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Search Results: 1 - 10 of 8124 matches for " Reinaldo; Gutiérrez "
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Farmacogenética: medicina personalizada
Gutiérrez Gutiérrez,Reinaldo;
Revista Cubana de Farmacia , 2004,
Abstract: pharmacogenetics is a science that allows to identify the genetic bases of the interindividual differences in the response to drugs. this review article uses a number of published examples of differences inherited in drug-metabolizing enzimes to illustrate the importance of inheritance in the determination of the efficiency and toxicity of drugs in human beings. although their development is incipient, there are already tests for the mollecular diagnosis by which the physicians and pharmacists may select the drugs and the dosing for each patient in an individual way. the development of pharmacogenetics provides at least one way to prescribe medicines without the usual empirism and to advance towards a more personalized therapy.
Farmacogenética: medicina personalizada Pharmacogenetics: personalized medicine
Reinaldo Gutiérrez Gutiérrez
Revista Cubana de Farmacia , 2004,
Abstract: La farmacogenética es la ciencia que permite identificar las bases genéticas de las diferencias interindividuales en la respuesta a drogas. Este artículo de revisión utiliza un número de ejemplos publicados de diferencias heredadas en enzimas metabolizadoras de drogas, para ilustrar la importancia de la herencia en la determinación de la eficacia y la toxicidad de medicamentos en humanos. Aunque tienen un desarrollo incipiente, ya existen pruebas para el diagnóstico molecular mediante las cuales médicos y farmacéuticos pueden seleccionar los fármacos y las dosis para cada paciente de forma individual. El desarrollo de la farmacogenética, provee de, al menos, una vía para hacer prescripciones médicas sin el empirismo corriente e ir hacia una terapia más personalizada. Pharmacogenetics is a science that allows to identify the genetic bases of the interindividual differences in the response to drugs. This review article uses a number of published examples of differences inherited in drug-metabolizing enzimes to illustrate the importance of inheritance in the determination of the efficiency and toxicity of drugs in human beings. Although their development is incipient, there are already tests for the mollecular diagnosis by which the physicians and pharmacists may select the drugs and the dosing for each patient in an individual way. The development of pharmacogenetics provides at least one way to prescribe medicines without the usual empirism and to advance towards a more personalized therapy.
Caracterización molecular de fenilcetonúricos cubanos
Gutiérrez García,Enna; Barrios García,Bárbara; Gutiérrez Gutiérrez,Reinaldo; Damiani Rossel,Astrea;
Revista Cubana de Pediatr?-a , 2002,
Abstract: up to the present, over 500 mutations in human phenylalanine hdroxylase gene distributed along its 13 exons have been described, being exon 7 the one that has the highest number. the fact that phenylketonuria is caused by point mutations makes it necessary to use a method of rapid analysis of each individual. this study analyzes genomic dna of 28 patients suffering from phenylketonuria and their parents from different regions of cuba. amplification by the polymerase chain reaction was made in the 13 exons before applying denaturating gradient gel electrophoresis and sequencing. sixteen different mutations were found in 91% of patient?s independent chromosomes and the most frequent mutations were e280k and r261q that comes from galicia. mendel′s inheritance was proved in the patients′ parents. the most frequent mutations found in cuba do not match with those in spain and latin america.
