Publications (28)79.52 Total impact
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Article: Association of TIMP-1 +372 SNP with digital ulcer manifestation in female systemic sclerosis patients.
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ABSTRACT: A candidate gene for TIMP-1 gene located on the X-chromosome (rs4898) was selected for a control case study to investigate a possible association of this SNP with the susceptibility to systemic sclerosis and its digit ulcer manifestation. A total of 461 individuals of Italian Caucasian origin (228 SSc patients and 233 healthy control subjects) were genotyped for TIMP-1 +372 T/C single nucleotide polymorphism rs4898. Subgroups were analyzed according to the presence or absence of digital ulcers. The CC genotype and C allele frequencies were significantly lower in female SSc patients than in controls (OR 0.53, CI 0.29-0.96, p=0.03 and OR 0.72, CI 0.53-0.98 p=0.04, respectively). CC genotypes frequency was lower also in female patients with ulcers than those without ulcers (OR 0.37, CI 0.14-1.00, p=0.03). Furthermore, CC genotype and C allele frequencies were lower also in female patients with ulcers in comparison to female healthy control subjects (OR 0.27, CI 0.10-0.70, p=0.004; OR 0.60, CI 0.40-0.89, p=0.01, respectively). The TIMP-1 rs4898 polymorphism may play a protective role in the susceptibility to SSC in females, and in particular to digital ulcer formation.Human immunology 07/2012; 73(9):950-3. · 2.55 Impact Factor -
Article: Ultrastructural and spectrophotometric study on the effects of putative triggers on aortic valve interstitial cells in in vitro models simulating metastatic calcification.
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ABSTRACT: Metastatic calcification of cardiac valves is a common complication in patients affected by chronic renal failure. In this study, primary bovine aortic valve interstitial cells (AVICs) were subjected to pro-calcific treatments consisting in cell stimulation with (i) elevated inorganic phosphate (Pi = 3 mM), to simulate hyperphosphatemic conditions; (ii) bacterial endotoxin lipopolysaccharide (LPS), simulating direct effects by microbial agents; and (iii) conditioned media (CM) derived from cultures of either LPS-stimulated heterogenic macrophages (commercial murine RAW264.7 cells) or LPS-stimulated fresh allogenic monocytes/macrophages (bCM), simulating consequent inflammatory responses, alone or combined. Compared to control cultures, spectrophotometric assays revealed shared treatment-dependent higher values of both calcium amounts and alkaline phosphatase activity for cultures involving the presence of elevated Pi. Ultrastructurally, shared peculiar pro-calcific degeneration patterns were exhibited by AVICs from these latter cultures irrespectively of the additional treatments. Disappearance of all cytomembranes and concurrent formation of material showing positivity to Cuprolinic Blue and co-localizing with silver precipitation were followed by the outcropping of such a material, which transformed in layers outlining the dead cells. Subsequent budding of these layers resulted in the formation of bubbling bodies and concentrically laminated calcospherulae mirroring those in actual soft tissue calcification. In conclusion, the in vitro models employed appear to be reliable tools for simulating metastatic calcification and indicate that hyperphosphatemic-like conditions could trigger valve calcification per se, with LPS and allogenic macrophage-derived secretory products acting as possible calcific enhancers via inflammatory responses.The Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology 05/2012; 295(7):1117-27. · 1.47 Impact Factor -
Article: Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study.
