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Id: biblio-1047773
Autor: Ryu, Jaihyunk; Kim, Woon Ji; Im, Juhyun; Hun Kim, Sang; Lee, Kang-Seop; Jo, Han-Jig; Kim, Ee-Youb; Kang, Si-Yong; Lee, Jeong-Hee; Ha, Bo-Keun.
Título: Genotyping-by-sequencing based single nucleotide polymorphisms enabled Kompetitive Allele Specific PCR marker development in mutant Rubus genotypes
Fonte: Electron. j. biotechnol;35:57-62, sept. 2018. tab, graf.
Idioma: en.
Projeto: Korea Institute of Planning and Evaluation for Technology in Food, Agriculture, Forestry,; . and Fisheries (IPET); . Agri-Bio Industry Technology Development Program funded by the Ministry of Agriculture, Food, and Rural Affairs; . National Research Foundation of Korea.
Resumo: Background: Rubus is an economically important fruit crop across the globe. Recently, several Rubus mutant genotypes with improved agronomic traits have been developed using gamma ray irradiation. This study investigated genetic diversity and variations in Rubus mutant genotypes using single nucleotide polymorphism (SNP) markers generated from genotyping-by-sequencing (GBS) analysis. A GBS library of 14 Rubus genotypes, consisting of seven boysenberry mutant lines, four blackberry mutant lines, and three original varieties, were sequenced on the Illumina Hiseq2000 platform. A set of SNPs were analyzed by Kompetitive Allele Specific PCR (KASP) assay in order to discriminate the Rubus genotypes. Results: A total of 50,831,040 (86.4%) reads of clean data were generated, and the trimmed length ranged from 116,380,840 to 509,806,521 bp, with an average of 228,087,333 bp per line. A total of 19,634 high-quality SNPs were detected, which contained 11,328 homozygous SNPs and 8306 heterozygous SNPs. A set of 1504 SNPs was used to perform a phylogenetic analysis, which showed that there were clear differences among the Rubus genotypes based on their origin. A total of 25 SNPs were used for the KASP assays, of which six KASP primer sets were successfully distinguished among the Rubus genotypes. Conclusions: This study demonstrated that the SNP and KASP method is an economically efficient tool for mutant screening in Rubus breeding programs.
Descritores: Polimorfismo de Nucleotídeo Único/genética
Rubus/genética
-Filogenia
Cruzamento
Marcadores Genéticos
Produtos Agrícolas
Alelos
Sequenciamento de Nucleotídeos em Larga Escala
Raios gama
Genótipo
Mutação
Responsável: CL1.1 - Biblioteca Central


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Balarin, Marly Aparecida Spadotto
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Id: biblio-1136441
Autor: Bezerra, Kaio Raffael Valotta; Tanaka, Sarah Cristina Sato Vaz; Silva, Vanessa Resende Souza; Paschoinni, Marina Carvalho; Grecco, Roseane Lopes da Silva; Soardi, Fernanda Caroline; Balarin, Marly Aparecida Spadotto.
Título: Contribution of rs1799998 polymorphism in CYP11B2 gene in susceptibility to preeclampsia / Contribuição do polimorfismo rs1799998 no gene CYP11B2 na suscetibilidade à pré-eclampsia
Fonte: Rev. Bras. Saúde Mater. Infant. (Online);20(2):467-471, Apr.-June 2020. tab.
Idioma: en.
Resumo: Abstract Objectives: the present study aimed to evaluate the association between the rs1799998 polymorphism of the CYP11B2 gene and the susceptibility to preeclampsia (PE) in a Brazilian population. Methods: the study group comprised 61 women who were diagnosed with PE. The control group included 116 women who did not show changes in their blood pressure levels during their pregnancies. The rs1799998 polymorphism of the CYP11B2 gene was amplified by allele-specific polymerase chain reaction (PCR). A multiple logistic regression analysis was performed using the SNPStat program to evaluate the risk of the CYP11B2 gene rs1799998 polymorphism contributing to PE. Results: the PE group had the following genotypes: 1.64% CC, 91.80% CT, and 6.56% TT. In the control group, the observed genotypic frequencies were: 11% CC, 73% CT, and 16% TT. The genotypic frequency distribution did not fit the Hardy Weinberg Equilibrium (HWE) in either study group. The multiple logistic regression analysis showed a statistically significant difference for the rs1799998 polymorphism in the recessive model. Conclusion: the results suggest an association between the recessive model of C/C genotype of the rs1799998 polymorphism of the CYP11B2 gene and susceptibility to PE.

