Abstract Background: Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes SF3B1 (rs4685), TBX3 (rs12366395, rs8853, and rs1061651) and MAP3K1 (rs72758040) and BC in BRCA1/2-negative Chilean families. Methods: The SNPs were genotyped in 486 BC cases and 1258 controls by TaqMan Assay. Results: Our data do not support an association between rs4685:C > T, rs8853:T > C, or rs1061651:T > C and BC risk. However, the rs12366395-G allele (A/G + G/G) was associated with risk in families with a strong history of BC (OR = 1.2 [95% CI 1.0–1.6] p = 0.02 and OR = 1.5 [95% CI 1.0–2.2] p = 0.02, respectively). Moreover, rs72758040-C was associated with increased risk in cases with a moderate-to-strong family history of BC (OR = 1.3 [95% CI 1.0–1.7] p = 0.02 and OR = 1.3 [95% CI 1.0–1.8] p = 0.03 respectively). Finally, risk was significantly higher in homozygous C/C cases from families with a moderate-to-strong BC history (OR = 1.8 [95% CI 1.0–3.1] p = 0.03 and OR = 1.9 [95% CI 1.1–3.4] p = 0.01, respectively). We also evaluated the combined impact of rs12366395-G and rs72758040-C. Familial BC risk increased in a dose-dependent manner with risk allele count, reflecting an additive effect (p-trend = 0.0002). Conclusions: Our study suggests that germline variants in driver genes TBX3 (rs12366395) and MAP3K1 (rs72758040) may influence BC risk in BRCA1/2-negative Chilean families. Moreover, the presence of rs12366395-G and rs72758040-C could increase BC risk in a Chilean population.

Cyclocoelum mutabile , a digenea of the family Cyclocoelidae, was found parasitizing the air sacs of a common moorhen (Gallinula chloropus), from the surroundings of the Pantanos de Villa Wildlife Refuge, located in Chorrillos, a district of Lima, Peru. A total of 7 parasites were collected and identified as C. mutabile by morphological methods. Diagnosis was confirmed by molecular analysis and partially amplified mitochondrial genes cytochrome c oxidase subunit 1 (cox1) and NADH dehydrogenase subunit 1 (nad1). Nucleotide sequences from the isolates were compared with previous sequences from GenBank, and they showed a high similarity between them (> 96%). This finding constitutes the first record of C. mutabile in Peru. Also, this work makes a brief description of the parasite, as well as the discussion of its hosts and geographic distribution in South America.

Cyclocoelum mutabile , un digeneo de la familia Cyclocoelidae, fue hallado parasitando los sacos aéreos de una polla de agua común (Gallinula chloropus), proveniente de alrededores del Refugio de Vida Silvestre Pantanos de villa, localizada en el distrito de Chorrillos en Lima, Perú. Un total de 7 parásitos fueron colectados e identificados por métodos morfológicos como C. mutabile. El diagnóstico fue confirmado por análisis molecular, amplificando los genes mitocondriales citocromo c oxidasa subunidad 1 (cox1) y deshidrogenasa NADH subunidad 1 (nad1). Las secuencias de nucleótidos de los aislados se compararon con secuencias previas de GenBank, y mostraron una similitud entre ellas (> 96%). Este hallazgo constituye el primer registro de C. mutabile para el Perú. Además, el trabajo realiza una breve descripción del parásito, así como la discusión de sus hospederos y distribución geográfica en Sudamérica.

The objective of this study was to evaluate the tendency of patients with mandibular fractures associated with working accidents. A retrospective descriptive study was performed in all cases of mandibular fractures who attended the maxillofacial surgery service at the Clinical Hospital Mutual Seguridad C.CH.C. Santiago de Chile, in a 4-year period (January 2009 - December 2012). All mandibular fractures were recorded. The information was collected through review of electronic medical records. Between 2009 and 2012, 74 patients were included in the study with 102 lines of mandibular fractures. The most common fracture was the mandibular condyle (35 patients). The complication rate was 8%. The results shown in this study are in line with the literature and the analysis of this report provides information for the design of risk prevention plans, especially in developing measures of facial protection.

El objetivo de este estudio fue evaluar la tendencia de los pacientes con fracturas mandibulares asociados a accidentes laborales. Se realizó un estudio descriptivo retrospectivo en todos los casos de fracturas mandibulares que asistieron al servicio de cirugía maxilofacial del Hospital Clínico Mutual de Seguridad C.Ch.C., Santiago de Chile en un periodo de 4 años (enero 2009 - diciembre 2012). Todas las fracturas mandibulares fueron consignadas. La información fue recopilada a través de revisión de fichas clínicas electrónicas. Entre los años 2009 al 2012 se presentaron un total de 74 pacientes incluidos en el estudio con 102 rasgos de fracturas mandibulares. La fractura más común fue la de cóndilo mandibular (35 pacientes). Se observó una tasa de complicaciones del 8%. Los resultados mostrados en este estudio están en línea con la literatura y el análisis de este reporte provee información para el diseño de planes de prevención de riesgos, especialmente para desarrollar medidas de protección facial. Nivel de Evidencia: Tipo II. Estudio descriptivo.