Search results for " Heterogeneity"
showing 10 items of 358 documents
Epidemiology of Usher Syndrome in Valencia and Spain
2004
<b>Objective:</b> To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population. <b>Methods:</b> Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis. <b>Results:</b> 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification r…
Epidemiology of retinitis pigmentosa in the valencian community (Spain)
1995
The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while the X-linked type was very rare (1.5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X-linked families are noticeable. The result of segregation analysis showed good agreement w…
Update on Brugada Syndrome 2019
2021
Brugada syndrome (BrS) was first described in 1992 as an aberrant pattern of ST segment elevation in right precordial leads with a high incidence of sudden cardiac death (SCD) in patients with structurally normal heart. It represents 4% ∼ 12% of all SCD and 20% of SCD in patients with structurally normal heart. The extremely wide genetic heterogeneity of BrS and other inherited cardiac disorders makes this new area of genetic arrhytmology a fascinating one. This review shows the state of art in diagnosis, management, and treatment of BrS focusing all the aspects regarding genetics and Preimplant Genetic Diagnosis (PGD) of embryos, overlapping syndromes, risk stratification, familial screeni…
Light on the molecular and cellular mechanisms of bicuspid aortic valve to unveil phenotypic heterogeneity
2019
Research on bicuspid aortic valve disease (BAV) and related complications has grown in an exponential manner in the last decades. However, the current knowledge of the mechanisms underlying the development of this disease is still limited, since all clinical and surgical studies on BAV mainly focused their objects on its major vascular complications, such as ascending aortic aneurysms and dissection. It is now clear that a better understanding of the pivotal molecular and cellular pathophysiological aspects of bicuspid valve aortopathy, including natural history, phenotypic expression, histology, cellular mechanisms and pathways, is critical for improving its clinical management. This chang…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Integración de la genómica en la modelización de los tumores neuroblásticos = Integration of genomics in neuroblastic tumors modeling
2015
*Introducción: El neuroblastoma es un tumor maligno embrionario del sistema nervioso simpático con una gran heterogeneidad en la presentación clínica, morfológica y genética y en otras características biológicas. La estratificación de grupos de riesgo pretratamiento se basa en los siguientes factores: edad, estadio, histopatológica del tumor, estado del oncogén MYCN, integridad del brazo cromosómico 11q y ploidía. Por otra parte, los cambios numéricos y estructurales detectados en el perfil genético se han incluido recientemente en la estratificación terapéutica de los pacientes con bajo riesgo a recaer o morir. El amplio espectro clínico de la enfermedad va desde pacientes con neuroblastom…
Deep and Proximate Determinants of the World Income Distribution
2019
This paper studies the deep and proximate determinants of the evolution of the cross-country distribution of GDP per worker in the period 1960–2008 by a novel method based on an information criterion. We find that countries of our sample follow three distinctive growth regimes identified by two deep determinants, namely life expectancy at birth in 1960 and the share of Catholics in 1965, and that each regime is characterized by non-linearities. Growth regimes appear to be the main cause of the increased inequality and polarization, while technological catch-up, proxied by the initial level of GDP per worker, acts in the opposite direction. Finally, human capital marginally reduces polarizat…
Religious tourism and subjective well being: an empirical analysis in hajj pilgrimage
2018
Abstract This study entitled “Religious Tourism and Subjective Well-Being (SWB): An Empirical Analysis in Hajj Pilgrimage” investigated the influence of religious tourism on subjective well-being (SWB) in the case of Hajj pilgrims. The primary aim of the study was to investigate the geographic, demographic and socio-economic factors that may have considerable effects on the Hajj pilgrims’ well-being and life satisfaction. The study is conducted through an analytical methodology in which a sheer quantitative method was used involving an extensive questionnaire administered to a pool of 500 pilgrims from three continents, namely Asia, Africa and Europe in addition to pilgrims from the Gulf Co…
The role of regional competitiveness in shaping the heterogeneous impact of the Great Recession
2020
This paper assesses the employment resilience of 202 European regions to the Great Recession by investigating the role of regional competitiveness. By using the regional shift component derived from a multiple bases shift–share analysis of employment change as a measure of regional endogenous employment growth, we show that pre‐crisis regional competitiveness determinants are associated with positive performances during the crisis period. However, the variables considered explain well the different vulnerability of the economies, but less convincingly the ability to recover. Taking into account the spatial interactions among regions, results are confirmed and allow us to identify spillover …
Connecting others: Does a tertius iungens orientation shape the relationship between research networks and innovation?
2021
Research on social networks and innovation emphasizes that individuals spanning structural holes and crossing institutional boundaries have more opportunities for knowledge recombination and innovation involvement. However, transforming the potential knowledge and resources available through personal networks to attain innovation can be difficult for the focal individual. Using an ego-network approach, this study examines whether and to what extent an individual strategic orientation to cooperation (i.e. tertius iungens) contributes to strengthening the relation between two personal network properties (structural and institutional separation) and involvement in innovation. Our analysis is c…