Resumo Objetivos: avaliar a associação entre o polimorfismo rs1799998 do gene CYP11B2 e a suscetibilidade à PE em uma população brasileira. Métodos: participaram desse estudo 61 mulheres com PE e 116 mulheres normotensas. O polimorfismo rs1799998 do gene CYP11B2 foi amplificado por PCR alelo-específica. O risco do polimorfismo rs1799998 do gene CYP11B2 contribuir com a PE foi avaliado pela análise de regressão logística múltipla. Resultados: as frequências genotípicas observadas foram 1.64% CC, 91.80% CT e 6.56% TT no grupo PE e 11%CC, 73%CT e 16%TT grupo controle. A distribuição da frequência genotípica não estava em Equilíbrio de Hardy Weinberg em nenhum dos grupos estudados. A análise de regressão logística múltipla demonstrou diferença estatisticamente significativa para o polimorfismo rs1799998 no modelo recessivo. Conclusão: o presente trabalho sugere associação do genótipo C/C no modelo recessivo, do polimorfismo rs1799998 do gene CYP11B2 com a suscetibilidade a PE.
Descritores: Polimorfismo Genético
Pré-Eclâmpsia/genética
Citocromo P-450 CYP11B2
Sistema Enzimático do Citocromo P-450
-Brasil
Marcadores Genéticos
Modelos Logísticos
Predisposição Genética para Doença
Perfil Genético
Limites: Humanos
Feminino
Gravidez
Responsável: BR663.1 - Biblioteca da Saúde da Mulher e da Criança


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Id: biblio-1223252
Autor: Li, Wenbo; Zeng, Xiuhong; Li, Shuanglan; Chen, Fabo; Gao, Jian.
Título: Development and application of two novel functional molecular markers of BADH2 in rice
Fonte: Electron. j. biotechnol;46:1-7, jul. 2020. ilus, graf, tab.
Idioma: en.
Projeto: Natural Science Foundation of CSTB; . Science and Technology Plan Projects of Fuling District.
Resumo: BACKGROUND: Fragrance is one of the most important quality traits in rice, and the phenotype is attributed to the loss-of-function betaine aldehyde dehydrogenase (BADH2) gene. At least 12 allelic variations of BADH2 have been identified, and some of these have been applied to rice fragrance breeding using traditional molecular markers and Sanger sequencing techniques. However, these traditional methods have several limitations, such as being very expensive, imprecise, inefficient, and having security issues. Thus, a new molecular marker technology must be developed to improve rice fragrance breeding. RESULTS: In this study, more than 95% of the cultivated fragrant rice varieties belonged to a 7-bp deletion in exon 2 (badh2-E2) or an 8-bp deletion and 3-bp variation in exon 7 (badh2-E7). Both allelic variations resulted in the loss of function of the badh2 gene. We developed two novel SNP molecular markers, SNP_badh2-E2 and SNP_badh2- E7, related to the alleles. Their genotype and phenotype were highly cosegregated in the natural variation of rice accessions, with 160 of the 164 fragrant rice varieties detected with the two markers. These markers cosegregated with the fragrance phenotype in the F2 population. CONCLUSIONS: Two functional SNP molecular markers of badh2-E2 and badh2-E7 allelic variations were developed. These functional SNP molecular markers can be used for genotype and genetic improvement of rice fragrance through marker-assisted selection and will significantly improve the efficiency of fragrant rice breeding and promote commercial molecular breeding of rice in the future.
Descritores: Oryza/enzimologia
Oryza/genética
Betaína-Aldeído Desidrogenase/metabolismo
-Marcadores Genéticos
Alelos
Técnicas de Genotipagem/métodos
Genótipo
Odorantes
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1156443
Autor: Lavaut Sánchez, Kalia.
Título: Citogenética de las hemopatías malignas en la era de la secuenciación / Cytogenetics of malignant hemopathies in the sequencing era
Fonte: Rev. cuba. hematol. inmunol. hemoter;36(3):e1243, jul.-set. 2020.
