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1.
Front Oncol ; 13: 1199741, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37469403

RESUMEN

Background: Next-generation sequencing (NGS), including whole genome sequencing (WGS) and whole exome sequencing (WES), is increasingly being used for clinic care. While NGS data have the potential to be repurposed to support clinical pharmacogenomics (PGx), current computational approaches have not been widely validated using clinical data. In this study, we assessed the accuracy of the Aldy computational method to extract PGx genotypes from WGS and WES data for 14 and 13 major pharmacogenes, respectively. Methods: Germline DNA was isolated from whole blood samples collected for 264 patients seen at our institutional molecular solid tumor board. DNA was used for panel-based genotyping within our institutional Clinical Laboratory Improvement Amendments- (CLIA-) certified PGx laboratory. DNA was also sent to other CLIA-certified commercial laboratories for clinical WGS or WES. Aldy v3.3 and v4.4 were used to extract PGx genotypes from these NGS data, and results were compared to the panel-based genotyping reference standard that contained 45 star allele-defining variants within CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, G6PD, NUDT15, SLCO1B1, TPMT, and VKORC1. Results: Mean WGS read depth was >30x for all variant regions except for G6PD (average read depth was 29 reads), and mean WES read depth was >30x for all variant regions. For 94 patients with WGS, Aldy v3.3 diplotype calls were concordant with those from the genotyping reference standard in 99.5% of cases when excluding diplotypes with additional major star alleles not tested by targeted genotyping, ambiguous phasing, and CYP2D6 hybrid alleles. Aldy v3.3 identified 15 additional clinically actionable star alleles not covered by genotyping within CYP2B6, CYP2C19, DPYD, SLCO1B1, and NUDT15. Within the WGS cohort, Aldy v4.4 diplotype calls were concordant with those from genotyping in 99.7% of cases. When excluding patients with CYP2D6 copy number variation, all Aldy v4.4 diplotype calls except for one CYP3A4 diplotype call were concordant with genotyping for 161 patients in the WES cohort. Conclusion: Aldy v3.3 and v4.4 called diplotypes for major pharmacogenes from clinical WES and WGS data with >99% accuracy. These findings support the use of Aldy to repurpose clinical NGS data to inform clinical PGx.

2.
J Mol Diagn ; 24(10): 1079-1088, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35931342

RESUMEN

Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and NUDT15 variants included in clinical tests. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention-based Genetic Testing Reference Material (GeT-RM) coordination program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Institute for Medical Research, has characterized 19 DNA samples derived from Coriell cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using a variety of commercially available and laboratory developed tests and/or Sanger sequencing. Of the 12 samples characterized for TPMT, newly identified variants include TPMT∗2, ∗6, ∗12, ∗16, ∗21, ∗24, ∗32, ∗33, and ∗40; for the 7 NUDT15 reference material samples, newly identified variants are NUDT15∗2, ∗3, ∗4, ∗5, ∗6, and ∗9. In addition, a novel haplotype, TPMT∗46, was identified in this study. Preexisting data on an additional 11 Coriell samples, as well as some supplemental testing, were used to create comprehensive reference material panels for TPMT and NUDT15. These publicly available and well-characterized materials can be used to support the quality assurance and quality control programs of clinical laboratories performing clinical pharmacogenetic testing.


Asunto(s)
Pruebas Genéticas , Metiltransferasas/genética , Farmacogenética , Pirofosfatasas/genética , Alelos , ADN/genética , Haplotipos , Humanos
3.
Arch Oral Biol ; 133: 105299, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34735926

