Person: Torre Fuentes, Laura
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First Name
Laura
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Torre Fuentes
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Universidad Complutense de Madrid
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Item Secuenciación masiva de exoma en Esclerosis Múltiple familiar(2022) Torre Fuentes, Laura; Matías-Guiu Guía, Jorge; Gómez Pinedo, Ulises; Matías-Guiu, JordiLa esclerosis múltiple (EM) es una enfermedad compleja y heterogénea que se caracteriza por la influencia de diferentes factores, como son genéticos, ambientales y epigenéticos. Gracias a los estudios realizados hasta la fecha se han identificado variantes genéticas y genes que están involucrados con el riesgo de desarrollar EM. Los estudios que han permitido conocer gran parte de la información genética conocida son los estudios de asociación del genoma completo (GWAS). La gran parte de las variantes de riesgo identificadas se encuentran en genes que pertenecen a vías de señalización relacionadas con la inmunidad. En concreto, muchos de las variantes y genes de interés pertenecen a vías de señalización relacionadas con la inmunidad innata. A pesar del éxito de los GWAS, estos estudios presentan diferentes sesgos que solo han permitido conocer una parte del componente genético de la enfermedad. La secuenciación completa de exoma (WES) es una técnica que permite profundizar en el conocimiento del componente genético de la EM mediante la secuenciación de la región codificante de todo el genoma...Item Antimicrobial Susceptibility and Resistance Mechanisms in Mannheimia haemolytica Isolates from Sheep at Slaughter(Animals, 2023) Álvarez Sánchez, Julio; Calderón Bernal, Johan M.; Torre Fuentes, Laura; Hernández, Marta; Pinto Jiménez, Chris E.; Domínguez Rodríguez, Lucas José; Fernández-Garayzábal Fernández, José Francisco; Vela Alonso, Ana Isabel; Cid Vázquez, María DoloresMannheimia haemolytica is the main pathogen contributing to pneumonic pasteurellosis in sheep. The aim of this study was to investigate the antimicrobial resistance levels in M. haemolytica isolates from the lungs of slaughtered sheep and to examine the genetic resistance mechanisms involved. A total of 256 M. haemolytica isolates, 169 from lungs with pneumonic lesions and 87 from lungs without lesions, were analyzed by the disk diffusion method for 12 antimicrobials, and the whole genome of 14 isolates was sequenced to identify antimicrobial resistance determinants. Levels of phenotypic resistance ranged from <2% for 10 antimicrobials (amoxicillin, amoxicillin-clavulanic, ceftiofur, cefquinome, lincomycin/spectinomycin, gentamicin, erythromycin, florfenicol, enrofloxacin, and doxycycline) to 4.3% for tetracycline and 89.1% for tylosin. Six isolates carried tetH genes and four isolates carried, in addition, the strA and sul2 genes in putative plasmid sequences. No mutations associated with macrolide resistance were identified in 23 rDNA sequences, suggesting that the M. haemolytica phenotypic results for tylosin should be interpreted with care in the absence of well-established epidemiological and clinical breakpoints. The identification of strains phenotypically resistant to tetracycline and of several resistance genes, some of which were present in plasmids, highlights the need for continuous monitoring of susceptibility patterns in Pasteurellaceae isolates from livestock.Item Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis(Neurología, 2022) Gomez Pinedo, U.; Matías Guiu, J. A.; Torre Fuentes, Laura; Montero Escribano, P.; Hernández Lorenzo, Laura; Pytel, V.; Maietta, P.; Álvarez de Andrés, Sara; Sanclemente Alamán, I.; Moreno Jimenez; D. Ojeda-Hernandez; N. Villar-Gómez; M.S. Benito-Martin; B. Selma-Calvo; L. Vidorreta-Ballesteros; R. Madrid; J. Matías-Guiu; Madrid González, Ricardo; Matías-Guiu Guía, JorgeGenomic studies have identified numerous genetic variants associated with sus-ceptibility to multiple sclerosis (MS); however, each one explains only a small percentage of therisk of developing the disease. These variants are located in genes involved in specific path-ways, which supports the hypothesis that the risk of developing MS may be linked to alterationsin these pathways, rather than in specific genes. We analyzed the role of the TNFRSF1A gene,which encodes one of the TNF- receptors involved in a signaling pathway previously linked toautoimmune disease.Methods: We included 138 individuals from 23 families including at least 2 members with MS,and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing.We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584(-g.6442643C > G, NM 