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Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease
Federica Sentinelli, Stefano Romeo, Fabrizio Barbetti, Andrea Berni, Emanuela Filippi, Marzia Fanelli, Mara Fallarino, Marco G Baroni
BMC Genetics , 2006, DOI: 10.1186/1471-2156-7-14
Abstract: We searched for sequence variations in the p66Shc specific region of the Shc gene and its upstream promoter by PCR-SSCP in a selected group of early onset coronary artery disease (CAD) subjects (n. 78, mean age 48.5 ± 6 years) and in 93 long-living control subjects (mean age 89 ± 6 years).The analysis revealed two variant bands. Sequencing of these variants showed two SNPs: -354T>C in the regulatory region of p66Shc locus and 92C>T in the p66 specific region (CH2). Both these variants have never been described before. The first substitution partially modifies the binding consensus sequence of the Sp1 transcription factor, and was detected only in two heterozygous carriers (1 CAD subjects and 1 control subject). The 92C>T substitution in the CH2 region consists in an amino acid substitution at codon 31 (proline to leucine, P31L), and was detected in heterozygous status only in one CAD subject. No subjects homozygous for the two newly described SNPs were found.Only two sequence variations in the p66Shc gene were observed in a total of 171 subjects, and only in heterozygotes. Our observations, in accordance to other studies, suggest that important variations in the p66Shc gene may be extremely rare and probably this gene is not involved in the genetic susceptibility to CAD.Increasing evidence indicates that reactive oxygen species (ROS) may participate in the pathogenesis of various diseases, including cardiovascular disorders. Support to this comes from the experimental demonstration that vessel walls of patients with atherosclerotic risk factors are characterized by a significant increase in vascular ROS production [1].It has been reported that the p66Shc longevity gene increases intracellular reactive oxygen species (ROS), thereby affecting the rate of oxidative damage to nucleic acids [2]. The human Shc locus (Src homologous and collagen) encodes three proteins with relative molecular masses of 46K (p46Shc), 52K (p52Shc) and 66K (p66Shc). All three proteins share a
The G-308A variant of the Tumor Necrosis Factor-α (TNF-α) gene is not associated with obesity, insulin resistance and body fat distribution
Stefano Romeo, Federica Sentinelli, Francesca Capici, Marcello Arca, Andrea Berni, Elio Vecci, Umberto Di Mario, Marco Baroni
BMC Medical Genetics , 2001, DOI: 10.1186/1471-2350-2-10
Abstract: The G-308A variant, detected by PCR amplification and Nco-1 digestion, determines the loss of a restriction site resulting in a single band of 107 bp [the (A) allele].The (A) allele frequencies of the G-308A TNFα polymorphism were 13.1% in the obese group and 14.6% in the lean subjects, with no significant difference between the two groups. Furthermore, no association was found with BMI classes, body fat distribution, HOMAIR, and metabolic abnormalities.Our study did not detect any significant association of the G-308A TNFα polymorphism with obesity or with its clinical and metabolic abnormalities in this population. Our data suggests that, in our population, the G-308A TNFα polymorphism is unlikely to play a major role in the pathogenesis of these conditions.Insulin resistance leading to defects in glucose and/or lipid metabolism is a characteristic feature of both obesity and type 2 diabetes. In obesity increased visceral fat distribution is considered important for the development of insulin resistance. Many evidences have linked Tumor Necrosis Factor-alpha (TNF-α) to the metabolic abnormalities of insulin resistance. Adipose tissue has been shown to be a site for TNF-α synthesis, with a direct correlation between levels of TNF-α, obesity and hyperinsulinemia [1]. It has been suggested that TNF may act as an important auto/paracrine regulator of fat cell function which serves to limit adipose tissue expansion, probably by inducing insulin resistance which may in turn cause metabolic disturbancesIn vitro studies on cultured cells suggested that TNF-α may exert its anti-insulin effect by suppressing the phosphorylation of the insulin receptor and its substrates [2]. In transgenic animals overexpression of TNF-α mRNA in adipose tissue is associated with insulin resistance [3]. Neutralisation of circulating TNF-α in insulin-resistant obese mouse leads to a significant increase in insulin sensitivity, suggesting that elevated TNF-α levels may contribute to development