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ABSTRACT: INTRODUCTION: We aimed to investigate whether the effect size of the systemic lupus erythematosus (SLE) risk alleles varies across European subpopulations. METHODS: European SLE patients (n = 1,742) and ethnically matched healthy controls (n = 2,101) were recruited at 17 centres from 10 different countries. Only individuals with self-reported ancestry from the country of origin were included. In addition, participants were genotyped for top ancestry informative markers and for 25 SLE associated SNPs. The results were used to compare effect sizes between the Central Eureopan and Southern European subgroups. RESULTS: Twenty of the 25 SNPs showed independent association with SLE, These SNPs showed a significant bias to larger effect sizes in the Southern subgroup, with 15/20 showing this trend (P = 0.019) and a larger mean odds ratio of the 20 SNPs (1.46 vs. 1.34, P = 0.02) as well as a larger difference in the number of risk alleles (2.06 vs. 1.63, P = 0.027) between SLE patients and controls than for Central Europeans. This bias was reflected in a very significant difference in the cumulative genetic risk score (4.31 vs. 3.48, P = 1.8 × 10-32). Effect size bias was accompanied by a lower number of SLE risk alleles in the Southern subjects, both patients and controls, the difference being more marked between the controls (P = 1.1 × 10-8) than between the Southern and Central European patients (P = 0.016). Seven of these SNPs showed significant allele frequency clines. CONCLUSION: Our findings showed a bias to larger effect sizes of SLE loci in the Southern Europeans relative to the Central Europeans together with clines of SLE risk allele frequencies. These results indicate the need to study risk allele clines and the implications of the polygenic model of inheritance in SLE.Arthritis research & therapy 04/2012; 14(2):R94. · 4.27 Impact Factor -
Article: Further evidence of subphenotype association with systemic lupus erythematosus susceptibility Loci: a European cases only study.
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ABSTRACT: Systemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question. European SLE patients, 1444, recruited at 17 centres from 10 countries were analyzed. Genotypes for 26 SLE associated SNPs were compared between patients with and without each of 11 clinical features: ten of the American College of Rheumatology (ACR) classification criteria (except ANAs) and age of disease onset. These analyses were adjusted for centre of recruitment, top ancestry informative markers, gender and time of follow-up. Overlap of samples with previous studies was excluded for assessing replication. THERE WERE THREE NEW ASSOCIATIONS: the SNPs in XKR6 and in FAM167A-BLK were associated with lupus nephritis (OR = 0.76 and 1.30, P(corr) = 0.007 and 0.03, respectively) and the SNP of MECP2, which is in chromosome X, with earlier age of disease onset in men. The previously reported association of STAT4 with early age of disease onset was replicated. Some other results were suggestive of the presence of additional associations. Together, the association signals provided support to some previous findings and to the characterization of lupus nephritis, autoantibodies and age of disease onset as the clinical features more associated with SLE loci. Some of the SLE loci shape the disease phenotype in addition to increase susceptibility to SLE. This influence is more prominent for some clinical features than for others. However, results are only partially consistent between studies and subphenotype specific GWAS are needed to unravel their genetic component.PLoS ONE 01/2012; 7(9):e45356. · 4.09 Impact Factor -
Article: Analysis of Class II human leucocyte antigens in Italian and Spanish systemic sclerosis.
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ABSTRACT: To determine the role of Class II HLAs in SSc patients from Italy and Spain and in SSc patients of Caucasian ancestry. Nine hundred and forty-four SSc patients (Italy 392 patients; Spain 452 patients) and 1320 ethnically matched healthy controls (Italy 398 patients; Spain 922 patients) were genotyped up to the fourth digit by PCR with sequence-specific oligonucleotides for HLA-DRB1, DQA1 and DQB1 loci. Patients included 390 ACA-positive and 254 anti-topo I-positive subjects. Associations between SSc or SSc-specific antibodies and HLA alleles or HLA haplotypes were sought via the chi-square test after 10 000-fold permutation testing. A meta-analysis including this study cohort and other Caucasoids samples was also conducted. In both the cohorts, the strongest association was observed between the HLA-DRB1*1104 allele and SSc or anti-topo I antibodies. The HLA-DRB1*1104 -DQA1*0501 -DQB1*0301 haplotype was overrepresented in Italian [odds ratio (OR) = 2.069, 95% asymptotic CIs (CI(95)) 1.486, 2.881; P < 0.001] and in Spanish patients (OR = 6.707, CI(95) 3.974, 11.319; P < 0.001) as well as in anti-topo-positive patients: Italy (OR = 2.642, CI(95) 1.78, 3.924; P < 0.001) and Spain (OR = 20.625, CI(95) 11.536, 36.876; P < 0.001). In both the populations we also identified an additional risk allele (HLA-DQB1*03) and a protective allele (HLA-DQB1*0501) in anti-topo-positive patients. The meta-analysis showed different statistically significant associations, the most interesting being the differential association between HLA-DRB1*01 alleles and ACAs (OR = 1.724, CI(95) 1.482, 2.005; P < 0.001) or topo I antibodies (OR = 0.5, CI(95) 0.384, 0.651; P < 0.001). We describe multiple robust associations between SSc and HLA Class II antigens in Caucasoids that may help to understand the genetic architecture of SSc.Rheumatology (Oxford, England) 11/2011; 51(1):52-9. · 4.24 Impact Factor -
Article: Association of osteopontin regulatory polymorphisms with systemic sclerosis.