Idioma: es.
Resumo: Las neoplasias hematológicas se caracterizan por un gran número y complejidad de alteraciones genéticas, desde la formación de genes de fusión a partir de translocaciones e inversiones cromosómicas hasta mutaciones génicas y alteraciones epigenéticas que han permitido la identificación de nuevos oncogenes y genes supresores de tumores responsables de su etiología. Al abordar el estudio genético de las leucemias se utilizan múltiples técnicas como la citogenética convencional, citogenética molecular (hibridaciónin situ por fluorescencia (FISH), esta última con una mayor sensibilidad, especificidad y rapidez que permiten el diagnóstico, la estratificación pronóstica y seguimiento de la enfermedad. Las técnicas anteriores se integran con técnicas de biología molecular, secuenciación génica, entre otras, que permiten el hallazgo de nuevos marcadores genéticos con una mejor caracterización de las hemopatías malignas y la posibilidad del desarrollo de nuevos fármacos específicos que actúen sobre la diana molecular. El objetivo fue revisar la utilidad de la citogenética y la secuenciación génica en el estudio de la leucemia mieloide aguda y la leucemia linfocítica crónica. Ante las ventajas, desventajas y limitaciones de estas técnicas genéticas es necesario utilizarlas de forma complementaria y nunca excluyente(AU)

Hematological neoplasms are characterized by a large number and great complexity of genetic disorders, from the formation of fusion genes after chromosomal translocations and inversions to gene mutation and epigenetic disorders that have permitted the identification of new oncogenes and tumor-suppressing genes responsible for their etiology. When addressing the genetic study of leukemias, multiple techniques are used, such as conventional cytogenetics, molecular cytogenetics, and fluorescence in situ hybridization (FISH), the latter having the higher degree of sensitivity, specificity and speed, which allow diagnosis, prognostic stratification and follow-up of the disease. The previous techniques are integrated with molecular biology techniques, gene sequencing, among others, which allow discovery of new genetic markers with better characterization of malignant hemopathies and the possibility of developing new specific drugs against the molecular target. The objective was to review the usefulness of cytogenetics and gene sequencing in the study of acute myeloid leukemia and chronic lymphocytic leukemia. Given the advantages, disadvantages and limitations of these genetic techniques, it is necessary to use them in as complementary but never exclusive management ways(AU)
Descritores: Oncogenes
Marcadores Genéticos
Hibridização in Situ Fluorescente/métodos
Neoplasias Hematológicas/genética
Citogenética
Epigenômica
Doenças Genéticas Inatas
Biologia Molecular
-Sequenciamento Completo do Genoma/métodos
Limites: Humanos
Responsável: CU1.1 - Biblioteca Médica Nacional


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Id: biblio-978149
Autor: Bascur P, M. Nicole; Ceballos O, M. Luisa; Farfán U, Mauricio; Gajardo H, Iván; López C, Joaquín.
Título: Detección de mutaciones del gen de HNF1B en niños con malformaciones congénitas renales y del tracto urinario / Detection of mutations of the HNF1B gene in children with congenital anomalies of the kidney and urinary tract
Fonte: Rev. chil. pediatr;89(6):741-746, dic. 2018. tab, graf.
Idioma: es.
Projeto: Hospital Luis Calvo Mackenna.
