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Search Results: 1 - 10 of 10599 matches for " Aracely Lantigua Cruz "
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Síndrome frágil X: Mutaciones dinámicas y su repercusión en otras enfermedades genéticas
Lantigua Cruz,Aracely;
Revista Cubana de Pediatr?-a , 1997,
Abstract: in this article, it is presented an updated review of the fragile x syndrome, both of their clinical and genetics aspects. it also refers to the impact the mechanisms of this peculiar mutation have had on the explanation of genetic phenomena such as the anticipation, which are characteristic of various diseases, mainly neuromuscular and neurodegenerative diseases. finally, it deals with the present approach not only of the clinical diagnosis of the fragile x syndrome, but also of the cytogenetic and mollecular one and with its repercussion on the prenatal diagnosis.
Síndrome frágil X: Mutaciones dinámicas y su repercusión en otras enfermedades genéticas
Aracely Lantigua Cruz
Revista Cubana de Pediatr?-a , 1997,
Abstract: En este artículo se presenta una revisión actualizada del síndrome frágil X, tanto en sus aspectos clínicos como genéticos. Se hace referencia al impacto que los mecanismos de esta peculiar mutación, han tenido en la explicación de fenómenos genéticos como la anticipación, característicos de varias enfermedades fundamentalmente neuromusculares y neurodegenerativas. Finalmente, se hace referencia al enfoque actual del diagnóstico del síndrome frágil X tanto clínico como citogenético y molecular, y a su repercusión en el diagnóstico prenatal. In this article, it is presented an updated review of the fragile X syndrome, both of their clinical and genetics aspects. It also refers to the impact the mechanisms of this peculiar mutation have had on the explanation of genetic phenomena such as the anticipation, which are characteristic of various diseases, mainly neuromuscular and neurodegenerative diseases. Finally, it deals with the present approach not only of the clinical diagnosis of the fragile X syndrome, but also of the cytogenetic and mollecular one and with its repercussion on the prenatal diagnosis.
Síndrome frágil X: correlación clínica, citogenética y molecular en una familia
Lantigua Cruz,Aracely; Ravelo Amargos,Ileana; Halley,Dicky;
Revista Cubana de Pediatr?-a , 1997,
Abstract: recent studies have allowed to characterize molecularly the genetic defect or fmr-1 mutation of the fragile x syndrome. this mutation consists in variations of repetitions of the gene's cgg triplet that came from the normal range to the complete mutation, passing through intermediate ranges or premutations. due to the fact that the affected individual also shows a variable percentage of xq27.3 fragile site (fraxa) in his karyotype, it is presented in this paper a clinical and cytogenetic correlation with the molecular characterization of the fmr-1 gen carried out by 2 direct methods: southern blot and polymerase chain reaction (pcr) in 5 affected males and 5 female carriers, one of them with prenatal diagnosis. the analysis of the clinical, physical and neuropsychological characterizations previously delineated, led to the conclusion that these, as well as the fraxa frequency in percentage, are correlated among the affected males with the elongation the mutation suffers on being transmitted from one generation to another through female carriers, in whom these characteristics are heterogeneous and susceptible to overlapping as a result of genomic effect and of environmental psychofamilial factors.
Síndrome frágil X: correlación clínica, citogenética y molecular en una familia
Aracely Lantigua Cruz,Ileana Ravelo Amargos,Dicky Halley
Revista Cubana de Pediatr?-a , 1997,
Abstract: Estudios recientes han permitido caracterizar molecularmente el defecto genético o mutación FMR-1 del síndrome frágil X. Esta mutación consiste en variaciones de repeticiones del triplete CGG del gen, que varían del rango normal a la mutación completa y pasan por rangos intermedios o premutaciones. Debido a que el individuo afectado además expresa un porcentaje variable de sitio frágil Xq27.3 (FRAXA) en su cariotipo, en este trabajo se presenta una correlación clínica y citogenética con la caracterización molecular del gen FMR-1 realizada por 2 métodos directos: Southern blot y reacción en cadena de la polimerasa (PCR) en 5 varones afectados y 5 mujeres portadoras, a propósito del diagnóstico prenatal en una de ellas. El análisis de las caracterizaciones clínicas, físicas y neuropsicológicas previamente delineadas, llevaron a la conclusión de que éstas, así como la frecuencia en porcentaje de FRAXA, se correlacionan en los varones afectados con la elongación que experimenta la mutación al trasmitirse de una generación a la siguiente a través de mujeres portadoras, en quienes por otra parte, estas características son heterogéneas y susceptibles a sobrelapamiento tanto por efecto genómico como por factores ambientales psicofamiliares. Recent studies have allowed to characterize molecularly the genetic defect or FMR-1 mutation of the fragile X syndrome. This mutation consists in variations of repetitions of the gene's CGG triplet that came from the normal range to the complete mutation, passing through intermediate ranges or premutations. Due to the fact that the affected individual also shows a variable percentage of Xq27.3 fragile site (FRAXA) in his karyotype, it is presented in this paper a clinical and cytogenetic correlation with the molecular characterization of the FMR-1 gen carried out by 2 direct methods: Southern Blot and polymerase chain reaction (PCR) in 5 affected males and 5 female carriers, one of them with prenatal diagnosis. The analysis of the clinical, physical and neuropsychological characterizations previously delineated, led to the conclusion that these, as well as the FRAXA frequency in percentage, are correlated among the affected males with the elongation the mutation suffers on being transmitted from one generation to another through female carriers, in whom these characteristics are heterogeneous and susceptible to overlapping as a result of genomic effect and of environmental psychofamilial factors.