001065.4:c.362 G > A, R92Q) by plasmid transfection into human oligo-dendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labelingwas used to locate the protein within cells. We also analyzed the ability of transfected HOGcells to proliferate and differentiate into oligodendrocytes.Item New insights into the pathogenesis and transmission of Brucella pinnipedialis: systemic infection in two bottlenose dolphins (Tursiops truncatus)(Microbiology Spectrum, 2023) Vargas Castro, Ignacio; Crespo Picazo, José Luis; Fayos, Manena; Jiménez Martínez, María De Los Ángeles; Torre Fuentes, Laura; Álvarez Sánchez, Julio; Moura, André E.; Hernández, Marta; Buendía Andrés, Aranzazu; Barroso Arévalo, Sandra; García-Seco Romero, María Teresa; Pérez Sancho, Marta; De Miguel, María Jesús; Andrés Barranco, Sara; Marco Cabedo, Vicente; Peñín Villahoz, Gaizka; Muñoz, Pilar María; Domínguez Rodríguez, Lucas José; García Párraga, Daniel; Sánchez-Vizcaíno Rodríguez, José ManuelThe emergence of Brucella infections in marine mammals is a growing concern. The present study reports two cases of systemic Brucella pinnipedialis infection detected in bottlenose dolphins (Tursiops truncatus) pair stranded together in the Cantabrian coast of Spain. Both animals showed systemic lesions associated with the Brucella infection, more severe in the younger dolphin, considered the likely offspring of the other individual. Real-time PCR, bacterial culture, and whole-genome sequencing were used to detect and characterize the Brucella strains involved in both dolphins. The phylogenetic analysis performed on the Brucella genomes retrieved revealed that the species involved was B. pinnipedialis (ST25). Both animals resulted seropositive in a commercial multispecies blocking ELISA but tested negative in the standard Rose Bengal test. To the best of our knowledge, this is the first report of a systemic infection resulting in various lesions associated with Brucella pinnipedialis (ST25) in two bottlenose dolphins. It is also the initial isolation of Brucella in the milk of a non-pregnant or non-aborting female cetacean likely stranded with its offspring. These findings provide new insights into the epidemiology and clinical impact of B. pinnipedialis infection in cetaceans and underscore the importance of continued diagnostic surveillance to gain better understanding of brucellosis effects and transmission in marine mammal populations.Item Salmonella in Coastal Birds in Chile: Detection of a Multidrug-Resistant S. Infantis Bearing the blaCTX-M−65 Gene in a pESI-Like Megaplasmid in Humboldt Penguins(Transboundary and Emerging Diseases, 2024) Wiederkehr Bruno, Clara María; Álvarez Sánchez, Julio; Torre Fuentes, Laura; Crespo López, Óscar I.; Calfucura, Paulina; Ugarte Ruiz, María; Toledo, Viviana; Lurz, Peter W. W.; Retamal, PatricioSalmonella enterica is one of the most important foodborne pathogens worldwide, and the emergence of multidrug resistance (MDR) clones can aggravate its public health importance. Wildlife species may act as reservoirs of these clones, but their role is not well understood. In this study, faecal samples from shorebirds, with a focus on the endangered Humboldt penguin (Spheniscus humboldti), collected from five sites in central Chile with different levels of anthropogenic pressure were analysed to characterize antimicrobial resistant S. enterica serovars. Overall, Salmonella was isolated from 22 of the 595 samples (3.7%), with positivity ranging between 1.6% and 9.5%, depending on the sampling site. Four of the Salmonella isolates were retrieved from Humboldt penguin samples (1.4% positive samples in this species). Serovars Infantis (nine isolates), Typhimurium (six), Goldcoast (four), and Enteritidis, Agona, and Give (one isolate each) were identified. Resistance levels were the highest for sulphamethoxazole (13/21 isolates with a non-wild-type phenotype), ciprofloxacin, tetracycline, and trimethoprim (11/21 each). Whole-genome sequencing performed on eight S. Infantis strains revealed that seven carried the plasmid replicon IncFIB (pN55391), indicating the presence of the pESI-like megaplasmid, harbouring resistance determinants to multiple antimicrobial classes as well as heavy metal, biocides, and virulence-related genes. Furthermore, five S. Infantis isolates that showed an ESBL phenotype carried the blaCTX-M−65 gene, three of which were detected in Humboldt penguin faeces. The finding of an international emerging S. Infantis clone in protected wildlife is of concern to environmental, animal, and public health specialists, supporting initiatives for an active surveillance of resistance and virulence traits in wildlife exposed to anthropogenic areas.