Recurrence of primary hyperoxaluria after kidney transplantation

Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. We present a young woman with end-stage renal disease who received a kidney allograft and experienced early graft failure presumed to be an acute rejection. There was no improvement in kidney function, and she was required hemodialysis. Ultimately, biopsy revealed birefringent calcium oxalate crystals, which raised suspicion of primary hyperoxaluria. Further evaluations including genetic study and metabolic assay confirmed the diagnosis of primary hyperoxaluria type 1. This suggests a screening method for ruling out primary hyperoxaluria in suspected cases, especially before planning for kidney transplantation in patients with end-stage renal disease who have nephrocalcinosis, calcium oxalate calculi, or a family history of primary hyperoxaluria.     

An insulin-like growth factor-I promoter polymorphism is associated with increased mortality in subjects with myocardial infarction in an elderly Caucasian population

We investigated whether an insulin-like growth factor I (IGF-I) promoter polymorphism is associated with excess mortality in elderly subjects with myocardial infarction (MI). This association was assessed in 7,983 subjects of the Rotterdam Study during 14 years of follow-up. Among 345 subjects who developed a MI, the risk of mortality was 1.49 times higher in the variant carriers of the IGF-I promoter polymorphism than in the nonvariant carriers (95% confidence interval 1.10 to 2.10, p = 0.02). The risk of death increased with the number of variant alleles. Our study suggests that genetically determined low IGF-I activity is an important determinant of mortality in subjects with MI.     

IL-23 Receptor Gene rs7517847 and rs1004819 SNPs in Ulcerative Colitis

Background: Crohn's disease (CD) and ulcerative colitis (UC) are two major clinical presentations of inflammatory bowel disease (IBD). Many novel candidate genes have been found to be associated with increased risk for IBD. Recently IL-23 receptor gene is identified as an IBD associated gene in genome-wide studies. Objective: To ascertain whether rs7517847 and rs1004819 SNPs in the IL-23 receptor gene are associated with UC in our population in Kerman, south east of Iran. Methods: A total of 85 patients with UC and 100 healthy controls enrolled in our study. Endoscopic procedure was performed for all patients to determine their disease severity. IL-23 receptor genotyping at positions rs7517847 and rs1004819 was done by PCR-RFLP technique. Results: The results of this study showed no association between the studied polymorphisms in the IL-23 receptor gene and UC in our population. However, we found a significant association between rs7517847 gene polymorphism in IL-23 receptor and two important clinical variables including blood in stool and bowel movements in UC patients. Conclusion: The rs7517847 gene polymorphism in IL-23R may be related to the presence of blood in stool and bowel movements in patients with UC. Further functional analysis with other known IL-23 receptor genotypes and/or other candidate genes is necessary to confirm any genetic association with UC in our population.     

Datura poisoning in a family: Case series and literature review

Datura spp. is a potentially poisonous plant that is widely spread and is simply accessible, which can yield poisoning with a central and peripheral anticholinergic effect. We reported cases of family poisoning caused by the herbal tea with refreshing effects that were identified as Datura spp.