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L Greco

Publications and source records attributed to L Greco.

At least 19 recordsLinked to original sources
PubMed2006

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population.

Association between Myosin IXB (MYO9B) gene polymorphisms and celiac disease (CD) was recently detected by a case-control association study in the Dutch, but not confirmed in the British and Swedish/Norwegian populations. We tested the association between CD and the three most associated single nucleotide polymorphisms (SNPs) in the Dutch study by the transmission disequilibrium test in the Italian population. A total of 252 pediatric patients and 504 parents were genotyped. No transmission distortion was detected either for the single SNPs or for their haplotypic combinations. Control allele frequencies, calculated from untransmitted alleles, were significantly different from those of the Dutch control population. Conversely, allele frequencies were very similar in Italian, British, Swedish/Norwegian and Dutch patients. In conclusion, MYO9B is not involved in CD susceptibility in the Italian population. The difference with the Dutch result might be explained by an imperfect selection of the Dutch controls.

Adult↗
PubMed2005

Concordance, disease progression, and heritability of coeliac disease in Italian twins.

BACKGROUND AND AIMS: We adopted the twin method to disentangle the genetic and environmental components of susceptibility to coeliac disease (CD). We estimated disease concordance rate by zygosity and HLA genotypes, discordance times, progression rates to disease, and heritability. METHODS: We crosslinked the Italian Twin Registry with the membership lists of the Italian Coeliac Disease Association and recruited 23 monozygotic (MZ) and 50 dizygotic (DZ) twin pairs with at least one affected member. Zygosity was assigned by DNA fingerprinting, and HLA-DQ and DR alleles were genotyped. Disease status was ascertained by antiendomysial, anti-human tissue transglutaminase antibodies, and bowel biopsy. RESULTS: Concordance was significantly higher in MZ (83.3% probandwise, 71.4% pairwise) than in DZ (16.7% probandwise, 9.1% pairwise) pairs. Concordance was not affected by sex or HLA genotype of the co-twin and being MZ was significantly associated with the occurrence of CD (Cox adjusted hazard ratio 14.3 (95% confidence interval 4.0-50.3)). In 90% of concordant pairs the discordance time was <or=2 years. MZ and DZ co-twins had 70% and 9% cumulative probability of having symptomatic or silent forms of CD, respectively, within five years. Under ACE (additive genetic, common, and unshared environmental factors) models, with CD population prevalences of 1/91 and 1/1000, heritability estimates were 87% and 57%, respectively. CONCLUSION: MZ pairs have a high probability of being concordant, regardless of sex or HLA genotype. Most of the affected co-twins receive a diagnosis within two years. A remarkable proportion of phenotypic variance is due to genetic factors.

Adolescent↗
PubMed2005

A study of the abilities in oral language comprehension of the Boston Diagnostic Aphasia Examination -- Portuguese version: a reference guide for the Brazilian population.

We analyzed the performance of 162 normal subjects, subdivided into groups according to age and schooling, in the oral comprehension tasks of the Boston Diagnostic Aphasia Examination translated and adapted to Brazilian Portuguese to obtain a profile of performance for the Brazilian population, as well as cut-off scores for each task, and to determine the best combination of tasks that distinguish normal from aphasic subjects, as a guide for clinicians. The normal subjects were compared to 69 aphasics. Age alone influenced the performance in the designation of actions (subjects above 70 years showing the worst performance); schooling alone influenced the comprehension of forms, colors and numbers (subjects with less than four years of education showing a poorer performance). Both age and schooling influenced the performance in Body Part Identification (BPI) and Complex Ideational Material (CIM) with mean values of 70.5 +/- 3.3 (Word Discrimination, WD), 18.9 +/- 1.4 (BPI), 14.7 +/- 0.9 (Commands), and 10.3 +/- 1.7 (CIM) for the whole sample; the cut-off scores obtained were 65 (WD), 17.5 (BPI), 14 (Commands), and 9.5 (CIM) for the whole sample. Logistic regression showed that the combination of BPI + Commands + CIM was the most efficient in differentiating normal subjects from aphasics, with 72.5% sensitivity and 97.6% specificity. However, for low-education subjects, BPI and Commands were sufficient for this differentiation (75.7% sensitivity and 84.7% specificity). The main contribution of this study was to provide reference values that are far more representative of our population to be used by health professionals in Brazil, taking into account cultural differences.

