Search results for "Angel"
showing 10 items of 287 documents
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
2012
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have identified a 69 kb deletion including the 5′ region of the DYRK1A gene in a patient with growth retardation, primary microcephaly, facial dysmorphism, seizures, ataxic gait, absent speech and ID. Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microd…
Inhibition of Trypanosoma cruzi growth by medical plant extracts
2002
This study describes the screening of extracts obtained from 18 plants and two fungi used in the Chinese and Mediterranean traditional medicines on epimastigote forms of Trypanosoma cruzi. The extracts were tested against epimastigote of T. cruzi Bra C15C2 clone in vitro at 27 degrees C and at a concentration of 250 microg/ml in axenic culture. Angelica dahurica, A. pubescens, A. sinensis, Astragalus membranaceus, Coptis chinensis, Haplophyllum hispanicum, Phellodendron amurense, Poria cocos, Ranunculus sceleratus and Scutellaria baicalensis showed significant effects against the parasite with a percentage of growth inhibition between 20 and 100%. C. chinensis and R. sceleratus showed the g…
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndr…
2010
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-delete…
Emprendimiento en personas con discapacidad. Un diagnóstico a través de la técnica de grupo nominal
2018
The aim of this work is to identify the dimensions and aspects that foster and / or restrict the entrepreneurial action of disabled people from a qualitative methodological perspective. The analysis was carried out by means of the nominal group technique. As a result of the analysis, this work proposes, through the work done with disabled people, a set of interventions that will reduce barriers and foster the entrepreneurship of such vulnerable group
Gozos a nuestra Señora del Consuelo, venerada en el Coro del Convento de nuestra Señora de los Angeles, Religiosas Franciscas, de Ruzafa
1750
El full orlat Grav. xil. enmarcat de "Nra. Sra. del Consuelo", flanquejat per ornaments florals Text del goig a tres col. separades per bandes
“Mariani, Angelo”
2008
Angelo Mariani fu il primo direttore d'orchestra italiano in senso moderno,ossia il primo a unire in sé le due figura di "primo violino" e "maestro concertatore". La presente voce ricostruisce la sua biografia e ripercorre gli aspetti principali della sua attività direttoriale, a cominciare dal rapporto con Giuseppe Verdi
Autorytet Biblii w tradycji ewangelickiej
2011
The Bible in protestant tradition inherits exceptional meaning. There is nothing else along with the Bible that would present of equal or similar value for evangelical theology. Highest merits for elaborating such great respect to the Holy Scripture shall be awarded to the Father of Reformation – Martin Luther. In accordance with the sola scriptura reformative rule formed by him, the only normative value in the life and faith of Evangelical Churches is presented by the Bible. Such position is adopted by all post-Reformation Churches continuously. The rejection of Magisterium Ecclesiae may however lead to the risk of polysemantic and subjective interpretation of biblical chapters by the wors…
Poglądy gospodarcze Marcina Lutra
2018
The 500th anniversary of the Reformation gave a perfect opportunity to remind and reflect on the most important issues of its father, Martin Luther. Although the socio- -economic problems were not the main ideas of his teaching, the Reformer from Wittenberg quite frequently raised questions which concerned the following topics: property and wealth, fair price and usury, professional work and vocation. Obviously Martin Luther did not create any specific and coherent system of economic ethics, but his socio-ethical reflections remain until today an important basis for contemporary Evangelical business ethics characterized, among others, by: individualism, creativity, familiarity, patriotism, …
Angels carrying crowns on the images of martyrs. Origin of the iconographic type
2013
Este artículo pretende explicar el origen de las imágenes de los ángeles portando coronas a los mártires, señalando para ello la relación de las coronas con los mártires desde la época paleocristiana, cómo éstas empezaron a ser portadas por ángeles, y los diferentes tipos de coronas que pueden portar según las distintas épocas. This article tries to explain the origin of the images of angels carrying crowns to the martyrs; to this end, it points out the relationship of the crowns with the martyrs from Early Christian period, the way these crowns began to be carried by angels, and the different types of crowns they could carry depending on different periods.