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1.
An. Fac. Cienc. Méd. (Asunción) ; 54(3): 33-40, Dec. 2021.
Article in Spanish | LILACS | ID: biblio-1352903

ABSTRACT

El estado mutacional del KRAS ha sido considerado como biomarcador para tratamientos biológicos tras varios ensayos clínicos realizados en pacientes con cáncer colorrectal metastásico. Reportes recientes indican que las frecuencias de mutación del gen KRAS en pacientes con CCR de Asia, Europa y Latinoamérica están entre el 24%, 36% y 40%, respectivamente. Paraguay no cuenta con este tipo de informes, a pesar de registrar anualmente en promedio 75 nuevos casos de pacientes diagnosticados con CCR sólo en el Servicio de Cirugía General del Hospital Central del Instituto de Previsión Social (IPS). El presente trabajo ha implementado este análisis de rutina, prerrequisito obligatorio para la administración de fármacos basados en anticuerpos terapéuticos, y revelado una frecuencia de mutación del gen KRAS del 34% en pacientes paraguayos con CCR que acuden a los Servicios del Hospital Central del IPS


The mutational status of the KRAS has been consider as a biomarker for biological treatments after several clinical trials carried out in patient with metastatic colorectal cancer. Recent reports indicate that the KRAS gene mutation frequencies in CRC patients from Asia, Europe, and Latin America are between 24%, 36%, and 40%, respectively. Paraguay does not have this kind of reports, despite registering an average of 75 new cases of patients diagnosed with CRC per year only in the General Surgery Service of the "Central Hospital - Instituto de Prevision Social (IPS)". The present work has implemented this routine analysis, a mandatory prerequisite for the administration of drugs based on therapeutic antibodies and revealed a KRAS gene mutation frequency of 34% in Paraguayan patients with CRC who attend the IPS Central Hospital Services


Subject(s)
Colorectal Neoplasms , Mutation , Cross-Sectional Studies , Determination , Genes
2.
Rev. Ciênc. Méd. Biol. (Impr.) ; 20(3): 375-386, dez 20, 2021. tab, fig
Article in Portuguese | LILACS | ID: biblio-1354189

ABSTRACT

Introdução: o sistema RANKL (receptor-ativador do fator nuclear-ligante κB)/RANK (receptor ativador do NF-kB)/OPG (osteoprotegrina) Introdução: o sistema OPG (osteoprotegrina)/RANK (receptor ativador do NF-kB)/RANKL (receptor-ativador do fator nuclear-ligante κB) regula os processos fisiológicos e patológicos da remodelação óssea. Polimorfismos genéticos nos genes OPG, RANK e RANKL têm sido associados a doenças, em diferentes populações. Objetivo: Descrever a frequência e o potencial regulatório dos polimorfismos do sistema OPG, RANK e RANKL em uma população brasileira; avaliar o seu potencial como marcadores genéticos informativos de ancestralidade; comparar com patologias associadas em outras populações. Metodologia: neste estudo, 506 indivíduos adultos, participantes de uma coorte acometidos de asma e periodontite, tiveram o DNA genômico extraído e genotipado, utilizando-se a plataforma Illumina. As plataformas NCBI, RegulomeDB, Haploview 4.2 e rSNPBase foram consultadas e utilizadas para análises. Resultados e Discussão: os polimorfismos mais frequentes na população estudada foram o rs3102724 no gene OPG, com frequência de menor alelo (MAF) de 46%; o rs4941129 em RANK, MAF 50%; e o rs9525641 em RANKL, MAF 46%. Os rs3134063 (1f) em OPG, rs17069898 (1f) em RANK e rs2200287 (1d) em RANKL apresentaram maior impacto funcional. Em OPG e RANK, nove polimorfismos se caracterizaram como marcadores genéticos informativos de ancestralidade, com predomínio nas populações YRI (africanos) e CEU (europeus). Os nove polimorfismos, com função intrônica, apresentaram MAF entre 2 a 46% na população-alvo e foram associados a patologias do metabolismo ósseo em outras populações. Conclusão: polimorfismos dos genes estudados se mostraram frequentes na população estudada e tiveram seus alelos mais frequentes associados a doenças em populações ancestrais. Sugere-se que sejam realizados mais estudos.


Introduction: The OPG (osteoprotegerin)/ RANK (NF-kB activating receptor)/ RANKL (nuclear-binding factor κB receptor-activating system regulates the physiological and pathological processes of bone remodeling. Genetic polymorphisms (SNPs) in OPG, RANK and RANKL genes have been associated with diseases in different populations. Objective: Describe the regulatory frequency and potential of SNPs in OPG, RANK and RANKL in a Brazilian population; assess their potential as informative genetic markers of ancestry; compare with pathologies associated with these polymorphisms in other populations. Methods: in this study, 506 adult individuals, participating in a cohort involving asthma and periodontitis, had genomic DNA extracted and genotyped using the Illumina platform. The NCBI, RegulomeDB, Haploview 4.2 and rSNPBase platforms were consulted and used for analysis. Results and discussion: the most frequent polymorphisms in the studied population were the rs3102724 in the OPG gene, with the lowest allele frequency (MAF) of 46%; rs4941129 in RANK, MAF 50% and rs9525641 in RANKL, MAF 46%. The rs3134063 (1f) in OPG, rs17069898 (1f) in RANK and rs2200287 (1d) in RANKL, had greater functional impact. In OPG and RANK, 9 SNPs were characterized as informative genetic markers of ancestry, predominantly in YRI (African) and CEU (European) populations. These 9 SNPs, with intronic function, presented MAF between 2 and 46% in our population, and were associated with pathologies in bone metabolism in other populations. Conclusion: SNPs of the studied genes were found to be frequent in the studied population and had their most frequent alleles associated with diseases in ancestral populations. It is suggested that further studies be carried out


Subject(s)
Humans , Male , Female , Adult , Polymorphism, Genetic , RANK Ligand , Genes , Periodontitis , Asthma , Computer Simulation
3.
Rev. Ciênc. Méd. Biol. (Impr.) ; 20(3): 480-484, dez 20, 2021. fig
Article in Portuguese | LILACS | ID: biblio-1354354

ABSTRACT

Introdução: o gene TERT codifica a subunidade catalítica da telomerase responsável pelo alongamento dos telômeros no final dos cromossomos. Mutações na região promotora do gene TERT resultam em superexpressão da subunidade catalítica e promovem aumento da atividade da telomerase, fatos que levam ao aumento da incidência do câncer. No carcinoma anaplásico da tireoide, essas mutações são preditores de pior prognóstico e estão associadas a comportamento clínico agressivo, incluindo alta frequência de recidivas, metástases a distância e morte específica pela doença. Objetivo: relatar o caso de uma paciente idosa portadora de carcinoma anaplásico da tireoide, cujo teste de sequenciamento genético revelou a mutação do promotor TERT C228T. Caso clínico: mulher idosa, 66 anos, diagnosticada inicialmente com nódulo tireoidiano, o qual cresceu rapidamente em um curto período de tempo. Diante da suspeita de neoplasia maligna, a paciente foi submetida a tireoidectomia total, com realização de esvaziamento cervical. Os estudos anatomopatológico e imuno-histoquímico do tumor confirmaram o carcinoma. Estudos moleculares realizados a partir da tecnologia do sequenciamento de nova geração negaram a presença de fusões gênicas, porém detectaram a mutação TERT C228T. Discussão: a identificação da mutação no promotor TERT C288T reforça a hipótese de que mutações TERT são frequentes em tumores tireoidianos mais agressivos, como é o caso do carcinoma anaplásico da tireoide. Conclusão: os dados apresentados neste estudo reforçam a premissa de que mutações no promotor TERT são preditores de pior prognóstico e de comportamento clínico mais agressivo.