Adolescent↗
PubMed2004

Epidemiological and clinical features in immigrant children with coeliac disease: an Italian multicentre study.

BACKGROUND: There are no available data concerning the incidence and the clinical pattern of coeliac disease in immigrant children coming to Italy from developing countries. AIMS: To evaluate the epidemiological and clinical features of coeliac immigrant children coming to Italy. PATIENTS AND METHODS: Hospital records of 1917 children diagnosed in 22 Italian Centres from 1999 to 2001 as having coeliac disease were retrospectively reviewed, comparing immigrant patients versus Italian ones. RESULTS: 36/1917 (1.9%) coeliac children were immigrant. This prevalence was similar to that of the immigrant children among the whole paediatric population living in Italy. Prevalence was influenced by geographical factors, being higher in Northern Italy (1.7%) and in Central Italy (2.5%) than in Southern-Insular Italy (1.5%), as consequence of a higher proportion of immigrants in these regions. The native areas of the immigrant children were East Europe (15/36), Northern Africa (14/36), Southern Asia (4/36), West Africa (1/36), East Africa (1/36) and the Middle East (1/36). The clinical spectrum and dietary habits in immigrant patients were similar to those of the Italian children. CONCLUSIONS: Coeliac disease among the immigrant children coming from developing countries is an emerging problem, and physicians need to be fully aware of it. An important risk factor for coeliac disease in immigrant children appears to be sharing of the same dietary habits with the Italian population. The finding of coeliac disease in children coming from many countries worldwide suggests that coeliac disease is a global public health problem.

Adolescent↗
PubMed2004

HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease.

Coeliac disease is an enteropathy due to an intolerance to gluten. The association between HLA-DQ genes and CD is well established. The majority of patients carry the HLA-DQ heterodimer encoded by DQA1*05/DQB1*02, either in cis or in trans. The remaining patients carry either part of the DQ heterodimer or DQA1*03-DQB1*0302. The aim of the study was to estimate the risks associated with different DQ genotypes in European populations. HLA information was available for 470 trio families from four countries: France (117), Italy (128), and Norway and Sweden (225). Five DQA1-DQB1 haplotypes were considered and control haplotype frequencies were estimated from the set of parental haplotypes not transmitted to the affected child. The possible genotypes were grouped into five genotype groups, based on the hierarchy of risk reported in the literature. A north-south gradient in the genotype group frequencies is observed in probands: homogeneity is strongly rejected between all country pairs. For each country, the relative risks associated with each genotype group were computed taking into account the control haplotype frequencies. Homogeneity of relative risks between countries was tested pairwise by maximum likelihood ratio statistics. The hypothesis of homogeneity of relative risks is rejected (P is approximately 10(-6)) for all country pairs. In conclusion, the gradient in the genotype group frequencies in probands is not only due to differences in haplotype frequencies but also due to differences in genotype relative risks in the studied populations; the relative risks associated with each DQ genotype group are different between northern and southern European countries; neither are they ordered in the same way.

Celiac Disease↗
PubMed2004

Candidate gene region 2q33 in European families with coeliac disease.

Chromosome region 2q33 harbours a cluster of genes, CTLA-4, CD28, ICOS and closely located PD-1, all related to immune activation and considered as promising candidate genes for susceptibility to coeliac disease (CD). We present here the results of a genetic linkage and association analysis of nine markers located in this gene region in a large combined European material of 796 families with CD from Finland, Sweden, Norway, UK, France and Italy. The joint analysis supports earlier findings that this susceptibility locus, assigned as CELIAC3, merits further studies. Nominally significant linkage to CD was found in 314 families including affected sib pairs. Each of the five populations showed weak associations to several marker alleles, but the analysis revealed, however, no conclusive evidence for a primary functional gene or gene variant present in the total set of families. The results suggest that the CD risk due to 2q33 gene region is complex and may involve more than one susceptibility allele, which possibly differ from other autoimmune diseases.

Alleles↗
PubMed2004

Undiagnosed coeliac disease does not appear to be associated with unfavourable outcome of pregnancy.

