1,721,235 research outputs found
Recent developments in the knowledge of inherietd forms of hypercholesterolemia. The familial recessive hypercholesterolemia
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A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences
No full textWe describe a new class of DNA length polymorphism that is due to a variation in the number of tandem repeats associated with Alu sequences (Alu sequence-related polymorphisms). The polymerase chain reaction was used to selectively amplify a (TTA)(n) repeat identified in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase gene from genomic DNA of 41 human subjects, and the size of the amplified products was determined by gel electrophoresis. Seven alleles were found that differed in size by integrals of three nucleotides. The allele frequencies ranged from 1.5% to 52%, and the overall heterozygosity index was 62%. The polymorphic TTA repeat was located adjacent to a repetitive sequence of the Alu family. A homology search of human genomic DNA sequences for the trinucleotide TTA (at least five members in length) revealed tandem repeats in six other genes. Three of the six (TTA)(n) repeats were located adjacent to Alu sequences, and two of the three (in the genes for β-tubulin and interleukin-1α) were found to be polymorphic in length. Tandemly repetitive sequences found in association with Alu sequence may be frequent sites of length polymorphism that can be used as genetic markers for gene mapping or linkage analysis
TETRANUCLEOTIDE LENGTH POLYMORPHISM 5' OF THE ALPHA(2)-MACROGLOBULIN RECEPTOR (A2MR)/LDL RECEPTOR-RELATED PROTEIN (LRP) GENE
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Re-appraisal of cardiovascular risk prediction in healthy older people: Have you ever considered the added value of patient-perception of health status?
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Nutraceutici, nootropi naturali e funzioni cognitive
No full textIl processo d’ invecchiamento si associa a una riduzione “fisiologica” di alcune funzioni cognitive, ma anche ad un progressivo aumento della incidenza di deterioramento cognitivo e demenza. Alcuni nutrienti possono avere un ruolo protettivo nei confronti del sistema nervoso centrale, contribuendo ad aumentare la “riserva cerebrale”. In generale, la dieta mediterranea è stata associata ad una riduzione dell’incidenza di demenza e questo potrebbe derivare: 1. dall’attività antiossidante/anti-infiammatoria di alcuni suoi nutrienti; 2. dalla riduzione dei fattori di rischio di aterosclerosi che si associa a danno cerebrale e deterioramento cognitivo. Per quanto riguarda alimenti specifici, la carenza alimentare di acidi grassi omega 3 e vitamine del gruppo B e folati è associata alla comparsa di disturbi cognitivi. Al contrario, livelli plasmatici elevati di vitamine del gruppo B, vit. A, C ed E sono stati associati ad una riduzione della prevalenza/incidenza di demenza. Dati molto incoraggianti provengono anche dall’uso in vitro o in animali da esperimento di antiossidanti naturali come i polifenoli contenuti in numerose bacche (uva, mirtilli, lamponi), nella curcuma longa (curcumina) e nel vino (resveratrolo). Per quanto riguarda i nootropi naturali, in molti casi sia il loro meccanismo d'azione che la reale efficacia sulle funzioni cognitive non sono stati dimostrati con certezza. Tra essi vanno ricordati il Ginkgo Biloba, la Huperzia serrata e la caffeina. Nel complesso, l’uso di supplementi nutrizionali contenenti acidi grassi omega-3, vitamine, antiossidanti o sostanze nootrope ha dato risultati assai incoraggianti negli animali da esperimento; tuttavia, la carenza di studi randomizzati controllati nell’uomo non consente ad oggi conclusioni definitive
Physical Disability in the Elderly with Diabetes: Epidemiology and Mechanisms
No full textDiabetes mellitus is a common chronic condition worldwide, especially in the elderly population. Several epidemiologic studies in the last 2 years have consistently associated diabetes with physical disability, a condition that may profoundly affect the quality of life of older people. Although in older people with diabetes, the pathogenesis of functional limitation and disability has not been completely elucidated, it is certainly complex and involves multiple potential pathways. In this narrative review, we described the most recent epidemiologic and clinical evidence supporting the association between diabetes and impaired physical function in older persons focusing on emerging biological mechanisms explaining the excess risk of disability associated with diabetes
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