Browsing by Author "Miquel P., Juan Francisco"

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    A case-control study of a combination of single nucleotide polymorphisms and clinical parameters to predict clinically relevant toxicity associated with fluoropyrimidine and platinum-based chemotherapy in gastric cancer
    (2021) Cordova-Delgado, Miguel; Bravo Castillo, María Loreto; Cumsille, Elisa; Hill Machado, Charlotte Nicole; Pinto, Mauricio P.; Miquel P., Juan Francisco; Rodríguez-Fernández, María; Corvalán R., Alejandro; Garrido S., Marcelo; Owen, Gareth Ivor
    Background: Fluoropyrimidine plus platinum chemotherapy remains the standard first line treatment for gastric cancer (GC). Guidelines exist for the clinical interpretation of four DPYD genotypes related to severe fluoropyrimidine toxicity within European populations. However, the frequency of these single nucleotide polymorphisms (SNPs) in the Latin American population is low (< 0.7%). No guidelines have been development for platinum. Herein, we present association between clinical factors and common SNPs in the development of grade 3–4 toxicity. Methods: Retrospectively, 224 clinical records of GC patient were screened, of which 93 patients were incorporated into the study. Eleven SNPs with minor allelic frequency above 5% in GSTP1, ERCC2, ERCC1, TP53, UMPS, SHMT1, MTHFR, ABCC2 and DPYD were assessed. Association between patient clinical characteristics and toxicity was estimated using logistic regression models and classification algorithms. Results; Reported grade ≤ 2 and 3–4 toxicities were 64.6% (61/93) and 34.4% (32/93) respectively. Selected DPYD SNPs were associated with higher toxicity (rs1801265; OR = 4.20; 95% CI = 1.70–10.95, p = 0.002), while others displayed a trend towards lower toxicity (rs1801159; OR = 0.45; 95% CI = 0.19–1.08; p = 0.071). Combination of paired SNPs demonstrated significant associations in DPYD (rs1801265), UMPS (rs1801019), ABCC2 (rs717620) and SHMT1 (rs1979277). Using multivariate logistic regression that combined age, sex, peri-operative chemotherapy, 5-FU regimen, the binary combination of the SNPs DPYD (rs1801265) + ABCC2 (rs717620), and DPYD (rs1801159) displayed the best predictive performance. A nomogram was constructed to assess the risk of developing overall toxicity. Conclusion: Pending further validation, this model could predict chemotherapy associated toxicity and improve GC patient quality of life.
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    A century of trends in adult human height
    (eLife Sciences Publications Ltd, 2016) Bentham, J.; Di Cesare, M.; Zhou, B.; Bixby, H.; Fortunato, L.; Bennett, J.E.; Kontis, V.; Riboli, E.; Ezzati, M.; Chan, Q.; Elliott, P.; Gunter, M.; Hihtaniemi, I. T.; Murphy, N.; Norat, T.; Ferreccio Readi, Fresia Catterina; Margozzini Maira, Paula; Miquel P., Juan Francisco; Nervi, Flavio; Valdivia Cabrera, Gonzalo
    Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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    A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
    (2007) Buch, S.; Schafmayer, C.; Völzke, H.; Becker, C.; Franke, A.; Von Eller-Eberstein, H.; Kluck, C.; Bässmann, I.; Brosch, M.; Lammert, F.; Miquel P., Juan Francisco; Nervi, Flavio; Wittig, M.; Rosskopf, D.; Timm, B.; Höll, C.; Seeger, M.; Elsharawy, A.; Lu, T.; Egberts, J.; Fändrich, F.; Fölsch, U. R.; Krawczak, M.; Schreiber, S.; Nürnberg, P.; Tepel, J.; Hampe, J.
    With an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries1,2. We performed an association scan of 4500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in ABCG8 (allelic P value P-CCA = 4.1 x 10(-9)), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (P = 2.8 x 10(-7)) and 167 Chilean subjects (P = 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8-2.6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.
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    Abnormalities of lipid metabolism, gallstone disease and gallbladder function
    (2011) Zanlungo Matsuhiro, Silvana; Miquel P., Juan Francisco; Rigotti Rivera, Attilio; Nervi, Flavio
    Gallstone disease is highly prevalent with a complex and multifactorial pathogenesis. Gallstones are closely related to the metabolic syndrome associated disease conditions in which abnormal regulation of lipid metabolism secondary to insulin resistance plays a major pathogenic role. Insulin resistance increases biliary cholesterol secretion and affects gallbladder (GB) motility. Regulation of lipid metabolism and energy homeostasis is complex and the GB has been considered to have a minor regulatory role in both the intestinal absorption of lipids and metabolic homeostasis of the whole body. In fact, ablation of the GB does not affect nutrient absorption or the ability to lead a normal life. GB function regulates the cycling of bile salts through the enterohepatic circulation. Bile salts have important signaling effects that can affect whole body metabolic homeostasis. The GB and intestinal mucosa are rich in the hormone FGF15/19 and the receptor TGR5, which participate in metabolic regulation. Recent evidence supports the hypothesis that cholecystectomy may not be innocuous and that the GB has a significant role in the regulation of hepatic triglyceride metabolism. This article provides information regarding recent advances in the understanding of the interaction between regulation of lipid metabolism, insulin resistance, gallstone disease and GB function.