Introduction: the TERT gene encodes the catalytic telomerase subunit responsible for elongating telomeres at the end of chromosomes. Mutations in the promoter region of the TERT gene result in overexpression of the catalytic subunit and promote increased telomerase activity, facts that lead to an increased incidence of cancer. In anaplastic thyroid carcinoma, these mutations are predictors of worse prognosis and are associated with aggressive clinical behavior, including a high frequency of relapses, distant metastases, and diseasespecific death. Objective: to report the case of an elderly patient with anaplastic thyroid carcinoma, whose gene sequencing test revealed a TERT C228T promoter mutation. Case report: Elderly woman, 66 years old, initially diagnosed with a thyroid nodule, which grew rapidly in a short period of time. Given the suspicion of malignant neoplasm, the patient underwent total thyroidectomy, with neck dissection. The anatomopathological and immunohistochemical studies of the tumor confirmed the carcinoma. Molecular studies performed using next-generation sequencing technology denied the presence of gene fusions, but detected the TERT C228T mutation. Discussion: identification of the mutation in the TERT C288T promoter reinforces the hypothesis that TERT mutations are frequent in more aggressive thyroid tumors, such as anaplastic thyroid carcinoma. Conclusion: data presented in this study reinforce the premise that mutations in the TERT promoter are predictors of worse prognosis and more aggressive clinical behavior.


Subject(s)
Humans , Female , Aged , Thyroidectomy , Telomerase , Thyroid Carcinoma, Anaplastic , Mutation , Genes
4.
Rev. ecuat. pediatr ; 22(3): 1-7, 30 de diciembre del 2021.
Article in Spanish | LILACS | ID: biblio-1352458

ABSTRACT

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.


Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.


Subject(s)
Humans , Child, Preschool , Craniofacial Abnormalities , Heart Defects, Congenital , Noonan Syndrome , Congenital Abnormalities , Genes
5.
Biomédica (Bogotá) ; 41(supl.2): 180-187, oct. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1355769

ABSTRACT

Resumen | Introducción. La aparición de enterobacterias multirresistentes y productoras de betalactamasas de espectro extendido (BLEE) en pacientes de consulta externa con infecciones urinarias, representa un problema de salud pública en Perú. Objetivos. Caracterizar molecularmente enterobacterias multirresistentes aisladas de pacientes con diagnóstico de infección urinaria y procedentes de dos departamentos de la selva peruana. Materiales y métodos. Se hizo un estudio descriptivo, observacional y retrospectivo de 61 aislamientos de urocultivo procedentes de la selva peruana durante 2017 y 2018. Los perfiles de resistencia se identificaron utilizando el sistema automatizado MicroScan™ y para la detección de los genes blaTEM, blaCTX-M, blaSHV se empleó una reacción en cadena de la polimerasa (PCR) convencional. Resultados. Las enterobacterias positivas para BLEE más frecuentes por departamento fueron Escherichia coli en Madre de Dios (25 %, 10/40) y Ucayali (76,2 %, 16/21). En ambos departamentos, el gen blaCTX-Mfue el más frecuente (25/61; 41 %), seguido por blaTEM(15/61; 24,6 %) y blaSHV (10/61; 16,4 %). En el perfil de sensibilidad antimicrobiana, se detectó 72,6 % de resistencia contra ampicilina, 82,3 % contra cefalotina y 88,7 % contra nitrofurantoína. Conclusiones. El porcentaje de cepas de enterobacterias multirresistentes productoras de BLEE en ambos departamentos fue del 57,4 % y el gen bla CTX-M fue el más frecuente.


Abstract | Introduction. The emergence of multiresistant enterobacteria producing extended-spectrum beta-lactamase (ESBL) in outpatients with urinary tract infections represents a public health problem in Perú. Objectives. To characterize multiresistant enterobacteria isolated from patients diagnosed with urinary tract infection in two Peruvian jungle departments using molecular techniques. Materials and methods. We conducted a descriptive, observational, and retrospective study of 61 urine culture isolates from two departments in the Peruvian jungle during 2017-2018. Resistance profiles were identified using the MicroScan™ automated system and a conventional polymerase chain reaction (PCR) was used for the detection of blaCTX-M, blaTEMand blaSHV genes. Results. The most common positive ESBL enterobacteria for each department were Escherichia coli in Madre de Dios (10/40; 25%) and Ucayali (16/21; 76.2%). Gene blaCTX-Mwas the most prevalent in both departments (25/61; 41%), followed by blaTEM (15/61; 24.6%), and blaSHV (10/61; 16.4%). As for the antimicrobial susceptibility profile, we detected resistance levels of 72.6% for ampicillin, 82.3% for cephalothin, and 88.7% for nitrofurantoin. Conclusions. BLEE-producing multi-resistant enterobacteria strains in both departments were 57.4% and blaCTX-M was the most common gene.


Subject(s)
Drug Resistance, Microbial , Enterobacteriaceae , beta-Lactam Resistance , Genes
6.
Rev. cuba. med. trop ; 73(2): e503, 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1347482

ABSTRACT

Introdución: Las ß-lactamasas AmpC son enzimas con capacidad hidrolítica, pueden ser de tipo constitutivo o inducible. No existe un método estandarizado para su determinación fenotípica por normas internacionales; la detección de estas mediante el uso de la biología molecular podría ser una alternativa útil para vigilancia y control de la diseminación de clones circulantes en el entorno hospitalario. Objetivo: Determinar el fenotipo de resistencia y genes expresados en la producción de ß-lactamasas AmpC en bacilos gramnegativos de aislados clínicos en un centro hospitalario. Métodos: Estudio observacional, descriptivo y de corte transversal. Se seleccionaron 78 cepas bacterianas como portadoras de ß- lactamasas AmpC. Se les realizó prueba de aproximación de disco; a las cepas con resultado positivo se seleccionaron para extracción de ADN y PCR multiplex para detección de 6 familias genes AmpC. Se determinó la frecuencia por tipo de muestra, servicio y comparación con el perfil de susceptibilidad. Resultados: De las cepas seleccionadas con fenotipo AmpC, el 57,6 por ciento (45/78) se consideró caso confirmado ß-lactamasas AmpC por su positividad para la prueba confirmatoria. La técnica molecular utilizada confirmó en el 40 por ciento (18/45) la presencia de genes AmpC. Se obtuvo con mayor frecuencia el gen MIR n= 9 (20 por ciento), seguido de DHA n= 7 (15 por ciento). Conclusiones: La detección oportuna de genes que codifican para ß-lactamasas AmpC permite establecer estrategias para evitar la circulación mediada por plásmidos en hospitales, así como utilizar mejores opciones terapéuticas que no induzcan a otros mecanismos de resistencia(AU)