Caracterización molecular de fenilcetonúricos cubanos
Enna Gutiérrez García,Bárbara Barrios García,Reinaldo Gutiérrez Gutiérrez,Astrea Damiani Rossel
Revista Cubana de Pediatr?-a , 2002,
Abstract: Hasta el momento se han descrito más de 500 mutaciones en el gen de la fenilalanina hidroxilasa humana (PHA), distribuidas a lo largo de sus 13 exones, y es el 7 el que posee un número mayor. El hecho de que la fenilcetonuria sea causada por mutaciones puntuales, hace necesario la utilización de un método que permita el análisis rápido de cada individuo. En este estudio se analizó el ácido desoxinucleótico (DNA) genómico de 28 pacientes fenilcetonúricos (PKU) y a sus padres, provenientes de diferentes partes de Cuba. Se realizó amplificación mediante reacción en cadena de la polimerasa (PCR) en los 13 exones, antes de efectuar el método de electroforesis en geles de gradientes desnaturalizantes (DGGE) y secuenciación. Se hallaron 16 mutaciones diferentes en el 91 % del total de cromosomas independientes de los pacientes, y fueron las mutaciones más frecuentes la E280K y la R261Q, que es originaria de Galicia. Se comprobó la herencia mendeliana en los padres. Las mutaciones más frecuentes en Cuba no coinciden con las de Espa a y América Latina. Up to the present, over 500 mutations in human phenylalanine hdroxylase gene distributed along its 13 exons have been described, being exon 7 the one that has the highest number. The fact that phenylketonuria is caused by point mutations makes it necessary to use a method of rapid analysis of each individual. This study analyzes genomic DNA of 28 patients suffering from phenylketonuria and their parents from different regions of Cuba. Amplification by the polymerase chain reaction was made in the 13 exons before applying denaturating gradient gel electrophoresis and sequencing. Sixteen different mutations were found in 91% of patient’s independent chromosomes and the most frequent mutations were E280K and R261Q that comes from Galicia. Mendel′s inheritance was proved in the patients′ parents. The most frequent mutations found in Cuba do not match with those in Spain and Latin America.
Correlación entre el genotipo y el fenotipo bioquímico en pacientes cubanos con hiperfenilalaninemias
Gutiérrez,Reinaldo; Gutiérrez,Enna; Barrios,Bárbara; Marcos,Ligia;
Revista Cubana de Pediatr?-a , 2005,
Abstract: phenylketonuria is a recessive autosomal disease caused by mutations in the gene of the phenylalanine hydroxylase enzime. it has a wide phenotypic spectrum that depends mainly on the residual activity of the enzyme. objectives: to detemine the genotype-chemical phenotype correlation in patients whose genotype is known, according to the residual activity of the mutated enzime expressed in vitro in accordance with the gene's database (http://www.mcgillca/pah/db). methods: we evaluated the biochemical and molecular data of 23 hyperphenylalaninemic individuals. the concentration of phenylalanine at birth and the tolerance to phenylalanine at 5 years of the beginning of the treatment, as well as the residual activity in vitro of each of the mutations, were taken into account. results and conclusions: according to the data base of the pah gene and of the above parameters, 12 patients had severe mutations, 10 intermediate and 1 benign. our study showed that there is a genotype-biochemical phenotype coincidence in 78.2 % of the subjects with phenylketonuria that were studied.it was proved that mutations in the pah gene are the main factor in the determination of the metabolic phenotype in patients with hyperphenylalaninemia.
Correlación entre el genotipo y el fenotipo bioquímico en pacientes cubanos con hiperfenilalaninemias CORRELATION BETWEEN THE GENOTYPE AND THE BIOCHEMICAL PHENOTYPE IN CUBAN PATIENTS WIHT HYPERPHENYLALANINEMIAS
Reinaldo Gutiérrez,Enna Gutiérrez,Bárbara Barrios,Ligia Marcos
Revista Cubana de Pediatr?-a , 2005,
Abstract: La fenilcetonuria es una enfermedad autosómica recesiva causada por mutaciones en el gen de la enzima fenilalanina hidroxilasa. Posee un amplio espectro fenotípico, que depende principalmente de la actividad residual de la enzima. Objetivos: Determinar la correlación genotipo-fenotipo bioquímico en pacientes a los que se les conoce su genotipo, de acuerdo con la actividad residual de la enzima mutada expresada in vitro, según la base de datos del gen (http://www.mcgillca/pah/db). Métodos: Evaluamos los datos bioquímicos y moleculares de 23 hiperfenilalaninémicos. Se tomó en cuenta la concentración de fenilalanina al nacimiento y la tolerancia a la fenilalanina a los 5 a os de iniciado el tratamiento, así como la actividad residual in vitro , de cada una de las mutaciones. Resultados: De acuerdo con la base de datos del gen de la enzima fenilalanina hidroxilasa y los parámetros mencionados anteriormente, 12 pacientes