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ABSTRACT: To test the involvement of osteopontin gene (OPN) in systemic sclerosis (SSc) susceptibility, two OPN single nucleotide polymorphisms previously reported to be associated with systemic lupus erythematosus, namely -156G/GG (proximal promoter) and +1239A/C (3' untranslated region (UTR)), were tested in 357 Italian patients and 864 matched control subjects. OPN serum levels were determined by enzyme-linked immunosorbent assay in 32 patients and 116 controls. Compared with the controls, in SSc patients there was a significantly increased frequency of the alleles -156G (p = 0.0086), and +1239C (p = 0.00064), paralleling the association reported for systemic lupus erythematosus. According to logistic regression analysis, this association is primarily due to the effect of +1239 single nucleotide polymorphism. OPN serum levels were significantly higher in SSc patients than in controls (p = 0.00025). These data suggest that OPN genetic variations have a role in SSc susceptibility, reporting for the first time an involvement of this molecule in SSc pathogenesis and emphasizing that SSc shares pathogenetic mechanisms with other autoimmune diseases.Human immunology 07/2011; 72(10):930-4. · 2.55 Impact Factor -
Article: Cardiac differentiation promotes mitochondria development and ameliorates oxidative capacity in H9c2 cardiomyoblasts.
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ABSTRACT: H9c2 undergoing cardiac differentiation induced by all-trans-retinoic acid were investigated for mitochondria structural features together with the implied functional changes, as a model for the study of mitochondrial development in cardiogenic progenitor cells. As the expression of cardiac markers became detectable, mitochondrial mass increased and mitochondrial morphology and ultrastructure changed. Reticular network organization developed and more bulky mitochondria with greater numbers of closely packed cristae and more electron-dense matrix were detected. Increased expression of PGC-1α proved the occurrence of mitochondrial biogenesis. Improvements in mitochondrial energetic competence were also documented, linked to better assembly between F(0) and F(1) sectors of the F(0)F(1)ATPsynthase enzyme complex.Mitochondrion 03/2011; 11(2):315-26. · 3.62 Impact Factor -
Article: Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers.
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ABSTRACT: The objective of this study was to determine whether the matrix metalloproteinase-9 (MMP-9) rs3918242 single nucleotide polymorphism may confer susceptibility to systemic sclerosis (SSc) with and without ulcers in an Italian Caucasian population. The MMP-9 rs3918242 functional polymorphism was genotyped in 461 subjects of Italian Caucasian origin: 228 patients with SSc (92 with and 136 without ulcers) and 233 unrelated healthy individuals. The SNP under study was in Hardy-Weinberg equilibrium in the control population. Genotype and allele distributions between SSc patients, with or without ulcers, were not statistically significant (p>0.05). A significant increase of the genotype C/T was observed in male SSc patients without ulcers when compared to patients with ulcers (P=0.04). The MMP-9 rs3918242 functional polymorphism is not associated with susceptibility to SSc. However, the presence of the polymorphism may have a protective effect on the development of ulcers in SSc male patients.International Journal of Molecular Medicine 03/2011; 27(6):873-7. · 1.98 Impact Factor -
Article: Ultrastructural evaluation of human metaphase II oocytes after vitrification: closed versus open devices.