Introduction: AmpC ß--lactamases are enzymes with hydrolytic activity. They may be either constitutive or inducible. No standardized method is available for their phenotypical determination by international standards. Their detection by molecular biology could be a useful alternative for the surveillance and control of the spread of clones circulating in hospital environments. Objective: Determine the resistance phenotype and genes expressed in the production of AmpC ß-lactamases in Gram-negative bacilli from clinical isolates in a hospital. Methods: An observational descriptive cross-sectional study was conducted. A total 78 bacterial strains were selected as carriers of AmpC ß-lactamases. Disc approximation tests were performed. The strains testing positive were selected for DNA extraction and multiplex PCR for detection of six AmpC gene families. Determination was made of the frequency per sample type, service and comparison with the susceptibility profile. Results: Of the strains selected with AmpC phenotype, 57.6 percent (45/78) were considered to be AmpC β-lactamase confirmed cases, due to their positive confirmatory test. The molecular technique used confirmed the presence of AmpC genes in 40 percent (18/45) of the cases. The gene most commonly obtained was MIR n= 9 (20 percent), followed by DHA n= 7 (15 percent). Conclusions: Timely detection of genes encoding for AmpC ß-lactamases makes it possible to set up strategies to prevent plasmid-mediated circulation in hospitals, as well as apply better therapeutic options that do not induce other resistance mechanisms(AU)


Subject(s)
Humans , Male , Female , Drug Resistance, Microbial/drug effects , beta-Lactam Resistance/drug effects , Multiplex Polymerase Chain Reaction , Molecular Biology , Epidemiology, Descriptive , Cross-Sectional Studies , Genes/physiology
7.
Salud(i)ciencia (Impresa) ; 24(5): 238-244, mar.-abr. 2021. tab.
Article in Spanish | LILACS, BINACIS | ID: biblio-1283917

ABSTRACT

Se realizó una revisión narrativa sobre la genética del hipotiroidismo congénito (HC). Se utilizaron las bases de datos Medline/PubMed, LILACS-BIREME y SciELO. Se identificaron los estudios originales publicados entre 2000 y agosto de 2020. Las palabras clave utilizadas durante la búsqueda fueron las siguientes: "hipotiroidismo congénito (congenital hypothyroidism)", "genética (genetic)", "polimorfismos de nucleótido único (SNP) (single polymorphisms nucleotid)". Se revisaron 58 estudios originales que informan las bases moleculares del HC. Se ha definido el concepto básico del HC, así como las bases moleculares que están asociados con la aparición de dicho trastorno. La revisión de la literatura ha permitido identificar al menos 12 genes que codifican las proteínas, las cuales, al producirse mutaciones, están implicadas en el HC. De los 12 genes informados que desempeñan un papel importante en el HC, errores en 6 genes se han vinculado con el HC con disgenesia tiroidea, lo cual implica alteraciones en la morfogénesis de la glándula tiroides, mientras que mutaciones en otros 6 genes se han asociado con dishormonogénesis, que genera un bloqueo total o parcial de los procesos bioquímicos implicados en la síntesis y secreción de hormonas tiroideas. La prevalencia en Sudamérica varía aproximadamente desde 1 por cada 1170 hasta 1 por cada 8285 neonatos. El estudio de la genética molecular pone de manifiesto que, en el futuro, aportará datos importantes en cuanto a la identificación de nuevas mutaciones y asociaciones con fenotipos clínicos que podrían relacionarse con el HC, para, de esta manera, potenciar el diagnóstico y tratamiento


A narrative review was conducted on the genetics of congenital hypothyroidism. The Medline/PubMed, LILACS-BIREME, and SciELO databases were used. Original studies published between 2000 and August 2020 were identified. The keywords used during the search were as follows: "congenital hypothyroidism", "genetics", "polymorphisms SNPs". Fifty-eight original studies reviewing the molecular basis of congenital hypothyroidism were reviewed. The basic concept of congenital hypothyroidism has been defined as well as the molecular bases that are associated with the development of this disorder. The literature review has identified at least 12 genes encoding proteins that, when mutations occur, are involved in congenital hypothyroidism. Of the 12 genes reported to play an important role in congenital hypothyroidism, errors in 6 genes have been associated with congenital hypothyroidism with thyroid dysgenesis, which implies alterations in the morphogenesis of the thyroid gland. On the other hand, mutations in 6 other genes have been associated with dyshormonogenesis that generates a total or partial blockage of the biochemical processes involved in the synthesis and secretion of thyroid hormones. The prevalence in South America is reported to vary from approximately 1 per 1000 to 1 per 8000 newborns. The study of molecular genetics shows that in the future it will contribute to the identification of new mutations and associations with clinical phenotypes that could be related to congenital hypothyroidism, thus enhancing diagnosis and treatment


Subject(s)
Therapeutics , Thyroid Gland , Thyroid Hormones , Epidemiology , Congenital Hypothyroidism , Genes , Genetics , Databases, Bibliographic
8.
Cienc. tecnol. salud ; 8(1): 104-117, 2021. il 27 c
Article in Spanish | LILACS, LIGCSA, DIGIUSAC | ID: biblio-1352998

ABSTRACT

La autoinmunidad es la consecuencia de la pérdida de control y regulación de la respuesta inmune. Se re-porta que ocurre entre 5 y 9% de patologías a nivel mundial. A las enfermedades con esta anomalía se les denomina autoinmunes y se clasifican de acuerdo con el órgano o sistema afectado. Las reumáticas involucran al tejido conectivo y las articulaciones. Los factores asociados a su aparición incluyen: edad, género, medioam-biente y genéticos. La susceptibilidad genética indica la presencia de uno o varios genes asociados al desarrollo de determinada enfermedad, cuya expresión podría ser el producto de la migración, selección, recombinación y adaptación de genes entre las poblaciones, lo que explica la variación fenotípica y la expresión clínica resultan-te. Los estudios de asociación del genoma completo (GWAS por sus siglas en inglés) han permitido identificar múltiples genes involucrados con enfermedades reumáticas, destacan el lupus eritematoso sistémico y artritis reumatoide, asociadas con más de 60 alelos, y otras como la espondilitis anquilosante, en donde la asociación ha sido primordialmente con un gen y sus polimorfismos. Esta revisión tiene como objetivo informar el estado de la susceptibilidad determinada genéticamente para estas enfermedades y el impacto que tiene sobre la expresión clínica. Se realizó una búsqueda en PubMed y la base de datos de la biblioteca Cochrane, se incluyeron artículos relacionados con las palabras clave propuestas desde el 2000. La revisión identifica genes y la asociación con estas enfermedades, expone la diversidad existente y justifica continuar la búsqueda de genes en todas las poblaciones.