Association of FTO Polymorphisms with Early Age of Obesity in Obese Italian Subjects
Federica Sentinelli,Michela Incani,Federica Coccia,Danila Capoccia,Valentina Maria Cambuli,Stefano Romeo,Efisio Cossu,Maria Gisella Cavallo,Frida Leonetti,Marco Giorgio Baroni
Experimental Diabetes Research , 2012, DOI: 10.1155/2012/872176
Abstract: Obesity is recognized as a major health problem worldwide. Genetic factors play a major role in obesity, and genomewide association studies have provided evidence that several common variants within the fat mass- and obesity-associated (FTO) gene are significantly associated with obesity. Very limited data is available on FTO in the Italian population. Aims of our study are to investigate: (1) the association of FTO gene SNPs rs9939609 and rs9930506 with body mass index (BMI) and obesity-related parameters in a large cohort (=752) of Italian obese subjects; (2) the association between the two FTO SNPs and age of onset of obesity. Our results demonstrate a strong association between FTO SNPs rs9939609 (<0.043) and rs9930506 (<0.029) with BMI in the Italian population. FTO rs9930506 was significantly associated with higher BMI in a G allele dose-dependent manner (BMI
Lack of effect of apolipoprotein C3 polymorphisms on indices of liver steatosis, lipid profile and insulin resistance in obese Southern Europeans
Federica Sentinelli, Stefano Romeo, Cristina Maglio, Michela Incani, Maria A Burza, Francesca Scano, Federica Coccia, Efisio Cossu, Frida Leonetti, Marco G Baroni
Lipids in Health and Disease , 2011, DOI: 10.1186/1476-511x-10-93
Abstract: To determine if the APOC3 variants alter the susceptibility of obese subjects to develop liver damage, hypertrigliceridaemia, and insulin-resistance.The study was carried out on 585 unrelated obese Italians (median body mass index BMI = 41 kg/m2) who were genotyped for the rs2854116 and rs2854117 variants. All participants underwent oral glucose tolerance tests (OGTT), with measurement of glucose, insulin, lipid parameters. Indices of insulin-resistance (HOMA and ISI) were calculated. Alanine transaminase (ALT) and aspartate transaminase (AST) were used as markers of liver injury.The study subjects were divided into two groups: those homozygous for the wild-type alleles at both SNPs (-482C and -455T alleles) and those who were carriers of at least one variant allele or both (-482T, -455C or both). Also each SNP was analysed independently. No significant differences were found in ALT and AST levels and in the lipid profile between the two groups. Insulin concentrations, glucose tolerance and insulin sensitivity were similar in the two groups.We did not identify any significant association between APOC3 polymorphisms and fatty liver disease, lipids, and insulin-resistance in obese subjects, thus not confirming the suggested role of these APOC3 gene sequence variants.Non-alcoholic fatty liver disease (NAFLD) is a multifactorial disorder arising from the interplay between genetic susceptibility and environmental influences. A large body of evidence shows that NAFLD is highly related to obesity and its metabolic consequences such as insulin resistance and dyslipidaemia [1]. In addition to altering metabolic risk, hepatic steatosis is also associated with significant liver disease in some patients. As many as 10-20% of patients with NAFLD develop steatohepatitis [1] and approximately 5% proceed to liver cirrhosis within 10 years of diagnosis [2].The hallmark of hepatic steatosis is the presence of triglycerides (TGs) stored as large lipid droplets in the cytoplasm of hepa
Altered Glucose Homeostasis Is Associated with Increased Serum Apelin Levels in Type 2 Diabetes Mellitus
Maria Gisella Cavallo, Federica Sentinelli, Ilaria Barchetta, Carmine Costantino, Michela Incani, Laura Perra, Danila Capoccia, Stefano Romeo, Efisio Cossu, Frida Leonetti, Luciano Agati, Marco G. Baroni
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0051236