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ABSTRACT: To compare the ultrastructural appearance of oocytes after vitrification and warming with two different devices. Oocytes were examined by ultrastructural analysis after vitrification and warming with use of closed (CryoTip; Irvine Scientific, Santa Ana, CA) or open (Cryotop; Kitazato BioPharma Co., Ltd., Shizuoka, Japan) devices. Pordenone Hospital IVF Unit and Medical Morphological Research Department, University of Udine. Surplus oocytes from 10 patients (aged 31-39 years) undergoing assisted reproductive technologies at the Pathophysiology Unit of Human Reproduction and Sperm Bank between 2006 and 2008. Oocytes with normal invertoscopic appearance underwent vitrification and warming with closed (CryoTip) or open (Cryotop) devices and were processed for transmission electron microscopy. Cryodamage extent and cell alterations in oocytes after open or closed vitrification and warming procedures and their rehydration rate. A higher rate of complete oocyte rehydration and less-severe ultrastructural alterations were observed after vitrification and warming with the open Cryotop device. These preliminary data suggest that oocyte ultrastructure is better preserved with an open rather than closed vitrification and warming protocol.Fertility and sterility 03/2011; 95(3):928-35. · 3.97 Impact Factor -
Article: Association of systemic lupus erythematosus clinical features with European population genetic substructure.
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ABSTRACT: Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4)), oral ulcers (P = 6.9×10(-4)) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.PLoS ONE 01/2011; 6(12):e29033. · 4.09 Impact Factor -
Article: Texture analysis of TEM micrographs of alginate gels for cell microencapsulation.
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ABSTRACT: In this work, the morphological characteristics of a calcium alginate gel and a binary (gel) mixture composed of (calcium) alginate and lactose-modified chitosan (chitlac) are evaluated and compared to quantify the differences between the two three-dimensional (3D) structures. A set of textural descriptors based on histogram analysis as well as on gray level co-occurrence matrix and on fractal dimension is extracted from transmission electron microscopy micrographs to describe the morphological differences that the images present. The obtained results reveal significant quantitative morphological differences between the calcium alginate gel and the binary gel mixture that were already inferred from rheological experiments, so as to provide a structural basis for developing new encapsulation systems based on such mixed polymer gels.Microscopy Research and Technique 01/2011; 74(1):58-66. · 1.79 Impact Factor -
Article: A 3-factor epistatic model predicts digital ulcers in Italian scleroderma patients.
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ABSTRACT: The genetic background may predispose systemic sclerosis (SSc) patients to the development of digital ulcers (DUs). Twenty-two functional cytokine single nucleotide polymorphisms (SNPs) and 3 HLA class I and II antigens were typed at the genomic level by polymerase chain reaction in 200 Italian SSc patients. Associations with DUs were sought by parametric models and with the Multifactor Dimensionality Reduction (MDR) algorithm to depict the presence of epistasis. Biological models consistent with MDR results were built by means of Petri nets to describe the metabolic significance of our findings. On the exploratory analysis, the diffuse cutaneous subset (dcSSc) was the only single factor statistically associated with DUs (p=0.045, ns after Bonferroni correction). Gene-gene analysis showed that a 3-factor model comprising the IL-6 C-174G, the IL-2 G-330T SNPs and the HLA-B*3501 allele was predictive for the occurrence of DUs in our population (testing accuracy=66.9%; p<0.0001, permutation testing). Biological interpretation via Petri net showed that IL-6 is a key factor in determining DUs occurrence and that this cytokines may synergise with HLA-B*3501 to determine DUs onset. Owing to the limited number of patients included in the study, future research are needed to replicate our statistical findings as well as to better determine their functional meaning.European Journal of Internal Medicine 08/2010; 21(4):347-53. · 2.00 Impact Factor -
Article: Pro-calcific responses by aortic valve interstitial cells in a novel in vitro model simulating dystrophic calcification.