Autoimmunity is the consequence of the loss of control and regulation of the immune response. It is reported that between 5 and 9% of pathologies occur worldwide. Diseases with this abnormality are called autoimmune and are classified according to the organ or system affected. Rheumatic diseases involve connective tissue and joints. Factors associated with its appearance include age, gender, environment, and genetics. Genetic suscepti-bility indicates the presence of one or more genes associated with the development of a certain disease, whose expression could be the product of migration, selection, recombination and adaptation of genes between popu-lations, which explains the phenotypic variation and the resulting clinical expression. Genome wide association studies (GWAS) have allowed the identification of multiple genes involved with rheumatic diseases, including systemic lupus erythematosus and rheumatoid arthritis, associated with more than 60 alleles, and others such as ankylosing spondylitis, where the association has been primarily with a gene and its polymorphisms. This review aims to report the status of genetically determined susceptibility to these diseases and the impact it has on clinical expression. A search was carried out in PubMed and the Cochrane library database, articles related to the proposed keywords from the year 2000 were included. The review identifies genes and the association with these diseases, exposes the existing diversity and justifies continuing the search for genes in all populations.


Subject(s)
Humans , Arthritis, Rheumatoid/congenital , Arthritis, Rheumatoid/immunology , Genetic Research , Autoimmunity/immunology , Genetic Predisposition to Disease , Genome-Wide Association Study , Genes , Lupus Erythematosus, Systemic/congenital
9.
Rio de Janeiro; s.n; 2021. 117 p. ilus.
Thesis in Portuguese | LILACS | ID: biblio-1349190

ABSTRACT

Introdução: Os testes rápidos para diagnóstico de malária (RDTs) mais usados se baseiam na identificação do antígeno HRP2 de P. falciparum. O antígeno HRP3, também presente no P. falciparum é um análogo estrutural do antígeno HRP2 e por isso pode ter reação cruzada com o HRP2 nesses testes. O antígeno HRP2 é expresso pelo gene pfhrp2, enquanto o antígeno HRP3 é expresso pelo gene pfhrp3. São crescentes os estudos que relatam deleções naturais dos genes pfhrp2 e pfhrp3 em P. falciparum em diversos países endêmicos para malária, inclusive em países que fazem fronteira com o Brasil. No país foi descrita a presença de isolados mutantes circulando na região da Bacia do Rio Amazonas. A confirmação da presença de parasitos com essas deleções em áreas endêmicas do país é fundamental, visto que indivíduos infectados por P. falciparum com deleção dos genes pfhrp2/3 podem apresentar resultados falso negativo no RDT. O objetivo deste estudo foi investigar a prevalência de deleções dos genes pfhrp2/3 em amostras de pacientes infectados com P. falciparum de área endêmica de malária no Brasil no período de 2003 a 2016, e bem como identificar a população acometida e a diferenciação clínica entre indivíduos infectados por parasitos com deleção e parasitos sem deleção. Métodos: Foram analisadas amostras procedentes do biorrepositório do Laboratório de Doenças Parasitárias do Instituto Oswaldo Cruz coletadas no período de 2003 a 2016 no município de Barcelos (AM) de indivíduos sintomáticos e assintomáticos infectados por P. falciparum. O diagnóstico de Plasmodium spp. foi realizado através da detecção do gene 18S de rRNA por PCR. O controle de qualidade do DNA foi realizado pela amplificação de msp1 e msp2. A detecção dos genes pfhrp2 e pfhrp3 foi realizada de acordo com protocolos publicados e bem padronizados pela OMS. Resultados: Foram selecionadas 82 amostras, 28 amostras apresentaram deleção exclusiva do gene pfhrp2, 19, deleção exclusiva do gene pfhrp3 e 15 dupla deleção. Infecção assintomática ocorreu com mais frequência em indivíduos mais velhos e com grande número episódios prévios da doença. A chance de um indivíduo assintomático estar infectado por um parasito com dupla deleção foi maior do que entre os sintomáticos. Conclusão: A alta prevalência de parasitos com deleções de pfhrp2/3 encontrada no município de Barcelos é motivo de preocupação e mostram a necessidade de se implementar um programa de vigilância para monitorar e mapear deleções de pfhrp2/3 nesta área e em outros locais da região amazônica. O padrão clínico pode estar associado às deleções encontradas nos parasitos infectantes.


Introduction: The most used rapid tests for the diagnosis of malaria are based on the identification of the P. falciparum antigen HRP2. The HRP3 antigen, also present in P. falciparum, is a structural analogue of the HRP2 antigen and, therefore, may cross-react with HRP2 in these tests. The HRP2 antigen is expressed by the pfhrp2 gene, while the HRP3 antigen is expressed by the pfhrp3 gene. Studies reporting natural deletions of the pfhrp2 and pfhrp3 genes in P. falciparum are growing in several countries endemic for malaria, including countries bordering Brazil. In the country, the presence of mutant isolates circulating in the Amazon River Basin region has been described. Confirmation of the presence of parasites with these deletions in other endemic areas of the country is fundamental, since individuals infected with P. falciparum with deletion of the pfhrp2/3 genes can present false negative result in the RDT. The objective of this study was to investigate the deletions of the pfhrp2/3 genes in samples from patients infected with P. falciparum in an endemic area for malaria in Brazil from 2003 to 2016, in order to describe the prevalence of the gene (s) ( s) deleted in the studied endemic area; as well as to identify the affected population and the clinical differentiation between individuals infected by parasites with deletion and parasites without deletion. Methods: Samples from the biorepository of the Laboratory of Parasitic Diseases of the Oswaldo Cruz Institute collected from 2003 to 2016 in the municipality of Barcelos (AM) from symptomatic and asymptomatic individuals infected with P. falciparum were analyzed. The diagnosis of Plasmodium spp. was performed by detecting the 18S rRNA gene by PCR. DNA quality control was performed by amplifying msp1 and msp2. The detection of the pfhrp2 and pfhrp3 genes was carried out according to published protocols and well standardized by the WHO. Results: 82 samples were selected, 28 samples showed exclusive deletion of the pfhrp2 gene, 19, exclusive deletion of the pfhrp3 gene and 15 double deletion. Asymptomatic infection occurred more frequently in older individuals and with a large number of previous episodes of the disease. The chance of an asymptomatic individual being infected by a parasite with double deletion was greater than among symptomatic individuals. Conclusion: The high prevalence of parasites with deletions of fhrp2/3 found in the municipality of Barcelos is a cause for concern and shows the need to implement a surveillance program to monitor and map deletions of pfhrp2 / 3 in this area and elsewhere in the Amazon region. The clinical pattern may be associated with the deletions found in the infectious parasites.