Interrupciones de embarazo por malformaciones congénitas Induced abortions due to congenital malformations
Olga Lidia Delgado Díaz,Aracely Lantigua Cruz,Georgina Cruz Martinez,Consuelo Díaz Fuentes
Revista Cubana de Medicina General Integral , 2007,
Abstract:
Prevalencia de defectos congénitos en recién nacidos Prevalence of congenital defects in newborns
Olga Lidia Delgado Díaz,Aracely Lantigua Cruz,Georgina Cruz Martínez,Consuelo Díaz Fuentes
Revista Cubana de Medicina General Integral , 2007,
Abstract: Aún hoy, las malformaciones congénitas continúan siendo un problema de salud a nivel mundial. Cuba constituye un ejemplo en su diagnóstico prenatal gracias a los programas de pesquisaje materno infantil. Realmente, aunque su prevalencia en el país es baja, anualmente se notifican casos. Por tales razones se realizó la presente investigación, en la que, mediante un estudio observacional, de corte transversal, se realiza una caracterización clínica y epidemiológica de los 389 recién nacidos con malformaciones congénitas en la provincia La Habana entre enero de 2000 y junio de 2003. La prevalencia fue de 131,4 x 10 000 nacimientos, con un aumento porcentual de 43,5 %, un promedio de aumento anual de 14,5 % y una tasa media para el período de 135,6. El mayor por ciento de defectos se presentó en su forma aislada (78,7 %) y dentro de ellos, los más frecuentes fueron la polidactilia (15,4 %), las cardiopatías (6,7 %) y la hipospadia (6,4 %). El síndrome de Down fue el defecto múltiple más frecuentemente observado. Según los resultados obtenidos se concluyó que la prevalencia al nacimiento de los defectos congénitos en la provincia no difiere a los reportados en el registro cubano y en los estudios internacionales al respecto. Even today, congenital malformations be still a health problem al world level. Cuba is an example in its prenatal diagnosis thanks to maternal-infantile screening programs. Really, although its national prevalence is low, yearly cases are reported. That is why we performed present research, in which by means of a observation and transversal study, it was possible to made a clinical and epidemiological characterization of the 389 newborns presenting with congenital malformations in Havana province from January 200 to June 2003. Prevalence was of 131.4 x 10 000 births with a percentage increase of 43.5 %, a yearly increase average of 14.5 %, and a mean rate for a period of 135.6. Great percentage of defects was present in a isolated way (78.7 %), and within them, more frequent were polydactyly (15.4 %), cardiopathies (6.7 %, and hipospadias (6.4 %). Down's syndrome was more frequent multiple defect seen. From results obtained, we conclude that prevalence of congenital defects at birth in this province, not differ with those reported in Cuban registry, and in related international studies.
Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa
Gutiérrez García,Enna; Barrios garcía,Bárbara; Carrillo Estrada,úrsula; Lantigua Cruz,Aracely;
Revista Cubana de Pediatr?-a , 2001,
Abstract: the biochemical study of 5 children who were referred to the national center of medical genetics because they were clinically suspected of suffering from an inborn error of the carbohydrate metabolism is presented. thin layer chromatography was carried out to detect these substances in urine and a band was found at the galactose level. a high level of metabolites in blood was found on quantifying them. the final diagnosis consited in demonstrating the deficiency of erythrocytic galactose-1-phosphate uridyltransferase by the spectrophotometric method. the character of carriers of the deficient gene was also proved among the parents of the 5 children.
Pelizaeus-Merzbacher: un trastorno hereditario de la mielina
García García,Ramiro; Lantigua Cruz,Aracely; Pascual Gispert,Joaquín;
Revista Cubana de Pediatr?-a , 1996,
Abstract: the clinical characteristics of 5 male patients from the same family with a diagnosis of pelizaeus-merzbacher disease are described. their main characteristic is the early onset of the disease, determined by the presence of nystagmus and by a slow progressive lost of habilities, mainly of the motor functions. these patients are compared to what has been reported in world literature.
Reflexiones sobre la atención a personas con defectos genéticos en el nivel primario de salud
del Monte Sotolongo,Elena; Vi?as Portilla,Carlos; González García,Nereida; Lantigua Cruz,Aracely;
Revista Cubana de Medicina General Integral , 2000,
Abstract: the fast development of molecular genetics has showed the need for the health care system professionals to update and enhance their knowledge of medical genetics in order to be able to undertake an efficient educational work, aimed to the prevention and control of these diseases. the family doctor due to his privileged position in primary care plays a key role in early detection and treatment.
Defectos cromosómicos y fallas reproductivas: Un estudio en 452 pacientes
Vega Conejo,Viviana; Vi?as Portilla,Carlos I.; Lantigua Cruz,Aracely; del Monte Sotolongo,Elena;
Revista Cubana de Obstetricia y Ginecolog?-a , 1999,
Abstract: the results of the chromosomal studies conducted among 452 patients who were referred to the cytogenetics laboratory of the national center of medical genetics due to reproductive failures are analyzed in this paper. these individuals were classified into 7 groups according to the indication. the lymphocyte culture technique was used to obtain the karyotype. 13 chromosome aberrations were found for a frequency of 2.9 %. there were 5 cases with mosaics of the x chromosome (1.11 %), 4 with robertsonian translocations (0.88 %), 2 with balanced translocations (0.44 %), and 2 with mosaics of nonidentified markers (0.44 %). results are discussed in connection with the criteria used for indicating these studies and with literature reports.
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