Browsing by Author "Carvajal, D."

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    Mendelian Randomization Analysis of the Relationship Between Native American Ancestry and Gallbladder Cancer Risk
    (2022) Zollner, L.; Boekstegers, F.; Ponce, C.B.; Scherer, D.; Marcelain, K.; Gárate-Calderón, V.; Waldenberger, M.; Morales, E.; Rojas, A.; Munoz, C.; Müller, B.; Retamales, J.; de Toro, G.; Kortmann, A.V.; Barajas, O.; Rivera, M.T.; Cortés, A.; Loader, D.; Saavedra, J.; Gutiérrez, L.; Ortega, A.; Bertrán, M.E.; Bartolotti, L.; Gabler, F.; Campos, M.; Alvarado, J.; Moisán, F.; Spencer, L.; Nervi Nattero, Bruno; Carvajal, D.; Losada, H.; Almau, M.; Fernández, P.; Olloquequi, J.; Carter, A.R.; Miquel, Juan Francisco; Bustos, B.I.; Guajardo, M.F.; Gonzalez-Jose, R.; Bortolini, M.C.; Acuña-Alonzo, V.; Gallo, C.; Linares, A.R.; Rothhammer, F.; Bermejo, J.L.
    Background A strong association between the proportion of Native American ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest Native American people in Chile. We set out to investigate the causal association between Native American Mapuche ancestry and GBC risk, and the possible mediating effects of gallstone disease and body mass index (BMI) on this association. Methods Markers of Mapuche ancestry were selected based on the informativeness for assignment measure and then used as instrumental variables in two-sample mendelian randomization (MR) analyses and complementary sensitivity analyses. Result We found evidence of a causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% for every 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.6×10-5). Mapuche ancestry was also causally linked to gallstone disease (IVW risk increase of 3.6% per 1% increase in Mapuche proportion, 95% CI 3.1% to 4.0%, p = 1.0×10-59), suggesting a mediating effect of gallstones in the relationship between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative causal effect on BMI (IVW estimate -0.006 kg/m2 per 1% increase in Mapuche proportion, 95% CI -0.009 to -0.003, p = 4.4×10-5). Conclusions The results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between Mapuche ancestry and GBC risk previously noted in observational studies appears to be causal, primary and secondary prevention strategies that take into account the individual proportion of Mapuche ancestry could be particularly efficient.
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    Recurring parachordoma in the hand of a child. A case report and review of the literature
    (2012) Zoroquiain Vélez, José Pablo; Carvajal, D.; Zúñiga, S.; Bolados, C.; González Bombardiere, Sergio
    El paracordoma es una neoplasia infrecuente de partes blandas que forma parte del espectro tumor mixto/mioepitelioma. Descrito en la década de 1950, se han comunicado 64 casos, 10 de los cuales corresponden a niños. El rango etario es amplio, con una media en la cuarta década. El paracordoma es morfológicamente similar al cordoma, pero su localización es extraaxial, preferentemente en la porción proximal de las extremidades, y posee un patrón inmunohistoquímico característico. Esta neoplasia es de crecimiento lento y localmente agresivo, pero se han informado casos con metástasis. Se presenta un niño de 8 años con un paracordoma de un año de evolución en la mano izquierda, que recidivó a los 6 meses de la cirugía inicial.