RESUMEN

OBJECTIVE: The aim was to evaluate the antibacterial and antibiofilm activity of natural (n-CNSL) and technical (t-CNSL) cashew nut shell liquid against streptococci and enterococci related to dental caries and chronic apical periodontitis, respectively. MATERIAL AND METHODS: Minimum inhibitory concentrations (MIC) and minimal bactericidal concentration (MBC) were determined to assess the antimicrobial effect of both CNSLs (n-CSNL and t-CNSL) against S. oralis ATCC 10557, S. sobrinus ATCC 6715, S. parasanguinis ATCC 903, S. mutans UA 159 and E. faecalis ATCC 19433. The antibiofilm activity was evaluated by total biomass quantification, colony forming unit (CFU) counting and scanning electron microscopy (SEM). Furthermore, cytotoxic effect of the substances was evaluated on L929 and HaCat cell lines by MTS assay. RESULTS: The n-CNSL and t-CNSL showed inhibitory and bactericidal effect against all strains tested in this study, with MIC and MBC values ranging from 1.5 to 25 µg/mL. Overall, both CNSLs showed significant reduction in biomass quantification and enumeration of biofilm-entrapped cells for the strains analyzed, in biofilm formation and preformed biofilms (p < 0.05). In biofilm inhibition assay, the t-CNSL and n-CNSL showed reduction in biomass and CFU number for all bacteria, except in cell viability of S. parasanguinis treated with t-CNSL (p > 0.05). Indeed, SEM images showed a reduction in the amount of biomass, bacterial cells and changes in cellular morphology of S. mutans. CONCLUSION: In conclusion, both substances showed effective antibacterial and antibiofilm activity against the strains used in the study, except in viability of S. parasanguinis cells treated with t-CNSL.


Asunto(s)
Anacardium , Antiinfecciosos , Caries Dental , Antibacterianos/farmacología , Biopelículas , Pruebas de Sensibilidad Microbiana , Nueces , Streptococcus mutans
4.
J Mol Diagn ; 23(8): 952-958, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34020041

RESUMEN

Pharmacogenetic testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other reference materials are currently available for many of the variants that are tested. The Association for Molecular Pathology Pharmacogenetic Work Group has published a series of papers recommending alleles for inclusion in clinical testing. Several of the alleles were not considered for tier 1 because of a lack of reference materials. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention-based Genetic Testing Reference Material (GeT-RM) program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Institute for Medical Research, has characterized 18 DNA samples derived from Coriell cell lines. DNA samples were distributed to five volunteer testing laboratories for genotyping using three commercially available and laboratory developed tests. Several tier 2 variants, including CYP2C9∗13, CYP2C19∗35, the CYP2C cluster variant (rs12777823), two variants in VKORC1 (rs61742245 and rs72547529) related to warfarin resistance, and two variants in GGCX (rs12714145 and rs11676382) related to clotting factor activation, were identified among these samples. These publicly available materials complement the pharmacogenetic reference materials previously characterized by the GeT-RM program and will support the quality assurance and quality control programs of clinical laboratories that perform pharmacogenetic testing.


Asunto(s)
Carboxiliasas/genética , Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2C9/genética , Sistema Enzimático del Citocromo P-450/genética , Farmacogenética , Variantes Farmacogenómicas , Vitamina K Epóxido Reductasas/genética , Alelos , Genotipo , Técnicas de Genotipaje , Humanos , Farmacogenética/métodos , Pruebas de Farmacogenómica
5.
Clin Transl Sci ; 14(2): 497-501, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32702149

RESUMEN

Patients in the pediatric intensive care unit are exposed to multiple medications and are at high risk for adverse drug reactions. Pharmacogenomic (PGx) testing could help decrease their risk of adverse reactions. Although whole blood is preferred for PGx testing, blood volume in this population is often limited. However, for patients on mechanical ventilation, tracheal secretions are abundant, frequently suctioned, and discarded. Thus, the aim of this pilot study was to determine if tracheal aspirates could be used as a source of human genomic DNA for PGx testing. We successfully extracted DNA from tracheal secretions of all 23 patients in the study. The samples were successfully genotyped for 10 clinically actionable single nucleotide variants across 3 cytochrome P450 genes (CYP2D6, CYP2C19, and CYP3A5). Using DNA from whole blood samples in 11 of the patients, we confirmed the accuracy of the genotyping with 100% concordance. Therefore, our results support the use of tracheal aspirates from mechanically ventilated children as an adequate biospecimen for clinical genetic testing.


Asunto(s)
Secreciones Corporales/química , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/prevención & control , Técnicas de Genotipaje/métodos , Pruebas de Farmacogenómica/métodos , Tráquea/metabolismo , Adolescente , Niño , ADN/análisis , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/genética , Estudios de Factibilidad , Femenino , Humanos , Lactante , Unidades de Cuidado Intensivo Pediátrico , Masculino , Variantes Farmacogenómicas , Proyectos Piloto , Respiración Artificial
6.
Ciênc. rural (Online) ; 51(4): e20200417, 2021. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1153884

