107 research outputs found

    Odd and even major indices and one-dimensional characters for classical Weyl groups

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    We define and study odd and even analogues of the major index statistics for the classical Weyl groups. More precisely, we show that the generating functions of these statistics, twisted by the one-dimensional characters of the corresponding groups, always factor in an explicit way. In particular, we obtain odd and even analogues of Carlitz's identity, of the Gessel-Simion Theorem, and a parabolic extension, and refinement, of a result of Wachs

    Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

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    Background: Among the possible candidate genes for atherosclerosis experimental data point towards the longevity gene p66(Shc). The p66(Shc) gene determines an increase of intracellular reactive oxygen species (ROS), affecting the rate of oxidative damage to nucleic acids. Knock-out p66(Shc-/-) mice show reduction of systemic oxidative stress, as well as of plasma LDL oxidation, and reduced atherogenic lesions. Thus, p66(Shc) may play a pivotal role in controlling oxidative stress and vascular dysfunction in vivo. Methods: We searched for sequence variations in the p66(Shc) 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). Results: The analysis revealed two variant bands. Sequencing of these variants showed two SNPs: -354T > C in the regulatory region of p66(Shc) 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 SpI 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. Conclusion: Only two sequence variations in the p66(Shc) 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 p66(Shc) gene may be extremely rare and probably this gene is not involved in the genetic susceptibility to CAD

    Granzyme B expression in visceral adipose tissue associates with local inflammation and glyco-metabolic alterations in obesity

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    Granzyme B (GrB) is a serine protease produced by immune and non-immune cells, able to promote multiple processes, like apoptosis, inflammation, extracellular matrix remodeling and fibrosis. GrB expression in visceral adipose tissue (VAT) was associated with tissue damage, local inflammation and insulin resistance in obesity murine model, but there is no data in humans. Aim of this study was to explore the expression of GrB in VAT from obese subjects in relation to adipose tissue injury, inflammation, metabolic alterations and GrB circulating levels. For this purpose, 85 obese individuals undergoing bariatric surgery and 35 healthy subjects (as control) were recruited at Sapienza University, Rome, Italy. Study participants underwent clinical work-up and routine biochemistry. mRNA expression of GrB in VAT and of a panel of VAT inflammatory markers was analyzed by real-time PCR. Serum GrB levels were measured by Elisa Affymetrix EBIO. We observed that 80% of obese patients expressed GrB mRNA in VAT, and GrB VAT expression was associated with the presence of local inflammation and glucose homeostasis alterations. Moreover, GrB serum levels, which were higher in obese subjects compared to non-obese healthy individuals, were associated with GrB expression in VAT and glyco-metabolic impairment. Our data show, for the first time in humans, that obese subjects with “sick” fat and altered glucose tolerance exhibit GrB expression in VAT, and suggest that GrB might contribute to obesity-related VAT inflammatory remodeling and glucose homeostasis dysregulation. Moreover, increased circulating GrB levels might represent a possible peripheral marker of VAT dysfunction in metabolic diseases

    Positive effects of Nordic Walking on anthropometric and metabolic variables in women with type 2 diabetes mellitus

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    Objectives. — Lack of physical activity predisposes people to chronic diseases including diabetes mellitus, obesity, and coronary artery diseases. Identifying forms of physical activity is warranted for prevention of these chronic diseases. Daily exercise has also been considered a significant contributing factor in the management of type 2 diabetes. Nordic Walking is shown to be easy to teach and learn, simple and adaptable to subjects with diabetes and metabolic syndrome. Nordic Walking allows training of about 90% of body muscles in the active propulsion phase, thus increasing energy expenditure by 30 to 50%. Aim of our study was to evaluate the effects of Nordic Walking structured training in a group of female patients with type 2 diabetes, looking at changes in anthropometric, metabolic and bioelectrical variables pre- and post-activities. A follow-up of 6 months after the end of the program was also performed. Equipment and methods. — Twenty women with type 2 diabetes, aged 40—65 years, were enrolled. The participants were randomized in two groups: (1) 10 women in the Nordic Walking active gr

    Prevalence of Type 1 Diabetes Autoantibodies (GADA, IA2, and IAA) in Overweight and Obese Children

