Sistema de Gestión del Conocimiento ANLIS MALBRÁN
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Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina
No full textPurposeEach year, 17,000 new breast cancer cases are diagnosed in Argentina, and 5400 women die of breast cancer. The contribution of cancer-related mutations to the incidence of breast cancer in Argentina has not yet been explored.MethodsWe sequenced the entire coding regions of BRCA1, BRCA2, PALB2 and RAD51C in 112 unselected Argentinian breast cancer patients.ResultsA pathogenic genetic variant was found in 12 of 112 (10.7%) patients; two in BRCA1 (1.8%), five in BRCA2 (4.5%), four in PALB2 (3.6%) and one in RAD51C (0.9%). Three of four (75%) PALB2 mutation carriers carried the same variant (c.1653T > A).ConclusionsA founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina. BRCA1, BRCA2, PALB2 and RAD51C should be included in the genetic testing panel of breast cancer patients in Argentina
Optimization of DNA Extraction from Individual Sand Flies for PCR Amplification
No full textFil: Caligiuri, Lorena G. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Centro Regional de Estudios Genómicos; Argentina.Fil: Sandoval, Adolfo E. Municipalidad de Posadas. Secretaría de Calidad de Vida. Laboratorio de Vectores, Posadas, Misiones; Argentina.Fil: Miranda, Jose C. Fundação Oswaldo Cruz. Instituto Gonçalo Moniz, Salvador, Bahía; Brasil.Fil: Pessoa, Felipe A. Fundação Oswaldo Cruz. Instituto Leonidas e Maria Deane, Manaos, Amazonas; Brasil.Fil: Santini, María Soledad. ANLIS Dr.C.G.Malbrán. Centro Nacional de Diagnóstico e Investigación en Endemo Epidemias; Argentina.Fil: Salomón, Oscar Daniel. Ministerio de Salud de la Nación. Instituto Nacional de Medicina Tropical, Puerto Iguazú, Misiones; Argentina.Fil: Secundino, Nagila F. C. Fundação Oswaldo Cruz. René Rachou Research Institute. Laboratory of Medical Entomology; Minas Gerais; Brasil.Fil: McCarthy, Christina B. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Centro Regional de Estudios Genómicos; Argentina.Numerous protocols have been published for extracting DNA from phlebotomines. Nevertheless, their small size is generally an issue in terms of yield, efficiency, and purity, for large-scale individual sand fly DNA extractions when using traditional methods. Even though this can be circumvented with commercial kits, these are generally cost-prohibitive for developing countries. We encountered these limitations when analyzing field-collected Lutzomyia spp. by polymerase chain reaction (PCR) and, for this reason, we evaluated various modifications on a previously published protocol, the most significant of which was a different lysis buffer that contained Ca2+ (buffer TESCa). This ion protects proteinase K against autolysis, increases its thermal stability, and could have a regulatory function for its substrate-binding site. Individual sand fly DNA extraction success was confirmed by amplification reactions using internal control primers that amplify a fragment of the cacophony gene. To the best of our knowledge, this is the first time a lysis buffer containing Ca2+ has been reported for the extraction of DNA from sand flies
PCR-Based Method for Shigella flexneri Serotyping: International Multicenter Validation
Get PDFFil: Brengi, Silvina P. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Enterobacterias; Argentina.Fil: Sun, Qiangzheng. Chinese Center for Disease Control and Prevention. National Institute for Communicable Diseases Control and Prevention. State Key Laboratory for Infectious Disease Prevention and Control, Changping, Beijing; China.Fil: Bolaños, Hilda. Centro Nacional de Referencia de Bacteriología, Inciensa, Cartago; Costa Rica.Fil: Duarte, Francisco. Centro Nacional de Referencia de Bacteriología, Inciensa, Cartago; Costa Rica.Fil: Jenkins, Claire. Public Health England. Gastrointestinal Bacteria Reference Unit, Londres, Inglaterra.Fil: Pichel, Mariana. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Enterobacterias; Argentina.Fil: Shahnaij, Mohammad. International Center for Diarrheal Disease Research. Laboratory Sciences and Services Division. Enteric and Food Microbiology Laboratory Dhaka; Bangladés.Fil: Sowers, Evangeline G. Centers for Disease Control and Prevention. National Institute for Escherichia and Shigella Reference Unit, Atlanta, Georgia, Estados Unidos.Fil: Strockbine, Nancy. Centers for Disease Control and Prevention. National Institute for Escherichia and Shigella Reference Unit, Atlanta, Georgia, Estados Unidos.Fil: Talukder, Kaisar A. International Center for Diarrheal Disease Research. Laboratory Sciences and Services Division. Enteric and Food Microbiology Laboratory Dhaka; Bangladés.Fil: Derado, Gordana. Centers for Disease Control and Prevention. Biostatistics and Information Management Office. Waterborne and Environmental Diseases. Division of Foodborne, Atlanta, Georgia, Estados Unidos.Fil: Viñas, María R. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Enterobacterias; Argentina.Fil: Kam, Kai Man. The Chinese University of Hong Kong. Faculty of Medicine. School of Public Health and Primary Care. Stanley Ho Centre for Emerging Infectious Diseases, Hong Kong; China.Fil: Xu, Jianguo. Chinese Center for Disease Control and Prevention. National Institute for Communicable Diseases Control and Prevention. State Key Laboratory for Infectious Disease Prevention and Control, Changping, Beijing; China.Shigella spp. are a leading cause of human diarrheal disease worldwide, with Shigella flexneri being the most frequently isolated species in developing countries. This serogroup is presently classified into 19 serotypes worldwide. We report here a multicenter validation of a multiplex-PCR-based strategy previously developed by Q. Sun, R. Lan, Y. Wang, A. Zhao, et al. (J Clin Microbiol 49:3766-3770, 2011) for molecular serotyping of S. flexneri This study was performed by seven international laboratories, with a panel of 71 strains (researchers were blind to their identity) as well as 279 strains collected from each laboratory's own local culture collections. This collaborative work found a high extent of agreement among laboratories, calculated through interrater reliability (IRR) measures for the PCR test that proved its robustness. Agreement with the traditional method (serology) was also observed in all laboratories for 14 serotypes studied, while specific genetic events could be responsible for the discrepancies among methodologies in the other 5 serotypes, as determined by PCR product sequencing in most of the cases. This work provided an empirical framework that allowed the use of this molecular method to serotype S. flexneri and showed several advantages over the traditional method of serological typing. These advantages included overcoming the problem of availability of suitable antisera in testing laboratories as well as facilitating the analysis of multiple samples at the same time. The method is also less time-consuming for completion and easier to implement in routine laboratories. We recommend that this PCR be adopted, as it is a reliable diagnostic and characterization methodology that can be used globally for laboratory-based shigella surveillance
[Cross-sectional survey about the prevalence of allergic rhinitis in Argentina: Study PARA]
No full textThere are very few studies about the prevalence of allergic rhinitis in Argentina
Isolation of five Enterobacteriaceae species harbouring blaNDM-1 and mcr-1 plasmids from a single paediatric patient
Get PDFFil: Martino, Florencia. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; ArgentinFil: Tijet, Nathalie. Public Health Ontario Laboratories, Toronto, Ontario; Canadá.Fil: Melano, Roberto. Public Health Ontario Laboratories, Toronto, Ontario; Canadá.Fil: Petroni, Alejandro. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Heinz, E. The Welcome Trust Sanger Institute, Hinxton, Cambridge; Reino Unido.Fil: De Belder, Denise. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Faccone, Diego. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Rapoport, Melina J. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Biondi, Estefania. Hospital de Niños Dr. Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Rodrigo, Veronica. Hospital de Niños Dr. Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Vázquez, Miryam. Hospital de Niños Dr. Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Pasteran, Fernando. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Thomson, Nicholas R. The Welcome Trust Sanger Institute, Hinxton, Cambridge; Reino Unido.Fil: Corso, Alejandra. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Gomez, Sonia A. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.In Argentina, NDM metallo-β-lactamase was first reported in 2013. By now, it has disseminated throughout the country in diverse Gram negative bacteria. Here, we report the case of a paediatric patient that underwent a 1-year hospitalisation due to erythrodermic psoriasis in 2014 and received multiple antimicrobial treatments. During his stay, five isolates were obtained from rectal swabs (rs) or blood culture (bc) suspicious of carbapenemase production: a K. quasipneumoniae subsp. quasipneumoniae (rs), Citrobacter freundii (rs), Escherichia coli (bc), Enterobacter cloacae (rs), and a Serratia marcescens (bc). The isolates were studied with broth microdilution, biparental conjugation and plasmid and whole genome sequencing (Illumina). All isolates harboured an 138,998-bp type 1 IncC plasmid that carried blaNDM-1, bleMBL, blaCMY-6, rmtC, aac(6')-Ib, and sul1 resistance genes. Additionally, the blaNDM-plasmids contained ISKpn8 an insertion sequence previously described as associated only to blaKPC. One isolate, a colistin-resistant E. coli, also carried a mcr-1-containing an IncI2 plasmid, which did not harbour additional resistance. The whole genome of K. quasipneumoniae subsp. quasipneumoniae isolate was fully sequenced. This isolate harboured, additionally to blaNDM, three plasmid-mediated quinolone resistance genes: qnrB4, qnrB52 and aac(6')-Ib-cr1. The E. cloacae isolate also harboured qnrA1. These findings alert to the underestimated horizontal dissemination of multidrug-resistant plasmids limiting treatment options with last resort antimicrobials.
This research was funded by Agencia Nacional de Promoción Científica y Tecnológica - Fondo para la Investigación Científica y Tecnológica, PICT-2012-0145 to SAG. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Phylogeographic Analysis Reveals Multiple International transmission Events Have Driven the Global Emergence of Escherichia coli O157:H7
No full textFil: Franz, Eelco. National Institute for Public Health and the Environment. Centre for Infectious Disease Control; Países Bajos.Fil: Rotariu, Ovidiu. The University of Aberdeen. School of Biological Sciences; Gran Bretaña.Fil: Lopes, Bruno S. The University of Aberdeen. School of Medicine. Medical Sciences & Nutrition; Gran Bretaña.Fil: MacRae, Marion. The University of Aberdeen. School of Medicine. Medical Sciences & Nutrition; Gran Bretaña.Fil: Bono, James L. United States Department of Agriculture. Agricultural Research Service. US Meat Animal Research Center, Clay Center, Nebraska; Estados Unidos.Fil: Laing, Chad. Public Health Agency of Canada. National Microbiology Laboratory. Lethbridge, Alberta; Canadá.Fil: Gannon, Victor. Public Health Agency of Canada. National Microbiology Laboratory. Lethbridge, Alberta; Canadá.Fil: Söderlund, Robert. National Veterinary Institute, Upsala; Suecia.Fil: van Hoek, Angela H. A. M. National Institute for Public Health and the Environment. Centre for Infectious Disease Control; Países Bajos.Fil: Friesema, Ingrid. National Institute for Public Health and the Environment. Centre for Infectious Disease Control; Países Bajos.Fil: French, Nigel P. Massey University. School of Veterinary Science. Infectious Disease Research Centre. Molecular EpiLab, Palmerston North; Nueva Zelanda.Fil: George, Tessy. Massey University. School of Veterinary Science. Infectious Disease Research Centre. Molecular EpiLab, Palmerston North; Nueva Zelanda.Fil: Biggs, Patrick J. Massey University. School of Veterinary Science. Infectious Disease Research Centre. Molecular EpiLab, Palmerston North; Nueva Zelanda.Fil: Jaros, Patricia. Massey University. School of Veterinary Science. Infectious Disease Research Centre. Molecular EpiLab, Palmerston North; Nueva Zelanda.Fil: Rivas, Marta. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas; Argentina.Fil: Chinen, Isabel. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas; Argentina.Fil: Campos, Josefina. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas; Argentina.Fil: Jernberg, Cecilia. The Public Health Agency of Sweden. Department of Microbiology, Estocolmo; Suecia.Fil: Gobius, Kari. The Commonwealth Scientific and Industrial Research Organisation Agriculture and Food, Werribee, Victoria; Australia.Fil: Mellor, Glen E. The Commonwealth Scientific and Industrial Research Organisation Agriculture and Food, Werribee, Victoria; Australia.Fil: Chandry, P Scott. The Commonwealth Scientific and Industrial Research Organisation Agriculture and Food, Werribee, Victoria; Australia.Fil: Perez-Reche, Francisco. University of Aberdeen. SUPA, School of Natural and Computing Sciences. Institute of Complex Systems and Mathematical Biology; Gran Bretaña.Fil: Forbes, Ken J. The University of Aberdeen. School of Medicine. Medical Sciences & Nutrition; Gran Bretaña.Fil: Strachan, Norval J. C. The University of Aberdeen. School of Biological Sciences; Gran Bretaña.Background: Shiga toxin-producing Escherchia coli (STEC) O157:H7 is a zoonotic pathogen that causes numerous food and waterborne disease outbreaks. It is globally distributed, but its origin and the temporal sequence of its geographical spread are unknown.
Methods: We analyzed whole-genome sequencing data of 757 isolates from 4 continents, and performed a pan-genome analysis to identify the core genome and, from this, extracted single-nucleotide polymorphisms. A timed phylogeographic analysis was performed on a subset of the isolates to investigate its worldwide spread.
Results: The common ancestor of this set of isolates occurred around 1890 (1845-1925) and originated from the Netherlands. Phylogeographic analysis identified 34 major transmission events. The earliest were predominantly intercontinental, moving from Europe to Australia around 1937 (1909-1958), to the United States in 1941 (1921-1962), to Canada in 1960 (1943-1979), and from Australia to New Zealand in 1966 (1943-1982). This pre-dates the first reported human case of E. coli O157:H7, which was in 1975 from the United States.
Conclusions: Inter- and intra-continental transmission events have resulted in the current international distribution of E. coli O157:H7, and it is likely that these events were facilitated by animal movements (eg, Holstein Friesian cattle). These findings will inform policy on action that is crucial to reduce the further spread of E. coli O157:H7 and other (emerging) STEC strains globally
Guía de vigilancia epidemiológica y recomendaciones para la prevención y diagnóstico de las infecciones respiratorias agudas en Argentina
No full textFil: Basso, V. Ministerio de Salud y Desarrollo Social. Dirección Nacional de Maternidad, Infancia y Adolescencia; ArgentinaFil: Sapoznicoff, L. Ministerio de Salud y Desarrollo Social. Dirección Nacional de Maternidad, Infancia y Adolescencia; ArgentinaFil: Katz , N. Ministerio de Salud y Desarrollo Social. Dirección de Control de Enfermedades Inmunoprevenibles.; ArgentinaFil: Baumeister, Elsa. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento Virología; Argentina.Fil: Pontoriero, Andrea. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento Virología; Argentina.Fil: Fandiño , ME. Ministerio de Salud y Desarrollo Social. Dirección Nacional de
Epidemiología y Análisis de la Situación de Salud.; ArgentinaFil: Giovacchini , C. Ministerio de Salud y Desarrollo Social. Dirección Nacional de
Epidemiología y Análisis de la Situación de Salud.; ArgentinaEn este documento se presentan las recomendaciones para el año 2019 con relación a la vigilancia de
las infecciones respiratorias agudas (IRAs), recomendaciones de vacunación, diagnóstico etiológico,
uso de antivirales para Influenza e información a la población.
Contó con la participación de las áreas de la Secretaría de Gobierno de Salud de la Nación involucradas:
la Dirección Nacional de Epidemiología y Análisis de la Situación de Salud, la Dirección de Maternidad
e Infancia, el Laboratorio Nacional de Referencia de Virus Respiratorios del INEI-ANLIS y la Dirección
de Control de Enfermedades Inmunoprevenibles
[Cross-sectional survey about the prevalence of allergic rhinitis in Argentina: Study PARA]
No full textThere are very few studies about the prevalence of allergic rhinitis in Argentina
First inter-laboratory comparison of Echinococcus granulosus sensu lato diagnosis in Latin America
Get PDFTo compare the performance of polymerase chain reaction (PCR) and enzyme-linked immunosorbent assay (ELISA) tests for diagnosing Echinococcus granulosus in dog feces among national reference laboratories in Argentina, Chile, Peru, and Uruguay