RESUMEN

ABSTRACT: The efficiency of the disinfectants used in the milking management is fundamental to the success in the dairy activity, being a critical point to the control of mastitis. The objective was to evaluate the in vitro efficacy of iodine used in pre and post-dipping against coagulase negative Staphylococcus (CNS). Thus, 53 CNS isolates were studied for the action of the 1.0% disinfectant and their serial dilutions of 0.5%, 0.375% and 0.25%, in addition to two commercial presentations of iodine in concentrations of 0.5% and 0.25%. The rate of CNS inhibition achieved by iodine at 0.375%, 0.5% and 1.0% for 60 seconds, was 60.4%. In 30 seconds, iodine at 0.5% and 1.0% showed a microbial inhibition rate of 52.8% and 56.6%, respectively. The other protocols tested were less efficient. It is concluded that the greatest in vitro disinfectant activity for CNS was demonstrated by iodine at 0.375%, 0.5% and 1.0%, for 60 seconds. Microbial susceptibility tests should be carried out periodically, as well as health education practices and corrective training on the property, in order to ensure udder health and mastitis control.


RESUMO: A eficiência dos desinfetantes empregados no manejo de ordenha é fundamental no sucesso na atividade leiteira, sendo um ponto crítico ao controle da mastite. Objetivou-se avaliar a eficácia in vitro do iodo utilizado no pré e pós-dipping frente à Staphylococcus coagulase negativa (SCN). Foram estudados 53 isolados de SCN quanto à ação do desinfetante a 1,0% e suas diluições seriadas de 0,5%, 0,375% e 0,25%, além de duas apresentações comerciais nas concentrações de 0,5% e 0,25%. A taxa de inibição de SCN alcançada pelo iodo a 0,375%, 0,5% e 1,0% durante 60 segundos, foi de 60,4%. Em 30 segundos, o iodo a 0,5% e 1,0% apresentaram taxa de inibição microbiana de 52,8% e 56,6%, respectivamente. Os demais protocolos testados foram menos eficientes. Conclui-se que a maior atividade desinfetante in vitro para SCN foi demonstrada pelo iodo a 0,375%, 0,5% e 1,0%, durante 60 segundos. Testes de susceptibilidade microbiana devem ser realizados periodicamente, assim como práticas de educação em saúde e treinamentos corretivos na propriedade, visando garantir a saúde do úbere e o controle da mastite.

7.
An Acad Bras Cienc ; 92(4): e20200521, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33331447

RESUMEN

Copaiba oil is a natural product used by Amazonian populations and recognized for its medicinal properties because it has significant antimicrobial activity for several pathogenic microorganisms. The present work aimed to evaluate and characterize the effect of natural oil produced by copaiba - Copaifera multijuga against multiresistant isolates of bubaline mastitis. The nitrocefin test was performed with isolates of Staphylococcus aureus from bubaline mastitis, which were 100% positive for beta-lactamase enzyme detection. Minimum Bactericidal Concentration (MBC) of 25% to 3.12% was obtained for Enterococcus faecalis and Escherichia coli and 50% and 25% for S. aureus, but Klebsiella pneumoniae and Bacillus subtilis were resistant. MBC with 12.5% and 6.25% oil were obtained for most multiresistant bubaline mastitis isolates from the states of Pernambuco, Ceará, Bahia and Alagoas. The results demonstrated the great potential of using copaiba natural oil in the treatment of buffalo mastitis.


Asunto(s)
Antiinfecciosos , Fabaceae , Mastitis , Brasil , Femenino , Humanos , Mastitis/tratamiento farmacológico , Mastitis/veterinaria , Pruebas de Sensibilidad Microbiana , Staphylococcus aureus
8.
Drug Metab Dispos ; 48(3): 169-175, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31888882