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ABSTRACT: Etiopathogenetic mechanisms in calcific aortic valve stenosis are still poorly understood despite this being the third major cause of heart disease in western world. In prior in vitro cultures simulating metastatic calcification, pro-calcific effects on aortic valve interstitial cells (AVICs) resulted by adding bacterial endotoxin lipopolysaccharide (LPS) at high inorganic phosphate (Pi) levels. Here we accomplished improved in vitro models simulating either metastatic (Pi = 2.6 mM) or dystrophic calcification (Pi = 1.3 mM), in which LPS-stimulated bovine AVICs underwent extra-stimulation with macrophage-cytokine-containing media derived from parallel cultures of allogeneic monocyte/macrophages in turn stimulated with LPS. In dystrophic calcification-like cultures, lower calcium amount was spectrometrically assessed with parallel reduced alkaline phosphatase activity with respect to metastatic calcification-like cultures, with an about three-fold slower progression of mineralization. Hydroxyapatite crystal precipitation was ultrastructurally found to correlate with AVIC degeneration processes culminating with the formation of phthalocyanin-positive lipidic layers (PPLs) at the surface of cells and cell-derived matrix-vesicle-like bodies, acting as calcium nucleators according to a pattern mirroring those we had previously found in in vivo conditions. In conclusion, an in vitro model has been developed enabling reliable simulations of the effects exerted on AVICs by putatively pro- or anti-calcific agents.Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologia 01/2010; 115(1-2):135-9. -
Article: The influence of heart valve leaflet matrix characteristics on the interaction between human mesenchymal stem cells and decellularized scaffolds.
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ABSTRACT: The potential for in vitro colonization of decellularized valves by human bone marrow mesenchymal stem cells (hBM-MSCs) towards the anisotropic layers ventricularis and fibrosa and in homo- vs. heterotypic cell-ECM interactions has never been investigated. hBM-MSCs were expanded and characterized by immunofluorescence and FACS analysis. Porcine and human pulmonary valve leaflets (p- and hPVLs, respectively) underwent decellularization with Triton X100-sodium cholate treatment (TRICOL), followed by nuclear fragment removal. hBM-MSCs (2x10(6) cells/cm(2)) were seeded onto fibrosa (FS) or ventricularis (VS) of decellularized PVLs, precoated with FBS and fibronectin, and statically cultured for 30 days. Bioengineered PVLs revealed no histopathological features but a reconstructed endothelium lining and the presence of fibroblasts, myofibroblasts and SMCs, as in the corresponding native leaflet. The two valve layers behaved differently as regards hBM-MSC repopulation potential, however, with a higher degree of 3D spreading and differentiation in VS than in FS samples, and with enhanced cell survival and colonization effects in the homotypic ventricularis matrix, suggesting that hBM-MSC phenotypic conversion is strongly influenced in vitro by the anisotropic valve microstructure and species-specific matching between extracellular matrix and donor cells. These findings are of particular relevance to in vivo future applications of valve tissue engineering.Biomaterials 06/2009; 30(25):4104-16. · 7.40 Impact Factor -
Article: Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
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ABSTRACT: We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci. We selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension. Comparison of allele frequencies between cases and controls was done with the Mantel-Haenszel approach to account for heterogeneity between sample collections. A previously controversial association with a SNP in the TYK2 gene was replicated (odds ratio (OR) = 0.79, P = 2.5 x 10-5), as well as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085 in women), which had only been reported in a single study, and association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK (OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR = 0.84, P = 0.001), which have been identified in a genome-wide association study, but not found in any other study. All these replications showed the same disease-associated allele as originally reported. No association was found with the LY9 SNP, which had been reported in a single study. Our results confirm nine SLE loci. For six of them, TYK2, MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important. The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly confirmed. Our results also suggest that MECP2 association has no influence in the sex bias of SLE, contrary to what has been proposed. In addition, none of the other associations seems important in this respect.Arthritis research & therapy 06/2009; 11(3):R69. · 4.27 Impact Factor -
Article: A polymorphism in the human serotonin 5-HT2A receptor gene may protect against systemic sclerosis by reducing platelet aggregation.
