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Biomedical subjects

E Scotti

Publications and source records attributed to E Scotti.

17 recordsLinked to original sources

Identification of SNPs, mapping and analysis of allele frequencies in two candidate genes for meat production traits: the porcine myosin heavy chain 2B (MYH4) and the skeletal muscle myosin regulatory light chain 2 (HUMMLC2B).

Myosin is one of the most important skeletal muscle proteins. It is composed of myosin heavy chains and myosin light chains that exist with different isoforms coded by different genes. We studied the porcine myosin heavy chain 2B (MYH4) and the porcine skeletal muscle myosin regulatory light chain 2 (HUMMLC2B) genes. A single nucleotide polymorphism (SNP), identified for each gene, was used for linkage mapping of MYH4 and HUMMLC2B to porcine chromosome (Sscr) 12 and Sscr 3, respectively. The mapping of these two genes was confirmed by using a porcine-rodent radiation hybrid panel, even if for MYH4 the LOD score and the retention fraction were low. Allele frequencies at the two loci were studied in a sample of 307 unrelated pigs belonging to seven different pig breeds. Moreover the distribution of the alleles at these two loci was analysed in groups of pigs with extreme divergent (positive and negative) estimated breeding values (EBV) for four meat production traits that have undergone selection in Italian heavy pigs.

Animals↗

Study of candidate genes for glycolytic potential of porcine skeletal muscle: identification and analysis of mutations, linkage and physical mapping and association with meat quality traits in pigs.

Several genes (PRKAA2, PRKAB1, PRKAB2, PRKAG3, GAA, GYS1, PYGM, ALDOA, GPI, LDHA, PGAM2 and PKM2), chosen according to their role in the regulation of the energy balance and in the glycogen metabolism and glycolysis of the skeletal muscle, were studied. Eleven single nucleotide polymorphisms (SNPs) were identified in six of these genes (PRKAB1, GAA, PYGM, LDHA, PGAM2 and PKM2). Allele frequencies were analyzed in seven different pig breeds for these loci and for a polymorphism already described for GPI and for three polymorphic sites already reported at the PRKAG3 locus (T30N, G52S and I199V). Linkage mapping assigned PYGM and LDHA to porcine chromosome (SSC) 2, PKM2 to SSC7, GAA to SSC12, PRKAB1 to SSC14 and PGAM2 to SSC18. Physical mapping, obtained by somatic cell hybrid panel analysis, confirmed the linkage assignments of PRKAB1 and GAA and localized ALDOA, PRKAB2 and GYS1 to SSC3, SSC4 and SSC6, respectively. Pigs selected for the association study, for which several meat quality traits were measured, were first genotyped at the PRKAG3 R200Q polymorphic site (RN locus), in order to exclude carriers of the 200Q allele, and then were genotyped for all the mutations considered in this work. Significant associations (P < or = 0.001) were observed for the PRKAG3 T30N and G52S polymorphic sites with meat colour (L* at 24 h post mortem). PGAM2 and PKM2 were significantly associated (P = 0.01) with drip loss percentage and glycogen content at one hour post mortem, respectively.

Animals↗

[Statine and endothelium dysfunction in diabetes].

Diabetes is associated with significant morbidity and mortality in the setting of acute coronary syndromes. Exists a progressive relationship between glucose levels and cardiovascular risk. Hyperglycemy in fact produces endothelial dysfunction recognised to be a key accessory to diabetic microangiopathy and macroangiopathy. Furthermore diabetics present high levels of cholesterol which elevate the risk of CHD. The statins, for their effects, may represent the fit therapy. The beneficial effects of statins may extend beyond improving the lipid profile. There are several proposed mechanisms for event reduction by lipid-lowering therapy, which include improved endothelium-dependent vasodilation, stabilization of atherosclerotic lesions, reduction in inflammatory stimuli, and prevention, slowed progression, or regression of atherosclerotic lesions (pleiotropic effects). Cellular experiments suggest that statins have an impact on endothelial function by preventing oxidized LDL-induced reduction of nitric oxide production and increased nitric oxide synthesis. Statins also impact chronic inflammation by reducing mitogen (PDGF) responsiveness, inhibiting smooth muscle cell proliferation, inhibiting monocyte chemotaxis and migration, and by reducing macrophage protease production. The absolute clinical benefit achieved may be greater in diabetic than in nondiabetic patients with CHD because diabetic patients have a higher absolute risk of recurrent CHD events and other atherosclerotic events.

Diabetes Complications↗

[Sweet syndrome in a female patient with intestinal multiple lipomas and diverticular disease of the colon].

