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Search Results: 1 - 10 of 484757 matches for " C. Santacruz-Valdés "
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Distrofia corneal granular autosómica dominante causada por mutación del gen TGFBI en una familia mexicana
Zenteno,J.C.; Santacruz-Valdés,C.; Ramírez-Miranda,A.;
Archivos de la Sociedad Espa?ola de Oftalmología , 2006, DOI: 10.4321/S0365-66912006000700004
Abstract: objective: to describe the clinical data and the results of molecular analyses of the tgfbi gene in a patient with classic granular stromal corneal dystrophy (type i). methods: a female patient aged 60-years complaining of a long-standing decrease of visual acuity bilaterally associated with photophobia and foreign body sensation, underwent a complete ophthalmologic examination. molecular analyses of dna from the patient and from an affected brother included pcr amplification of exons 4, 11, 12, and 14 of the tgfbi gene and direct automated sequencing of the pcr products. results: the affected patient showed a pattern of corneal stromal lesions that was compatible with a diagnosis of classic granular dystrophy. no involvement of other corneal layers was evident. molecular analysis disclosed a point mutation in exon 14 of the tgfbi gene which consisted of an adenine to guanine change at nucleotide position 1924, predicting a substitution of arginine instead of histidine at residue 626 of the tgfbi protein (h626r). an identical mutation was detected in dna from her affected brother. conclusions: this is the first time that a case of stromal granular dystrophy has been demonstrated to be caused by the h626r mutation, a molecular defect classically detected in the phenotypically distinct lattice corneal dystrophy. our data indicate that the same molecular defects in the tgfbi gene lead to different phenotypes in stromal dystrophies, thus expanding the genotypic-phenotypic spectrum in this group of corneal diseases.
Distrofia corneal granular autosómica dominante causada por mutación del gen TGFBI en una familia mexicana Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a mexican family
J.C. Zenteno,C. Santacruz-Valdés,A. Ramírez-Miranda
Archivos de la Sociedad Espa?ola de Oftalmología , 2006,
Abstract: Objetivo: Las distrofias corneales son un grupo de alteraciones hereditarias en las que una acumulación progresiva de material amiloide, hialino o mixto en las distintas capas corneales produce disminución de la transparencia corneal. Se describen las características clínicas y los estudios moleculares del gen TGFBI en una paciente Mexicana con una distrofia corneal estromal de tipo granular. Métodos: Examen oftalmológico completo, caracterización fenotípica de la distrofia corneal, y análisis del gen TGFBI por reacción en cadena de la polimerasa (PCR) y por secuenciación nucleotídica, en DNA de la propósita y de un hermano afectado. Resultados: Las lesiones corneales observadas en la paciente fueron compatibles con el diagnóstico de distrofia corneal estromal de tipo granular (clásica). No se observaron lesiones en las otras capas corneales. El análisis del gen TGFBI en DNA de la paciente y de un hermano afectado reveló una mutación puntual, de adenina a guanina, en el exón 14 de TGFBI que origina un cambio de histidina a arginina en el aminoácido 626 (H626R) de la proteína TGFBI. Conclusiones: éste es el primer caso en el que se demuestra que una distrofia corneal granular es causada por la mutación H626R en TGFBI. Esta mutación ha sido reportada consistentemente en la distrofia estromal de tipo empalizada, clínicamente diferente a la granular. Nuestros datos indican que existen excepciones en la aparente correlación genotipo-fenoitipo establecida en el grupo de distrofias corneales asociadas a mutación en el gen TGFBI. Objective: To describe the clinical data and the results of molecular analyses of the TGFBI gene in a patient with classic granular stromal corneal dystrophy (type I). Methods: A female patient aged 60-years complaining of a long-standing decrease of visual acuity bilaterally associated with photophobia and foreign body sensation, underwent a complete ophthalmologic examination. Molecular analyses of DNA from the patient and from an affected brother included PCR amplification of exons 4, 11, 12, and 14 of the TGFBI gene and direct automated sequencing of the PCR products. Results: The affected patient showed a pattern of corneal stromal lesions that was compatible with a diagnosis of classic granular dystrophy. No involvement of other corneal layers was evident. Molecular analysis disclosed a point mutation in exon 14 of the TGFBI gene which consisted of an adenine to guanine change at nucleotide position 1924, predicting a substitution of arginine instead of histidine at residue 626 of the TGFBI protein (H626R). An identical mutation
Caracterización genética de adenovirus aislados de conjuntivitis folicular y queratoconjuntivitis epidémica en un grupo de pacientes mexicanos
Mejía-López,H.; Santacruz-Valdés,C.; Matías-Florentino,M.;
Archivos de la Sociedad Espa?ola de Oftalmología , 2008, DOI: 10.4321/S0365-66912008000300006
Abstract: objetive: to determine the adenovirus serotype in mexican patients with folicular conjunctivitis and keratoconjunctivitis. methods: adenovirus-specific pcr was used to analyze sample scrapings from the inferior fornix of patients with follicular conjunctivitis and clinical suspicion of adenovirus from january 2005 to december 2006. identification of the serotype was made by automated sequencing. the nucleotide sequences obtained were compared with the reported sequences in genbank. descriptive statistical analyses were performed on the results. results: of the 77 samples with clinical data of follicular conjunctivitis that were analyzed, 43 (56%) presented adenovirus. the sequencing of each positive sample allowed the identification of ad1, ad2, ad3 and ad8; the sequences of the serotype were identical those reported in genbank with accession numbers: af 534906 and ay 224420 for a sequence of the gene coding for the filament of ad1 and ad2 respectively, and ay 854180 and dq 149614 for a sequence of the gene that codes for the hexon protein of ad3 and ad8 respectively. from the statistical analysis it was possible to determine that a preferential seasonality of the serotype does not exist. conclusion: in this work the ad1, ad2 and ad3 serotypes were identified in patients with clinical diagnosis of follicular conjunctivitis in 2005. ad2 was the predominant serotype. ad8 was also detected in an outbreak of epidemic keratoconjunctivitis. from an epidemiological point of view, no serotype found seems to have a preferred seasonality.
