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Biomedical subjects

L Rigoli

Publications and source records attributed to L Rigoli.

At least 19 recordsLinked to original sources
PubMed2006

Gastric adenomas: relationship between clinicopathological findings, Helicobacter pylori infection, APC mutations and COX-2 expression.

Gastric adenomas are rare neoplastic growths characterized by localized polypoid proliferations of dysplastic epithelium that tend to progress to infiltrating adenocarcinoma. Therefore, the identification of molecular markers that could reliably recognize adenomas at risk of progression is advocated in the clinical management. In this study we investigated, in a series of gastric adenoma specimens from an area at high risk of gastric cancer, the relationship between clinicopathological characteristics of adenoma and Helicobacter pylori infection, APC mutational status, and COX-2 and the down-stream enzyme mPGES1 expression. Helicobacter pylori infection, detected in 24%, and 33% by histology and PCR analyses, respectively, did not show any relationship with growth pattern, localization, size, dysplasia grade and presence of synchronous cancer. Pathogenetic mutations of MCR region (codons 1269-1589) of the APC gene were detected only in one case corresponding to a single, small size, low grade, H. pylori-negative adenoma. The expression of COX-2 largely matched that of mPGES(1). Both were overexpressed in 79% of cases showing a relationship with high-grade dysplasia, size >10 mm and presence of a synchronous carcinoma. In conclusion, COX-2 may play a key role in the development and progression of gastric adenoma and could be an attractive target in the management of gastric adenoma at major risk of cancer development.

Adenocarcinoma↗
PubMed2004

Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families.

BACKGROUND: The genetic variants in the Fcepsilon receptor I beta gene (Glu237Gly) and the T allele of the (C590T) polymorphism of interleukin (IL)-4 gene promoter were reported to be associated with atopy. But the data of the studies in different populations are contrasting with one another. METHODS: A group of 25 Italian nuclear families were studied. In each family at least two allergic subjects were present. The allergic children were 65 and the allergic relatives were 35. One hundred and three nonallergic unrelated controls included outpatiens with no history of atopy. The (C590T) promoter polymorphism of the IL-4 and the genetic variant Glu237Gly of Fcepsilon RI beta genes were analysed by the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: A significant difference was observed in the genotype frequency at codon 237 of the Fcepsilon RI beta gene between allergic children and nonatopic control (P < 0.01) and in the allergic relatives (P < 0.001). In the children, the Glu237Gly polymorphism was also associated with elevated circulating levels of immunoglobulin E. The -590C/T allele of IL-4 promoter gene showed no association with atopy. CONCLUSIONS: In our study, the Glu237Gly polymorphism of the Fcepsilon RI beta gene was associated with atopy. Our results have not pointed out an association between the (C590T) promoter polymorphism of the IL-4 gene and atopy. These data suggest the potential role of the Fc RI beta gene in the development of the allergy.

Adolescent↗
PubMed2003

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.

Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent infections of the skin, nails, and mucous membranes. We analysed a five-generation Italian family with an isolated form of CMC, affecting nails only, in the presence of low serum concentration of intercellular adhesion molecule I (ICAM-1). We excluded linkage to candidate regions on chromosomes 2p (CMC with thyroid disease), 21q22.3 (APECED), and 19q13 (ICAM-1). We then carried out a genome-wide scan and assigned the CMC locus to a 19 cM pericentromeric region on chromosome 11.

Candidiasis, Chronic Mucocutaneous↗
PubMed2001

Molecular analysis of beta-thalassaemia patients in a high incidence area of southern Italy.