Subject(s)
Parasitic Diseases , Plasmodium falciparum , Prevalence , Genes , Malaria , Antigens
10.
Pesqui. vet. bras ; 41: e06645, 2021. graf
Article in English | LILACS, VETINDEX | ID: biblio-1279538

ABSTRACT

Staphylococcus spp. plays a significant role in the etiology of bovine mastitis. Staphylococcus aureus is considered the most important species due to the high prevalence and the difficulty of in vivo treatment that is related to the expression of virulence factors and biofilm formation. This study aimed to detect the phenotypic expression of the biofilm formation in 20 S. aureus isolated from bovine mastitis and to evaluate the expression and regulation of genes involved in its production. MALDI-TOF and phenogenotypic identification assays were performed to characterize the isolates. The phenotypic biofilm production and the presence of icaA and icaD and bap genes were evaluated. The Agr system was typified (agr I, agr II, agr III and agr IV) and its regulator (agr RNAIII) was detected. Furtherly, Real-time PCR (qPCR) was performed at chosen times to quantify the expression of icaA, icaD and hld genes in three selected isolates. All 20 strains were biofilm producers and most presented icaA and icaD genes. Only one isolate presented the bap gene. The agr gene type II showed a prevalence of 70%. Transcriptional analysis revealed increased expression of ica genes at eight hours of growth. These results confirm that polysaccharides production mediated by the icaADBC operon genes is an essential mechanism to the biofilm formation and contributes to the early stages of bacterial growth.(AU)


Staphylococcus spp. desempenham um papel significativo na etiologia da mastite bovina. Staphylococcus aureus é considerada a espécie mais importante devido a alta prevalência e a dificuldade de tratamento in vivo que está relacionado à expressão dos fatores de virulência e formação de biofilme. Este estudo teve como objetivo detectar a expressão fenotípica da formação de biofilme em 20 cepas de S. aureus isoladas de mastite bovina e avaliar a expressão e regulação de genes envolvidos em sua produção. MALDI-TOF e ensaios de identificação fenogenotípica foram realizados para caracterizar os isolados. A produção fenotípica de biofilme e a presença dos genes icaA, icaD e bap foram avaliadas. O sistema Agr foi tipificado (agr I, agr II, agr III e agr IV) e seu regulador (agr RNAIII) foi detectado. Além disso, a PCR em tempo real (qPCR) foi realizada nos tempos determinados para quantificar a expressão dos genes icaA, icaD e hld em três isolados selecionados. Todas as 20 linhagens foram produtoras de biofilme e a maioria apresentava os genes icaA e icaD. Apenas um isolado apresentou o gene bap. O gene agr do tipo II mostrou uma prevalência de 70%. A análise transcricional revelou aumento da expressão de genes ica às oito horas de crescimento. Estes resultados confirmam que a produção de polissacarídeos mediada pelos genes do operon icaADBC é um mecanismo essencial para a formação do biofilme e contribui para os estágios iniciais do crescimento bacteriano.(AU)


Subject(s)
Animals , Cattle , Staphylococcus aureus , Biofilms , Genes , Mastitis, Bovine , Virulence Factors , Real-Time Polymerase Chain Reaction
11.
Braz. J. Vet. Res. Anim. Sci. (Online) ; 58: e173908, 2021. graf, tab
Article in English | LILACS, VETINDEX | ID: biblio-1344764

ABSTRACT

Pyometra has several immunological and molecular changes that are responsible for uterine inflammation and the disease may or may not have infections. This study aimed to isolate and identify bacteria in the uterine content of bitches with pyometra, to analyze the susceptibility profile to antibiotics, detect ß-lactamase enzyme production by phenotypic tests, and resistance genes to ß-lactams. Eighteen samples of uterine content were collected by aspiration puncture. The samples were inoculated in bacteriological media and identified by biochemical tests. Subsequently, antibiogram tests, screening for detection of ß-lactamases, and Real-Time PCR for detection of resistance genes was performed. Escherichia coli, Klebsiella spp., Enterobacter aerogenes, Citrobacter spp., Staphylococcus spp., and Streptococcus spp. were identified in the analyzed samples of uterine content. In the antibiogram test, 90.5% of the isolates showed resistance to at least one antibiotic, and of these, 36.8% were considered MDR, with three Staphylococcus spp., three E. coli, and one Klebsiellaspp. Concerning bacterial resistance to the groups of antibiotics tested, 38.1% of the isolates were resistant to at least one type of ß-lactam, 33.3% to tetracycline, 19.0% to aminoglycosides, and 14.3% to fluoroquinolones, macrolides, and trimethoprim-sulfamethoxazole. In the phenotypic test to detect ß-lactamase production, E. coli samples were negative and Klebsiella spp. was positive for the production of AmpC, which presented the blaCMY, blaSPM, and blaSIM genes. Bacteria that are resistant to antibiotics represent a great challenge and laboratory support is therefore essential, without which therapeutic success decreases and death may be inevitable.(AU)


A piometra apresenta diversas alterações imunológicas e moleculares que são responsáveis pela inflamação uterina, e a doença pode ser infecciosa ou não. O objetivo deste estudo foi isolar e identificar bactérias no conteúdo uterino de cadelas com piometra, analisar o perfil de suscetibilidade aos antibióticos, detectar a produção de enzimas ß-lactamase por testes fenotípicos e genes de resistência aos ß-lactâmicos. Dezoito amostras de conteúdo uterino foram coletadas por punção aspirativa. As amostras foram inoculadas em meio bacteriológico e identificadas por testes bioquímicos. Posteriormente, foram realizados testes de antibiograma, triagem para detecção de ß-lactamases e PCR em tempo real para detecção de genes de resistência. Escherichia coli, Klebsiella spp., Enterobacter aerogenes, Citrobacter spp., Staphylococcus spp. e Streptococcus spp. foram identificados nas amostras de conteúdo uterino analisadas. No teste de antibiograma, 90,5% dos isolados apresentaram resistência a pelo menos um antibiótico, e destes, 36,8% foram considerados MR, sendo três Staphylococcus spp., três E. coli e uma Klebsiella spp. Sobre a resistência bacteriana aos grupos de antibióticos testados, 38,1% dos isolados foram resistentes a pelo menos um tipo de ß-lactâmico, 33,3% à tetraciclina, 19,0% aos aminoglicosídeos e 14,3% às fluorquinolonas, macrolídeos e trimetoprim-sulfametoxazol. No teste fenotípico para detecção da produção de ß-lactamase, as amostras de E. coli foram negativas, e Klebsiella spp. foi positiva para a produção de AmpC, que apresentou os genes blaCMY, blaSPM e blaSIM. As bactérias resistentes aos antibióticos representam um grande desafio e, portanto, o suporte laboratorial é essencial, sem o qual o sucesso terapêutico diminui e a morte pode ser inevitável.(AU)


Subject(s)
Animals , Female , Dogs , Dogs/genetics , Dogs/microbiology , Pyometra/genetics , Genes , Anti-Bacterial Agents/isolation & purification
12.
Article in Chinese | WPRIM | ID: wpr-879517

ABSTRACT

OBJECTIVE@#To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.@*METHODS@#In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.@*RESULTS@#93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.@*CONCLUSION@#Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.