resultaron tener mutaciones severas, 10 intermedias y 1 benigna. Nuestro estudio mostró que existe coincidencia genotipo-fenotipo bioquímico en el 78,2 % de los individuos con fenilcetonuria estudiados. Se demostró que las mutaciones en el gen de la fenilalanina hidroxilasa son el factor principal en la determinación del fenotipo metabólico en los pacientes con hiperfenilalaninemia. Phenylketonuria is a recessive autosomal disease caused by mutations in the gene of the phenylalanine hydroxylase enzime. It has a wide phenotypic spectrum that depends mainly on the residual activity of the enzyme. Objectives: To detemine the genotype-chemical phenotype correlation in patients whose genotype is known, according to the residual activity of the mutated enzime expressed in vitro in accordance with the gene's database (http://www.mcgillca/pah/db). Methods: We evaluated the biochemical and molecular data of 23 hyperphenylalaninemic individuals. The concentration of phenylalanine at birth and the tolerance to phenylalanine at 5 years of the beginning of the treatment, as well as the residual activity in vitro of each of the mutations, were taken into account. Results and conclusions: According to the data base of the PAH gene and of the above parameters, 12 patients had severe mutations, 10 intermediate and 1 benign. Our study showed that there is a genotype-biochemical phenotype coincidence in 78.2 % of the subjects with phenylketonuria that were studied.It was proved that mutations in the PAH gene are the main factor in the determination of the metabolic phenotype in patients with hyperphenylalaninemia.
Nuevos marcadores en el diagnóstico de la artritis reumatoide New markers in the diagnosis of rheumatoid arthritis
Mónica Romero Sáez,Lino Mu?oz Cuellar,Josué Acosta Acosta,Reinaldo Gutiérrez Gutiérrez
Revista Cubana de Investigaciones Biom??dicas , 2006,
Abstract: Se hizo una revisión sobre otros marcadores de diagnóstico para la artritis reumatoidea, una de las enfermedades autoinmunes sistémicas más comunes y de amplia distribución mundial, que afecta principalmente a las mujeres y es muy agresiva en la raza negra. Su diagnóstico precoz resulta de vital importancia para evitar las deformidades articulares características y para mejorar la calidad de vida de los pacientes. Actualmente se diagnostica siguiendo los criterios de clasificación definidos por la American Rheumatism Association, entre ellos, la detección del factor reumatoideo. Hoy día se sabe que este no es patognomónico de la enfermedad porque puede estar presente en otras entidades. Se realizó una revisión de otros marcadores sexológicos que están asociados a la artritis reumatoidea y que son mucho más específicos, de manera que podría considerarse su uso en el diagnóstico precoz de esta enfermedad. A review of other diagnostic markers for rheumatoid arthritis, one of the commonest autoimmune systemic diseases, was made. It is widely spread all over the world. It mainly affects women and it is very aggressive among black people. Its early diagnosis is of vital importance to prevent the characteristic joint deformities and to improve the patients’ quality of life. At present, it is diagnosed according to the classification criteria defined by the American Rheumatism Association, among them, the detection of the rheumatoid factor. It is known that it is not pathognomonic of the disease, since it may be present in other entities. A review of other sexological markers that are associated with rheumatoid arthritis and that are much more specific was made, so that their use could be considered in the early diagnosis of this disease,
Estructura genética y diversidad de linajes de Pyricularia grisea en la zona arrocera venezolana
Zambrano,Asia Y; Vegas,Ariadne; Cardona,Reinaldo; Gutiérrez,Zulay; Demey,Jhonny R;
Interciencia , 2006,
Abstract: the genetic structure and lineage diversity of pyricularia grisea in the venezuelan rice zone were characterized using 448 monosporic isolates of p. grisea from commercial varieties, experimental lines, foreign varieties and international differential lines grown in plots during 1998, 1999 and 2000, in the barinas, cojedes, guarico and portuguesa states. characterization was made by polymerase chain reaction amplification using primers pot2-1 and pot2-2. seven lineages were identified as ven-1, ven-2, ven-3, ven-4, ven-5, ven-6 and ven-7. the study of the genetic relations between the lineages of p. grisea generated three homogenous groups, the first formed by ven-5, the second formed by the lineages ven-2, ven-3, ven-4 and ven-7, and the third by the lineages ven-1 and ven-6. frequency counts were of 76.34, 11.16, 5.58, 2.01, 2.23, 1.56 and 1.12% for ven-1 to ven-7, respectively. the equitability index fit by resampling techniques identifies the state of guarico as the "hot spot site".