Abstract: Background Apelin is an adipokine that plays a role in the regulation of glucose homeostasis and in obesity. The relationship between apelin serum concentration and dysmetabolic conditions such as type 2 diabetes (T2D) is still controversial. Aims of our study are: 1) determine the circulating levels of apelin in a large cohort of Italian subjects with T2D, T1D and in non-diabetic controls; 2) identify putative metabolic determinants of modified apelin concentrations, in order to search possible mechanism of apelin control; 3) investigate changes in apelin levels in response to sharp modifications of glucose/insulin metabolism in T2D obese subjects before and 3 days after bariatric surgery. Methods We recruited 369 subjects, 119 with T2D, 113 with T1D and 137 non-diabetic controls. All subjects underwent a complete clinical examination, including anthropometric and laboratory measurements. Serum apelin levels were determined by EIA (immunoenzyme assay). Results Patients with T2D had significantly higher serum apelin levels compared to controls (1.23±1.1 ng/mL vs 0.91±0.7 ng/mL, P<0.001) and to T1D subjects (0.73±0.39 ng/mL, P<0.001). Controls and T1D subjects did not differ significantly in apelin levels. Apelin concentrations were directly associated with fasting blood glucose (FBG), body mass index (BMI), basal Disposition Index (DI-0), age, and diagnosis of T2D at bivariate correlation analysis. Multiple regression analysis confirmed that diagnosis of T2D, basal DI-0 and FBG were all determinants of serum apelin levels independently from age and BMI. Bariatric surgery performed in a subgroup of obese diabetic subjects (n = 12) resulted in a significant reduction of apelin concentrations compared to baseline levels (P = 0.01). Conclusions Our study demonstrates that T2D, but not T1D, is associated with increased serum apelin levels compared to non-diabetic subjects. This association is dependent on impaired glucose homeostasis, and disappears after bariatric surgery, providing further evidence regarding the relationship between apelin and the regulation of glucose metabolism.
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis
Federica Sentinelli,Ilenia Minicocci,Anna Montali,Luisa Nanni,Stefano Romeo,Michela Incani,M. Gisella Cavallo,Andrea Lenzi,Marcello Arca,Marco G. Baroni
Journal of Lipids , 2013, DOI: 10.1155/2013/517943
Abstract: Background. Familial combined hyperlipidemia (FCHL), the most common genetic form of hyperlipdemia, is characterized by a strong familial clustering and by premature coronary heart disease. The FCHL locus has been mapped to human chromosome 1q21-q23. This region includes the retinoid X receptor gamma (RXRG), a nuclear factor member of the RXR superfamily, which plays important roles in lipid homeostasis. Objective. To investigate the possible role of the RXRG gene in the genetic susceptibility to FCHL. Methods. Variations in RXRG gene were searched by direct sequencing, and the identified SNPs were genotyped by PCR-RFLP in 192 FCHL individuals from 74 families and in 119 controls. Results. We identified 5 polymorphisms in the RXRG gene (rs1128977, rs2651860, rs2134095, rs283696, and rs10918169). Genotyping showed that the A-allele of rs283696 SNP was significantly associated with FCHL (corrected , ). Also the alleles of the rs10918169 and of the rs2651860 SNP were more frequent in FCHL subjects compared to those in controls, although not significantly after correction. When the clinical characteristics of the FCHL subjects were stratified by allele carrier status for each SNP, the rs2651860 SNP was significantly associated with increased levels of LDL-cholesterol and of Apo-B in T-allele carriers . Finally, haplotypes analysis with all 5 SNPs confirmed the significant association of RXRG gene with FCHL. Specifically, the haplotype containing all 3 “at-risk” alleles, significantly associated with FCHL (A-allele of rs283696, G-allele of rs10918169, and T-allele of rs2651860), showed an OR (Odds Ratio) of 2.02, . Conversely, the haplotype without all these 3 alleles was associated with a reduced risk for FCHL ( , ). The “at-risk” haplotype CTTAG was also associated with higher LDL-C . In conclusion, variation in the RXRG gene may contribute to the genetic dyslipidemia in FCHL subjects. 1. Background Familial combined hyperlipidemia (FCHL) is the most common atherogenic disorder of lipid metabolism [1, 2], typically characterized by multiple hyperlipemic phenotypes within the same individual as well as in the same family, where elevated very-low-density lipoproteins (VLDL) and/or low-density lipoproteins (LDL) or apolipoprotein B (apoB) can be detected [3–5]. FCHL shows strong genetic susceptibility and an autosomal dominant mode of inheritance with low penetrance [1, 6]. However, most of the underlying genes remain to be elucidated. A previous linkage analysis with markers from ten chromosomal regions that contain lipid-metabolism candidate genes revealed