BACKGROUND: In a previous hospital based study, we suggested that undiagnosed coeliac disease has a prevalence, among pregnant women, of 1:80, and is a cause of unfavourable outcome of pregnancy. AIMS: In order to confirm or dismiss this hypothesis, which has significant public health implications, we carried out a large population based study on a stratified sample from the whole Campania region. PATIENTS: During the period of the study, 5345 women were admitted to the OBS-GYN wards regional network: 5055 (95%) were enrolled in the study. METHODS: Antihuman IgA class antitissue transglutaminase (TGASE) antibodies were tested by an ELISA method. Endomysial antibodies (EMA) were investigated on thin sections of human cord blood by an immunofluorescence test. The HLA class II DQA1*0501/DQB1*02 and DQA1*0301/DQB1*0302 haplotypes were assessed using the Eurospital Eu-DQ kit. Duodenal biopsy was not considered feasible by the ethics committee for pregnant women near delivery. RESULTS: Fifty one of 5055 patients had confirmed positive results. We added to these 12 women with known coeliac disease, giving a prevalence rate for coeliac disease of 1:80 (exactly the value observed during the first study). Comparing the 51 TGASE positive with 4997 negative women, we did not observe an excess risk of abortion, premature delivery, small birth weight, or intrauterine growth retardation. Anaemia was more frequent in cases than controls. CONCLUSIONS: Undiagnosed coeliac disease is frequent among pregnant women (>1%) but is not associated with an unfavourable outcome of pregnancy.

Adult↗
PubMed2003

Laparoscopic resection of an abdominal wall desmoid using a modified suture traction technique: the "marionette trick".

Desmoids are rare mesenchimal tumors that may originate also inside the abdomen or in the abdominal wall. These tumors are biologically characterized by a tendency to local growth, and only rarely are they able to develop distant metastases. Surgical excision usually is the best treatment with a chance of a cure. In the few reports on intraabdominal or abdominal wall desmoids, open surgery always was performed. The first case of successful laparoscopic resection of a symptomatic anterior wall desmoid tumor with intraabdominal growth is reported. During the procedure, it was difficult to mobilize and grasp the mass using the common laparoscopic instruments, but with the help of the "marionette trick," modified suture traction technique, the tumor could be removed easily using only three trocars. With four traction sutures minimizing the wall trauma, the trick made it possible to mobilize the mass in at least, seven directions, according to the principles of physical forces and vectors. This simple trick can be helpful for other common laparoscopic procedures, avoiding the insertion of sometimes ineffective instruments through more traumatic trocars.

Abdominal Neoplasms↗
PubMed2003

Self-rated quality of life in celiac disease.

As much as 1% of the gluten-consuming world is gluten-intolerant. New screening methods are increasingly identifying gluten intolerance in individuals previously free from health problems. The often-abrupt major change in diet may adversely affect the patient's quality of life. Our aim was to evaluate self-perceived quality of life in a large cohort of adult celiac patients after at least one year of a gluten-free diet. In all 581 members (410 females) of five regional celiac societies were on a gluten-free regimen for at least one year. In this cross-sectional study, a modified version of the Zung Self-Rating Depression Scale was administered to the 581 patients from five Italian regions. Most patients correctly defined celiac disease, and compliance with the gluten-free diet was high, although reporting bias cannot be excluded. Most felt well (83.6% "very well" and "well"); consequently, anxiety and depression scores were low. Happiness also scored low. Most participants did not feel that a gluten-free life differentiated them from the general population. Women and patients diagnosed after 20 years of age had better dietary compliance, but more problems in their social life. Happiness scores were higher in patients diagnosed before 20 years of age. Anxiety and depression were infrequent in this group; however, anxiety was frequently related to feeling different from the general population, and depression to an unsatisfactory sexual life. In conclusion, celiac disease does not appear to be associated to a low level of self-perceived quality of life in members of the Italian Celiac Society.

Adult↗
PubMed2003

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease.

Although HLA-DQ genes are the major celiac disease (CD) susceptibility genes, results from Finnish families suggest that not all DQ2-encoding haplotypes confer equal susceptibility to CD, implying the effect of other gene(s) in the HLA region. The aim of the present work was to extend and confirm the aforementioned results in a southern European population ( Italian) and to better localize the additional risk factor/s. The association of nine loci spanning the HLA region from DR to HFE, 4.5-Mb telomeric of HLA-A, was tested. The analysis was performed by comparing marker frequencies in DR3-DQ2 haplotypes transmitted and non-transmitted to the affected offspring in 156 Italian CD families selected for having at least one DR3-positive parent. The same analysis was performed independently in 101 Finnish CD families selected with the same criteria. Three alleles, MICA-A5.1, MICB-CA24 and MIB-350, all characteristic of the B8-DR3 extended haplotype, showed a significantly increased frequency in DR3 transmitted haplotypes in the Italian families. DR3 haplotypes carrying the combination of these alleles conferred an approximate fourfold increased CD risk. B8-DR3 transmitted haplotypes were significantly more conserved telomerically down to the MIC-Class I region. Similar results were seen in the Finnish families. The major conclusion that holds true in both populations is that, while DQ2 is an absolute requirement for the development of CD, the presence of an additional genetic factor within the MIC-Class I region confers an approximate 4-fold increased risk of the disease.