Caracterización genética de adenovirus aislados de conjuntivitis folicular y queratoconjuntivitis epidémica en un grupo de pacientes mexicanos Genetic characterization of adenovirus isolated from follicular conjunctivitis and epidemic keratoconjuntivitis in a group of mexican patients
H. Mejía-López,C. Santacruz-Valdés,M. Matías-Florentino
Archivos de la Sociedad Espa?ola de Oftalmología , 2008,
Abstract: Objetivo: Conocer los serotipos de adenovirus en pacientes mexicanos con conjuntivitis folicular y queratoconjuntivitis. Métodos: Se analizaron por PCR específica para adenovirus, muestras de fondo de saco conjuntival inferior de 77 pacientes diagnosticados con conjuntivitis folicular por sospecha clínica de infección por adenovirus, de enero de 2005 a diciembre de 2006. La identificación de los serotipos se realizó por secuenciación automatizada. Las secuencias de nucleótidos obtenidos fueron comparados con las secuencias reportadas en el GenBank. En el análisis de los resultados se utilizó la estadística descriptiva. Resultados: Se analizaron 77 muestras de las cuales el 56% presentaron adenovirus. La secuenciación de cada muestra positiva permitió la identificación de Ad1, Ad2, Ad3 y Ad8; las secuencias de los serotipos fueron idénticas a las reportadas en el GenBank con las direcciones: AF 534906 y AY 224420 para una secuencia del gen que codifica el filamento de Ad1 y Ad2 respectivamente y AY 854180 y DQ 149614 para una secuencia del gen que codifica la proteína Hexón de Ad3 y Ad8 respectivamente. En el análisis estadístico, se pudo observar que no existe, en apariencia, una estacionalidad preferencial de los serotipos identificados. Conclusiones: En este trabajo se identificaron los serotipos Ad1, Ad2 y Ad3 en pacientes con diagnóstico clínico de conjuntivitis folicular en el 2005, Ad2 fue el serotipo predominante. También se detectó en un brote de queratoconjuntivitis epidémica por Ad8. Desde el punto de vista epidemiológico, ningún serotipo encontrado parece tener estacionalidad preferente. Objetive: To determine the adenovirus serotype in Mexican patients with folicular conjunctivitis and keratoconjunctivitis. Methods: Adenovirus-specific PCR was used to analyze sample scrapings from the inferior fornix of patients with follicular conjunctivitis and clinical suspicion of adenovirus from January 2005 to December 2006. Identification of the serotype was made by automated sequencing. The nucleotide sequences obtained were compared with the reported sequences in GenBank. Descriptive statistical analyses were performed on the results. Results: Of the 77 samples with clinical data of follicular conjunctivitis that were analyzed, 43 (56%) presented adenovirus. The sequencing of each positive sample allowed the identification of Ad1, Ad2, Ad3 and Ad8; the sequences of the serotype were identical those reported in GenBank with accession numbers: AF 534906 and AY 224420 for a sequence of the gene coding for the filament of Ad1 and Ad2 respectively, and A
Analysis and Optimization of Bulk DNA Sampling with Binary Scoring for Germplasm Characterization
M. Humberto Reyes-Valdés, Amalio Santacruz-Varela, Octavio Martínez, June Simpson, Corina Hayano-Kanashiro, Celso Cortés-Romero
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0079936
Abstract: The strategy of bulk DNA sampling has been a valuable method for studying large numbers of individuals through genetic markers. The application of this strategy for discrimination among germplasm sources was analyzed through information theory, considering the case of polymorphic alleles scored binarily for their presence or absence in DNA pools. We defined the informativeness of a set of marker loci in bulks as the mutual information between genotype and population identity, composed by two terms: diversity and noise. The first term is the entropy of bulk genotypes, whereas the noise term is measured through the conditional entropy of bulk genotypes given germplasm sources. Thus, optimizing marker information implies increasing diversity and reducing noise. Simple formulas were devised to estimate marker information per allele from a set of estimated allele frequencies across populations. As an example, they allowed optimization of bulk size for SSR genotyping in maize, from allele frequencies estimated in a sample of 56 maize populations. It was found that a sample of 30 plants from a random mating population is adequate for maize germplasm SSR characterization. We analyzed the use of divided bulks to overcome the allele dilution problem in DNA pools, and concluded that samples of 30 plants divided into three bulks of 10 plants are efficient to characterize maize germplasm sources through SSR with a good control of the dilution problem. We estimated the informativeness of 30 SSR loci from the estimated allele frequencies in maize populations, and found a wide variation of marker informativeness, which positively correlated with the number of alleles per locus.