Especies de género Lutzomyia (Psychodidae, Phlebotominae) en áreas de transmisión de leishmaniasis tegumentaria y visceral en el departamento de Santander, en la cordillera oriental de los Andes colombianos
Sandoval,Claudia Magaly; Gutiérrez,Reinaldo; Cárdenas,Rocío; Ferro,Cristina;
Biomédica , 2006,
Abstract: introduction. phlebotomine sand flies are the only known vectors of leishmaniasis and show an interesting biodiversity in the andean mountain range of south america. we update the registry of species prevalent in the municipalities and endemic areas of the department of santander, in the eastern range of the colombian andes. objective. to present an updated inventory and distribution of the lutzomyia species in the department of santander and to discuss some ecological aspects of the principal species of medical importance. materials and methods. phlebotomines were collected in 12 municipalities in the years 1998 to 2001 between 19:00-6:00 using cdc miniature light traps, manual aspirators on protected human baits between 18:00 and 20:00, and occasionally by direct aspiration on tree trunks between 8:00-11:00 and resting on walls at different times of the day. results. 3.972 phlebotomines of 41 species were captured, of which 16 species were new records for this area of the country. in zones of endemic american cutaneous leishmaniasis, l. gomezi, l. trapidoi, l. panamensis, l. ovallesi and l.yuilli were remarkable for their abundance, their presence within dwellings and their epidemiological relevance. in areas of visceral leishmaniasis, the most relevant species was l. longipalpis. conclusion. the significant presence of vectors within human dwellings and the prevalence of human infection are continuing evidence of household transmission of leishmania as an important public health problem in this department of colombia.
ELISA para la Identificación de los Patrones Alimentarios de Triatominae en Colombia
Farfán,Ana E.; Gutiérrez,Reinaldo; Angulo,Víctor M.;
Revista de Salud Pública , 2007, DOI: 10.1590/S0124-00642007000400013
Abstract: objective standardising the elisa technique for identifying triatomine insects' feeding behaviour. methods the elisa test was standardised by preparing 12 animal anti-specie polyclonal antisera by immunising rabbits with sera from domestic and wild animals; the sera were titred and absorbed to improve specificity. the intestinal content of fifth-instar rhodnius prolixus (previously fed on each host) was used as positive control; negative controls were obtained from triatomines without feeding. the intestinal content from 60 intradomicile r. prolixus collected in the field was processed to determine the test's effectiveness. results the high-reactivity elisa technique was standardised in detecting every blood protein in the positive controls used here. blood proteins from one or more domestic and wild hosts were detected in 70% of the intestinal content of triatomines collected in homes. bird, human, pig and goat blood were the most frequent feeding sources; blood proteins from wild animals were identified in 9.5% of them. conclusions the technique was shown to be effective in detecting blood proteins from different hosts in the intestinal content of triatomines taken from the laboratory and the field. even though domestic animals' blood was preferentially determined, the findings from wild animals' blood could indicate insect mobility probably from the wild to the domicile. this tool helps in understanding triatomines' behaviour regarding their hosts, thereby contributing to understanding chagas' disease eco-epidemiology.
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