B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient with ETV6 thrombocytopenia and leukemia predisposition syndrome: novel clinical presentation and perspective.

Not available.

Racial and Ethnic Variations in Mortality Rates for Patients Undergoing Maintenance Dialysis Treated in US Territories Compared with the US 50 States.

BACKGROUND AND OBJECTIVES: In the United States mortality rates for patients treated with dialysis differ by racial and/or ethnic (racial/ethnic) group. Mortality outcomes for patients undergoing maintenance dialysis in the United States territories may differ from patients in the United States 50 states. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This retrospective cohort study of using US Renal Data System data included 1,547,438 adults with no prior transplantation and first dialysis treatment between April 1, 1995 and September 28, 2012. Cox proportional hazards regression was used to calculate hazard ratios (HRs) of death for the territories versus 50 states for each racial/ethnic group using the whole cohort and covariate-matched samples. Covariates included demographics, year of dialysis initiation, cause of kidney failure, comorbid conditions, dialysis modality, and many others. RESULTS: Of 22,828 patients treated in the territories (American Samoa, Guam, Puerto Rico, Virgin Islands), 321 were white, 666 were black, 20,299 were Hispanic, and 1542 were Asian. Of 1,524,610 patients in the 50 states, 838,736 were white, 444,066 were black, 182,994 were Hispanic, and 58,814 were Asian. The crude mortality rate (deaths per 100 patient-years) was lower for whites in the territories than the 50 states (14 and 29, respectively), similar for blacks (18 and 17, respectively), higher for Hispanics (27 and 16, respectively), and higher for Asians (22 and 15). In matched analyses, greater risks of death remained for Hispanics (HR, 1.65; 95% confidence interval, 1.60 to 1.70; P<0.001) and Asians (HR, 2.01; 95% confidence interval, 1.78 to 2.27; P<0.001) living in the territories versus their matched 50 states counterparts. There were no significant differences in mortality among white or black patients in the territories versus the 50 states. CONCLUSIONS: Mortality rates for patients undergoing dialysis in the United States territories differ substantially by race/ethnicity compared with the 50 states. After matched analyses for comparable age and risk factors, mortality risk no longer differed for whites or blacks, but remained much greater for territory-dwelling Hispanics and Asians.

Regional Variations in the Interpretation of the End-Stage Renal Disease Thirty-Month Coordination Period: Potential Implications for Patient Care.

Chronic kidney disease is a non-communicable disease that is now well recognized as a major source of premature morbidity and mortality. In general, racial/ethnic minorities in the United States are more likely than non-minority groups to develop end-stage renal disease (ESRD), but paradoxically most have a lower mortality risk. Unlike most minorities, dialysis patients in Puerto Rico have a mortality risk nearly 50% higher than the national average. Multiple factors such as medical conditions, socioeconomic, environmental, and health system factors can influence health outcomes for patients with ESRD. We describe one potential health system factor that may contribute to this finding, a unique interpretation and implementation of the ESRD Medicare Secondary Payer provision in the Commonwealth of Puerto Rico. We conducted a search of regulatory documents and key stakeholder interviews to help envision the potential implications of these differences for dialysis facilities, health care providers, and patients with ESRD.

Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register.

PURPOSE: The first Argentine experience with epidemiologic, molecular, and genetic counseling data is reported. METHODS: We analyzed 43 families fulfilling Amsterdam criteria identified from a prospective database with data from 779 relatives. RESULTS: Eleven families (25.6 percent) presented as Lynch I, 29 (67.4 percent) as Lynch II, and 3 (7 percent) as Muir-Torre syndrome. Among the 306 affected members, 197 cases of colorectal cancer were identified (mean age at diagnosis, 52.1 (range, 21-90) years). The most frequent extracolonic tumors were gastric adenocarcinoma in males and endometrium adenocarcinoma in females. A high incidence of breast cancer was observed (16 cases among 155 females, crude rate: 11,594.20/100,000). Twenty-seven patients (8.8 percent) developed more than one tumor. These patients were younger than those with only one tumor (45 vs. 51 years; P = 0.001). In 5 of 11 patients who underwent molecular sequencing, a pathologic mutation was found. A novel C deletion at 1910 nucleotide, codon 637, exon 12 of MSH2 gene was identified in a family with a strong aggregation of breast cancer with lack of MSH2 immunohistochemical staining. For 78.2 percent of counseled individuals, this session represented the first time they received information, and 73.9 percent stated that their physicians were unaware of their family background. CONCLUSIONS: Argentine families presented a high incidence of stomach cancer. The elevated incidence of breast cancer and its association with a novel hMSH2 mutation bring to consideration the inclusion of this malignancy as part of the syndrome. A lack of awareness by both physicians and persons at risk was observed.