Subject(s)
China/epidemiology , DNA Mutational Analysis , Deafness/genetics , Follow-Up Studies , Genes/genetics , Genetic Testing/statistics & numerical data , Hearing/genetics , Hearing Tests/statistics & numerical data , Humans , Infant, Newborn , Mutation , Neonatal Screening
13.
Rev. med. Risaralda ; 26(2): 160-165, jul.-dic. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1150025

ABSTRACT

Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.


Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.


Subject(s)
Humans , Female , Child , Congenital Abnormalities , Ellis-Van Creveld Syndrome , Signs and Symptoms , Volition , Ectodermal Dysplasia , Molecular Diagnostic Techniques , Genes , Heart Defects, Congenital , Mutation
14.
Rev. Ciênc. Méd. Biol. (Impr.) ; 19(2): 292-297, set 24, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1358261

ABSTRACT

Introdução: a Síndrome do X Frágil (FXS) é a forma mais prevalente de deficiência intelectual herdável, e é a principal causa monogênica para o desenvolvimento de Transtorno de Espectro do Autismo (TEA). Objetivo: o objetivo do presente estudo é identificar RNAm associados à possíveis vias neurocomportamentais na SFX como no TEA, através de ferramentas de bioinformática. Metodologia: para identificação de possíveis vias alteradas entre a SFX e pacientes com TEA, utilizamos os bancos de dados GSE65106 e GSE21348 para anotação, visualização e descoberta integrada (DAVID 6.8). O valor de p <0,05 e fold change maior que 2 vezes (FC > 2) definidos como os limiares para a identificação de genes diferencialmente expressos (DE-RNAm). Resultados: foi possível identificar cerca de 32 DE-RNAm com funções em vias de spliceossomo, apoptose, transcrição, e em vias neurológicas comportamentais expressos exclusivamente na SFX. Os genes CAPNS1, HNRNPK, HNRPM, foram identificados como hipoexpressos em indivíduos com síndrome do X Frágil. Estes genes tem importante função moduladora nas respostas do potencial de longo prazo (LTP), plasticidade neural, e em transportadores de serotonina (SERT) alterando respostas que englobam humor, cognição e comportamentos, além de interferirem no receptor de dopamina (D2R) alterando as funções motoras e circuitos de recompensa. Conclusão: os genes CAPNS1, HNRNPK, HNRNPM foram identificados como marcadores genéticos eurocomportamentais importantes para a síndrome do X-frágil com expressão diminuída na doença, indicando uma possível modulação desses genes em aspectos fenotípicos marcantes da doença.


Introduction: fragile X Syndrome (FXS) is the most prevalent form of inheritable intellectual disability, and is the leading monogenic cause for the development of Autism Spectrum Disorder (ASD). Objective: the aim of this study is to identify mRNA associated with possible neurobehavioral pathways in SFX as in ASD, using bioinformatics tools. Methodology: to identify possible altered pathways between SFX and ASD patients, we used the GSE65106 and GSE21348 databases for annotation, visualization and integrated discovery (DAVID 6.8). The p value <0.05 and fold change greater than 2 times (HR> 2) are defined as the thresholds for the identification of differentially expressed genes (DE-mRNA). Results: it was possible to identify about 32 DE-mRNA with functions in spliceosome, apoptosis, transcription, and behavioral neurological pathways expressed exclusively in SFX. CAPNS1, HNRNPK, HNRPM genes were identified as hypoexpressed in individuals with fragile X syndrome. These genes play an important modulating role in long-term potential (LTP), neural plasticity, and serotonin transporters (SERT) responses by altering mood, cognition, and behavioral responses, and by interfering with dopamine receptor (D2R) by motor functions and reward circuits. Conclusion: the CAPNS1, HNRNPK, HNRNPM genes have been identified as important neurobehavioral genetic markers for impaired X-syndrome, indicating a possible modulation of these genes into marked phenotypic aspects of the disease.


Subject(s)
Humans , Gene Expression , Autism Spectrum Disorder , Fragile X Syndrome , Genes , Database
15.
Rev. chil. nutr ; 47(4): 620-629, ago. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1138597

ABSTRACT

RESUMEN Introducción: La determinación del nivel de actividad física (AF) puede realizarse a través de acelerómetro o mediante cuestionario de auto-reporte. El objetivo de este estudio fue comparar los niveles de AF entre un cuestionario de auto-reporte y la medición con acelerómetro de movimiento según factores sociodemográficos en la población chilena. Métodos: Estudio de corte transversal que incluyó a 230 adultos chilenos participantes del proyecto Genes, Ambiente, Diabetes y Obesidad (GENADIO). Niveles de AF fueron medidos mediante el cuestionario Internacional Physical Activity Questionnaire (IPAQ) y acelerómetro de movimiento (ActiGraph). Resultados: IPAQ subestimó los niveles de AF total en comparación a la medición con acelerómetro (delta [IPAQ-Acel.]= −55,7 min/día). Según nivel educacional, se evidenció que el cuestionario IPAQ sobreestimó los niveles de AF total en personas con bajo nivel educacional (delta [IPAQ-Acel.]= 70,4 min/día), pero subestimó la AF total en personas con enseñanza media o técnico universitaria (delta [IPAQ-Acel.]= −67,9 y −135,6 min/día, respectivamente). Resultados similares fueron observados para los distintos niveles de ingreso socioeconómico (NSE). Conclusión: El cuestionario de auto-reporte IPAQ subestimó los niveles de AF total en comparación a la medición por acelerómetro; sin embargo, estas diferencias variaron según factores sociodemográficos.


ABSTRACT Introduction: Determining level of physical activitY (PA) can be done with objective measurement, through accelerometer, or by subjective measurement through self-report questionnaire. The aim of this study was to compare PA measurements derived from a self-reported questionnaire and accelerometer according to sociodemographic factors in the Chilean population. Methods: This was a cross-sectional study which included 230 Chilean adults participating in the GENADIO study (Genes, Environment, Diabetes and Obesity). PA levels were measured through the International Physical Activity Questionnaire (IPAQ) and GT1M accelerometer (ActiTrainer, ActiGraph). Results: IPAQ questionnaire underestimated the total PA levels compared to the accelerometer measurement (delta[IPAQ-Acel.]= −55.7 min/day). According to educational level, IPAQ questionnaire overestimated PA level in people with low educational level (delta[IPAQ-Accel.]= 70.4 min/day), but underestimated total PA in people with secondary education or university technician (delta[IPAQ-Accel.]=-67.9 and-135.6 min/day, respectively). Similar results were observed for the different levels of socioeconomic income. Conclusion: The IPAQ questionnaire underestimated total PA levels compared to accelerometer; however, these differences varied according to sociodemographic factors.