Resumo: Resumen: Introducción: Las anomalías congénitas del riñón y del tracto urinario se originan de alteraciones genéticas, en su mayoría desconocidas. Las mutaciones en el gen que codifica para el factor hepatocitario nuclear 1B (HNF1B), son la causa monogénica más frecuentemente descrita. Se desconocen datos en Chile y Latinoamérica. Objetivo: Determinar la presencia de variantes del gen HNF1B en niños chilenos con anomalías congénitas del riñón y/o tracto urinario y sus características clínicas. Pacientes y Mé todo: Estudio descriptivo con pacientes entre 10 meses y 17 años, consultantes en Unidad de Nefrología Hospital Luis Calvo Mackenna, período abril - diciembre 2016, portadores de displasia renal quística, displasia/hipoplasia renal no quística y/o riñón en herradura. Se determinaron variantes de HNF1B mediante secuenciación de exones 1, 2, 3 y 4; previa extracción y amplificación de DNA. Se utilizaron enzimas de restricción para definir si variantes eran homo o heterocigotas. Familiares di rectos de casos índices se estudiaron con secuenciación del exón afectado. Resultados: Se incluyeron 32 pacientes, 43,75% varones, mediana edad 11 años. El 65,6% displasia/hipoplasia renal no quística, 31,25% displasia renal quística y 3,15% riñón en herradura. En 2 pacientes (6,25%) se detectó una misma variante genética heterocigota en exón 4, posición 1027 (C1027T), no descrita anteriormente. El estudio de familiares determinó la variante en 3 de 5 individuos, todos sin anomalías nefrouro- lógicas congénitas. Conclusiones: Confirmamos la presencia de una variante genética heterocigota del gen HNF1B, no descrita previamente, dando inicio a la búsqueda de este tipo de mutaciones en nuestro medio, lo cual nos permite aproximarnos al conocimiento de causalidad, determinación de compromiso extrarrenal y consejo genético.

Abstract Introduction: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. Objective: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics. Patients and Method: Descriptive study with children aged 10 months to 17 years, patients of the Calvo Mackenna Hospital Nephrology Unit, with cystic renal dysplasia, non cystic renal dysplasia/hypoplasia, horses hoe kidney between April and December 2016. HNF1B variants were determined by sequencing of exons 1, 2, 3 and 4 after DNA extraction and amplification. Restriction enzymes were used to define if the variants were homo or heterozygous. Direct family members of index cases were studied with sequencing of the affected exon. Results: 32 patients were included, 43.75% males, median age 11 years. 65.6% of them had non-cystic renal dysplasia, 31.25% cystic renal dysplasia, and 3.15% hor seshoe kidney. In two patients (6.25%) the same heterozygous genetic variant was detected in exon 4, position 1027 (C1027T), not previously described. The study of relatives found the same variant in three out of five individuals, all without congenital nephro-urological anomalies. Conclusions: We confirmed the presence of a not previously described heterozygous genetic variant of the HNF1B gene. This work initiates the search for this type of mutations in our region which allows us to ap proach the knowledge of causality, determination of extrarenal involvement, and genetic counseling.
Descritores: Anormalidades Urogenitais/genética
Doenças Urológicas/genética
Fator 1-beta Nuclear de Hepatócito/genética
Nefropatias/genética
-Marcadores Genéticos
Chile
Estudos Prospectivos
Predisposição Genética para Doença
Heterozigoto
Mutação
Limites: Humanos
Masculino
Feminino
Lactente
Pré-Escolar
Criança
Adolescente
Tipo de Publ: Estudo Observacional
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-961452
Autor: Petermann, Fanny; Villagrán, Marcelo; Troncoso, Claudia; Mardones, Lorena; Leiva, Ana María; Martínez, María Adela; Garrido-Méndez, Alex; Poblete-Valderrama, Felipe; Salas-Bravo, Carlos; Ramírez-Vélez, Robinson; Ulloa, Natalia; Pérez-Bravo, Francisco; Celis-Morales, Carlos.
Título: Asociación entre el polimorfismo rs9939609 del gen FTO y marcadores de adiposidad en población adulta chilena / Association between FTO (ns9939609) genotype and adiposity markers in Chilean adults
Fonte: Rev. méd. Chile;146(6):717-726, jun. 2018. tab, graf.
Idioma: es.
Resumo: Background: Numerous studies have identified the role of Fat-mass-associated-gene (FTO) in the development of obesity. Aim: To investigate the association of FTO gene with adiposity markers in Chilean adults. Material and Methods: 409 participants were included in this cross-sectional study. The association between FTO (rs9939609) genotype and adiposity markers was determined using linear regression analyses. Adiposity markers included were: body weight, body mass index, fat mass, waist circumference, hip circumference and waist/hip ratio. Results: A fully adjusted model showed a significant association between FTO genotype and body weight (2.16 kg per each extra copy of the risk allele [95% confidence intervals (CI): 0.45 to 3.87], p = 0.014), body mass index (0.61 kg.m-2 [95% CI: 0.12 to 1.20], p = 0.050) and fat mass (1.14% [95% CI: 0.39 to 1.89], p = 0.010). The greater magnitude of association was found between the FTO gene and fat mass when the outcomes were standardized to z-score. Conclusions: This study confirms an association between the FTO gene and adiposity markers in Chilean adults, which is independent of major confounding factors.
