Browsing by Author "Miquel P., Juan Francisco"
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- ItemA 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.
- ItemAcceso 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
- ItemBile acids synthesis decreases after laparoscopic sleeve gastrectomy(2016) Escalona, Alex; Muñoz, R.; Irribarra Pastenes, Verónica; Solari Gajardo, Sandra; Allende, Fidel; Miquel P., Juan Francisco
- ItemCobertura 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
- ItemConcordance 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
- ItemDeficiency 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
- ItemDetection 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
- ItemGenetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus(2013) Von Kampen, Oliver; Buch, Stephan; Nothnagel, Michael; Azócar, Lorena; Molina, Héctor; Brosch, Mario; Erhart, Wiebke; Von Schöenfels, Witigo; Egberts, Jan; Seeger, Marcus; Miquel P., Juan Francisco; Puschel Illanes, Klaus
- ItemIsolation and Purification of Human Biliary Vesicles With Potent Cholesterol Nucleation-Promoting Activity(1992) Brandan, Enrique; Miquel P., Juan Francisco; Nervi, Flavio; Rigotti Rivera, Attilio
- ItemPortal vein thrombosis associated to primary thrombocythaemia. Report of two casesTrombosis de la vena porta asociada a trombocitosis esencial. Casos clínicos y revisión de la literatura(1996) Carvajal C., Sergio; Zapata L., Rodrigo; Bertín C. M., Pablo; Miquel P., Juan FranciscoLately, myeloprolipherative disorders are frequently reported as causes of portal vein thrombosis, probably due to the early detection of latent cases of this condition. We report two patients with portal vein thrombosis that presented with abdominal pain, nausea, vomiting and clinical consequences of portal hypertension such as variceal hemorrhage, splenomegaly and ascites. Diagnosis was made by a CAT scan in one patient and doppler ultrasound in the other. Both patients had high platelet counts and an essential thrombocytosis in the bone marrow.
- ItemRisk Factors and Pathogenesis of Cholesterol Gallstones: State of the Art(1999) Amigo, Ludwid; Zanlungo Matsuhiro, Silvana; Mendoza Vilches, Hegaly Lenny; Miquel P., Juan Francisco; Nervi, FlavioThe aim of this article is to present an update of selected aspects of the pathogenesis and risk factors of cholesterol gallstones, a highly prevalent Western disease. The etiology of cholesterol cholelithiasis is considered to be multifactorial, with interaction of genetic and environmental factors. Mechanisms of cholesterol lithogenesis include biliary cholesterol hypersecretion, supersaturation and crystallization, stone formation and growth, and bile stasis within the gallbladder. Each of these various steps could be under genetic control and/or be influenced through intermediate pathogenic steps linked to a variety of environmental factors.
- ItemThe inflammatory inception of gallbladder cancer(2016) Espinoza, Jaime A.; Bizama, Carolina; García Cañete, Patricia; Ferreccio Readi, Catterina; Javle, Milind; Miquel P., Juan Francisco; Koshiol, Jill; Roa Strauch, Juan Carlos Enrique
- ItemTotal Liver Fat Quantification Using Three-Dimensional Respiratory Self-Navigated MRI Sequence(2016) Arboleda, C.; Aguirre, D.; García, M.; Tejos Núñez, Cristián Andrés; Miquel P., Juan Francisco; Irarrázaval Mena, Pablo; Andía Kohnenkampf, Marcelo Edgardo; Uribe Arancibia, Sergio A.
- ItemTranscriptomic profiles reveal differences in zinc metabolism, inflammation, and tight junction proteins in duodenum from cholesterol gallstone subjects(2020) Riveras Hernández, Eleodoro Javier; Azócar, Lorena; Moyano, Tomás C.; Ocares, Marcia; Molina, Héctor; Romero, Diego; Roa Strauch, Juan Carlos Enrique; Valbuena Mora, José Rafael; Gutiérrez, Rodrigo A.; Miquel P., Juan FranciscoCholesterol Gallstone Disease (GSD) is a common multifactorial disorder characterized by crystallization and aggregation of biliary cholesterol in the gallbladder. The global prevalence of GSD is similar to 10-20% in the adult population but rises to 28% in Chile (17% among men and 30% among women). The small intestine may play a role in GSD pathogenesis, but the molecular mechanisms have not been clarified. Our aim was to identify the role of the small intestine in GSD pathogenesis. Duodenal biopsy samples were obtained from patients with GSD and healthy volunteers. GSD status was defined by abdominal ultrasonography. We performed a transcriptome study in a discovery cohort using Illumina HiSeq. 2500, and qPCR, immunohistochemistry and immunofluorescence were used to validate differentially expressed genes among additional case-control cohorts. 548 differentially expressed genes between GSD and control subjects were identified. Enriched biological processes related to cellular response to zinc, and immune and antimicrobial responses were observed in GSD patients. We validated lower transcript levels of metallothionein, NPC1L1 and tight junction genes and higher transcript levels of genes involved in immune and antimicrobial pathways in GSD patients. Interestingly, serum zinc and phytosterol to cholesterol precursor ratios were lower in GSD patients. A significant association was observed between serum zinc and phytosterol levels. Our results support a model where proximal small intestine plays a key role in GSD pathogenesis. Zinc supplementation, modulation of proximal microbiota and/or intestinal barrier may be novel targets for strategies to prevent GSD.
- ItemUso de compuestos derivados de 2-azetidinonas para la prevención o el tratamiento de la enfermedad litiasica de la vía biliar por cálculos de colesterol (Chile, concesión n° 49871)Miquel P., Juan Francisco; Nervi, Flavio; Rigotti Rivera, Attilio; Zanlungo Matsuhiro, Silvana