Sweet's syndrome (SS), or acute febrile neutrophilic dermatosis, is a condition characterized by the sudden onset of fever, leukocytosis, and painful, erythematous, well-demarcated papules and plaques which show dense, neutrophilic infiltrates on histologic examination. Myalgias and arthralgias are common. Although it may occur in the absence of other known disease, SS is often associated with hematologic disease (including leukemia), and immunologic disease (rheumatoid arthritis, inflammatory bowel disease). A case of SS is reported. Furthermore the patient presented multiple intestinal lipomas and diverticular colon disease. The authors, on the ground of recent studies which correlate SS with several digestive system disorders, hypothesize an association between acute febrile neutrophilic dermatosis and patient's intestinal diseases. Treatment with systemic corticosteroids is usually successful.

Aged↗

[Evaluation of the anti-inflammatory effect and tolerability of tenoxicam in short-team treatment of osteoarthrosis in the aged].

The authors report their experience with short-term (10 days) tenoxicam treatment in 20 patients with osteoarthritis at various localizations. The drug was administered at the following dosages: 20 mg twice daily for the first two days, and 20 mg daily for the following 8 days. Treatment proved effective in controlling pain and functional impairment. No dropouts due to side effects nor significant changes of laboratory parameters were observed. Therefore, tenoxicam may be considered an effective and well tolerated non steroid antiinflammatory agent for the treatment of active stages of osteoarthritis.

Aged↗

Non-invasive measurement of bone: a review of clinical and research applications in the horse.

The current methods for non-invasive measurement of bone quality are reviewed. In the horse this has traditionally involved the use of radiography, but there are now two other modalities available for the critical evaluation of cortical bone quality and strength. These utilise single photon absorptiometry and ultrasound velocity. Photon absorptiometry gives a direct measurement of bone mineral content, by using a monoenergetic radionuclide source, and transverse ultrasound velocity in bone gives a measure of bone stiffness or elasticity. They can both be used conveniently on the metacarpus of the conscious horse. Both ultrasound velocity and bone mineral content can be used as accurate indicators of skeletal maturity. In addition, the effects of disuse on bone and certain types of lameness can be monitored accurately. Preliminary data show an association with exercise in young and mature horses. There also appears to be considerable scope for in vivo research of bone changes in horses produced by immobilisation, weightlessness, exercise and nutrition.

Absorptiometry, Photon↗

The hock as a potential site for non-invasive bone measurement.

An in vitro study on the calcaneus of adult horses (n = 5) and foals (n = 10) was carried out using radiographic photodensitometry, single photon absorptiometry, transmission ultrasound velocity and chemical analysis. Data for trabecular bone content, ash, calcium and phosphorus levels were obtained. As techniques for assessing bone quality, ultrasound velocity was not sufficiently sensitive nor accurate and radiographic photodensitometry was found to be limited value. Photon absorptiometry was both accurate and reproducible, although some variation in bone mineral content and bone mineral density was observed along the length of the calcaneus. Bone mineral content was estimated in a second series of fibular tarsal bones from 23 horses ranging in age from less than six months to 16 years. The photon absorptiometry technique was also applied to the hocks of four hind limbs at post mortem and two horses under general anaesthesia. It was concluded that the calcaneus was a feasible site for photon absorptiometry, but that the present equipment would require considerable modification for use in the standing horse.

Absorptiometry, Photon↗

[The gamma-glutamyl transpeptidase (GGTP) as an index for the diagnosis of chronic alcoholic cholestatic hepatitis (author's transl)].

The GGTP is an enzyme localized, in the liver cell, inside microsome. At beginning the use of the GGTP was introduced for the diagnosis of chronic hepatitis; after it was noted as this was steady increased in the cholestasis and in the alcoholism. We have, hence, wanted to experiment if the changing of the level of the GGTP allowed to us a diagnosis of chronic alcoholic hepatitis. Our research is based on seventy-five patients with several liver diseases. It has been noted as the highest levels of the GGTP have appeared in cases of chronic alcoholic hepatitis with signs, histologicals and biochemicals, o cholestasis. In fact we have, on overage, levels of 955 mU/ml in the chronic alcoholic hepatitis with signs of cholestasis and of 135 mU/ml in that without it. In conclusion the GGTP is a good index for the diagnosis of chronic alcoholic cholestatic hepatitis.

Cholestasis↗

[Variations in lymphocyte subsets in chronic inflammatory and neoplastic pathology in the elderly. II. Discriminant stepwise analysis].

