RESUMO
INTRODUCTION: American Society of Clinical Oncology (ASCO) guidelines recommend that all patients with metastatic colorectal cancer (mCRC) receive KRAS testing to guide anti-EGFR monoclonal antibody treatment. The aim of this study was to assess for disparities in KRAS testing and mutational status. METHODS: The New Mexico Tumor Registry (NMTR), a population-based cancer registry participating in the National Cancer Institute's Surveillance, Epidemiology and End Results program, was queried to identify all incident cases of CRC diagnosed among New Mexico residents from 2010 to 2013. RESULTS: Six hundred thirty-seven patients were diagnosed with mCRC from 2010-2013. As expected, KRAS testing in Stage 4 patients presented the highest frequency (38.4%), though testing in stage 3 (8.5%), stage 2 (3.4%) and stage 1 (1.2%) was also observed. In those with metastatic disease, younger patients (≤ 64 years) were more likely to have had testing than patients 65 years and older (p < 0.0001). Patients residing in urban areas received KRAS testing more often than patients living in rural areas (p = 0.019). No significant racial/ethnic disparities were observed (p = 0.66). No significant differences were seen by year of testing. CONCLUSION: Age and geographic disparities exist in the rates of KRAS testing, while sex, race/ethnicity and the year tested were not significantly associated with testing. Further study is required to assess the reasons for these disparities and continued suboptimal adherence to current ASCO KRAS testing guidelines.
RESUMO
So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.
Assuntos
Fibrose Cística/genética , Mutação/genética , Cuba , Análise Mutacional de DNA , Frequência do Gene , Variação Genética , Genética Populacional , HumanosRESUMO
Con el objetivo de estudiar la posible relación entre los niveles orgánicos de vitamina A y la gravedad de un proceso neumónico se investigaron los niveles séricos de retinol, la citología de impresión conjuntival y la gravedad clínica de 178 niños ingresados en un hospital pediátrico de La Habana por neumonía infecciosa aguda. La neumonía se consideró complicada (n=57) cuando el paciente presentó derrame pleural, abscesos pulmonares o ambos, de lo contrario, se consideró no complicada (n=121). Los valores de retinol sérico en ambos grupos fueron similares y no se halló asociación entre la gravedad de la neumonía y los niveles séricos de retinol. En cambio, en los niños con citología conjuntival alterada la neumonía complicada fue dos veces más frecuente que en los niños con citología normal (riesgo relativo=2.2, con un intervalo de confianza del 95
de 1,1 a 4,5)