Evaluación de los testimonios infantiles en caso de abuso sexual

Cinquenes Jornades de Foment de la Investigació de la FCHS (Any 1999-2000

Amaurosis congénita de Leber y retinosis pigmentaria de inicio precoz: estudio clínico y genético

Tesis Doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología. Fecha de lectura: 13-03-200

Clínqueres Pórtland Belíticos. Síntesis y Análisis Mineralógico

[EN] The quaternary system CaO-SiO2-Al2O3-Fe2O3 has been taken into account to design five compositions of belite Portland clinkers with belite (Ca2SiO4) contents ranging from 60 to 65 wt%, located in its primary phase field of crystallization. The synthesis of these belite clinkers has been studied by high temperature microscopy, dilatometry, differential thermal analysis and thermogravimetric analysis. As a result, the optimum clinkerization temperature has been established at 1360 ± 5ºC. The quantitative phase analyses of the clinkers were carried out by X-ray powder diffraction with the Rietveld methodology. The mineralogical composition depends on the initial dosages, on the highest temperature achieved and on the time of residence at this temperature. The reaction was completed at 1365ºC during 15 min (free CaO <0.5 wt%), in those conditions the β-belite form is stabilized and the harmful transformation β→γ is avoided.[ES] Teniendo en cuenta el sistema cuaternario CaO-SiO2-Al2O3-Fe2O3, se han diseñado cinco composiciones de clínqueres Pórtland belíticos, con contenidos del 60 y del 65% en peso de belita (Ca2SiO4), situadas en su campo primario de cristalización. La síntesis de estos clínqueres belíticos se ha estudiado “in situ” por microscopía de alta temperatura, dilatometría y análisis térmico diferencial y termogravimétrico. La temperatura óptima de clinquerización, determinada con estas técnicas, ha sido de 1360 ± 5ºC. Los análisis cuantitativos de los clínqueres se llevaron a cabo por difracción de rayos-X con la metodología Rietveld. Los porcentajes de las diferentes fases dependen de las dosificaciones iniciales, de la temperatura alcanzada y del tiempo de residencia a dicha temperatura. Se ha conseguido una reacción total (%CaO libre < 0.5% en peso) tratando a 1365ºC durante 15 min, en cuyas condiciones se estabiliza la forma β de la belita y se evita la transformación perjudicial β→γ.Peer reviewe

Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutation screening in Spanish families

Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA was analyzed implementing a panel (OFTv2.1) including 39 known congenital cataracts disease genes. 62 probands from 51 families were recruited. Pathogenic or likely pathogenic variants were identified in 32 patients and 25 families; in 16 families (64%) these were de novo mutations. The mutation detection rate was 49%. Almost all reported mutations were autosomal dominant. Mutations in crystallin genes were found in 30% of the probands. Mutations in membrane proteins were detected in seven families (two in GJA3 and five in GJA8). Mutations in LIM2 and MIP were each found in three families. Other mutations detected affected EPHA2, PAX6, HSF4 and PITX3. Variants classified as of unknown significance were found in 5 families (9.8%), affecting CRYBB3, LIM2, EPHA2, ABCB6 and TDRD7. Mutations lead to different cataract phenotypes within the same familyThis research was funded by ONCE grant number 2020/0197782 and by FIS grant number PI18-1234-ISCII

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

Background: We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms. Methods: A familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patients with unbalanced genome copy number changes. Results: Discordant array-CGH and FISH results in the mother of a child with a prenatally detected 16p13.11 interstitial microduplication disclosed a balanced uncommon rearrangement in this chromosomal region. Further dosage and haplotype familial studies revealed that both the maternal grandfather and uncle had also the same 16p duplication as the proband. Genomic compensation observed in the mother probably occurred as a consequence of interchromosomal postzygotic nonallelic homologous recombination. Conclusions: We emphasize that such a dualistic strategy is essential for the full characterization of genomic rearrangements as well as for appropriate genetic counselingFISH and aCGH materials were supported by grant 08/PI1207 from Fondo de Investigaciones Sanitarias (FIS) and research project ENDOSCREEN (S2011/BMD-2396) from Comunidad de Madri

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

Contains fulltext : 89342.pdf (publisher's version ) (Open Access)PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. METHODS: 272 unrelated Spanish families, 107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP), were studied using the APEX genotyping microarray. The families were also classified by clinical criteria: 86 juveniles and 186 typical RP families. Haplotype and sequence analysis were performed to identify the second mutated allele. RESULTS: At least one-gene variant was found in 14% and 16% of the juvenile and typical RP groups respectively. Further study identified four new mutations, providing both causative changes in 11% of the families. Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. The only variant found in CERKL was p.Arg257Stop, the most frequent mutation. CONCLUSIONS: The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families. Due to the low number of characterized families, this approach should be used in tandem with other techniques

Análisis de los cambios en los hábitos del consumidor español Post-COVID-19: diferencias intergeneracionales

El objetivo de este trabajo es investigar la influencia que la pandemia COVID-19 ha tenido en el comportamiento del consumidor español. Basándose en la teoría de la cohorte generacional se estudian los cambios en los hábitos de consumo futuro y las diferencias intergeneracionales que pueden surgir entre la Generación Z, la Generación Y, la Generación X, los Baby Boomers y la Generación Silenciosa pues son los grandes acontecimientos de la historia, más que la edad, los que impactan en sus actitudes y comportamientos. Tras el análisis de fuentes secundarias (CIS3346), se descubre que, a diferencia de las generaciones más mayores, la influencia de la pandemia ha sido más notable en las generaciones más jóvenes (Generación Z y Generación Y) ya que estas afirman haberse propuesto más mejoras en diferentes aspectos relacionados con su salud y ocio y como consecuencia, sobre su consumo. Importantes implicaciones prácticas se derivan de este trabajo.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Generación Z, Generación Y, Generación X y baby boomers. Antecedentes de su satisfacción laboral como estrategia de marketing interno.

Esta investigación nace con el objetivo de proponer estrategias de marketing segmentadas para los clientes internos de la empresa, analizando los antecedentes de la satisfacción laboral. Para ello, profundiza en el estudio del impacto de variables tradicionalmente estudiadas (económicas, relativas al puesto de trabajo y conciliadoras) y examina las diferencias intergenaracionales que puedan producirse. Basándose en la última Encuesta Social Europea ronda 10, se estiman regresiones lineales para cada generación objeto de estudio. Los resultados preliminares ponen de manifiesto que, aunque para todas las generaciones, el factor que ejerce una mayor influencia sobre la satisfacción laboral es el componente social, el impacto de otras variables como la económica o las conciliadoras varían según la generación a la que pertenece el empleado. De este trabajo se derivan importantes implicaciones prácticas para la atracción y retención de talento por parte de las empresas, mejora de la satisfacción interna y, por ende, del cliente externo.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech