Sistema de Gestión del Conocimiento ANLIS MALBRÁN
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[Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]
No full textThe fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation
Use of whole genome sequencing for the molecular comparison of Neisseria gonorrhoeae isolates with decreased susceptibility to extended spectrum cephalosporins from two geographically different regions in America
No full textFil: Gianecini, Ricardo A. Public Health Ontario Laboratories, Toronto; Canada.Fil: Zittermann, Sandra. Public Health Ontario Laboratories, Toronto; Canada.Fil: Oviedo, Claudia . ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología; Argentina.Fil: Galas, Marcelo F. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas; Argentina.Fil: Ramon Pardo, Pilar. Pan American Health Organization/World Health Organization (PAHO/ WHO), Washington, DC; Estados Unidos.Fil: Allen, Vanessa G. Public Health Ontario Laboratories, Toronto; Canada.Fil: Galarza, Patricia G. Public Health Ontario Laboratories, Toronto; Canada.Fil: Melano, Roberto. Public Health Ontario Laboratories, Toronto; Canada.Neisseria gonorrhoeae isolates with reduced susceptibility or resistance to the recommended first-line antimicrobial therapy have been described in several countries. The purpose of this study was to use genome analyses to compare the molecular characteristics of N. gonorrhoeae isolates with decreased susceptibility to extended-spectrum cephalosporin (ESC) from Ontario, Canada, and Argentina
Multidrug-resistant Escherichia coli harbouring mcr-1 and blaCTX-M genes isolated from swine in Argentina
No full textFil: Faccone, Diego. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Moredo, Fabiana A. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Departamento de Microbiología; Argentina.Fil: Giacoboni, Gabriela. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Departamento de Microbiología; Argentina.Fil: Albornoz, Ezequiel. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Fil: Alarcón, Laura. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Cátedra de Medicina Porcina; Argentina.Fil: Nievas, Victorio F. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Departamento de Microbiología; Argentina.Fil: Corso, Alejandra. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Bacteriología. Servicio Antimicrobianos; Argentina.Multidrug-resistant Escherichia coli isolates recovered from food-producing animals are a global public-health concern, especially those with transferable mechanisms of antimicrobial resistance such as extended-spectrum β-lactamase (ESBL) and mcr-1 genes. Here we report for the first time E. coli recovered from diarrhoeic and healthy pigs harbouring blaCTX-M and/or mcr-1 from Argentinean farms
Multiple clones of metallo-β-lactamase-producing Acinetobacter ursingii in a children hospital from Argentina
No full textAcinetobacter spp. are opportunistic pathogens being A. baumannii the most frequently identified in nosocomial settings. A. ursingii was mainly described as causing bacteremia and outbreaks in neonatal intensive care units. Ten A. ursingii isolates were recovered from rectal swab screening for carbapenemase-producing bacteria between June 2013 and December 2015 from a children hospital in Argentina. All ten isolates were metallo-β-lactamase-producing, nine were positive for blaIMP-1 and one for blaNDM-1. IMP-positive isolates were also positive for blaOXA-58 gene. All isolates were susceptible to ciprofloxacin, colistin and minocycline, and nine were susceptible to ampicillin-sulbactam and gentamicin. Two A. ursingii displayed high level of resistance to aztreonam associated with blaCTX-M-15 in one isolate, and blaVEB-1 in the other. Eight SmaI-PFGE patterns were recognized. We evaluated the usefulness of Acinetobacter MLST-Pasteur scheme, to analyse A. ursingii isolates, however the rpoB gene was not amplified. A new set of primers were designed for specific amplification and sequencing, allowing the analysis of rpoB gene for this species. New alleles and the sequence types 748, 749, 750, 751, 993, 1186, 1187, and 1189 were included at the Acinetobacter MLST-Pasteur database. Those isolates showing related PFGE patterns were assigned to the same ST. To the best of our knowledge, this is the first report of MBL-producing A. ursingii in Argentina. The inclusion of A. ursingii species to the Acinetobacter MLST-Pasteur scheme allows deeper molecular characterization and a better understanding about the epidemiology of this germen
Trypanosoma cruzi Infection at the Maternal-Fetal Interface: Implications of Parasite Load in the Congenital Transmission and Challenges in the Diagnosis of Infected Newborns
No full textFil: Bustos, Patricia L. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Fil: Milduberger, Natalia. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Fil: Volta, Bibiana J. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Fil: Perrone, Alina E. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Fil: Laucella, Susana A. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Fil: Bua, Jacqueline. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Parasitología; Argentina.Trypanosoma cruzi is the protozoan unicellular parasite that causes Chagas disease. It can be transmitted from infected mothers to their babies via the connatal route, thus being able to perpetuate even in the absence of Triatomine insect vectors. Chagas disease was originally endemic in Central and South America, but migration of infected women of childbearing age has spread the T. cruzi congenital infection to non-endemic areas like North America, Europe, Japan, and Australia. Currently, 7 million people are affected by this infection worldwide. This review focuses on the relevance of the T. cruzi parasite levels in different aspects of the congenital T. cruzi infection such as the mother-to-child transmission rate, the maternal and fetal immune response, and its impact on the diagnosis of infected newborns. Improvements in detection of this parasite, with tools that can be easily adapted to be used in remote rural areas, will make the early diagnosis of infected children possible, allowing a prompt trypanocidal treatment and avoiding the current loss of opportunities for the diagnosis of 100% of T. cruzi congenitally infected infants