Descritores: Adiposidade/genética
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética
Genótipo
Obesidade/genética
-Valores de Referência
Fatores Socioeconômicos
Marcadores Genéticos
Modelos Lineares
Chile/etnologia
Antropometria
Reação em Cadeia da Polimerase
Estudos Transversais
Fatores de Risco
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Alelos
Adiposidade/etnologia
Estilo de Vida
Obesidade/etnologia
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-840826
Autor: Saidi, Skender; Popov, Zivko; Janevska, Vesna; Panov, Sasho.
Título: Overexpression of UHRF1 gene correlates with the major clinicopathological parameters in urinary bladder cancer
Fonte: Int. braz. j. urol;43(2):224-229, Mar.-Apr. 2017. tab, graf.
Idioma: en.
Resumo: ABSTRACT Introduction Recently, expression of the UHRF1 gene was found to be up-regulated in numerous neoplasms, including the urinary bladder transitional cell carcinoma (TCC). Objective The aim of our study was to determine if the expression levels of UHRF1 gene correlates with the major pathological characteristics of the tumor and patients’ clinical outcome. Materials and Methods In our study, we have analyzed the tissue samples derived from group of 70 patients with histologically confirmed TCC of the urinary bladder, while normal urinary bladder mucosa obtained from 40 patients with nonmalignant diseases was used as a negative control group. Expression of UHRF1 gene in each patient sample was determined using reverse transcriptase-polymerase chain reaction. Results UHRF1 gene expression was found to be app. 2.5 times higher in samples from patients with TCC in comparison with normal epithelium derived from control group patients. Analysis show that gene expression correlates with the malignancy of the tumor. A highly significant differences were found between the expression values of samples from low and high grade TCC, as well as between the high grade and control group. UHRF1 expression was higher in patients with non-muscle invasive disease than in those with muscle invasive disease. Conclusions The result of this study indicates that UHRF1 gene expression levels correlates with the major pathological characteristics of TCC samples and with the clinical outcome of those patients. Determination of UHRF1 gene expression could have a potential to be used as a sensitive molecular marker in patients with urinary bladder cancer.
Descritores: Neoplasias da Bexiga Urinária/genética
Neoplasias da Bexiga Urinária/patologia
Carcinoma de Células de Transição/genética
Carcinoma de Células de Transição/patologia
Regulação Neoplásica da Expressão Gênica
Proteínas Estimuladoras de Ligação a CCAAT/análise
Proteínas Estimuladoras de Ligação a CCAAT/genética
-Valores de Referência
Bexiga Urinária/patologia
Marcadores Genéticos
Estatísticas não Paramétricas
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Ubiquitina-Proteína Ligases
Carga Tumoral
Gradação de Tumores
Pessoa de Meia-Idade
Invasividade Neoplásica
Estadiamento de Neoplasias
Limites: Humanos
Masculino
Feminino
Adulto
Idoso
Idoso de 80 Anos ou mais
Responsável: BR1.1 - BIREME


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Id: biblio-1126174
Autor: Ulloa, Natalia; Villagrán, Marcelo; Riffo, Benilde; Gleisner, Andrea; Petermann-Rocha, Fanny; Mardones, Lorena; Leiva, Ana María; Martínez-Sanguinetti, María Adela; Celis-Morales, Carlos.
Título: Asociación entre el polimorfismo rs9939609 del gen FTO y marcadores de adiposidad en población infantil chilena / Association between FTO gene rs9939609 and adiposity markers in Chilean children
Fonte: Rev. chil. pediatr;91(3):371-378, jun. 2020. tab, graf.
Idioma: es.
Projeto: Proyecto INNOVA CORFO.