RESUMEN

Chronic administration of efavirenz is associated with decreased serum bilirubin levels, probably through induction of UGT1A1 We assessed the impact of efavirenz monotherapy and UGT1A1 phenotypes on total, conjugated, and unconjugated serum bilirubin levels in healthy volunteers. Healthy volunteers were enrolled into a clinical study designed to address efavirenz pharmacokinetics, drug interactions, and pharmacogenetics. Volunteers received multiple oral doses (600 mg/day for 17 days) of efavirenz. Serum bilirubin levels were obtained at study entry and 1 week after completion of the study. DNA genotyping was performed for UGT1A1 [*80 (C>T), *6 (G>A), *28 (TA7), *36 (TA5), and *37 (TA8)] and for SLCO1B1 [*5 (521T>C) and *1b (388A>G] variants. Diplotype predicted phenotypes were classified as normal, intermediate, and slow metabolizers. Compared with bilirubin levels at screening, treatment with efavirenz significantly reduced total, conjugated, and unconjugated bilirubin. After stratification by UGT1A1 phenotypes, there was a significant decrease in total bilirubin among all phenotypes, conjugated bilirubin among intermediate metabolizers, and unconjugated bilirubin among normal and intermediate metabolizers. The data also show that UGT1A1 genotype predicts serum bilirubin levels at baseline, but this relationship is lost after efavirenz treatment. SLCO1B1 genotypes did not predict bilirubin levels at baseline or after efavirenz treatment. Our data suggest that efavirenz may alter bilirubin disposition mainly through induction of UGT1A1 metabolism and efflux through multidrug resistance-associated protein 2. SIGNIFICANCE STATEMENT: Efavirenz likely alters the pharmacokinetics of coadministered drugs, potentially causing lack of efficacy or increased adverse effects, as well as the disposition of endogenous compounds relevant in homeostasis through upregulation of UGT1A1 and multidrug resistance-associated protein 2. Measurement of unconjugated and conjugated bilirubin during new drug development may provide mechanistic understanding regarding enzyme and transporters modulated by the new drug.


Asunto(s)
Alquinos/farmacología , Benzoxazinas/farmacología , Bilirrubina/metabolismo , Ciclopropanos/farmacología , Glucuronosiltransferasa/genética , Transportador 1 de Anión Orgánico Específico del Hígado/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Femenino , Genotipo , Voluntarios Sanos , Humanos , Masculino , Persona de Mediana Edad , Proteína 2 Asociada a Resistencia a Múltiples Medicamentos , Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética , Fenotipo , Adulto Joven
9.
Hig. Aliment. (Online) ; 33(288/289): 72-76, abr.-maio 2019. ilus, tab
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1481898

RESUMEN

No Brasil, o controle da entrada de produtos de origem animal é responsabilidade do Ministério da Agricultura, Pecuária e Abastecimento (MAPA) que atua através do serviço da Vigilância Agropecuária Internacional (VIGIAGRO), presente nas barreiras sanitárias primárias do país. Sendo assim, objetivou-se explanar as atividades do Médico Veterinário na barreira sanitária em zona primária no Brasil. A coleta de dados foi obtida através do sistema de estatística (Agrostat) do MAPA. Com isso, conclui-se que a fiscalização exercida pelo profissional Médico Veterinário, na barreira sanitária em zona primária, nos Produtos de Origem Animal é de relevância socioeconômica significativa e imprescindível para a saúde única do país. Assim as atividades do VIGIAGRO garantem a qualidade e inocuidade dos alimentos consumidos diariamente pela população.


Asunto(s)
Humanos , Alimentos de Origen Animal , Fiscalización Sanitaria , Industria Agropecuaria , Veterinarios , Inocuidad de los Alimentos
10.
Hig. Aliment. (Online) ; 33(288/289): 2553-2557, abr.-maio 2019. tab
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1482259

RESUMEN

O queijo mussarela, tipo mais utilizado no Brasil em preparações culinárias especialmente por características como fatiamento e derretimento, está sujeito a contaminações microbiológicas durante todo o processo que o leva à mesa do consumidor. Diante disso, objetivou-se pesquisar Salmonella spp. e Listeria monocytogenes em queijo mussarela fatiado comercializado em hipermercados de Recife-PE. Foram analisadas quarenta e nove amostras de queijo mussarela fatiado e todas foram negativas para os microrganismos pesquisados. Porém, observou-se Listeria innocuaem 4,1% das amostras (2/49). Estes resultados sugerem provável falha de higienização no local de fatiamento ou embalagem do produto, sendo necessárias ações que garantam a inocuidade dos alimentos ofertados ao consumidor, de forma a não pôr em risco a saúde pública.