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    Acceso a colecistectomía en un programa de tamizaje ecográfico de colelitiasis en centros de medicina familiar
    (2016) Bay, C.; Ocares, M.; Toledo, F.; Nicolás, Barticevic; Mora, I.; Villouta, F.; Cruz Olivos, Francisco; Puschel Illanes, Klaus; Miquel P., Juan Francisco
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    Asociación entre bilirrubina sérica con índices de sensibilidad insulínica en mujeres normoglicémicas
    (2020) Vergara Vargas, Paula Francisca; Santos Martín, José Luis; Miquel P., Juan Francisco; Pontificia Universidad Católica de Chile. Facultad de Medicina
    INTRODUCCION: Estudios epidemiológicos han mostrado que la hiperbilirrubinemia leve y crónica (como la encontrada en el síndrome de Gilbert) podría estar asociada con menor resistencia a la insulina y menor riesgo de diabetes tipo 2. El mecanismo por el cual la bilirrubina produce estos beneficios no parece ser exclusivamente por su capacidad antioxidante, sino que podría estar mediada también vía estimulación del receptor nuclear PPAR. OBJETIVOS: Evaluar la asociación entre bilirrubina sérica y sensibilidad insulínica calculada a partir de índices derivados del test oral de tolerancia a la glucosa (TTOG) y del test endovenoso de glucosa (TTGIV). Evaluar la asociación entre genotipo UGT1A1 y sensibilidad a la insulina. METODOS: Se estudiaron dos grupos de voluntarias normoglicémicas. El primero, 494 mujeres que fueron sometidas a un TTGO estándar. El segundo grupo, de 69 mujeres que fueron sometidas a un TTGO y a un IVGTT de una hora. En ambos grupos se midió la bilirrubina circulante total y en el grupo 2 la directa. Se calcularon índices HOMA-S, Matsuda y CSi. Los genotipos UGT1A1 se determinaron mediante ensayos Taqman. Se realizaron correlaciones de Spearman y regresión lineal múltiple. RESULTADOS: Los niveles séricos de bilirrubina total se correlacionaron directamente con el índice HOMA-S (r=0.27; p<0.001). índice Matsuda (r=0.23; p<=.001) y Csi (r=0.37; p<0.008). La bilirrubina sérica indirecta se asoció de forma estrecha con CSi (r=0.39. p<0.005). El ajuste por covariables mantuvo las asociaciones. Los genotipos UGT1A1 se asociaron fuertemente con bilirrubina sérica, pero no mostraron asociación significativa con índices de sensibilidad a la insulina. CONCLUSIÓN: Los niveles circulantes de bilirrubina se asocian directamente con una mayor sensibilidad a la insulina en mujeres normóglicémicas. A pesar de la fuerte asociación encontrada entre los genotipos UGT1A1 y bilirrubina sérica, no se evidenció una asociación entre las variantes de este gen con índices de insulínica.
