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Search Results: 1 - 10 of 483253 matches for " Luis García-Guereta "
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Williams-Beuren syndrome: Usual face, unusual heart  [PDF]
Natalia Marin Huarte, Luis García-Guereta, Pablo Lapunzina
Open Journal of Genetics (OJGen) , 2013, DOI: 10.4236/ojgen.2013.31009
Abstract: Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Su?er, Victor Martinez-Glez, Sixto García-Mi?aur, Rebeca Palomo, Alicia Delicado, Isidora Pajares, María Palomares, Luis García-Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina
BMC Medical Genetics , 2009, DOI: 10.1186/1471-2350-10-48
Abstract: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.DiGeorge syndrome (DGS) and Velocardiofacial syndrome (VCFS) are genetic disorders affecting pharyngeal and neurobehavioural development [1] that result in conotruncal congenital heart defects (CHD), velopharyngeal insufficiency, hypoparathyroidism, thymic aplasia or hypoplasia, craniofacial dysmorphism, learning difficulties and psychiatric disorders [2,3]. Interstitial microdeletions in 22q11.2 have been identified as the underlying cause in most cases of DGS [4], VCFS [5] and apparently isolated conotruncal CHD [6].Deletions in 22q11.2 cluster into a standard 3 Mb deletion in 87% of the cases, a smaller, proximally nested 1.5 Mb deletion in 7% and other atypical dele
Acta Biológica Colombiana , 2011,
Abstract: the temporal scale of our daily life is a small fraction of the evolutionary history of organisms, including the humans. the planet age is estimated in 4.5 billion years, in which profound changes in the position of continents and the climate of the earth occurred. nevertheless, most drastic changes arose just in the last 500 million years. the genetics has been a fundamental tool to infer the organismal change throughout billions, thousands and millions of years, for example through the estimation of divergence times. living organisms share the genetic material as a molecular fingerprint to trace changes in the past. thus, by using dna and protein sequences, scientists may understand how the living organisms have evolved, when important evolutionary novelties arose, how genes interact, and determine the evolutionary relationships between past and contemporary forms. the relationships among organisms are inferred by simple similarity (phenetic relationships), by sharing unique features and throughout mathematical models that describe how dna sequences or proteins evolve (phylogenetic relationships). genetics also evidences the dynamics of genomes (duplication, transposition, recombination, inversions) that results in gene gain and loss, new functions, and horizontal gene transfer, mechanisms that increase today?s existing diversity. although the environment is fundamental in the evolution of organisms, it is essential to recognize that there is a very thin and strong thread that connects us inevitably to those first molecules formed in the distant past.
Aproximación al diagnóstico diferencial de las quemaduras intencionales en los ni?os
Ceballos García,Luis;
Gaceta Médica de Caracas , 2005,
Abstract: the diagnosis of intentional burning may be too difficult to do, and because of these difficulties the serious problem of the battered child syndrome is often not recognized by the attendant physicians. the omission of the opportune diagnosis may be deleterious for the victims if they come back home. another problem regarding the same difficulties is the overdiagnosis of maltreatment. so, innocent people may be unjustly accused and prosecuted. this paper considers the differential diagnosis of intentional and non-intentional burns, and of certain pathological conditions that may mimic maltreatment.
Comités Escolares de Prevención de Accidentes y Lesiones (COMPALES)
Ceballos García,Luis;
Gaceta Médica de Caracas , 2005,
Abstract: the teaching learning pattern that is presented as an educational strategy for the prevention of accidents and unintentional injuries in children and in adolescents has, as action axis, the binomial home-school, transforming the teachers into facilitators of the program, the students in receivers and promoters of the information, and the parents in companions of the process. it incorporates statistical indicators of accidentally to incentives in the educational communities, the competition for the achievement of the best numbers of student hours without accidents. in order to stimulate the learning of the basic concepts of prevention, we appeal to the use of poetical resources
La conferencia versus la anticonferencia
Ceballos García,Luis;
Gaceta Médica de Caracas , 2006,
Abstract: both the circumstances that point out the best lecture, and the vices and mistakes of the bad one are confronted for easy comparisons. several characteristics of the lecture are analyzed: premises, prejudices, auspicious and inauspicious attitudes of the speaker, the lecture itself, the slides, the texts and the images, the technical and audiovisual resources, the location and finally, the transportation and precautions about slides, compact discs, videocassettes, and diskettes.
Un modelo educacional de prevención de quemaduras
Ceballos García,Luis;
Gaceta Médica de Caracas , 2003,
Abstract: a model of educational strategy of prevention of burns is presented, that forms part of a program instituted by asocirpla a.c., association for the burned child, in 1993, with the purpose of transmitting information to the high-risk groups: children, adolescents and young adults. to reinforce the process of internalization of concepts, abundant and simple graphic resources are used, and the texts are limited to allusive rhymed sentences to the sure behaviors that should be adopted in front of the risk factors.
Los bárbaros y los orígenes de las naciones europeas
García Moreno,Luis;
Cuadernos de historia de Espa?±a , 2006,
Abstract: this paper studies the relationship between the great invasions in the fourth to sixth centuries and the modern nations of western europe. this relation was fundamentally ideological and political. it also studies the ideological use of those assumed national identities by european intellectuals and politicians from the sixteenth century up to the nineteenth century. lastly, it analyzes the germanic invaders' socio-political and ideological features and dynamics which assisted the processes of ethnic creation in western europe in those final centuries of late antiquity and early medieval age.
La crítica entre culturas: El problema de la "recepción" en el ensayo latinoamericano
García,Luis Ignacio;
Cuyo , 2010,
Abstract: the question of the international circulation of ideas has become one of the main problems of the intellectual history's renewal in the last years. the matter has been tackled from different theoretical perspectives that had enriched the field's methodological tools. however, the problem of "reception" has been a persistent question in latin american cultures. because of its "peripheral" condition, they have faced the experience of translating different meanings since their own emergence. therefore, it is relevant to enrich those methodological discussions with the suggestions about the topic that have developed for some time in latin american essays. this paper deals with several authors and discussions that condense the many aspects of this problem. the different cases discussed contribute to outline an active conception of reception as a continuous reconfiguration of meanings, within the framework of a not esencialist conception of culture.
Entretelones de una "estética operatoria" Luis Juan Guerrero y Walter Benjamin
García,Luis Ignacio;
Prismas , 2009,
Abstract: this essay deals with the aesthetic-philosophical work of the argentinean luis juan guerrero (1899-1957), through a consideration of its early and fruitful reception of some central aspects of walter benjamin's work. it is shown that this perspective allows a privileged access to guerrero's work, at the same time that it makes more complex the image of the "anti-positivistic" intellectual generation in argentina. guerrero's forgotten work includes principally contributions on ethics, psychology and aesthetics. this essay will pay attention only to his most important work, maybe the most ambitious aesthetic work ever written in argentina: operatory aesthetics in its three directions. this aesthetic summa, although it expresses the typical features of an intellectual generation marked by german interwar culture and the concerns on the "culture crisis", it also inscribes a benjaminian anomaly, a political-materialistic inflection, that questions the frequent opinion that the "culture crisis" in those years diagnosed always showed "spiritualist" answers.
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