Subject(s)
Adult , Measurements, Methods and Theories , Exercise , Obesity , Population , Chronic Disease , Education, Primary and Secondary , Environment , Genes
16.
Rev. bras. ortop ; 55(2): 131-138, Mar.-Apr. 2020. tab, graf
Article in English | LILACS | ID: biblio-1138015

ABSTRACT

Abstract Disc degeneration is a condition that compromises the intervertebral disc functions, which can lead to several important pathological processes, such as disc herniation and canal stenosis. Although its etiology is still unknown, more and more studies have demonstrated the preponderant role of genetic factors to the detriment of environmental factors. Aiming to review the current knowledge about the genes associated with intervertebral disc degeneration, we have performed a narrative review based on the medical literature in the English language from the last 10 years regarding this subject. We have concluded that several genes have been associated with disc degeneration in humans, including the genes for collagen I α-1 (COL1A1), collagen IX (COL9A2 and COL9A3), collagen XI (COL11A2), interleukin 6 (IL-6), aggrecan (AGC1), vitamin D receptor (VDR), and matrix metalloproteinase 3 (MMP-3), in addition to microRNAs. Therefore, the present review emphasizes the latest advancements in the association of genes with specific phenotypes of degenerated discs, single-nucleotide polymorphisms, heritage and genetic-environmental interactions in relation to disc degeneration to help future reviews regarding the genetic mechanisms underlying these processes.


Resumo A degeneração discal é uma condição que compromete as funções do disco intervertebral, podendo levar a vários processos patológicos importantes, como hérnias discais e estenoses de canal. Apesar de sua etiologia ainda ser desconhecida, cada vez mais estudos têm demonstrado o papel preponderante de fatores genéticos em detrimento de fatores ambientais. Com o objetivo de revisar o conhecimento atual sobre os genes associados à degeneração do disco intervertebral, foi realizada uma revisão narrativa da literatura inglesa nos últimos 10 anos sobre o tema. Concluímos que há uma série de genes que foram associados à degeneração discal em seres humanos, incluindo genes codificando colágeno I α-1 (COL1A1), colágeno IX (COL9A2 e COL9A3), colágeno XI (COL11A2), interleucina 6 (IL-6), agrecano (AGC1), receptor de vitamina D (VDR), metaloproteinase de matriz 3 (MMP-3), além de microRNAs. Dessa forma, a presente revisão enfatiza os últimos avanços na associação de genes com fenótipos de discos degenerados específicos, polimorfismos de nucleotídeos únicos, hereditariedade e interações genético-ambientais em relação à degeneração discal, com o intuito de permitir ao clínico entender esse mecanismo de degeneração e estar preparado para as novas terapêuticas que estão por vir baseadas na genética.


Subject(s)
Phenotype , Polymorphism, Genetic , Heredity , Intervertebral Disc Degeneration , Forecasting , Genes , Intervertebral Disc , Nucleotides
17.
Rev. bras. ortop ; 55(1): 8-16, Jan.-Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1092686

ABSTRACT

Abstract Several association studies of genes polymorphisms on estrogen receptors-α and β with respect to adolescent idiopathic scoliosis (AIS) have been published in the past two decades. However, the association with AIS, especially among different ethnic subgroups, still remains controversial. Thus, we investigated these inconclusive data by performing a meta-analysis to systematically evaluate the association. A literature search was conducted in the PubMed, ISI Web of Science, EMBASE, SCOPUS, EBSCO, Cochrane Library, China National Knowledge Infrastructure (CNKI) and Wanfang databases until January 20, 2018. The strength of relationship was assessed using odds ratios (ORs) and 95% confidence intervals (95%CIs). A total of 12 case-control studies with 4,304 cases of AIS and 3,123 controls met our criteria. The pooled ORs indicated that the ESRα XbaI A > G, ESRα PvuII T > C and ESRβ AlwNI T > C polymorphisms were not significantly associated with the risk of developing AIS in the overall analysis. However, we found a significant association between the ESRα XbaI A > G polymorphism and AIS under the homozygote model (GG versus AA; OR = 1.448, 95%CI: 1.052-1.993; p = 0.023). The present meta-analysis suggests that the ESRα XbaI A > G, ESRα PvuII T > C and ESRβ AlwNI T > C polymorphisms may not be associated with the risk of developing AIS in the overall analysis. However, ESRα XbaI A > G might have an influence on the susceptibility to develop AIS among Asians. Considering the limited sample size and ethnicity, further larger studies are needed to provide a more precise estimation of the associations.


Resumo Vários estudos de associação entre os polimorfismos genéticos nos receptores α e β de estrogênio e a escoliose idiopática da adolescência (EIA) foram publicados nas últimas duas décadas. No entanto, a associação com a EIA, especialmente em diferentes subgrupos étnicos, continua a ser controversa. Assim, o presente estudo investigou esses dados inconclusivos por meio de uma metanálise para avaliar sistematicamente essa associação. Uma pesquisa bibliográfica foi realizada nas bases de dados PubMed, ISI Web of Science, EMBASE, SCOPUS, EBSCO, Cochrane Library, China National Knowledge Infrastructure (CNKI) e Wanfang até 20 de janeiro de 2018. A força de associação foi avaliada por meio de razões de probabilidades (RPs) e intervalos de confiança de 95% (ICs95%). Um total de 12 estudos de caso-controle, com 4.304 casos de EIA e 3.123 controles, atenderam aos critérios de inclusão do presente estudo. As RPs combinadas indicaram que os polimorfismos ESRα XbaI A > G, ESRα PvuII T > C e ESRβ AlwNI T > C podem não estar significativamente associados ao risco geral de desenvolvimento de EIA. No entanto, observou-se uma associação significativa entre o polimorfismo ESRα XbaI A > G e a EIA sob o modelo homozigótico (GG versus AA; RP = 1,448; IC95%: 1,052-1,993; p = 0,023). Esta metanálise sugere que os polimorfismos ESRα XbaI A > G, ESRα PvuII T > C e ESRβ AlwNI T > C podem não estar associados ao risco geral de desenvolvimento de EIA. No entanto, ESRα XbaI A > G pode influenciar a suscetibilidade de desenvolver EIA entre indivíduos asiáticos. Considerando o tamanho e a variação étnica limitada da amostra, outros estudos de maior escala são necessários para obter uma estimativa mais precisa das associações.