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ABSTRACT: Platelet aggregation may contribute to the pathogenesis of systemic sclerosis: following activation, platelets release significant amounts of serotonin - which promotes vasoconstriction and fibrosis, and further enhances aggregation. The C+1354T polymorphism in the exonic region of the serotonin 2A receptor gene determining the His452Tyr substitution was associated with blunted intracellular responses after serotonin stimulation, and may have a role in susceptibility to scleroderma. One hundred and fifteen consecutive systemic sclerosis patients and 140 well-matched healthy control individuals were genotyped by sequence-specific primer-PCR for the His452Tyr substitution of the serotonin 2A receptor gene, and associations were sought with scleroderma and its main clinical features. The functional relevance of the His452Tyr substitution was also assessed by evaluating the aggregation of platelet-rich plasma from His452/His452 and His452/Tyr452 healthy individuals after stimulation with adenosine diphosphate +/- serotonin. The T allele of the C+1354T polymorphism was underrepresented in scleroderma patients compared with control individuals (5.2% versus 12.4%, P < 0.001, chi-square test and 1,000-fold permutation test) and its carriage reduced the risk for systemic sclerosis (odds ratio = 0.39, 95% confidence interval = 0.19 to 0.85, P < 0.01). Platelets from His452/Tyr452 healthy subjects more weakly responded to serotonin stimulation compared with platelets from His452/His452 individuals (3.2 +/- 2.6-fold versus 9.6 +/- 8.6-fold increase in aggregation, P = 0.017 by Kolmogorov-Smirnov test and P = 0.003 after correction for baseline adenosine diphosphate-induced aggregation values). The His452Tyr substitution may influence susceptibility to systemic sclerosis by altering platelet aggregation in response to serotonin.Arthritis research & therapy 09/2008; 10(5):R103. · 4.27 Impact Factor -
Article: Galectin-1 in cartilage: expression, influence on chondrocyte growth and interaction with ECM components.
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ABSTRACT: Galectin-1 is a 14 kDa beta-galactoside binding protein, capable of forming lattice-like structures with glycans of cellular glycoconjugates and inducing intracellular signaling. The expression of Galectin-1 in porcine cartilage is described in this work for the first time. Immunocytochemical methods revealed distinct distribution patterns for both articular and growth plate cartilage. In articular cartilage, the highest reactivity for Galectin-1 was found in all chondrocytes at the superficial zone and in most of those at the lower layer of the middle zone. In the growth plate, marked reactivity was seen in chondrocytes at the proliferative zone and reached a maximum level for the column-forming cells at the hypertrophic zone. In addition, different Galectin-1 distribution patterns were observed at the subcellular level. With regards to the metabolic effects of Galectin-1, the results in vitro seem to indicate an inhibitory effect of Galectin-1 on articular chondrocyte anabolism (i.e. inhibition of cell proliferation and anabolic gene expression) and a stimulation of catabolic processes (i.e. induction of matrix degradation and hypertrophy marker expression). These data represent a starting point for the understanding the molecular mechanisms underlining ECM-Galectin-1 interaction and the subsequent signaling-cell transduction processes involving cartilage formation and maturation.Matrix Biology 06/2008; 27(6):513-25. · 3.30 Impact Factor -
Article: Ab interno trabeculectomy: ultrastructural evidence and early tissue response in a human eye.
