Search results for "familia."
showing 10 items of 1006 documents
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
2014
Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…
Sobre AECE y Consejo de Europa
2002
Es una carta al director de José Vidal-Beneyto que trata temas relacionados con la Asociación Española de Cooperación Europea (AECE) y la entrada de España en el Consejo de Europa. Se desconoce si llegó a publicarse y en qué periódico.
NUOVE FAMIGLIE. PERCORSI, NODI E DIREZIONI PER L'EDUCAZIONE
2012
Sviluppo o nanismo? Verso una consapevole valutazione della crescita sostenibile e dei rischi di perdurante stasi dimensionale nell'impresa familiare…
2008
I processi di apprendimento nella piccola e micro-impresa familiare, in ordine al governo dello sviluppo e a quello del “mancato sviluppo” hanno costituito oggetto di precedenti lavori da parte di chi scrive. In particolare, si è focalizzato il tema della prolungata assenza di crescita dimensionale lungo un periodo tale da abbracciare almeno tre generazioni della famiglia proprietaria, fenomeno comunemente definito come “nanismo aziendale”. Quali sono il rischi del “nanismo”? Quali quelli connessi ad una non adeguata valutazione di una crescita dimensionale, intesa come effetto di una decisione di “uscita dal nanismo”? Come rimuovere i vincoli che contraddistinguono lo status di “impresa na…
A New Evangelization in the life of the family and the church
2018
The Church is at all times guiding the truth and credibility of the Gospel. Reflecting on the role of the New Evangelization in the family, it is worth stopping at the concept and meaning of the family. The family is holy, as St. John Paul II is a place where life is properly protected and can develop. The family is a community of people who aspires to eternal life. In Christian terms, the family is a community of parents and children built on the relationship of man and woman. As the Dogmatic Constitution on the Church of Lumen Gentium emphasizes, the family is referred to as the home church. This is where the functions of the Church are fulfilled: priesthood, royal and prophetic.
Introduzione a "La cura genitoriale"
2012
Relaciones padres-médicos en oncología: un enfoque cualitativo
2010
El objetivo de este artículo es conocer cómo los padres de niños enfermos de cáncer perciben sus relaciones con el personal sanitario, fundamentalmente con los médicos. Se ha utilizado una metodología de investigación cualitativa y grupal. La muestra la constituyen catorce madres/padres cuyos hijos hace más de dos años que han contraído la enfermedad. Los padres desean información inteligible, detallada y suficiente. La palabra cáncer tiene un gran estigma social, por lo que se intenta evitar cuando se da información a los padres y niños. La comunicación entre los médicos y padres puede tener momentos de tensión en el diagnóstico, recidivas, etc. Los padres confían en la profesionalidad de …
How Much of Familial Breast Cancer Risk is Currently Explained by the Known Genes?
2012
The need to answer the question “how much of the familial risk is currently explained by the known genes?” has increased ,and although BRCA1 and BRCA2 are considered the two major breast cancer (BC) susceptibility genes, they do not justify the entire percentage of all hereditary BC cases. The current consensus is that other BC predisposing genes could explain at least a portion of the remaining non-mutated familial cases, including not only other high- penetrance BC genes, but also moderate and low-penetrance genes. Considering these three different categories of genes, a gap of risk estimation in breast cancer can be observed. Moreover, different researchers tried to give significance to …
germline mutations in women with familial breast cancer and a relative with haematological malignancy
2009
Biallelic inactivation of the ATM gene causes ataxia-telangiectasia (A-T), a complex neurological disease associated with a high risk of leukaemias and lymphomas. Mothers of A-T children, obligate ATM heterozygote mutation carriers, have a breast cancer (BC) relative risk of about 3. The frequency of ATM carriers in BC women with a BC family history has been estimated to be 2.70%. To further our clinical understanding of familial BC and examine whether haematological malignancies are predictive of ATM germline mutation, we estimated the frequency of heterozygote mutation carriers in a series of 122 BC women with a family history of both BC and haematological malignancy and without BRCA1/2 m…