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    OBJECTIVE- Little is known about the prevalence of β-cell autoantibodies in children with excess body weight. The prevalence of type 1 diabetes autoantibodies and its relation with hyperglycemia was analyzed in 686 overweight/obese children and adolescents. RESEARCH DESIGN AND METHODS - All children underwent an oral glucose tolerance test, and anti-GAD, anti-IA2, and anti-IAA autoantibodies were measured. Autoantibody prevalence was evaluated in 107 normal-weight children for comparison. RESULTS - A single autoantibody was present in 2.18% of overweight/obese subjects and 1.86% normal-weight subjects (P = NS). Postload glycemia was significantly higher in antibody-positive children (133 ± 69.9 vs. 105.4 ± 17.7 mg/dl, P < 0.0001) compared with autoantibody-negative subjects. No difference in autoantibody distribution was seen when our cohort was stratified by age, sex, SDS-BMI, pubertal stage, and homeostasis model assessment-insulin resistance (HOMA-IR). CONCLUSIONS - The 2.18% prevalence of type 1 diabetes autoantibodies is similar to that reported in nonobese children. This study provided evidence that excess body weight and insulin resistance do not influence autoantibody frequency

    Increased expression of urokinase plasminogen activator and its cognate receptor in human seminomas

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    <p>Abstract</p> <p>Background</p> <p>The urokinase plasminogen activating system (uPAS) is implicated in neoplastic progression and high tissue levels of uPAS components correlate with a poor prognosis in different human cancers. Despite that, relative few studies are available on the expression and function of the uPAS components in human seminomas. In the present study we characterized the expression of the urokinase plasminogen activator (uPA), its cognate receptor (uPAR) and the uPA inhibitors PAI-1 and PAI-2 in normal human testis and seminomas.</p> <p>Methods</p> <p>The expression of the above genes was evaluated by means of quantitative RT-PCR, western blot, zymographic analysis and immunohistochemistry.</p> <p>Results</p> <p>Quantitative RT-PCR analysis of 14 seminomas demonstrated that uPA and uPAR mRNAs were, with respect to control tissues, increased in tumor tissues by 3.80 ± 0.74 (p < 0.01) and 6.25 ± 1.18 (p < 0.01) fold, respectively. On the other hand, PAI-1 mRNA level was unchanged (1.02 ± 0.24 fold), while that of PAI-2 was significantly reduced to 0.34 ± 0.18 (p < 0.01) fold. Western blot experiments performed with protein extracts of three seminomas and normal tissues from the same patients showed that uPA protein levels were low or undetectable in normal tissues and induced in tumor tissues. On the same samples, zymographic analysis demonstrated increased uPA activity in tumor tissue extracts. Western blot experiments showed that also the uPAR protein was increased in tumor tissues by 1.83 ± 0.15 fold (p < 0.01). The increased expression of uPA and uPAR was further confirmed by immunohistochemical staining performed in 10 seminomas and autologous uninvolved peritumoral tissues. Finally, variation in the mRNA level of PAI-1 significantly correlated with tumor size.</p> <p>Conclusions</p> <p>We demonstrated the increased expression of uPA and uPAR in human seminomas with respect to normal testis tissues, which may be relevant in testicular cancer progression.</p

    Influence of FTO rs9939609 and Mediterranean diet on body composition and weight loss: a randomized clinical trial

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    Background The Mediterranean diet (MeD) plays a key role in the prevention of obesity. Among the genes involved in obesity, the Fat mass and obesity-associated gene (FTO) is one of the most known, but its interaction with MeD remained uncertain so far. Methods We carried out a study on a sample of 188 Italian subjects, analyzing their FTO rs9939609 alleles, and the difference in body composition between the baseline and a 4-weeks nutritional intervention. The sample was divided into two groups: the control group of 49 subjects, and the MeD group of 139 subjects. Results We found significant relations between MeD and both variation of total body fat (ΔTBFat) (p = 0.00) and gynoid body fat (p = 0.04). ∆TBFat (kg) demonstrated to have a significant relation with the interaction diet-gene (p = 0.04), whereas FTO was associated with the variation of total body water (p = 0.02). Conclusions MeD demonstrated to be a good nutritional treatment to reduce the body fat mass, whereas data about FTO remain uncertain. Confirming or rejecting the hypothesis of FTO and its influence on body tissues during nutritional treatments is fundamental to decide whether its effect has to be taken into consideration during both development of dietetic plans and patients monitoring. Trial Registration ClinicalTrials.gov Id: NCT01890070. Registered 01 July 2013, https://clinicaltrials.gov/ct2/show/NCT0189007
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