Shiga toxin 2 from enterohemorrhagic Escherichia coli induces reactive glial cells and neurovascular disarrangements including edema and lipid peroxidation in the murine brain hippocampus
No full textFil: Berdasco, Clara. Universidad de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Instituto de Fisiología y Biofísica ''Houssay" (IFIBIO), Laboratorio de Neurofisiopatología, Facultad de Medicina, Paraguay 2155 piso 7, 1121, Buenos Aires; Argentina.Fil: Pinto, Alipio. Universidad de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Instituto de Fisiología y Biofísica ''Houssay" (IFIBIO), Laboratorio de Neurofisiopatología, Facultad de Medicina, Paraguay 2155 piso 7, 1121, Buenos Aires; Argentina.Fil: Calabró, Valeria. Universidad de Buenos Aires, CONICET, Instituto de Bioquímica y Medicina Molecular (IBIMOL), Facultad de Farmacia y Bioquímica, Buenos Aires; Argentina.Fil: Arenas, David. Universidad de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Instituto de Fisiología y Biofísica ''Houssay" (IFIBIO), Laboratorio de Neurofisiopatología, Facultad de Medicina, Paraguay 2155 piso 7, 1121, Buenos Aires; Argentina.Fil: Cangelosi, Adriana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Control de Calidad de Biológicos; Argentina.Fil: Geoghegan, Patricia A. ANLIS Dr.C.G.Malbrán. Centro Nacional de Control de Calidad de Biológicos; Argentina..Fil: Evelson, Pablo. Universidad de Buenos Aires, CONICET, Instituto de Bioquímica y Medicina Molecular (IBIMOL), Facultad de Farmacia y Bioquímica, Buenos Aires, Argentina.Fil: Goldstein, Jorge. Universidad de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Instituto de Fisiología y Biofísica ''Houssay" (IFIBIO), Laboratorio de Neurofisiopatología, Facultad de Medicina, Paraguay 2155 piso 7, 1121, Buenos Aires; Argentina.Shiga toxin 2 from enterohemorrhagic Escherichia coli is the etiologic agent of bloody diarrhea, hemolytic uremic syndrome and derived encephalopathies that may result to death in patients. Being a Gram negative bacterium, lipopolysaccharide is also released. Particularly, the hippocampus has been found affected in patients intoxicated with Shiga toxin 2. In the current work, the deleterious effects of Shiga toxin 2 and lipopolysaccharide are investigated in detail in hippocampal cells for the first time in a translational murine model, providing conclusive evidences on how these toxins may damage in the observed clinic cases
Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina
Get PDFFil: Cerretini, R. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica Dr. Eduardo Castilla; Argentina.Fil: Mercado, G. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica Dr. Eduardo Castilla; Argentina.Fil: Morganstein, Josh. Women’s College Research InstituteWomen’s College Hospital; CanadaFil: Schiaffi, Jorge. Sección de Patología Mamaria. Servicio de Ginecología Hospital Bernardino Rivadavia; Buenos Aires; ArgentinaFil: Reynoso, M. Servicio de Ginecología. Hospital Evita de Lanús; Buenos Aires; ArgentinaFil: Montoya, D. Servicio de Patología Mamaria. Instituto de Oncología Dr. Angel H Roffo; Buenos Aires; ArgentinaFil: Valdez, R. Servicio de Genética. Hospital Militar Central; Buenos Aires; ArgentinaFil: Narod, SA. Dalla Lana School of Public Health. University of Toronto; Toronto; CanadáFil: Akbari, MR. Women’s College Research Institute. Women’s College Hospital; CanadaEach 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
Aesculus hippocastanum L. seed extract shows virucidal and antiviral activities against respiratory syncytial virus (RSV) and reduces lung inflammation in vivo
Get PDFFil: Salinas, Franco Maximiliano. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Laboratorio de virología; Argentina.Fil: Vázquez, Luciana. ANLIS Dr.C.G.Malbrán. Unidad Operativa Centro de Contención Biológica (UOCCB); Argentina.Fil: Gentilini, María Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET). Instituto de Medicina Traslacional, Trasplante y Bioingeniería (IMETTYB); Argentina.Fil: O Donohoe, Ailin. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Laboratorio de Biología de Anfibios-Histologia Animal; Argentina.Fil: Regueira, Eleonora. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Laboratorio de Biología de Anfibios-Histologia Animal; Argentina.Fil: Nabaes Jodar, Mercedes Soledad. Hospital de Niños "Ricardo Gutierrez". Laboratorio de virología; Argentina.Fil: Viegas, Mariana. Hospital de Niños "Ricardo Gutierrez". Laboratorio de virología; Argentina.Fil: Michelini, Flavia Mariana. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Laboratorio de virología; Argentina.Fil: Hermida, Gladys. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Laboratorio de Biología de Anfibios-Histologia Animal; Argentina.Fil: Alché, Laura Edith. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Laboratorio de virología; Argentina.Fil: Bueno, Carlos Alberto. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Laboratorio de virología; Argentina.Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract disease and bronchiolitis in children worldwide. No vaccine or specific, effective treatment is currently available. β-escin is one of the main bioactive constituents of Aesculus hippocastanum L. (Hippocastanaceae) seed extract (AH), and both β-escin and AH have demonstrated a beneficial role in clinical therapy because of their anti-edematous, anti-inflammatory and antioxidative effects. Besides, we have reported that β-escin and AH show virucidal, antiviral and immunomodulatory activities against the enveloped viruses HSV-1, VSV and Dengue virus in vitro. In this study, we demonstrate that β-escin and AH have virucidal and antiviral activities against RSV, as well as NF-κB, AP-1 and cytokine modulating activities in RSV infected epithelial and macrophage cell lines in vitro. Besides, in a murine model of pulmonary RSV infection, AH treatment improves the course of acute disease, evidenced by decreased weight loss, reduced RSV lung titers, and attenuated airway inflammation. In contrast, even though β-escin showed, similarly to AH, antiviral and immunomodulatory properties in vitro, it neither reduces viral titers nor attenuates lung injury in vivo. Thus, our data demonstrate that AH restrains RSV disease through antiviral and immunomodulatory effect
Phlebotominae in peri-domestic and forest environments inhabited by Alouatta caraya in northeastern Argentina
No full textFil: Martinez, Mariela F. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Medicina Tropical; Argentina.Fil: Santini, María Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Corrientes; Argentina.Fil: Kowalewski, Martín M. Museo Argentino de Ciencias Naturales B. Rivadavia. Estación Biológica Corrientes (EBCo), Corrientes; Argentina.Fil: Salomón, Oscar Daniel. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Medicina Tropical; Argentina.Multiple species of Phlebotominae are vectors of Leishmania (Protozoa: Trypanosomatidae), which causes visceral leishmaniasis (VL) and cutaneous leishmaniasis (CL). To describe the Phlebotominae (Diptera: Psychodidae) related to the environments of black and gold howler monkeys Alouatta caraya (Humbodlt, 1812) (Primates: Atelidae), potential vectors were sampled in different landscapes and vertical strata of sleeping trees. Phlebotomine captured between December 2011 and March 2012 (2365 individuals) belonged to eight species, of which Nyssomyia neivai (Pinto, 1926) (61.4%) and Migonemyia migonei (França, 1920) (18.73%) were the most abundant, and Ny. withmani was recorded for the first time in the Chaco province. In the 'peri-domestic' landscape, the phlebotomine were mainly captured in henhouses (78.7%), whereas the tree canopy in 'rural' and 'wild' landscapes yielded 31.2% and 29.1% of the phlebotomine, respectively. A significant association between the type of landscape and the species of phlebotomine was observed by multivariate analysis. Lutzomyia longipalpis (Lutz & Neiva, 1912) and Mg. migonei were associated with 'peri-domestic' landscape, and Ny. neivai was associated with the 'wild' landscape. The results of this prospective study suggest that the interaction between phlebotomine and A. caraya could be a key factor with respect to understanding the epidemiology of leishmaniasis
Influence of different storage conditions on the performance of spray-dried yogurt used as inoculum for milk fermentation
Get PDFFil: Bater, Caterina. Pontificia Universidad Católica Argentina. Facultad de Ingeniería y Ciencias Agrarias, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Santos, Mauricio. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas.Fil: Galmarini, Mara V. Pontificia Universidad Católica Argentina. Facultad de Ingeniería y Ciencias Agrarias, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Gómez-Zavaglia, Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Chirife, Jorge. Pontificia Universidad Católica Argentina. Facultad de Ingeniería y Ciencias Agrarias, Ciudad Autónoma de Buenos Aires; Argentina.A commercial drinkable yogurt with and without 4% of added trehalose (as cell protectant) was spray-dried obtaining a powder with low water activity (aw). Total bacterial count in the powder was between 8.48-8.90 log cfu/g. The dried yogurt was stored: (i) at 38 °C and aw = 0.33; (ii) at 38 °C in hermetically sealed flasks (aw = 0.21/0.22); (iii) in a cyclic temperature chamber (10-20 °C) in hermetically sealed flasks (aw = 0.21/0.22). Whole milk was then fermented by adding an inoculum of spray-dried yogurt after storage under these different conditions. The kinetics of acidification showed the presence of a lag time which was strongly dependent on storage conditions. The data was fitted with a logistic type equation from which the lag time was calculated. To evaluate structural differences among samples, Fourier Transform Infrared spectra (FTIR) were recorded. Partial Least Squares (PLS) models enabled a good correlation between lag time of fermentation and FTIR spectra. The lag time for yogurt powder stored at aw about 0.21/0.22 and cyclic temperature 10-20 °C remained approximately constant over the 12 weeks of storage, while all the other conditions resulted in a dramatic increase. The addition of trehalose had a small influence on lag time and, therefore, as a protectant of lactobacilli