Antecedentes históricos de la economía de la salud y su evolución en Cuba
César Valdés,Julio César;
MEDISAN , 2010,
Abstract: historical background of the emergence of the health economy are exposed, emphasizing the achievement of an appropriate correlation between economy and health, which was an absurdity in past times. it is also carried out a periodization of this branch in cuba up to date, as well as an analysis of main reforms of the health sector in the international sphere.
Antecedentes históricos de la economía de la salud y su evolución en Cuba Historical background of the health economy and its evolution in Cuba
Julio César César Valdés
MEDISAN , 2010,
Abstract: Se exponen los antecedentes históricos del surgimiento de la economía de la salud, con énfasis en el logro de una adecuada correlación entre economía y salud, lo cual resultaba un absurdo en tiempos pasados. También se realiza una periodización de esta rama en Cuba hasta los momentos actuales, así como un análisis de las principales reformas del sector sanitario en el ámbito internacional. Historical background of the emergence of the health economy are exposed, emphasizing the achievement of an appropriate correlation between economy and health, which was an absurdity in past times. It is also carried out a periodization of this branch in Cuba up to date, as well as an analysis of main reforms of the health sector in the international sphere.
Necesidad de las notas de alcance de los calificadores en la "Introducción" del tesauro Descriptores en Ciencias de la Salud (DeCS)
Manuela de la C Valdés Abreu
ACIMED , 1996,
Abstract:
Las normas ISO relacionadas con la documentación y la información. Bibliografía comentada.
Manuela de la C Valdés Abreu
ACIMED , 1996,
Abstract:
Brain Findings Associated with Iodine Deficiency Identified by Magnetic Resonance Methods: A Systematic Review  [PDF]
Maria del C. Valdés Hernández, Kirsty L. Wilson, Emilie Combet, Joanna M. Wardlaw
Open Journal of Radiology (OJRad) , 2013, DOI: 10.4236/ojrad.2013.34030
Abstract:

Objectives: Iodine deficiency (ID) is a common cause of preventable brain damage and mental retardation worldwide, according to the World Health Organisation. It may adversely affect brain maturation processes that potentially result in structural and metabolic brain abnormalities, visible on Magnetic Resonance (MR) techniques. Currently, however, there has been no review of the appearance of these brain changes on MR methods. Methods: A systematic review was conducted using 3 online search databases (Medline, Embase and Web of Knowledge) using multiple combinations of the following search terms: iodine, iodine deficiency, magnetic resonance, MRI, MRS, brain, imaging and iodine deficiency disorders (i.e. hypothyroxinaemia, congenital hypothyroidism, hypothyroidism and cretinism). Results: Up to May 2013, 1673 related papers were found. Of these, 29 studies confirmed their findings directly using MR Imaging and/or MR Spectroscopy. Of them, 28 were in humans and involved 157 subjects, 46 of whom had primary hypothyroidism, 97 had congenital hypothyroidism, 3 had endemic cretinism and 11 had subclinical hypothyroidism. The studies were small, with a mean relevant sample size of 6, median 2, range 1 - 35, while 14 studies were individual case reports. T1-weighted was the most commonly used MRI sequence (20/29 studies) and 1.5 Tesla was the most commonly used magnet strength (6/10 studies that provided this information). Pituitary abnormalities (18/29 studies) and cerebellar atrophy (3/29 studies) were the most prevalent brain abnormalities found. Only fMRI studies (3/29) reported cognition-related abnormalities but the brain changes found were limited to a visual description in all studies. Conclusions: More studies that use MR methods to identify changes on brain volume or other global structural abnormalities and explain the mechanism of ID causing thyroid dysfunction and hence cognitive damage are required. Given the role of MR techniques in cognitive studies, this review provides a starting point for researching the macroscopic structural brain changes caused by ID.

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