Subject(s)
Polymorphism, Genetic , Scoliosis , Ethnic Groups , Interleukin-6 , Meta-Analysis , Asian Continental Ancestry Group , Genes
19.
Rev. Investig. Salud. Univ. Boyacá ; 7(1): 102-117, 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1178376

ABSTRACT

Introducción. La resistencia a los antimicrobianos y la tolerancia a biocidas está dada por mecanismos comunes, generados por su uso en diferentes ambientes; mecanismos como la expresión de bombas de expulsión presentes en bacterias del género Enterobacter circulantes amenaza la eficacia de los antimicrobianos limitando las opciones de terapia antibiótica. Objetivos: Determinar el perfil de tolerancia al triclosán y detección de genes asociados a bombas de expulsión en aislados clínicos de Enterobacter aerogenes y Enterobacter cloacae. Materiales y Métodos: Se realizó un estudio observacional, descriptivo y de corte transversal, se determinaron perfiles de tolerancia al triclosán por microdilución, de susceptibilidad antimicrobiana, confirmación fenotípica de mecanismos de resistencia, por reacción en cadena de la polimerasa, se identificó la presencia de genes que codifican para bombas de expulsión. Resultados: El 17% correspondió a Enterobacter cloacae y el 6% Enterobacter aerogenes. El 93,7% de los aislados clínicos del género Enterobacter presentó el fenotipo de resistencia BLEE y AmpC. En el 81,3% de los aislamientos se obtuvo la presencia de al menos un gen relacionado con las expresión de bombas de expulsión, siendo frecuentes MexC y AcrB; no identificó presencia del gen oqxA. Conclusiones: La resistencia a diferentes grupos de antibióticos se identifica en especies de Enterobacter circulante, así la presencia de enzimas BLEE y AmpC, la presencia de genes relacionados con bombas de expulsión y la alta tolerancia al triclosán. Palabras clave: Triclosán, Resistencia, Bombas de expulsión, Genes, Biocida


Introduction. Antimicrobial resistance and tolerance to biocides is given by common mechanisms, generated by the use of antimicrobial and biocidal substances in different environments, these me- chanisms such as the expression of expulsion pumps present in bacteria of the Enterobacter genus circulating threatens the efficacy of antimicrobials by limiting antibiotic therapy options. Objective: to determine the triclosan tolerance profile and detection of genes associated with expul- sion pumps in clinical isolates of Enterobacter aerogenes and Enterobacter cloacae. Materials and Methods: An observational, descriptive and the cross-sectional study was performed, triclosan tolerance profiles were determined by microdilution, antimicrobial susceptibility, phenotypic confirmation of resistance mechanisms, by the presence of polymerase chain reaction, the presence of genes that code for expulsion pumps. Results: The 17% corresponded to Enterobacter cloacae and 6% Enterobacter aerogenes. 93.7% of the clinical isolates of the genus Enterobacter presented the ESBL and AmpC resistance phenotype. In 81.3% of the isolates, the presence of at least one gene related to the expression of ejection pumps was obtained, with MexC and AcrB being frequent; did not identify the presence of the oqxA gene. conclusions: The resistance to different groups of antibiotics is identified in circulating Enterobacter species, as well as the presence of ESBL and AmpC enzymes, the presence of genes related to ejection pumps, and high tolerance to triclosan.


Introdução.A resistência antimicrobiana e a tolerância a biocidas esta dada pelos mecanismos comuns gerados pelo uso em diferentes ambientes; mecanismos como a expressão de bombas de expulsão presentes em bactérias do gênero Enterobacter circulantes ameaza a eficácia das antimicrobiana limitando as opções de terapia antibiótica. Objetivos: Determinar o perfil de tolerância ao triclosan e detecção dos genes asociados a bombas de expulsão em isolados clínicos Enterobacter aerogenes e Enterobacter cloacae. Materiais e Métodos: Realizou-se um estudo observacional, descritivo e de corte transversal, deter- minaram-se perfiles de tolerância ao triclosan por microdiluição, de susceptibilidade antimicrobiana, confirmação de mecanismos de resistência fenotípica por reação em cadeia da polimerase, identifi- cou-se a presença de genes que codificam para bombas de expulsão. Resultados: 17% correspondeu ao Enterobacter cloacae e 6% ao Enterobacter aerogenes. 93,7% em isolados clínicos do gênero Enterobacter presentou o fenótipo de resistência BLEE e AmpC. No 81% dos isolamentos se obteve a presença de pelo menos um gen relacionado à expressão de bombas de expulsão, sindo frequentes mexC e acrB; não se identificou a presença do gen oqxA. Conclusões: A resistência de diferentes grupos de antibióticos se identificou em espécies de Entero- bacter circulante, assim a presença de enzimas BLEE e AmpC, a presença de genes relacionados com bombas de expulsão e a alta tolerância ao triclosan.


Subject(s)
Drug Resistance, Bacterial , Triclosan , Disinfectants , Genes
20.
Arq. Inst. Biol ; 87: e0372019, 2020. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1130048

ABSTRACT

There is little information on the efficacy and selectivity of sulfonylureas, isolated and in association with glyphosate, in glyphosate and sulfonylurea-tolerant soybeans. Thus, the present study aims to evaluate the efficacy of weed control and selectivity of sulfonylureas, isolated and in association with glyphosate, at post-emergence (V4) of RR2/STS soybean. The experiments were conducted in the in areas located in Piracicaba City, São Paulo State (SP), Brazil (experiment I) and Palotina City, Paraná State (PR), Brazil (experiment II). Treatments were composed of application of the herbicides sulfometuron, chlorimuron, halosulfuron, ethoxysulfuron and glyphosate, isolated and in association, in the BMX Garra RR2/STS cultivar. Experiment I was conducted focusing on the evaluation of the efficacy of weed control; whereas experiment II focused mainly on the evaluation of herbicide selectivity. The experimental design was the randomized complete block, with four replications. Crop injury, weed control, and variables related to agronomic performance were evaluated. Data were submitted to analysis of variance, and the means of the treatments were compared with the Tukey test. Sulfonylureas in association with glyphosate were effective in weed control and selective for the BMX Garra RR2/STS soybean cultivar. The sulfometuron + chlorimuron + glyphosate association presented phytotoxic potential for the BMX Garra RR2/STS cultivar.(AU)


Há poucas informações sobre a eficácia e seletividade de sulfonilureias, isoladas e associadas ao glifosato, na soja tolerante ao glifosato e às sulfonilureias. Assim, o presente estudo teve como objetivo avaliar a eficácia no controle de plantas daninhas e seletividade de sulfonilureias, isoladas e em associação com o glifosato, em pós-emergência (V4) de soja RR2/STS. Os experimentos foram conduzidos em áreas localizadas nos municípios de Piracicaba, São Paulo (SP), Brasil (experimento I) e Palotina, Paraná (PR), Brasil (experimento II). Os tratamentos foram compostos pela aplicação dos herbicidas sulfometurom, clorimurom, halossulfurom, etoxissulfurom e glifosato, isolados e em associação, no cultivar BMX Garra RR2/STS. O experimento I foi realizado com o foco principal na avaliação da eficácia no controle de plantas daninhas; ao passo que o experimento II se concentrou principalmente na avaliação da seletividade dos herbicidas. O delineamento experimental foi o de blocos casualizados, com quatro repetições. Foram avaliados sintomas de injúria, controle de plantas daninhas e variáveis relacionadas ao desempenho agronômico. Os dados foram submetidos à análise de variância, e as médias dos tratamentos foram comparadas pelo teste de Tukey. Sulfonilureias associadas ao glifosato foram eficazes no controle de plantas daninhas e seletivas para o cultivar de soja BMX Garra RR2/STS. A associação sulfometurom + clorimurom + glifosato apresentou potencial fitotóxico para o cultivar BMX Garra RR2/STS.(AU)


Subject(s)
Agrobacterium tumefaciens , Plant Weeds , Weed Control , Soybeans , Pest Control , Efficacy , Genes , Herbicides
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