The prevalence of eight mutations in 84 patients with beta-thalassaemia major and in 16 subjects with thalassaemia intermedia was investigated. All of the patients were Italian, originating from Eastern Sicily (Messina area) and some Calabrian regions. Genomic DNA was amplified by polymerase chain reaction (PCR). DNA molecular investigations were performed by allele-specific oligonucleotide (ASO) hybridization, to identify the following beta-thalassaemia mutations: CD39 (C-T), IVS1-110 (G-A), IVS1-6 (T-C), IVS1-1 (G-A), IVS2-745 (C-G), IVS2-1 (G-A), -87 (C-G), CD6 A (-A). Our data underline that in thalassemia intermedia two mutations were statistically prevalent: IVS1-6 T-->C (P < 0.001) and CD 6-A (P < 0.05). CD 39 was statistically prevalent in beta-thalassaemia major patients (P < 0.01). The difference between the two groups was not statistically significant for all the other mutations. Five different genotypes were recorded among thalassaemia intermedia and 15 among beta-thalassaemia major patients. Twenty-five percent of the intermedia patients and 4.5% of the major patients had homozygosity for mild mutations (group I); 62.5% of the intermedia patients and 26.2% of the major patients had combinations of mild/severe mutations (group II). In addition, homozygosity or double heterozygosity for severe mutations (group III) was found in 12.5% of the intermedia patients and 69% of the major patients. Some genotypes were restricted to thalassaemia intermedia, including heterozygosity -87/IVS1-6 and IVS1-6/CD 6-A. It is essential to understand the distribution and frequency of the relevant mutations in each population where beta-thalassaemias exist. This is of particular importance for genotype-phenotype correlation and for carrier detection, genetic counselling and prenatal diagnosis.

Adolescent↗
PubMed2001

Ultrastructural observations on the microvasculature in advanced gastric carcinomas.

The ultrastructural features associated with vascular permeability in 9 cases of advanced gastric carcinomas were studied, and compared with that of control non-neoplastic mucosa. Tumour microvasculature showed features in common with those of control mucosa, including complete basal lamina, well-developed interendothelial junctions, fenestrations and caveolae. Some tumour blood vessels showed endothelial cell swelling accompained by luminal narrowing and perivascular fibrosis. In 2 out of 9 cases, there were endothelial attenuation with numerous fenestrations and vesiculo-vacuolar organelles. The vesiculo-vacuolar organelle is a recently described cytoplasmic structure found in the endothelial cells lining tumour microvessels and normal venules and which provides an important pathway for extravasation of circulating macromolecules. Our ultrastructural data suggest that advanced gastric carcinomas share with experimental tumour models in vivo only some morphologic features associated with hyperpermeability including fenestration, endothelial attenuation and vesiculo-vacuolar organelles. The implications of perivascular fibrosis on the delivery of immune cells to gastric carcinomas are discussed.

Adult↗
PubMed2001

Mitochondrial 3243 BP mutation: a case report.

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). Mutation in the mitochondrial gene at position 3243 was recently identified in several pedigrees of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for this mutation in a non-consanguineous family with MIDD from Southern Italy. The mitochondrial 3243 bp mutation of the tRNALEU (UUR) gene was identified in one subject with deafness and Type 1B diabetes mellitus and in his mother. The mother was affected by Type 2 diabetes mellitus, deafness and cardiomyopathy. Our study points out the variable phenotypic expression of this mitochondrial mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype.

Cardiomyopathies↗
PubMed2000

Allelic association of gene markers on chromosome 11q in Italian families with atopy.

UNLABELLED: In our study, the genetic linkage of the Fcepsilon RIbeta gene with atopy in 77 affected sibling pairs recruited from an Italian panel of 201 subjects has been examined. Atopy was defined by the presence of a positive skin prick test to one or more common aeroallergens, a positive RAST test to one or more common aeroallergens and an elevated circulating total IgE. Genotype analysis was performed by PCR amplification of Fcepsilon RIbeta CA and CI11-319 CA microsatellites. All the family members were also tested for the Ilepsilon 181 mutation with the ARMS method and for Leu181/Leu183 polymorphism. Seventy-two point five percent (72.5%) of the affected sibling pairs shared their maternal allele and 27.5% did not. Therefore, an increased maternal allele sharing was observed: chi2 = 8.10, p < 0.01. Comparing paternal versus maternal allele sharing, a significant difference was observed for the C1II-319 CA marker (chi2 = 4.32, p < 0.05). Atopy phenotype with positive skin prick test, RASTs, and high total serum IgE also showed greater sharing of maternal than paternal alleles in affected sibling pairs. Of the 201 subjects studied, 17 (8.4%) were positive for Leu181. Ten of these were children and seven (70%) had inherited the variant maternally. The seven children had maternally inherited Leu181/Leu183 and were atopic. Within this sample the maternal inheritance of Fcepsilon RIbeta Leu181/Leu183 was associated with an increased risk of IgE responses to common allergens, raised eosinophil counts and increased skin prick test reactions. Therefore, the variant identified a genetic risk factor for atopy. CONCLUSION: The central role of Fcepsilon RIbeta in atopy and the linkage data presented here point to the possibility that genetic variation in Fcepsilon RIbeta or its controlling element may cause differences in the extent of IgE responses between atopic and non-atopic subjects. A search for such mutations or polymorphisms will need to take into account some carriers of atopy among the normal population and genetic heterogeneity among atopic individuals.

