2,539 research outputs found

    Bronchobiliary fistula: a rare complication after biliodigestive surgery for bile duct injury

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    A bronchobiliary fistula (BBF) is an abnormal communication between the biliary and bronchial systems. It is a rare condition with an unclear etiology. The principal causes are hepatic hydatid cysts, obstructive and iatrogenic processes. Presenting symptoms are variable and range from productive cough to recurrent pneumonia. The finding of bilioptisis is patognomonic. This case report presented a 22-year-old female patient who underwent a Roux-en-Y hepaticojejunostomy (RYHJ) for a bile duct injury and who later on, developed a bronchobiliary fistula

    The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

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    INTRODUCTION AND OBJECTIVES: Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. Mutations in CSRP3 have been associated with HCM, but evidence supporting pathogenicity is inconclusive. In this study, we describe an HCM cohort with a missense variant in CSRP3 (p.Cys150Tyr) with supporting evidence for pathogenicity and a description of the associated phenotype. METHODS: CSRP3 was sequenced in 6456 index cases with a diagnosis of HCM and in 5012 probands with other cardiomyopathies. In addition, 3372 index cases with hereditary cardiovascular disorders other than cardiomyopathies (mainly channelopathies and aortopathies) were used as controls. RESULTS: The p.(Cys150Tyr) variant was identified in 11 unrelated individuals of the 6456 HCM probands, and it was not identified in patients with other cardiomyopathies (p < 0.0001) or in our control population (p < 0.0001). Ten of the index cases were heterozygous and one was homozygous. Homozygous had a more severe phenotype. Family screening identified 17 other carriers. Wild-type individuals showed no signs of disease. The mean age at diagnosis of affected individuals was 55 ± 13 years, and the mean left ventricular wall thickness was 18 ± 3 mm. The variant showed highly age-dependent penetrance. After a mean follow-up of 11 (±8) years, no adverse events were reported in any of the HCM patients. CONCLUSIONS: The p.(Cys150Tyr) variant in CSRP3 causes late-onset and low risk form of hypertrophic cardiomyopathy in heterozygous carriers

    Perfiles de poliparasitismo intestinal en una comunidad de la Amazonia colombiana

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    Introduction: Intestinal parasite infections and polyparasitism are highly prevalent in the most vulnerable populations of developing countries due to environmental, biological and social determinants common in the transmission of parasites. Children between 1 and 15 years of age are the most affected population.Objective: To describe the prevalence and profiles of intestinal polyparasitism in 1 to 15 year-old children from native communities in the Colombian Amazon region.Materials and methods: We used a non-probability sampling of 300 children between 1 and 15 years of age from several rural settlements and the main urban area of Puerto Nariño, Amazonas, Colombia, who participated voluntarily in the study. We obtained fecal samples that were analyzed by the direct method (0.85% saline solution-lugol) and the Kato-Katz technique. The most prevalent polyparasitism profiles were identified using Cohen’s kappa coefficient with a 95% confidence interval.Results: The prevalence of polyparasitism, defined as the presence of at least two intestinal pathogenic parasites, was 84% (95 % CI: 79.35-87.96). Polyparasitism by two or three of the following parasites: Ascaris lumbricoides, Trichuris trichiura, Blastocystis sp., Ancylostoma duodenale and Necator americanus from the Ancylostomatidae family, and Entamoeba histolytica, E. dispar and E. moshkovskii of the Entamoeba complex, had the highest prevalence.Conclusion: Several intestinal polyparasitism profiles were found, although in most cases fewer than six parasites were involved. Better prevalence estimations and identification of determinant factors will allow to priorize and direct resources to control these infections.Introducción. Las infecciones parasitarias y el poliparasitismo intestinal son muy prevalentes en las poblaciones más vulnerables de los países en desarrollo debido a la existencia de factores ambientales, biológicos y sociales determinantes en la transmisión de parásitos. La población entre uno y 15 años de edad es la más afectada por dicha situación.Objetivo. Describir las prevalencias y los perfiles del poliparasitismo intestinal en la población de uno a 15 años de edad de comunidades indígenas de la Amazonia colombiana.Materiales y métodos. Se hizo un muestreo no probabilístico de 300 niños entre uno y 15 años de edad, procedentes de varios asentamientos rurales y de la cabecera urbana de Puerto Nariño, Amazonas, quienes participaron voluntariamente en el estudio. Las muestras de materia fecal se analizaron mediante el método directo (solución salina al 0,85 % y lugol) y la técnica de Kato-Katz. Se determinaron los perfiles más prevalentes de poliparasitismo intestinal con el coeficiente kappa de Cohen y un intervalo de confianza de 95 %.Resultados. La prevalencia de poliparasitismo, definida como la presencia de, por lo menos, dos parásitos intestinales patógenos, fue de 84 % (IC95 %: 79,35-87,96). Los casos con presencia de dos o tres agentes incluyeron los parásitos Ascaris lumbricoides, Trichuris trichiura, Blastocystis sp., los ancilostomídeos Ancylostoma duodenale y Necator americanus, así como Entamoeba histolytica, E. dispar y E. moshkovskii del complejo Entamoeba, y fueron los de mayor prevalencia.Conclusión. Se encontraron varios perfiles de poliparasitismo intestinal, aunque la mayoría de los casos involucraron menos de seis especies. Una mejor estimación de la prevalencia y los factores determinantes del poliparasitismo intestinal permitirían priorizar y orientar los recursos para su control

    Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism

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    [Objective] To evaluate the taxonomic composition of the gut microbiome in gout patients with and without tophi formation, and predict bacterial functions that might have an impact on urate metabolism.[Methods] Hypervariable V3–V4 regions of the bacterial 16S rRNA gene from fecal samples of gout patients with and without tophi (n = 33 and n = 25, respectively) were sequenced and compared to fecal samples from 53 healthy controls. We explored predictive functional profiles using bioinformatics in order to identify differences in taxonomy and metabolic pathways. [Results] We identified a microbiome characterized by the lowest richness and a higher abundance of Phascolarctobacterium, Bacteroides, Akkermansia, and Ruminococcus_gnavus_group genera in patients with gout without tophi when compared to controls. The Proteobacteria phylum and the Escherichia-Shigella genus were more abundant in patients with tophaceous gout than in controls. Fold change analysis detected nine genera enriched in healthy controls compared to gout groups (Bifidobacterium, Butyricicoccus, Oscillobacter, Ruminococcaceae_UCG_010, Lachnospiraceae_ND2007_group, Haemophilus, Ruminococcus_1, Clostridium_sensu_stricto_1, and Ruminococcaceae_UGC_013). We found that the core microbiota of both gout groups shared Bacteroides caccae, Bacteroides stercoris ATCC 43183, and Bacteroides coprocola DSM 17136. These bacteria might perform functions linked to one-carbon metabolism, nucleotide binding, amino acid biosynthesis, and purine biosynthesis. Finally, we observed differences in key bacterial enzymes involved in urate synthesis, degradation, and elimination. [Conclusion] Our findings revealed that taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism.This study was supported by the Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra” and the Grant INF-2016-01-269675 from the Consejo Nacional de Ciencia y Tecnología (CONACYT)

    Impacto de la cirugía bariátrica en la microbiota intestinal y el metaboloma fecal

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    Resumen del trabajo presentado a la 14ª Reunión de la Red Española de Bacterias Lácticas (RedBAl), celebrada de forma telemática del 8 al 10 de Septiembre de 2021.Introducción: El tratamiento de la obesidad severa mediante cirugía bariátrica presenta la mejor relación efectividad/coste, siendo el sleeve gástrico (SG) y el bypass gástrico (BPG) las técnicas laparoscópicas más utilizadas. El BPG está recomendado en pacientes con mayor exceso de peso (IMC>50). Aunque se han descrito alteraciones en la microbiota intestinal (MI) en relación con la obesidad, existen pocos estudios en obesidad severa en los que se haya caracterizado este ecosistema y el metaboloma fecal. Objetivos: Evaluar el impacto de la dieta pre-operatoria y la técnica de cirugía bariátrica sobre la MI y el metaboloma fecal en obesidad severa. Sujetos y métodos: Se incluyeron 40 pacientes de cirugía bariátrica (14 SG y 26 BPG), se recogió información clínica de interés, así como muestras de heces a cuatro tiempos: 1)-basal, 2)-tras dieta preoperatoria, 3)-al mes y 4)- a los tres meses de la cirugía. Se determinó la composición de la MI mediante secuenciación del gen ARNr 16S y la concentración fecal de varios metabolitos (ácidos grasos de cadena corta-AGCC, aminoácidos y aminas biógenas-AB) mediante cromatografía de gases y líquida. Resultados: Se han detectado diferencias significativas en la composición de la MI de la muestra basal de los pacientes de BPG y de SG y cambios estadísticamente significativos en la composición de la MI y en el metaboloma fecal entre las cuatro muestras, existiendo un mayor impacto en el BPG. En el caso del patrón fecal de AGCC, ambas cirugías disminuyeron la concentración de los AGCC mayoritarios, aunque no hubo diferencias significativas entre ambas. La concentración fecal de aminoácidos transcurridos tres meses desde la operación fue en general inferior en el grupo de pacientes sometidos a BPG, mientras que la concentración de AB fue superior en comparación con los individuos operados mediante SG. Conclusiones: Los pacientes con obesidad severa e IMC>50 tienen una MI diferente, con mayor abundancia de Firmicutes. La cirugía bariátrica y la dieta preoperatoria asociada modifican la composición de la MI y el perfil de metabolitos fecales, siendo estos cambios más profundos cuando se utiliza la técnica de BPG, probablemente por la alteración anatómica del tránsito intestinal

    Charge separation relative to the reaction plane in Pb-Pb collisions at sNN=2.76\sqrt{s_{\rm NN}}= 2.76 TeV

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    Measurements of charge dependent azimuthal correlations with the ALICE detector at the LHC are reported for Pb-Pb collisions at sNN=2.76\sqrt{s_{\rm NN}} = 2.76 TeV. Two- and three-particle charge-dependent azimuthal correlations in the pseudo-rapidity range η<0.8|\eta| < 0.8 are presented as a function of the collision centrality, particle separation in pseudo-rapidity, and transverse momentum. A clear signal compatible with a charge-dependent separation relative to the reaction plane is observed, which shows little or no collision energy dependence when compared to measurements at RHIC energies. This provides a new insight for understanding the nature of the charge dependent azimuthal correlations observed at RHIC and LHC energies.Comment: 12 pages, 3 captioned figures, authors from page 2 to 6, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/286
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