An unusual cause of acute renal failure in systemic sclerosis

BACKGROUND: Scleroderma renal crisis is one of the most life threatening complications of scleroderma. Enteric hyperoxaluria complicates extensive disease or resection of the small intestine in the presence of an intact colon, and is associated with calcium oxalate nephrolithiasis. This cause of renal failure may be underestimated and should be considered in all patients with malabsorption and renal failure. CASE REPORT: A 78 year old woman with systemic sclerosis affecting the bowel developed acute renal failure caused by oxalate nephropathy. RESULTS: The patient's renal failure improved on an oxalate free diet.     

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.     

Correction to: Regional differences in baseline disease activity and remission rates following golimumab treatment for RA: results from the GO-MORE trial

Clinical Rheumatology - The original publication contains two areas which require correcting. None of these errors change the results or conclusions of the article, but the authors wish to...