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    Association of single-nucleotide polymorphisms in IL28B, but not TNF-alpha, with severity of disease caused by andes virus
    (2015) Angulo, Jenniffer; Pino, Karla; Echeverria-Chagas, Natalia; Marco, Claudia; Martinez-Valdebenito, Constanza; Galeno, Héctor; Villagra, Eliecer; Vera, Lilian; Lagos, Natalia; Miquel P., Juan Francisco
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    Bile acid synthesis is increased in Chilean Hispanics with gallstones and in gallstone high-risk Mapuche Indians
    (2004) Gälman, Cecilia; Miquel P., Juan Francisco; Pérez Ayuso, Rosa María; Einarsson, Curt; Stahle, Lars; Marshall Rivera, Guillermo; Nervi, Flavio; Rudling, Mats
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    Bile acids synthesis decreases after laparoscopic sleeve gastrectomy
    (2016) Escalona, Alex; Muñoz, R.; Irribarra Pastenes, Verónica; Solari Gajardo, Sandra; Allende, Fidel; Miquel P., Juan Francisco
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    Cobertura de la estrategia de prevención del cáncer de vesícula biliar en Chile: resultados de la Encuesta Nacional de Salud 2009-2010
    (2015) Latorre, S.; Ivanovic, D.; Corsi, O.; Valdivia Cabrera, Gonzalo; Margozzini Maira, Paula; Olea Ortega, Ricardo Alonso; Chianale Bertolini, José Luis; Miquel P., Juan Francisco
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    Cobertura de la estrategia preventiva de cáncer gástrico en Chile: resultados de la Encuesta Nacional de Salud 2009-2010
    (2015) Latorre, G.; Alvarez, J.; Ivanovic, D.; Valdivia Cabrera, Gonzalo; Margozzini Maira, Paula; Chianale Bertolini, José Luis; Miquel P., Juan Francisco
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    Concordance between Lactose Quick Test, hydrogen-methane breath test and genotyping for the diagnosis of lactose malabsorption in children
    (2018) Rojo, C.; Jaime, F.; Azocar, L.; Hernandez, C.; Villagran, Andrea; Miquel P., Juan Francisco; Arancibia Hernández, Gloria Cecilia
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    Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: a pooled analysis of 1018 population-based measurement studies with 88.6 million participants
    (2018) Zhou, Bin; Ferreccio Readi, Catterina; Margozzini Maira, Paula; Miquel P., Juan Francisco; Nervi, Flavio; Valdivia Cabrera, Gonzalo
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    Copy number variants in lipid metabolism genes are associated with gallstones disease in men
    (2020) Perez-Palma, E.; Bustos, B. I.; Lal, D.; Buch, S.; Azócar, L.; Toliat, M. R.; Lieb, W.; Franke, A.; Hinz, S.; Burmeister, G.; von Shonfels, W.; Schafmayer, C.; Ahnert, P.; Volzke, H.; Volker, U.; Homuth, G.; Lerch, M. M.; Puschel Illanes, Klaus; Gutiérrez Ilabaca, Rodrigo Antonio; Hampe, J.; Nurnberg, P.; Miquel P., Juan Francisco; De Ferrari, GV
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    Deficiency of Niemann-Pick C1 protein protects against diet-induced gallstone formation in mice
    (2010) Morales France, María Gabriela; Amigo Böker, Ludwig Peter; Balboa Castillo, Elisa Ivana; Acuña Aravena, Mariana Loreto; Castro, Juan; Molina, Héctor; Miquel P., Juan Francisco; Nervi, Flavio; Rigotti Rivera, Attilio; Zanlungo Matsuhiro, Silvana
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    Detection of high biliary and fecal viral loads in patients with chronic hepatitis C virus infection
    (2017) Monrroy Bravo, Hugo Alfonso; Angulo, J.; Pino, Karla; Labbé, P.; Miquel P., Juan Francisco; López Lastra, Marcelo Andrés; Soza, Alejandro
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    Effect of cholecystectomy on bile acid synthesis and circulating levels of fibroblast growth factor 19
    (2015) Barrera Martínez, Francisco José; Azocar, Lorena; Molina, Héctor; Schalper, Kurt A.; Ocares, Marcia; Liberona, Jessica; Villarroel del Pino, Luis A.; Pimentel Muller, Fernando; Perez Ayuso, Rosa Maria; Nervi, Flavio; Groen, Albert K.; Miquel P., Juan Francisco
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    Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis : a pooled analysis of 96 population-based studies with 331288 participants
    (2015) Danaei, G.; Fahimi, S.; Lu, Y.; Zhou, B.; Hajifathalian, K.; Ferreccio Readi, Catterina; Margozzini Maira, Paula; Miquel P., Juan Francisco; Nervi, Flavio; Valdivia Cabrera, Gonzalo; Di Cesare, M.; Lo, W.; Reis, B.; Cowan, M.; Shaw, J.; Bentham, J.; Lin, J.; Bixby, H.; Magliano, D.; Bovet, P.; Danaei, G.; Fahimi, S.; Lu, Y.; Zhou, B.; Hajifathalian, K.; Ferreccio Readi, Catterina; Margozzini Maira, Paula; Miquel P., Juan Francisco; Nervi, Flavio; Valdivia Cabrera, Gonzalo; Di Cesare, M.; Lo, W.; Reis, B.; Cowan, M.; Shaw, J.; Bentham, J.; Lin, J.; Bixby, H.; Magliano, D.; Bovet, P.
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    Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
    (2016) Acuna, M.; Martinez, P.; Moraga, C.; He, X.; Moraga, M.; Hunter, B.; Nuernberg, P.; Gutiérrez Ilabaca, Rodrigo Antonio; Gonzalez, M.; Schuchman, E.; Santos Martín, José Luis; Miquel P., Juan Francisco; Mabe, P.; Zanlungo Matsuhiro, Silvana