RESUMO
A 49-year-old woman with sickle cell disease presented with one month of exertional dyspnea, weakness, and fever and was diagnosed with isolated pulmonic valve endocarditis secondary to methicillin-resistant Staphylococcus bacteremia in the setting of a peripherally inserted central venous catheter. Chest computerized tomography showed multiple bilateral pulmonary nodular opacities consistent with septic emboli. Transthoracic and transesophageal echocardiograms revealed a large echodensity on the pulmonic valve requiring vegetation excision and pulmonic valve repair. In conclusion, isolated pulmonic valve endocarditis is a rare cause of infective endocarditis that warrants a high index of clinical suspicion. Furthermore the management of patients with sickle cell disease and endocarditis requires special consideration.
RESUMO
We performed a variance components linkage analysis of renal function, measured as glomerular filtration rate (GFR), in 63 extended families with multiple members with type 2 diabetes. GFR was estimated from serum concentrations of cystatin C and creatinine in 406 diabetic and 428 nondiabetic relatives. Results for cystatin C were summarized because they are superior to creatinine results. GFR aggregates in families with significant heritability (h(2)) in diabetic (h(2) = 0.45, P < 1 x 10(-5)) and nondiabetic (h(2) = 0.36, P < 1 x 10(-3)) relatives. Genetic correlation (r(G) = 0.35) between the GFR of diabetic and nondiabetic relatives was less than one (P = 0.01), suggesting that genes controlling GFR variation in these groups are different. Linkage results supported this interpretation. In diabetic relatives, linkage was strong on chromosome 2q (logarithm of odds [LOD] = 4.1) and suggestive on 10q (LOD = 3.1) and 18p (LOD = 2.2). In nondiabetic relatives, linkage was suggestive on 3q (LOD = 2.2) and 11p (LOD = 2.1). When diabetic and nondiabetic relatives were combined, strong evidence for linkage was found only on 7p (LOD = 4.0). In conclusion, partially distinct sets of genes control GFR variation in relatives with and without diabetes on chromosome 2q, possibly on 10q and 18p in the former, and on 7p in both. None of these genes overlaps with genes controlling variation in urinary albumin excretion.