RESUMO
BACKGROUND: Many genes have been studied to determine how they might be involved in Alzheimer's disease (AD). Estrogens have a protective effect in the central nervous system. The mechanisms of action of estrogens are mediated by two estrogen receptors (ERs), ERα and ERß. Thus, these genes could also play a role in the progression of amnesic mild cognitive impairment (MCIa) to AD. The aim of this study was to examine the role of ER single nucleotide polymorphisms (SNPs) as a risk factor for MCIa, as well as the interaction with apolipoprotein E (APOE) ε4 in the progression to AD. METHODS: 79 MCIa patients and 138 healthy controls were analyzed. SNPs were genotyped via restriction fragment length polymorphisms and real-time PCR, RT-PCR or RT-PCR (TaqMan) assays. RESULTS: There is a lack of association between MCIa patients who converted to AD and ER SNPs. APOE ε4 allele is an independent risk factor of MCIa (OR=1.86; 95% CI=1.02-3.38, p=0.042) with a high prevalence in converted subjects. APOE ε4 is able to predict the progression from MCIa patients to AD (OR=2.55; 95% CI=1.20-5.42, p=0.015). CONCLUSIONS: The presence of the APOE ε4 allele, and not the alleles of ER SNPs, is a risk factor for MCIa. Furthermore, APOE genotype seems to predict the conversion from MCIa to AD.
Assuntos
Doença de Alzheimer/genética , Apolipoproteínas E/genética , Disfunção Cognitiva/genética , Receptor beta de Estrogênio/genética , Polimorfismo Genético/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Doença de Alzheimer/diagnóstico , Apolipoproteína E4/genética , Disfunção Cognitiva/diagnóstico , Progressão da Doença , Receptor alfa de Estrogênio , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Polimorfismo de Nucleotídeo Único/genética , Modelos de Riscos Proporcionais , Fatores de RiscoRESUMO
Life span is a complex and multifactorial trait, which is shaped by genetic, epigenetic, environmental, and stochastic factors. The possibility that highly hypervariable short tandem repeats (STRs) associated with longevity has been largely explored by comparing the genotypic pools of long lived and younger individuals, but results so far have been contradictory. In view of these contradictory findings, the present study aims to investigate whether HUMTHO1 and HUMCSF1PO STRs, previously associated with longevity, exert a role as a modulator of life expectancy, as well as to assess the extent to which other autosomal STR markers are associated with human longevity in population from northern Spain. To that end, 21 autosomal microsatellite markers have been studied in 304 nonagenarian individuals (more than 90 years old) and 516 younger controls of European descent. Our results do not confirm the association found in previous studies between longevity and THO1 and CSF1PO loci. However, significant association between longevity and autosomal STR markers D12S391, D22S1045, and DS441 was observed. Even more, when we compared allelic frequency distribution of the 21 STR markers between cases and controls, we found that 6 out of the 21 STRs studied showed different allelic frequencies, thus suggesting that the genomic portrait of the human longevity is far complex and probably shaped by a high number of genomic loci.
Assuntos
Marcadores Genéticos/genética , Longevidade/genética , Repetições de Microssatélites/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Frequência do Gene , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Espanha , Adulto JovemRESUMO
The oropharingeal dysphagia is a very prevalent syndrome among the elderly, and even more among institutionalized individuals. Dysphagia is frequently caused by neurodegenerative and cerebrovascular conditions, the dementia syndrome being the most common of them, where the latest stages of the process are often accompanied by frequent swallowing problems requiring to incorporate thick foodstuffs in the diet of the elderly, such as the pudding. Nutritional supplements with a puddinglike consistency are not financed by the National Health System. Therefore, when they are needed, patients must either pay their full price for them or thicken the liquid supplements financed by the National Health System. This is normally done in an individualized way, through the powder thickeners in the market. It is a very laborious and highly changeable process regarding the resulting consistency, with a poor homogeneous aspect; thus, it is complicated to implement this method in big community dwelling. We hereby present a different way to use these financed supplements, this is: mixing them up with commercial jelly resulting in a refined product with a homogeneous texture. These supplements will remain stable in their composition and safe to be used within 5 days.
Assuntos
Transtornos de Deglutição/complicações , Suplementos Nutricionais , Géis/uso terapêutico , Suplementos Nutricionais/análise , Suplementos Nutricionais/economia , Microbiologia de Alimentos , Alimentos Formulados , Gelatina , Géis/administração & dosagem , Géis/economia , Dureza , Humanos , Paladar , Viscosidade , ÁguaAssuntos
Amiloidose/etiologia , Doença de Crohn/complicações , Nefropatias/etiologia , Adulto , Feminino , HumanosRESUMO
La disfagia orofaríngea es un síndrome muy prevalente en la población mayor, más aún entre ancianos institucionalizados. La causa más frecuente de disfagia son las enfermedades neurodegenerativas y vasculares cerebrales, especialmente la demencia, cuyas fases más avanzadas se acompañan de trastornos de glutorios frecuentes que exigen texturas espesas, tipo pudin en su alimentación. Los suplementos nutricionales de consistencia pudin no están financiados por el sistema de salud, por lo que, encaso de precisar su uso, hay que afrontar su coste o espesarlos suplementos líquidos financiables, habitualmente de forma individualizada, con espesantes comerciales en polvo. Éste es un proceso laborioso, altamente variable en la consistencia obtenida y de apariencia poco homogénea ,por lo que es difícil de aplicar en los centros geriátricos grandes. Presentamos otra forma de usar estos suplementos financiados, mezclándolos con gelatina comercial que permite obtener una apariencia pulida, con textura homogénea y que permanecen estables en su composición y seguros para su consumo durante 5 días (AU)
The oropharingeal dysphagia is a very prevalent syndrome among the elderly, and even more among institutionalized individuals. Dysphagia is frequently caused by neurodegenerative and cerebrovascular conditions, the dementia syndrome being the most common of them, where the latest stages of the process are often accompanied by frequent swallowing problems requiring to incorporate thick foodstuffs in the diet of the elderly, such as the pudding. Nutritional supplements with a pudding like consistency are not financed by the National Health System. Therefore, when they are needed, patients must either pay their full price for them or thicken the liquid supplements financed by the National Health System. This is normally done in an individualized way, through the powder thickeners in the market. It is a very laborious and highly changeable process regarding the resulting consistency, with a poor homogeneous aspect; thus, it is complicated to implement this method in big community dwelling. We here by present a different way to use these financed supplements, this is: mixing them up with commercial jelly resulting in a refined product with a homogeneous texture. These supplements will remain stable in their composition and safe to be used within 5 days (AU)