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ABSTRACT: To report the results of ultrastructural analysis of the postoperative effects of ab interno trabeculectomy in a human eye. Department of Ophthalmology, Palmanova Hospital, Palmanova, Udine, Italy. A 60-year-old woman with cataract and glaucoma had enucleation for a choroidal melanoma 10 days after ab interno trabeculectomy combined with phacoemulsification. A second ab interno trabeculectomy was performed after enucleation to evaluate the outcomes of the previous trabeculectomy. Light and transmission electron microscopy analyses were performed on samples excised from areas (1) not subjected to a procedure (control samples), (2) that had ab interno trabeculectomy before enucleation, and (3) that had ab interno trabeculectomy immediately after enucleation. Control samples showed normal trabecular features. Semithin sections of all ab interno trabeculectomy samples showed full-thickness removal of trabeculum segments, with Schlemm's canal lumen opening into the anterior chamber and apparent preservation of the adjacent structures. On ultrathin sections of samples that had ab interno trabeculectomy before enucleation, the endothelium lining the outer wall of Schlemm's canal and other angle components showed intact ultrastructural features. In trabecular beams that were not removed, the extracellular matrix appeared to have maintained its fine texture and was free of activated fibroblasts or leucocyte infiltrates. Observations confirm that ab interno trabeculectomy causes direct communication between Schlemm's canal lumen and the anterior chamber in vivo and immediately after enucleation during the early postoperative period. The absence of an evident inflammatory reaction in the examined case should be considered with caution because of possible tumor-induced immune suppression.Journal of Cataract [?] Refractive Surgery 11/2007; 33(10):1750-3. · 2.26 Impact Factor -
Article: Reticular erythematous mucinosis occurring in a brother and sister.
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ABSTRACT: Reticular erythematous mucinosis (REM) is a rare, primary cutaneous mucinosis clinically characterized by a persistent reticular erythema on the mid chest and mid-upper back, and histologically by a mononuclear cell infiltrate and deposits of mucin in the dermis. To our knowledge, the present report of REM occurring in a Caucasian man and his sister is the first reported case of familial REM. Since a host-specific immune response to unknown antigens may be involved in the pathogenesis of this entity, human leukocyte antigen typing was determined and compared to those reported in autoimmune diseases.Dermatology 02/2006; 212(4):385-7. · 2.05 Impact Factor -
Article: Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients.
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ABSTRACT: Systemic sclerosis (SSc) is an autoimmune disease characterized by skin and internal organs fibrosis due to an extracellular matrix (ECM) accumulation of type I collagen. The turnover of the ECM is dependent on the balance between matrix metalloproteinases (MMPs) and tissue inhibitors of matrix metalloproteinases (TIMPs). The disruption of this balance is involved in SSc because higher serum TIMP-1 levels have been demonstrated in SSc patients than in controls. On this basis, we analyzed three polymorphisms: -19A>G, +261C>T, and +372T>C of the TIMP-1 gene in SSc patients (67 females, eight males) and controls (29 females, nine males). The C allele of the +372T>C single nucleotide polymorphism (SNP) was observed at a higher frequency in male patients than in healthy individuals (P=0.02), while no differences were observed in the female subjects. Our findings suggest that the +372T>C polymorphism of the TIMP-1 gene is associated with SSc in male individuals. No association with the clinical characteristics of SSc Italian patients and TIMP-1 gene polymorphisms was observed. Thus, the role of TIMP-1 gene in predisposition to SSc remains controversial.Journal of Clinical Laboratory Analysis 01/2006; 20(5):173-6. · 1.38 Impact Factor
Top co-authors
Top Journals
Institutions
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2012
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Instituto de Investigación Sanitaria de Santiago de Compostela
Santiago de Compostela, Galicia, Spain
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2006–2012
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Università degli Studi di Catania
- Department of Biomedical Sciences (BIOMED)
Catania, Sicily, Italy
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2009–2011
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Universidad de Santiago de Compostela
Santiago de Compostela, Galicia, Spain
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2008–2011
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Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
- Regional Reference Centre for Systemic Autoimmune Diseases
Milano, Lombardy, Italy
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2003–2010
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Università degli studi di Udine
Udine, Friuli Venezia Giulia, Italy
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2003–2006
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University of Milan
- Istituto di Scienze Dermatologiche
Milano, Lombardy, Italy
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