Resultados de pesquisa

Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a prevalence of 30%, and the Alu–mediated deletion of exons 23 to 29 (EX23_29del; p.A999_S1403del) found in 10-20% of patients. Homozygosity is rare. A 40-year-old female with a previous diagnosis of PXE was admitted in Nephrology Outpatient Clinic for nephrocalcinosis. She has two sisters, one of which also has a diagnosis of PXE and nephrocalcinosis. Physical examination revealed the presence of typical skin and ocular abnormalities....

Publicado em: The Proceedings of the XIIIth International Symposium on Amyloidosis, May 6-10, 2012, Groningen, The Netherlands

Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis. Squamous cell carcinoma of the urinary bladder (SCC) constitutes chronic sequelae of this infection, and S. haematobium infection is accounted as a risk factor for this type of cancer. This infection is considered a neglected tropical disease and is endemic in numerous countries in Africa and the Middle East. Schistosome eggs produce catechol-estrogens. These estrogenic molecules are metabolized to active quinones that induce modifications in DNA. The cytochrome P450 (CYP) enzymes are a superfamily of mono-oxygenases involved in estrogen biosynthesis and metabolism, the generation of DNA damaging procarcinogens, and the response to anti-estrogen therapies. IL6 Interleukin-6 (IL-6) is a pleiotropic cytokine expressed in various ...