Effectiveness and Efficiency of Educational Measures: Evaluation Practices, Indicators and Rhetoric  [PDF]
Federica Cornali
Sociology Mind (SM) , 2012, DOI: 10.4236/sm.2012.23034
Abstract: In recent years, evaluating the performance of educational organizations has sparked increasing interest and debate. Many expectations ride on the smooth operation of school systems. It is widely believed that countries’ social and economic well-being will depend to an ever greater extent on the quality of their citizens’ education: the emergence of the so-called “knowledge society”, the transformation of information and the media, and increasing specialization on the part of organizations all call for high skill profiles and levels of knowledge. Today’s education systems are required to be both effective and efficient, or in other words, to reach the goals set for them while making the best use of available resources. This paper, by presenting and discussing a case study, will analyze several dimensions of schools’ effectiveness and efficiency, highlighting the importance of selecting evaluation procedures that can provide representations that reflect the actual situation to the greatest possible extent.
UMIS: A Service for User Model Interoperability  [PDF]
Federica Cena, Roberto Furnari
Advances in Internet of Things (AIT) , 2012, DOI: 10.4236/ait.2012.24012
Abstract: In this paper we describe UMIS, a service architecture that enables user adaptive applications to exchange User Model data on the Web. UMIS provides a set of facilities that allow applications to interoperate with minimum changes in their internal logics and knowledge representation. The goal is to support the process of interoperability in three ways: providing an efficient centralized discovery service; offering a service for simple interaction for the exchange of UM value in a p2p way; and offering a negotiation mechanism to be used in case of communication hurdles (i.e. semantic ambiguities and missing response). We developed a proof-of-concept prototype of UMIS and we tested it with an existing user-adaptive application. According to our test results, our approach improves the communication with respect to standard solutions for interoperability regarding the quality of exchange, with a negligible impact on the communication costs and traffic generation.
The Impact of Acoustics and Energy Efficiency Protocols on Comfort in the Building Industry  [PDF]
Marco Caniato, Federica Bettarello
Open Journal of Civil Engineering (OJCE) , 2013, DOI: 10.4236/ojce.2013.32A005

Comfort in buildings is one of the most requested value to reach. Today, designers have to deal with so many technical features including outer appearance, air-conditioning, structural layouts, acoustic insulation and inner treatments, materials bio-compatibility, material recycling and reuse, water wasting and so on. In the same time, costumers want to buy buildings which won’t cost a lot in terms of heating and cooling as in the past. Besides, every single apartment, loft, office etc., even if there are many of them in a single building, has to be very quiet. Voluntary or compulsory standards, protocols and state laws lead the designers throughout the project and in some cases to the final in field tests too. Nevertheless, different sort of calculations, leading philosophy, expected results, parameters and tags are included in order to achieve the final aims. In this paper, energy efficiency and acoustic performances of buildings are discussed, proposing and comparing designing solutions for a specific case study.

Paul de Saint Robert: Sciences and Interdisciplinary Culture in the 19th Century  [PDF]
Federica Maffioli, Gianfranco Medici
Advances in Historical Studies (AHS) , 2014, DOI: 10.4236/ahs.2014.34019
Abstract: The Count Paul Ballada de Saint Robert (1815-1888) was an Italian scientist and important promoter of scientific culture, he succeeded in combining pure and applied science, art and social interests into one of the most elevated synthesis. Based on previous works published at the SISFA 2012 (Maffioli & Medici, 2013: pp. 313-319; Medici & Maffioli, 2013: pp. 329-336) in this paper we propose two of his many writings as demonstration of interdisciplinary of his studies: the first part is about the conclusions of Saint Robert concerning the retreat of glaciers, while the second part is about the Saint Robert scientific approach and explanation of the true meaning of the verses 22.24 of the I chant of Dante’s Purgatory.
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