Citations

Objective Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE) that exhibits familial aggregation and may progress to end‐stage renal disease (ESRD). LN is more prevalent among African Americans than among European Americans. This study was undertaken to investigate the hypothesis that the apolipoprotein L1 gene ( APOL1 ) nephropathy risk alleles G1/G2, common in African Americans and rare in European Americans, contribute to the ethnic disparity in risk. Methods APOL1 G1 and G2 nephropathy alleles were genotyped in 855 African American SLE patients with LN‐ESRD (cases) and 534 African American SLE patients without nephropathy (controls) and tested for association under a recessive genetic model, by logistic regression. Results Ninety percent of the SLE patients were female. The mean ± SD age at SLE diagnosis was significantly lower in LN‐ESRD cases than in SLE non‐nephropathy controls (27.3 ± 10.9 years versus 39.5 ± 12.2 years). The mean ± SD time from SLE diagnosis to development of LN‐ESRD in cases was 7.3 ± 7.2 years. The G1/G2 risk alleles were strongly associated with SLE‐ESRD, with 25% of cases and 12% of controls having 2 nephropathy alleles (odds ratio [OR] 2.57, recessive model P = 1.49 × 10 −9 ), and after adjustment for age, sex, and ancestry admixture (OR 2.72, P = 6.23 × 10 −6 ). The age‐, sex‐, and admixture‐adjusted population attributable risk for ESRD among patients with G1/G2 polymorphisms was 0.26, compared to 0.003 among European American patients. The mean time from SLE diagnosis to ESRD development was ∼2 years earlier among individuals with APOL1 risk genotypes ( P = 0.01). Conclusion APOL1 G1/G2 alleles strongly impact the risk of LN‐ESRD in African Americans, as well as the time to progression to ESRD. The high frequency of these alleles in African Americans with near absence in European Americans explains an important proportion of the increased risk of LN‐ESRD in African Americans.

AbstractDesmoid tumor, or aggressive fibromatosis, is a rare, histologically benign, fibroblastic lesion that infrequently presents in the head and neck. Desmoid tumors often grow locally, invasively, and may, in rare instances, be fatal secondary to invasion into critical structures, such as airway or major vessels. The most common treatment is surgery, but desmoid tumors are characteristically associated with a high local recurrence rate after resection. Although the margin status seems to be of importance, operations that avoid function loss and esthetic disfigurement should be the primary goal. The efficacy of postoperative radiotherapy is controversial. Its potential benefit should be carefully balanced against possible radiation‐induced adverse effects. Alternative treatment modalities, such as primary radiotherapy and medical treatment or a wait‐and‐see policy, may be preferable to mutilating surgery. Considering all the aforementioned, it seems obvious that desmoid tumors of the head and neck present a therapeutic challenge and require an individualized approach. © 2014 Wiley Periodicals, Inc.Head Neck, 36: 1517–1526, 2014