrence rate.
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To investigate the risk factors of lower limb amputation, and help physicians better understand the clinical characteristics of patients with diabetic foot, and make treatment strategies for these patients correctly. ⋯ The diabetic foot patients with male sex, larger ulcer size, higher grade of Wagner classification, peripheral arterial disease or higher fibrinogen level may face higher risk of lower limb amputation.
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To determine accuracy of SAGES, ASGE and ESGE criteria for predicting presence of common bile duct (CBD) stones. ⋯ HR strata of SAGES, ASGE and ESGE scores have excellent accuracy in predicting CBD stones whereas IR and LR criteria are suboptimal for excluding CBD stones.