Adolescent↗
PubMed1999

Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). A family from Southern Italy who showed maternal transmission of type 2 diabetes mellitus with three individuals affected is described. A 10.4 kb deletion and mutations at nucleotide positions (np) 3243, 7445 and 11778 in the mtDNA of six relatives were sought. The mitochondrial np 3243 mutation of the tRNA Leu (UUR) gene was identified in a boy affected by optic atrophy and mental retardation, as well as in his diabetic mother. No other mutations or deletions were found. Our study points out the variable phenotypic expression of the np 3243 mtDNA mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype. A clinical and metabolic follow-up of all family members was necessary to understand the role of the np 3243 mutation, especially in one child affected by optic atrophy and mental retardation. Further studies will be aimed at investigating the prevalence of mutations and deletions of mtDNA in type 2 diabetes mellitus.

Blood Glucose↗
PubMed1997

Clinicopathological features of early gastric cancer in younger versus older patients in a high incidence area of northern Italy.

AIMS: The relationship between the clinicopathological features of early gastric cancer and age were analysed in a retrospective study of 168 patients. METHODS: 168 patients, residents of the Region of Cremona, who had undergone surgery in the period 1978 to 1990 for early gastric cancer, were divided into two groups by age and compared. Group I (n = 89) consisted of patients less than 65 years of age and Group II (n = 79) of patients between 66 and 85 years of age. RESULTS: There were no significant differences between the two groups with respect to the sex ratio, tumour size, depth of tumour invasion, and 5-year survival rate. Group I patients showed more lymph node involvement (p < 0.01), cancer of the diffuse histological type (p < 0.01), and cancers located in the gastric body (p < 0.05). Conversely, Group II exhibited more cancers of the protruded (p < 0.05) and intestinal histological type (p < 0.01), and more adenomatous residue (p < 0.01). CONCLUSIONS: Our findings suggest that early gastric cancer may present differently in different age groups; persons 65 years of age and older are more likely to have early gastric cancer of the slow-growing type than middle-aged patients.

Adult↗
PubMed1995

Apolipoprotein AI-CIII-AIV genetic polymorphisms and coronary heart disease in type 2 diabetes mellitus.

The aim of this study was to verify whether or not the increased prevalence of coronary heart disease (CHD) commonly observed in patients with type 2 diabetes mellitus is related to a genetic background involving restriction fragment length polymorphisms (RFLPs) of apolipoproteins. On the basis of a case-control design, 62 type 2 diabetic patients with CHD (confirmed by clinical history and electrocardiogram) and 62 age- and sex-matched diabetic subjects without CHD were enrolled. In each of them RFLPs of the apolipoprotein CIII gene (S1 or S2 allele) and AI promoter region (A or G allele), together with fasting plasma lipids and apolipoproteins levels, were assessed. The rare S2 allele was found significantly (P = 0.05) more frequently in patients with CHD, and its related S1S2 genotype was associated with higher plasma levels of total cholesterol (P = 0.01), triglycerides (P = 0.007) and apo B (P = 0.001) than the S1S1 genotype. The A allele was more frequent (P = 0.004) in patients without CHD and was associated with lower plasma cholesterol (P = 0.0001), low-density lipoprotein (LDL)-cholesterol (P = 0.0001) and apo B (P = 0.005). The S1/A haplotype was more frequent (P = 0.05) in patients without CHD and was associated with the lowest plasma lipid levels. These results suggest that genetic factors, related to the apo AI-CIII-AIV gene cluster, could play a role in the development of CHD in type 2 diabetic patients, probably through modification of their plasma lipid pattern.

