Summary

We recommend screening for infectious comorbidities such as tuberculosis and viral hepatitis at the first clinical encounter in patients with lupus in addition to recommending pneumococcal vaccination and yearly influenza vaccination. Bromosporine mouse There is currently limited evidence to support antibiotic prophylaxis for SLE patients

on immunosuppressive agents to prevent penumocystis or to support screening for cytomegalovirus and further study is required. Lastly, timely antibiotic treatment in patients with lupus who are hospitalized with infectious complications is important, as delayed antibiotic treatment may be associated with increased mortality.”
“Background: Familial tumoral calcinosis is a rare autosomal recessive disorder that was first described well in a report on four patients from one family in 1969. The disease leads to periarticular ectopic calcifications. The original report described patients from black, healthy, unrelated parents with sixteen children, seven of whom had the

disease.

Methods: On the basis of retrospective chart reviews and interviews with surviving family members, we describe the long-term follow-up of this one family, encompassing as long as forty years. Of the sixteen siblings, seven had tumoral calcinosis.

Results: All seven affected children had hyperphosphatemia. There were two subsequent generations comprising thirteen children and seven grandchildren with no instances of tumoral calcinosis. The seven affected patients were followed for as many as forty years and underwent an average of NU7441 nmr twenty-one operations (range, four to thirty-six operations) for the treatment of calcified lesions. The genetic defect has been identified as the GALNT3 gene, thus see more leading to the hyperphosphatemic form of the disease. Although two of the patients had died by the time of the present study, the remaining five provided accounts of the disease course, the response to surgery and to medical therapy, and the effect of therapy on their lives. Some members had relatively few lesions and surgical procedures (as few as four), whereas others

had an unrelenting course of lesions, recurrences, and surgical procedures (as many as thirty-six, with numerous other procedures). Three patients had multiyear periods with few symptoms-one for seven years, one for twelve years, and one for fifteen years. No effective medical therapy was found to control the lesions, and operations were associated with a high recurrence rate.

Conclusions: Familial tumoral calcinosis has a varied natural history; some patients have an unrelenting course, while others may experience quiescent periods. The GALNT3 gene is responsible for the hyperphosphatemic form as seen in this family. Molecular testing may be of benefit to members of affected families, and future studies may help to explain the phenotypic variability among affected individuals.