The variations of lymphocyte subsets in chronic inflammatory and neoplastic diseases in an elderly population, have been previously reported. The different behavior of all the subsets that had shown significant variations of frequencies and absolute values within the groups with the Multivariate Analysis of Variance, have been studied. The use of the Discriminant Stepwise Analysis has given the chance to spot the discriminant subsets and their ability in discriminating the inflammatory and the neoplastic groups from each other and from the controls and finally in pointing out all the subsets which did not affect such differentiation.

Aged↗

[Genetic polymorphism of biotransforming enzymes and genotoxic effects of styrenes].

A cross-sectional study was carried out on laminators producing glass-fibre reinforced plastics, to evaluate the role of genetic polymorphism of xenobiotic metabolising enzymes on the genotoxicity of styrene. Clastogenic effects, evaluated by the micronucleus test, are related with end-of-shift urinary concentration of 4-vinylphenol and seem to be modulated by NQO1 polymorphism; aneuploidogenic effects, evaluated by the identification of centromers in micronuclei using the fluorescence in situ hybridisation technique with a pancentromeric probe, are related with before-shift urinary levels of mandelic and phenylglyoxylic acids and seem to be modulated by the GSTM1 polymorphism.

Adult↗

[Neuroendocrine and renal effects of inorganic lead].

In this study 371 workers occupationally exposed to inorganic Pb (range of blood lead concentrations, PbB: 100-800 microg/l) were examined in order to assess neuroendocrine and renal effects, with regard to exposure levels and ALAD polymorphism. Plasma prolactin, urinary excretion of plasmaproteins and renal tissue constituents were measured. None of such markers differed significantly between workers stratified according to PbB levels, except for heat-stable isoenzyme NAG-B: its very low prevalence of values above the upper reference limit increased significantly with increasing PbB. No significant differences were found in indicators by ALAD genotype. Our findings did not provide evidence of any renal and neuroendocrine effects in workers exposed to the current lead levels.

Adult↗

[ALAD polymorphism and indicators of dose and effects of occupational exposure to inorganic lead].

The delta-aminolevulinate dehydrase (ALAD) genetic polymorphism was investigated along with biomarkers of lead exposure and effect on 333 male workers, occupationally exposed to lead, with blood lead levels (PbB) higher than 100 microg/l. ALAD genotype frequencies were distributed as expected among Caucasians. Workers bearing at least one ALAD-2 allele showed PbB values slightly higher than those from ALAD-1-1 subjects, who also exhibited higher urinary delta-aminolevulinic acid (ALAU) and blood zinc protoporphyrin (ZPP) levels. The plasmatic lead (PbP)/PbB ratio was similar in both groups. Exposure and effect biomarkers were significantly each other correlated among ALAD-1-1 subjects only, who showed also a significant inverse relationship between ALAD activity and ZPP values. Results confirm previous studies, supporting the hypothesis that ALAD polymorphism may interfere with toxico-kinetic and toxico-dynamic parameters of occupational exposure to Pb.

Adult↗

[Heme oxygenase 1 expression in foundry workers].

Heme oxygenase 1 (HO-1) catalyses the oxidation of heme to biliverdin, and its expression is induced by oxidative stress. This study was aimed at assessing the role of metabolic polymorphisms (CYP1A1, CYP1B1, GSTM1, GSTP1, EPHX) in the modulation of HO-1 gene expression in 37 foundry workers. Blood and urine samples were obtained at the beginning (BS) and at the end (ES) of work shift, in February (T1) and June (T2). Urinary 1-hydroxypyrene (1-OHP) was measured as a tracer of PAH exposure. HO-1 gene expression in ES samples normalized to BS values (HO-1 ES/BS) was higher at T2 respect to T1. HO-1 gene induction was related to ES 1-OHP when considering either T2 samples or the combination of the two samplings. HO-1 ES/BS was significantly increased in subjects with at least a mutant allele for GSTP1 as compared to subjects with GSTP1AA genotype (1.23 +/- 0.002 vs 0.88 +/- 0.002, p < 0.05). Only in subjects with at least one vari.nt allele for GSTP1, a positive correlation between HO-1 ET/IT expression and 1-OHP FT levels was observed (r2 = 0.21, p = 0.016). The present study demonstrates a correlation between PAH exposure, as assessed by urinary 1-OHP, and the induction of HO-1 expression. Such a correlation seems to be limited to subjects bearing variant alleles for GSTP1. At the same exposure levels, these subjects showed a greater expression of HO-1 FT as compared to subjects with GSTP1 wild type genotype, possibly due to a higher oxidative stress in the subjects expressing the mutant GSTP1-1 isoform, which could imply a limited scavenging capacity.

Adult↗