Asunto(s)
Listeria monocytogenes/aislamiento & purificación , Listeria monocytogenes/patogenicidad , Microbiología de Alimentos , Queso/análisis , Queso/microbiología , Salmonella/aislamiento & purificación , Salmonella/patogenicidad , Higiene Alimentaria
11.
Hig. Aliment. (Online) ; 33(288/289): 2558-2562, abr.-maio 2019.
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1482260

RESUMEN

A carne moída é um derivado da carne bovina bastante consumido, porém algumas situações podem propiciar sua contaminação por microrganismos patogênicos. Desta forma, representa risco para a ocorrência de doenças transmitidas por alimentos, como a salmonelose. Objetivou-se pesquisar Salmonella spp. em carne bovina moída comercializada em um mercado público de Recife-PE. Foram adquiridas em duas etapas 20 amostras de carne bovina moída e estas foram transportadas em caixas isotérmicas até o laboratório onde seguiram-se as análises. Observou-se ausência de Salmonella spp., estando todas as amostras de acordo com a legislação brasileira. Estes resultados não excluem a necessidade de constante monitoramento destes microrganismos nos produtos cárneos, visando o fornecimento de alimentos que não sejam prejudiciais à saúde dos consumidores.


Asunto(s)
Microbiología de Alimentos , Productos de la Carne/microbiología , Salmonella
12.
Hig. Aliment. (Online) ; 33(288/289): 1878-1882, abr.-maio 2019. tab
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1482424

RESUMEN

Espécies de Staphylococcus coagulase negativa também são encontradas como contaminantes em alimentos de origem animal. Este estudo teve como objetivo identificar espécies do grupo Staphylococcus coagulase negativa, isoladas de queijos Mussarela fatiados e fatiadores de frios. Foram identificadas nove espécies bacterianas, sendo as mais frequentes: Staphylococcus (S.) saprophyticus, representando 25,9% dos isolados, S. xylosus 18,4% e S. cohnii subsp. urealyticum 12,6%. As demais espécies identificadas foram: S. epidermidis, S. warneri, S. captis subsp. ureolyticus, S. chromogenes, S. caprae e S. simulans. É necessário salientar a importância das Boas Práticas de Manipulação e Higienização dos equipamentos fracionadores de queijo Mussarela, a fim de diminuir o risco de intoxicações alimentares causadas por microrganismos desse grupo.


Asunto(s)
Microbiología de Alimentos , Queso/microbiología , Staphylococcus/clasificación , Staphylococcus/aislamiento & purificación , Contaminación de Alimentos , Contaminación de Equipos
13.
Hig. Aliment. (Online) ; 33(288/289): 2013-2017, abr.-maio 2019. tab, ilus
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1482452

RESUMEN

Biofilme é uma comunidade organizada de microrganismos que se forma em superfícies mal higienizadas, constituindo um mecanismo de defesa microbiana para permanência no ambiente. O objetivo do presente estudo foi investigar a capacidade de formação de biofilme de espécies de Staphylococcus coagulase negativa (SCN) isoladas de queijo Mussarela fatiado e de fatiadores de frios de estabelecimentos do município de Garanhuns-PE. De 103 isolados de SCN 56 (54,4%) foram negativos para produção de biofilme e 47 (45,6%) positivos, com a maior frequência de detecção nas espécies S. saprophyticus e S. cohnii subsp. urealyticum. Os resultados apontam para o potencial risco de contaminação cruzada de outros alimentos, uma vez que cepas bacterianas produtoras de biofilmes podem colonizar e persistir em superfícies de diversos equipamentos.


Asunto(s)
Biopelículas , Contaminación de Alimentos , Contaminación de Equipos , Queso/microbiología , Staphylococcus/fisiología , Staphylococcus/aislamiento & purificación , Equipos para Alimentos , Microbiología de Alimentos
14.
J Mol Diagn ; 21(3): 491-502, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30794985

RESUMEN

The Clinical Laboratory Improvement Amendments of 1988 require that pharmacogenetic genotyping methods need to be established according to technical standards and laboratory practice guidelines before testing can be offered to patients. Testing methods for variants in ABCB1, CBR3, COMT, CYP3A7, C8ORF34, FCGR2A, FCGR3A, HAS3, NT5C2, NUDT15, SBF2, SEMA3C, SLC16A5, SLC28A3, SOD2, TLR4, and TPMT were validated in a Clinical Laboratory Improvement Amendments-accredited laboratory. Because no known reference materials were available, existing DNA samples were used for the analytical validation studies. Pharmacogenetic testing methods developed here were shown to be accurate and 100% analytically sensitive and specific. Other Clinical Laboratory Improvement Amendments-accredited laboratories interested in offering pharmacogenetic testing for these genetic variants, related to genotype-guided therapy for oncology, could use these publicly available samples as reference materials when developing and validating new genetic tests or refining current assays.