Resumo: Resumen: Introducción: La obesidad es una enfermedad inflamatoria donde la genética determina cierto nivel de riesgo. Aun cuando existen estudios que reportan asociación entre polimorfismos de FTO (fat-mass associated gene) y adiposidad, existe limitada evidencia en población infantil chilena. Objetivo: determinar la asociación entre el polimorfismo rs9939609 del FTO y marcadores de adiposidad en población in fantil chilena. Pacientes y Método: Estudio de corte transversal incluyó 361 participantes (de 6 a 11 años; 50% niñas). Los datos clínicos y la recolección de muestras de sangre se realizaron entre marzo y junio de 2008. El polimorfismo SNP (rs9939609), del gen FTO, se determinó utilizando ADN genómico extraído de leucocitos, utilizando el Mini Kit QIAamp DNA Blood (Qiagen GmbH, Hilden, Alemania). Los marcadores de adiposidad estudiados fueron, índice de masa corporal (IMC), masa grasa, perímetro de cintura (PC) y razón cintura/talla, y se compararon ajustados por sexo, edad y estadio de Tanner. La asociación entre el polimorfismo estudiado y los marcadores de obesidad se realizó mediante análisis de regresión lineal. Resultados: Al ajustar los marcadores por sexo, edad y estadío de Tanner se observó una asociación significativa entre el polimorfismo e indicadores de adi posidad. Por cada copia extra del alelo de riesgo se encontró un aumento de 2,47 kg de peso corporal, (IC 95%: 1,39-3,55); 1,06 kg/m2 de IMC, (IC 95%: 0,56-1,54); 2,55 cm de PC, (IC 95%: 1,26-3,85) y 1,98% de masa grasa, (IC 95%: 0,78-3,19). Al convertir los marcadores de adiposidad a z-score, la razón perímetro de cintura/talla arrojó la mayor asociación con el alelo de riesgo de FTO. Conclu sión: Este estudio indica asociación entre el polimorfismo rs9939609 del gen FTO con marcadores de adiposidad general y central en población infantil en Chile.

Abstract: Introduction: Obesity is considered a chronic inflammatory disease with an important genetic component. Although several studies have reported an association between the FTO (fat-mass associated gene) and adiposity in children, there is limited evidence in the Chilean population. Objective: To deter mine the association between the polymorphism rs9939609 of the FTO gene and markers of adipo sity in Chilean children. Patients and Method: Cross-sectional study which included 361 children aged between 6 and 11 years (50% were girls). Between March and June 2008, clinical data and blood sample collection was carried out. The rs9939609 single-nucleotide polymorphism (SNP) of the FTO gene, was determined using the genomic DNA extracted from leukocytes, using the QIAamp DNA Blood Mini Kit (Qiagen GmbH, Hilden, Germany).The adiposity markers included were body mass index (BMI), waist circumference (WC), body fat, and WC/H index; which were later compared adjusted by sex, age, and Tanner stage. Linear regression analyses were conducted to detect the association between the polymorphism and obesity markers. Results: After adjusting the models by age, sex, and Tanner stage, we found a significant association between the polymorphism and markers of adiposity. For each extra copy of the risk allele, we found an increase of 2.47 kg body weight (95% CI: 1.39-3.55); 1.06 kg/m2 BMI (95% CI: 0.56-1.54); 2.55 cm WC, (95% CI: 1.26-3.85); and 1.98% body fat (95% CI: 0.78-3.19). When converting adiposity markers to z-score, we found that WC/height index shows the strongest association with the risk allele FTO. Conclusion: This study supports the association between the rs9939609 SNP of the FTO gene and overall and central adiposity markers in Chilean children.
Descritores: Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Adiposidade/genética
Obesidade Pediátrica/genética
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética
-Marcadores Genéticos
Modelos Lineares
Chile
Estudos Transversais
Obesidade Pediátrica/diagnóstico
Obesidade Pediátrica/patologia
Limites: Humanos
Masculino
Feminino
Criança
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1126181
Autor: Fasce, Juan; Calbacho, Marcela; Oyarzun, María; Reinbach, Katya; Daza, Ariadna; García-Alix, Alfredo.
Título: Trombosis senovenosa cerebral en un recién nacido con mutación MTHFR C677T tratado con enoxaparina / Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin
Fonte: Rev. chil. pediatr;91(3):417-423, jun. 2020. graf.
Idioma: es.
