1,721,021 research outputs found
Invecchiamento della popolazione e passaggi generazionali: Questioni cliniche - Introduzione
No full textIl volume raccoglie una serie di saggi di esperti nell'ambito dell'invecchiamento e del decadimento cognitivo, sui temi dei dilemmi in ambito clinico insiti nella valutazione delle capacità decisionali e di consapevolezza anche con particolare riferimento a momenti particolari delle fasi di invecchiament
Metodologia della valutazione delle "capacità": alcune osservazioni, tra prospettive e dilemmi
No full textNel saggio vengono discusse le linee guida della valutazione delle capacità nell'anzian
Demenze Degenerative, aspetti clinici, neuropsicologici ed etici
No full textil capitolo descrive le problematiche più caratteristiche della demenz
Lo sviluppo di una procedura per la valutazione delle capacità decisionali: descrizione di casi studio
No full textIl saggio raccoglie esperienze e studi di casi relativi alla valutazione delle capacità decisional
Association of paraoxonase Gln->Arg 192 polymorphism with late-onset sporadic Alzheimer’s disease and coronary artery disease in ultraoctuagenarians.
No full textA mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with sporadic late-onset Alzheimer’s disease
No full textAlzheimer's disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes, whereas the genetic component for the sporadic form is less clear. We carried out mutation screening in exons 16 and 17 of APP, and in exons 3, 4, 5, 6, 7, 10 of PSEN1 genes in patients with the sporadic late-onset form of AD (LOAD). The aim of this study was to ascertain whether any variation in these genes, besides that of the well-known apolipoprotein E common polymorphism, could be involved in the onset of the disease. To search for the single nucleotide substitutions, we examined 172 LOAD patients by the denaturing high-performance liquid chromatography (DHPLC) technique. Only one same-sense mutation in exon 4 of PSEN1 gene (N32) was observed in this patient group. We concluded that the variation in the screened exons of the APP and PSEN1 genes, reportedly associated with familial AD, is not present in LOAD
Association of estrogen receptor α (ESR1) PvuII and XbaI polymorphisms with sporadic Alzheimer’s disease and their effect on apolipoprotein E concentrations.
No full text: Background: Many studies have shown that estrogen replacement therapy may improve cognitive function in women and reduce the risk of Alzheimer's disease ( AD). Because most of the estrogen neuroprotective effect is mediated by receptors, we studied the associations between estrogen receptor alpha (ESR1) polymorphisms (Pvu II and Xba I) and AD, and their interactions with apolipoprotein E ( APOE) polymorphism and plasma levels. Methods: ESR1 genotypes and APOE plasma concentrations were determined in a sample of AD patients and controls. Results: ESR1 PP and XX genotypes were associated with an increased risk for AD only in males ( OR = 3.6, 95% CI = 1.2 - 10.9) and conferred a relevant additional risk of AD to subjects also carrying APOE e* 4 allele ( OR = 13.3, 95% CI = 1.7 - 103.6). Mean APOE concentrations were lower in AD patients; the lowest levels were observed in male patients carrying PP and/or XX genotypes ( p = 0.006) and in patients carrying PP and/or XX genotypes together with the e* 4 allele ( p = 0.003). In AD women, ESR1 PP and XX genotypes were also associated with lower MMSE values ( p = 0.0007). Conclusion: The present data suggest that the involvement of ESR1 polymorphisms in AD onset is mediated by the regulation of apoE expression. ESR1 polymorphisms are also associated with a faster cognitive decline in the women AD patients
Variability of AChE, BChE, and ChAT Genes in the Late-Onset Form of Alzheimer’s Disease and Relationships With Response to Treatment With Donepezil and Rivastigmine .
No full textSeveral factors are believed to give rise to the late onset sporadic form of Alzheimer's disease (LOAD). We have studied the variation at the genes of three enzymes of the cholinergic system: acetylcholinesterase, butyrylcholinesterase, and choline acetyltransferase. The single nucleotide polymorphisms (SNPs) examined were: AChE rs2571598, BChE rs1355534, BChE rs1803274, and ChAT rs2177369. The sample for the case-control study was 471 LOAD patients aged 60 years or older, and 254 subjects with no neurodegenerative disorders as the control group. A significant difference in the genotype distribution between patients and controls was observed only for ChAT rs2177369, showing that the G/G genotype was to be considered a risk factor with respect to the G/A + A/A genotypes (odds ratio = 1.56; 95% Confidence Interval = 1.10-2.22; P = 0.01). Though indicating a significant association with AD onset, our results are far from definitive since contrast with the ones reported by other authors in a previous case-control study, and call for further investigations. Among patients, 171 took part in an observational study concerning the possible role of the genetic composition on the efficacy of treatment with Donepezil and Rivastigmine. We related the SNPs of the above cited genes with cognitive status measured by MMSE. Carrying an allele or a genotype of these SNPs does not seem to play a relevant role in the response to treatment with the two cholinesterase inhibitors, though some significant results were found associated with the AChE A/A genotype that had the best response when treated with Rivastigmin
A family history of dementia influences the development and the progression of late-onset Alzheimer’s disease
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