Asunto(s)
Técnicas de Genotipaje/métodos , Mutación/genética , Neoplasias/genética , Neoplasias/terapia , Genotipo , Mutación de Línea Germinal/genética , Humanos , Sensibilidad y Especificidad
15.
Pharmacogenet Genomics ; 29(1): 18-22, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30489456

RESUMEN

Hypertension and chronic kidney disease are inextricably linked. Hypertension is a well-recognized contributor to chronic kidney disease progression and, in turn, renal disease potentiates hypertension. A generalized approach to drug selection and dosage has not proven effective in managing these conditions, in part, because patients with heterogeneous kidney disease and hypertension etiologies are frequently grouped according to functional or severity classifications. Genetic testing may serve as an important tool in the armamentarium of clinicians who embrace precision medicine. Increasing scientific evidence has supported the utilization of genomic information to select efficacious antihypertensive therapy and understand hereditary contributors to chronic kidney disease progression. Given the wide array of antihypertensive agents available and diversity of genetic renal disease predictors, a panel-based approach to genotyping may be an efficient and economic means of establishing an individualized blood pressure response profile for patients with various forms of chronic kidney disease and hypertension. In this manuscript, we discuss the validation process of a Clinical Laboratory Improvement Amendments-approved genetic test to relay information on 72 genetic variants associated with kidney disease progression and hypertension therapy. These genomic-based interventions, in addition to routine clinical data, may help inform physicians to provide personalized therapy.


Asunto(s)
Hipertensión/tratamiento farmacológico , Variantes Farmacogenómicas , Insuficiencia Renal Crónica/tratamiento farmacológico , Antihipertensivos/uso terapéutico , Técnicas de Genotipaje , Humanos , Hipertensión/genética , Atención Dirigida al Paciente , Medicina de Precisión , Insuficiencia Renal Crónica/genética
16.
Arq. Inst. Biol ; 86: e0652018, 2019.
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1046017

RESUMEN

The aim of this study was to investigate Listeria monocytogenes in ham sliced in supermarkets in Recife city, Pernambuco state. In total, 40 samples of sliced ham were collected, and 25 g of ham was added to 225 mL of Demi Fraser broth. After incubation, 0.1 mL was inoculated in Fraser broth and, subsequently, sown in supplemented Listeria Selective Agar, based on Otaviani and Agosti. The following tests were carried out for confirmation purposes: Gram stain, motility test, catalase test and cAMP test. There was L. monocytogenes in 25% (10/40) of the samples. The presence of L. monocytogenes in ready-to-eat food, such as sliced ham, is likely related to lack of proper equipment-cleaning in supermarkets, a fact that poses great risk to public health.(AU)


Objetivou-se com esse estudo realizar a pesquisa de Listeria monocytogenes em presuntos fatiados em supermercados da cidade de Recife, Pernambuco. Foram adquiridas 40 amostras de presuntos fatiados. Para o isolamento, foram utilizados 25 g do alimento para 225 mL do caldo Demi Fraser, após incubação, inoculou-se 0,1mL em caldo Fraser e posteriormente realizou-se a semeadura em Agar seletivo suplementado para Listeria de acordo com Otaviani e Agosti. Como testes confirmatórios, foram realizados a coloração de Gram, teste de motilidade, teste da catalase e teste de cAMP. Identificou-se a presença de L. monocytogenes em 25% (10/40) das amostras. A presença da L. monocytogenes em alimentos prontos para consumo, como o presunto fatiado, é de grande risco à saúde pública e pode estar relacionada à ocorrência de falhas na higienização dos equipamentos nos supermercados.(AU)


Asunto(s)
Humanos , Animales , Listeria , Productos de la Carne , Higiene Alimentaria , Inspección de Alimentos , Alimentos Industrializados
17.
Pesqui. vet. bras ; 38(11): 2029-2036, Nov. 2018. tab, ilus
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-976405

RESUMEN

The present study determined the frequency of Staphylococcus aureus virulence genes in 2,253 milk samples of cows (n=1000) and goats (n=1253) raised in three different geographical regions of the state Pernambuco, Brazil. The presence of genes of virulence factors associated to adhesion to host cells (fnbA, fnbB, clfA and clfB), toxinosis (sea, seb, sec, sed, seg, seh, sei, tsst, hla and hlb), and capsular polysaccharide (cap5 and cap8) was evaluated by PCR. A total of 123 and 27 S. aureus strains were isolated from cows' and goats' milk, respectively. The sec and tsst genes were detected exclusively in goats' isolates, while the seh gene was only identified in cows' isolates. The number of toxin genes per strain showed that goats' isolates are likely more toxic than bovines' isolates. The cap5 genotype predominated in both host species, especially in strains collected from cows raised in the Agreste region. The cap8 genotype is likely more virulent due to the number of virulence genes per strain. The results of the present study demonstrate that S. aureus may pose a potential threat to human health in Brazil, and, therefore, these results should support actions related to mastitis control programs.(AU)


