Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis

Increased oxidative stress is known to play a role in the pathogenesis of atherosclerosis, and polymorphisms in genes encoding for enzymes involved in modulation of oxidant stress, such as paraoxonases (PONs), provide a potentially powerful approach to study the risk of disease susceptibility. Aim of our study is to investigate the possible association among PONs polymorphisms, clinical and metabolic factors, and atherothrombotic events in an Italian population. We evaluated in 105 subjects, with or without atherosclerotic risk factors, the presence of PON1 L55M, PON1 Q192R, and PON2 S311C genetic variants, as well as lipid profile, the concentration of aminothiols (blood reduced glutathione, plasma total glutathione, homocysteine, cysteine, cysteinyl glycine), and malondialdehyde as markers of lipid peroxidation

Comunità cooperative. Terzo rapporto sulla cooperazione sociale in Italia

Il terzo rapporto sulla cooperazione sociale fornisce vari elementi conoscitivi che consentono di definire meglio i modelli interpretativi a spiegazione del successo e della grande crescita della cooperazione sociale. Il focus del presente rapporto è pertanto rivolto sia a spiegare lo sviluppo della cooperazione sociale che il differenziarsi dei modelli organizzativi presenti al suo interno.- Indice #4- Prefazione #10- Cap.I I contenuti del terzo rapporto sulla cooperazione sociale, Carlo Borzaga e Flaviano Zandonai #18- Cap.II I dati ministeriali: una fotografia della cooperazione sociale, Gianfranco Marocchi #46- Cap.III Le cooperative sociali nel nonprofit italiano: convergenze e divergenze strutturali, Nereo Zamaro #74- Cap.IV L’inserimento lavorativo nelle cooperative sociali, Gianfranco Marocchi #98- Cap.V La cooperazione sociale a livello locale: il caso della Lombardia, Alessandro Ronchi #120- Cap.VI Peculiarità e modelli delle cooperative sociali, Carlo Borzaga e Sara Depedri #144- Cap.VII Le reti tra cooperative sociali: il fenomeno consortile, Emmanuele Pavolini #188- Cap.VIII Alcune riflessioni sulla natura imprenditoriale della cooperazione sociale, Michele Andreaus #222- Appendice #258- Dentro le regioni #260- Bibliografia #33

New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

<p>Abstract</p> <p>Background</p> <p>Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS) have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis</p> <p>Results</p> <p>Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31%) and from 69.1 to 86.2% (average 76.6%) respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%). This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg158cys; hepatic lipase -480 C/T; endothelial nitric oxide synthase 690 C/T and glu298asp; vitamin K-dependent coagulation factor seven arg353glu, glycoprotein Ia/IIa 873 G/A and E-selectin ser128arg.</p> <p>Conclusion</p> <p>This study provides an alternative and reliable method to approach complex diseases. Indeed, the application of a novel artificial intelligence-based method offers a new insight into genetic markers of sporadic ALS pointing out the existence of a strong genetic background.</p

N-terminal pro-B-type natriuretic peptide and echocardiographic abnormalities in severely obese patients: correlation with visceral fat

To gain further information on the utility of NT-proBNP as an indicator of possible preclin. cardiac disease in normotensive, severely obese individuals, we measured NT-proBNP concns. in 27 severely obese women with no complications and 15 normal-wt. patients. Serum NT-proBNP concns. were measured by the proBNP (Roche) assay. Obese patients showed impairment of several echocardiog. characteristics compared with lean individuals, and some of these differences correlated significantly with the s.c. adipose tissue (VAT) area. The most novel finding in our study is the significant correlation between NT-proBNP and echocar-diqgraphic characteristics (left ventricular mass indexed for height, left ventricular mass, end-diastolic posterior wall, end-diastolic septum thickness, myocardial performance index, early diastolic filling wave velocity) in a homogeneous population. This may indicate that NT-proBNP itself could serve as an indicator of left ventricular morpho-functional changes. NT-proBNP appears to offer possibilities for identifying preclin. cardiac disease, particularly in obese women with large amts. of visceral fat. [on SciFinder (R)

Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations

AIM: To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations. METHODS: Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members. RESULTS: Increased mtDNA copy number (p = 0.0001) was observed in ALS patients, and particularly in those with SOD1 or C9orf72 mutations. SOD1 mutation carriers showed also a significant decrease in D-loop methylation levels (p = 0.003). An inverse correlation between D-loop methylation levels and the mtDNA copy number (p = 0.0005) was observed. CONCLUSION: Demethylation of the D-loop region could represent a compensatory mechanism for mtDNA upregulation in carriers of ALS-linked SOD1 mutations