Alleles↗
PubMed1989

Lysozyme and mucins in gastric adenomas.

A method for the simultaneous demonstration of lysozyme and mucins in 39 cases of gastric adenomas differentiated two intermediate cell types. The first was similar to a columnar cell comprising a single cell population which covered extensive areas of the adenomas. This cell type often showed supranuclear lysozyme reactivity and apical neutral mucins, sialomucins, and sulphomucins in variable amounts. The second cell type was found in 11 adenomas, located mainly in the fundal area. It seemed to be a transitional form between the goblet cell and the Paneth cell. This cell type was scattered among columnar cells, occasional Paneth-like cells, and small goblet cells. These two types of intermediate cells may be regarded as abnormally differentiated integral elements of gastric adenomas. They may be associated with the neck stem cells in the cytogenesis of gastric adenomas.

Adenoma↗
PubMed1987

[Histo-epidemiological observations on advanced gastric carcinoma].

480 cases of advanced gastric carcinoma are classified according to Laurén or WHO and correlated to age and sex of the patients. The modal value of the incidence for age of the mucinous histologic type is 61-65 years for the men and 71-75 years for the women, while in the signet ring cell histologic type is 50 years in both sexes. These relationship, obtained only by the WHO classification, suggest that mucinous and signet ring cell type constitute distinct histoepidemiological entities.

Adenocarcinoma↗
PubMedDate not supplied

Focal parietal cell differentiation in a well-differentiated (intestinal-type) early gastric cancer.

A well-differentiated (intestinal-type) early gastric cancer characterized by multifocal areas containing adenocarcinoma cells with eosinophilic cytoplasm is presented. The electron microscopy revealed that cytoplasmic eosinophilia was mainly due to the presence of numerous mitochondria. In addition, individual cells showed features of preparietal cell differentiation such as numerous mitochondria, tubulovesicles, intracellular canaliculi and rare mucin granules. There were also adenocarcinoma cells with a pyloric gland (mucopeptic) differentiation as revealed by the presence of granules with a dense protein core eccentrically located in the mucus matrix. These ultrastructural data suggested a gastric epithelial cell differentiation. The implications with regard to the classification and histogenesis of this tumor are discussed.

Adenocarcinoma↗
PubMedDate not supplied

Morphological evidence of neutrophil-tumor cell phagocytosis (cannibalism) in human gastric adenocarcinomas.

The phenomenon of neutrophil-tumor cell emperipolesis or phagocytosis has been documented by light microscopy in various human carcinomas, but little is known about the cellular pathological processes and the morphological changes involved. In an attempt to clarify the nature of this phenomenon, the authors' ultrastructural studies on the relationships among neutrophils and tumor cells in human gastric carcinomas are reviewed and analyzed. At the electron microscopy level, apoptotic neutrophils were found within vacuoles of adenocarcinoma cells in 2 cases. They showed either early apoptotic morphology with perinuclear chromatin aggregation but cytoplasm integrity or late apoptotic morphology with uniform, collapsed nucleus and tightly packed cytoplasmic granules. A light microscopy review of 200 cases of resected gastric carcinomas identified 22 cases (11%) that were characterized by neutrophil-tumor cell phagocytosis (cannibalism). TUNEL staining confirmed the presence of apoptotic neutrophils within the cytoplasm of the tumor cells. This study provides light and electron microscopic evidence of apoptotic neutrophils phagocytosed by gastric adenocarcinoma cells. The morphological features of neutrophil-tumor cell phagocytosis (cannibalism) would suggest a particular mechanism of tumor-immune escape in human gastric carcinoma.

Adenocarcinoma↗