O presente estudo determinou a frequência de genes de virulência de Staphylococcus aureus em 2253 amostras de leite, sendo de vacas n=1000 e de cabras n=1253, procedentes das três regiões geográficas do estado de Pernambuco, Brasil. A presença de genes de fatores de virulência associados à adesão às células hospedeiras (fnbA, fnbB, clfA e clfB), toxinosis (sea, seb, sec, sed, seg, seh, sei, tsst, hla e hlb) e polissacarídeo capsular (cap5 e cap8) foram avaliadas por PCR. Um total de 123 e 27 cepas de S. aureus foram isoladas do leite de vacas e cabras, respectivamente. Os genes sec e tsst foram detectados exclusivamente em isolados de cabras, enquanto o gene seh foi identificado apenas em isolados de vaca. O número de genes de toxina por cepa mostrou que os isolados de cabras são potencialmente mais tóxicos do que os isolados obtidos de bovinos. O genótipo cap5 predominou em ambas as espécies hospedeiras, especialmente em cepas coletadas de vacas criadas na região Agreste. O genótipo cap8 é potencialmente mais virulento devido ao número de genes de virulência por isolado. Os resultados do presente estudo demonstram que S. aureus pode representar uma ameaça potencial para a saúde humana no Brasil e, portanto, estes resultados devem subsidiar ações relacionadas aos programas de controle de mastite.(AU)


Asunto(s)
Animales , Femenino , Bovinos , Staphylococcus aureus/genética , Bovinos/microbiología , Cabras/microbiología , Mastitis/microbiología , Mastitis/epidemiología , Mastitis Bovina/microbiología , Mastitis Bovina/epidemiología , Virulencia , Industria Lechera , Leche/microbiología
18.
Genet Test Mol Biomarkers ; 22(11): 652-655, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30351207

RESUMEN

AIMS: To validate a laboratory-developed test for the nucleoside transporter, SLC28A3, which has been associated with an increased risk of anthracycline-induced cardiomyopathy. METHODS: We used Taqman® allele discrimination to test for two variants of the SLC28A3 gene: rs7853758 (c.1381C>T) and rs885004 (c.862-360C>T). RESULTS: During the validation process, we noted that several DNA samples obtained from the Coriell Cell Repository (Camden, NJ) were positive for both the c.1381 C > T and c.862-360C>T variants and another variant allele for either c.1381 C > T or c.862-360C>T (e.g., c.1381C>T homozygous/c.862-360C>T heterozygous, c.1381C>T homozygous/c.862-360C>T homozygous). We used de-identified DNA samples from trios of family members (mother, father, and child) to establish that the c.1381 C > T and c.862-360C>T variant alleles could be inherited in cis on the same chromosome. CONCLUSIONS: Samples containing three variant alleles suggest that the c.1381 C > T and c.862-360C>T are in cis on the chromosome in some individuals and may have implications when calculating anthracycline-induced cardiomyopathy risk. In this study, we confirm a novel haplotype of SLC28A3 using familial studies.


Asunto(s)
Técnicas de Genotipaje/métodos , Proteínas de Transporte de Membrana/genética , Alelos , Antraciclinas , Biomarcadores Farmacológicos/sangre , Cardiomiopatías/genética , ADN/genética , Femenino , Frecuencia de los Genes/genética , Haplotipos/genética , Humanos , Masculino , Proteínas de Transporte de Membrana/análisis , Polimorfismo de Nucleótido Simple , Factores de Riesgo
19.
Pesqui. vet. bras ; 37(7): 691-696, jul. 2017. tab, ilus, mapas
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-895474

