Search results for "GENETICA"
showing 10 items of 906 documents
Introduzione
2019
Il volume indaga le radici storiche delle malattie che oggi definiamo genetiche e/o ereditarie, ponendo le premesse terminologiche e scientifiche che stanno a fondamento della riflessione moderna e contemporanea sulla malattia genetica, qui animata dal filo della continuità e della pur forte discontinuità con il pensiero antico. In tal senso, si presenta una retrospettiva storico-critica che, affondando le proprie radici nell’indagine lessicografica dei termini fondanti il pensiero embriogenetico moderno, interroga la validità storica ed epistemica di alcuni concetti e parole-chiave dell’era post-genomica, tra cui quello di causalità, o il rapporto tra natura e cultura, per toccare il nucle…
Effects on lipoprotein subclasses of combined expression of human hepatic lipase and human apoB in transgenic rabbits
2003
Objective— The effects of combined expression of human hepatic lipase (HL) and human apolipoprotein B (apoB) on low-density lipoprotein (LDL) subclasses were examined in rabbits, a species naturally deficient in HL activity. Methods and Results— In apoB-transgenic rabbit plasma, >80% of the protein was found in the 1.006- to 1.050-g/mL fraction. Gradient gel electrophoresis (GGE) of this fraction revealed two distinct species, designated large and small LDL. A denser fraction (d=1.050 to 1.063 g/mL) contained small LDL as well as another discrete LDL subspecies, designated very small LDL. Expression of HL resulted in reductions in protein concentrations in the 1.006- to 1.050-g/mL densi…
The policy of public health genomics in Italy.
2013
Abstract Italy has a monitoring system for genetic testing, consisting in a periodic census of clinical and laboratory activities performed in the country. The experience is limited, however, concerning the translation of genomic testing for complex diseases into clinical practice. For the first time the Italian Ministry of Health has introduced a policy strategic plan on genomics and predictive medicine within the 2010–2012 National Prevention Plan. This achievement was supported by the Italian Network for Public Health Genomics (GENISAP) and will likely contribute to the integration of public health genomics into health care in the country. Our experience might be of interest not only in …
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
2013
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…
Intellectual disabilitiy in developmental age
2015
Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellec…
Vaccination with ENO1 DNA Prolongs Survival of Genetically Engineered Mice with Pancreatic Cancer
2013
Background & Aims Pancreatic ductal adenocarcinoma (PDA) is an aggressive tumor, and patients typically present with late-stage disease; rates of 5-year survival after pancreaticoduodenectomy are low. Antibodies against α-enolase (ENO1), a glycolytic enzyme, are detected in more than 60% of patients with PDA, and ENO1-specific T cells inhibit the growth of human pancreatic xenograft tumors in mice. We investigated whether an ENO1 DNA vaccine elicits antitumor immune responses and prolongs survival of mice that spontaneously develop autochthonous, lethal pancreatic carcinomas. Methods We injected and electroporated a plasmid encoding ENO1 (or a control plasmid) into Kras G12D /Cre (KC) mice …
More about genetically modified tumour vaccines
1998
Esempi di regolazione del metabolismo cellulare e dell'organismo umano
2016
Quanti sprechi ci sarebbero in una famiglia se non si riuscisse a bilanciare l’approvvigionamento di cibo deperibile con il suo consumo, prima della scadenza? E a quanti spiacevoli inconvenienti andremmo incontro se non si riuscisse a ben coordinare il prelievo di scorte alimentari, conservate in dispensa, con il loro ripristino, facendo la spesa? Sono due interrogativi che possiamo ben comprendere in quanto facenti parte della nostra vita quotidiana ma che ci aiutano a capire quale inevitabile compito deve essere costantemente mantenuto dentro una cellula, o, più faticosamente, in un organismo complesso, come l’uomo, ad esempio. La cellula in piccolo e l’organismo in grande sono consumator…
Variazioni di miRNA circolanti in casi di carcinoma mammario sottoposti a regime dietetico con oli addizionati di polifenoli
Dal 2002, quando i primi risultati relativi alla possibile associazione tra espressione di alcuni miRNA e cancro furono pubblicati, numerosi studi hanno evidenziato un intervento diretto dei miRNA nella regolazione di geni e di pathways collegati alla sviluppo tumorale. Recentemente si sta sempre più confermando l’evidenza che cambiamenti epigenetici, alterazioni molecolari e componenti bioattivi della dieta possono genericamente modificare l'espressione genica attraverso la modulazione di specifici miRNA. Scopo principale della ricerca è la valutazione dei livelli di espressione di particolari miRNA circolanti nel sangue periferico sia di donne sane che di pazienti affette da carcinoma mam…