Resumo: Resumen: Introducción: La trombosis senovenosa cerebral neonatal (TSVC), es una patología rara y generalmente grave, de la cual se conoce poco sobre los mecanismos fisiopatológicos responsables y, aunque controvertido, se ha sugerido que la trombofilia genética, puede desempeñar un rol en la patogénesis. Debido a los temores de un sangrado intracraneal el tratamiento anticoagulante con heparina de bajo peso mole cular es controvertido. Objetivo: presentar un recién nacido con una trombosis senovenosa cerebral neonatal, discutir los factores de riesgo trombofílico, y el manejo con heparina de bajo peso molecu lar de la trombosis venosa cerebral. Caso Clínico: Recién nacido de término que debutó a los 8 días de vida con convulsiones clónicas, rechazo al pecho más hipoactividad motora. La neuroimagen con RM mostró una TSVC involucrando múltiples senos venosos, un infarto hemorrágico talámico dere cho y congestión venosa de la sustancia blanca frontal. El estudio de trombofilia puso de relieve una mutación homocigota del gen MTHFR C677T. El tratamiento con heparina de bajo peso molecular se asoció a repermeabilización del seno sagital superior a los 23 días de iniciada la terapia. Conclusio nes: La presentación clínica de la TSVC en el neonato es inespecífica, probablemente en relación con la extensión y gravedad de la lesión y el desarrollo de complicaciones asociadas, como infartos he morrágicos venosos intraparenquimatosos o hemorragia intraventricular. Estas complicaciones son detectables mediante Ecografia o Resonancia Magnética, y deben hacer sospechar una TSVC. En esta experiencia el tratamiento anticoagulante mostró ser seguro y prevenir la extensión de la trombosis.

Abstract: Introduction: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. Objective: To present a case of a newborn with neonatal CSNT, to analyze the thrombophilic risk factors, and the management of cerebral venous thrombosis with low-molecular-weight heparin. Clinical Case: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous congestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. Conclusions: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.
Descritores: Trombose dos Seios Intracranianos/diagnóstico
Trombose dos Seios Intracranianos/etiologia
Enoxaparina/uso terapêutico
Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência
Homocistinúria/diagnóstico
Espasticidade Muscular/diagnóstico
Anticoagulantes/uso terapêutico
-Transtornos Psicóticos/complicações
Transtornos Psicóticos/diagnóstico
Transtornos Psicóticos/genética
Trombose dos Seios Intracranianos/tratamento farmacológico
Marcadores Genéticos
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Homocistinúria/complicações
Homocistinúria/genética
Homozigoto
Espasticidade Muscular/complicações
Espasticidade Muscular/genética
Mutação
Limites: Humanos
Feminino
Recém-Nascido
Tipo de Publ: Relatos de Casos
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1041583
Autor: Grotto, Rejane Maria Tommasini; Santos, Francielle Martins; Picelli, Natália; Silva, Giovanni Faria; Ferrasi, Adriana Camargo; Sarnighausen, Valéria Cristina Rodrigues; Pardini, Maria Inês de Moura Campos.
Título: HPA-1a/1b could be considered a molecular predictor of poor prognosis in chronic hepatitis C
Fonte: Rev. Soc. Bras. Med. Trop;52:e20170427, 2019. tab.
Idioma: en.
Projeto: São Paulo Research Foundation.
Resumo: Abstract INTRODUCTION: HPA polymorphism has been associated with HCV presence and fibrosis progression in chronic hepatitis C. However, it is unknown if there is an association between HPA-1 polymorphism and hepatocellular carcinoma (HCC). Therefore, this study aimed to evaluate HPA-1 polymorphism in the presence of HCC. METHODS: PCR-SSP was used to perform HPA genotyping on 76 HCV-infected patients. RESULTS: There was no association between patients with and without HCC. There was significant difference in HPA-1 genotypic frequency distribution between HCC and F1/F2 fibrosis degree. CONCLUSIONS: The HPA-1a/1b polymorphism appears to be more associated with liver damage progression than with HCC presence.
Descritores: Antígenos de Plaquetas Humanas/genética
Carcinoma Hepatocelular/virologia
Hepatite C Crônica/genética
Neoplasias Hepáticas/virologia
-Prognóstico
Marcadores Genéticos
Reação em Cadeia da Polimerase
Fatores de Risco
Carcinoma Hepatocelular/genética
Progressão da Doença
Hepatite C Crônica/virologia
Genótipo
Neoplasias Hepáticas/genética
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Feminino
Responsável: BR1.1 - BIREME



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