RESUMEN

A capacidade de produção de toxinas pelo Staphylococcus aureus no leite e produtos derivados está relacionado com surtos de intoxicação alimentar. Objetivou-se nesta pesquisa, estudar a ocorrência de genes que codificam para enterotoxinas estafilocócicas (sea, seb, sed, seg, seh e sei) e toxinas α e ß hemolítica (hla e hlb) em S. aureus isolados de 53 amostras de leite de tanques expansão comunitários no Estado de Alagoas, Brasil. Foram identificados 27 isolados (50,94%) como S. aureus pela amplificação do gene nuc. 13/27 isolados (48,1%) foram positivos para pelo menos um gene das enterotoxinas estudadas, sendo as frequências dos genes sea 33,3%, seh 18,5%, sei 11,1% e sed 7,4%; não entanto não foram identificados os genes seb e seg nestas bactérias. Para as toxinas hemolíticas, 51,9% dos isolados portavam ambos genes (hla e hlb), sendo a frequência para o gene hla de 81,5% e para o gene hlb de 51,9%. A frequência de genes das toxinas avaliadas é alta o que constitui um risco potencial para a saúde pública em especial, as enterotoxinas por serem termoestáveis e estarem asssociados com surtos de intoxicação alimentar.(AU)


The capacity of toxin production by Staphylococcus aureus in milk and dairy products is associated with food poisoning outbreaks. The objective of this research was to study the frequency of genes encoding staphylococcal enterotoxin (sea, seb, sed, seg, seh and sei) and α and ß hemolytic toxins (hla and hlb) in S. aureus isolates from 53 milk samples from community tanks in the State of Alagoas, Brazil. Twenty-seven isolates (50.94%) were identified as S. aureus by nuc gene amplification; 13/27 isolates (48.1%) were positive for at least one gene of the studied enterotoxins and the frequency of genes sea was 33.3%, seh 18.5%, sei 11.1% and sed 7.4%; the seb and sec genes have not been identified in the bacteria. For the hemolytic toxins, 51.9% of isolates harbored both genes (hla and hlb), the frequency of hla gene was 81.5% and 51.9% for the hlb gene. The evaluated toxin-encoding gene frequency is high and constitutes a potential risk for public health, especially staphylococcal enterotoxin genes; because they are heat-stable enterotoxins and have been associated with food poisoning.(AU)


Asunto(s)
Staphylococcus aureus/genética , Superantígenos/genética , Leche/microbiología , Enterotoxinas , Reacción en Cadena de la Polimerasa/veterinaria
20.
Pesqui. vet. bras ; 36(7): 565-573, jul. 2016. tab, graf
Artículo en Portugués | LILACS, VETINDEX | ID: lil-794769

RESUMEN

A mastite é uma doença complexa e considerada uma das principais causas de perdas à indústria leiteira mundial. Objetivou-se com esta revisão compilar informações dos últimos dez anos sobre a mastite em ruminantes no Brasil. A prevalência da mastite subclínica chega a 48,64% na espécie bovina, 30,7% na espécie caprina, 31,45% na espécie ovina e 42,2% na espécie bubalina, destacando-se a etiologia por Staphylococcus spp. Os fatores de risco associados à ocorrência de mastite estão relacionados a problemas no saneamento ambiental e ao manejo dos animais. As bactérias isoladas do leite mastítico apresentam maior percentual de resistência a penicilina, ampicilina, amoxicilina e neomicina e a utilização de técnicas moleculares no diagnóstico dos agentes causadores de mastites no país, ainda é escassa o que dificulta a obtenção de um diagnóstico mais rápido, sensível e específico.(AU)


Mastitis is a complex disease and is considered one of the main causes of losses to the global dairy industry. The objective of this review was to compile information for the last ten years of mastitis in ruminants in Brazil. The prevalence of subclinical mastitis was 48.64% in cattle, 30.7% in goats, 31.45% in sheep and 42.2% in the buffalo species, with especial participation of Staphylococcus spp. in the etiology. Risk factors associated with the occurrence of mastitis were related to problems in environmental sanitation and handling of animals. The largest percentage of resistance of microorganisms to antimicrobials was for penicillin, ampicillin, amoxicillin and neomycin. The use of molecular tools for diagnosis of mastitis-causing agents in the country is still scarce, making it difficult to obtain a faster, sensitive and specific diagnosis.(AU)


Asunto(s)
Animales , Femenino , Bovinos , Brasil/epidemiología , Búfalos/microbiología , Mastitis Bovina/epidemiología , Mastitis Bovina/etiología , Mastitis/veterinaria , Ovinos/microbiología , Resistencia a la Ampicilina , Farmacorresistencia Microbiana , Resistencia a las Penicilinas , Rumiantes/microbiología
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