Celiac Disease↗
PubMed2003

Saturation of the 5q31-q33 candidate region for coeliac disease.

The first genome wide screening performed on Italian affected sib-pair families (Greco et al. 1998) gave evidence for linkage with coeliac disease in the 5q region. This finding was replicated in a second independent dataset (Greco et al. 2001). Overall, pooling both samples, the highest MLS value (2.92) was found for the most centromeric marker tested, D5S640. In the present study, the 5q31-q33 region was saturated with 12 new markers around D5S640, in order to verify whether there would be a shift of the MLS position. This study allowed us to support our previous finding of linkage for the region 5q31-q33, with the most significant MLS value at D5S2014, very close to the marker D5S640. No evidence for interaction between this risk factor and the one in the HLA region was found. Furthermore, many different groups have independently obtained analogous results for this region, confirming the presence of a susceptibility locus in the region 5q31-q33. This region contains several interesting candidate genes for coeliac disease.

Celiac Disease↗
PubMed2003

An immunodominant DQ8 restricted gliadin peptide activates small intestinal immune response in in vitro cultured mucosa from HLA-DQ8 positive but not HLA-DQ8 negative coeliac patients.

BACKGROUND: Studies on intestinal T cell clones from the mucosa of patients with coeliac disease have led to the identification of immunogenic gliadin epitopes. One is HLA-DQ8 restricted, its recognition by T cells being increased by introduction of negatively charged residues operated by tissue transglutaminase. AIM: To test HLA-DQ8 restricted epitope in both native (QYPSGQGSFQPSQQNPQA) and deamidated (QYPSGEGSFQPSQENPQA) forms in an organ culture system of treated coeliac mucosa from HLA-DQ8 positive and HLA-DQ8 negative patients. PATIENTS AND METHODS: Jejunal biopsies obtained from 10 patients with coeliac disease (six HLA-DQ8 positive and four HLA-DQ8 negative) were cultured in vitro with a peptic-tryptic digest (PT) of gliadin, or with the native (peptide A) or deamidated (peptide B) peptide. Intraepithelial CD3(+) and lamina propria total CD25(+) and CD3(+)CD25(+) cells were counted, lamina propria intercellular adhesion molecule 1 (ICAM-1) expression was evaluated, as well as that of Fas molecules on epithelial cells. RESULTS: In HLA-DQ8 positive, but not in HLA-DQ8 negative, coeliacs the density of intraepithelial CD3(+) cells, lamina propria total CD25(+), and CD3(+)CD25(+) cells, as well as expression of ICAM-1 and Fas molecules were significantly increased in biopsies cultured with PT, peptide A, or peptide B compared with biopsies cultured in medium alone. CONCLUSION: These data show that the DQ8 restricted gliadin peptide is immunogenic only in the intestinal mucosa of HLA-DQ8 positive coeliac patients in both native and deamidated forms.

Adolescent↗
PubMed2002

The IL12B gene does not confer susceptibility to coeliac disease.

Coeliac disease (CD) is a chronic inflammatory disorder where dietary gluten is not tolerated. In the lesion there are gluten reactive T cells predominantly secreting gamma-interferon. Both HLA and non-HLA genes contribute to CD susceptibility. Interleukin-12 (IL-12) regulates gamma-interferon production. The IL12B gene is located in a region (5q31.1-33.1) where there is evidence for linkage with CD. Allele 1 of an IL12B 3'UTR single-nucleotide polymorphism leads to increased expression of IL-12, and was recently implicated in susceptibility for type 1 diabetes (T1D). We found no evidence for association of allele 1 to CD by the transmission/disequilibrium test or case-control approach. No increased frequency was observed in patients belonging to families where the disease was linked to markers on chromosome 5q. Unlike T1D, allele 1 does not appear to confer susceptibility to CD.

Alleles↗
PubMed2002

Immune response of the coeliac nasal mucosa to locally-instilled gliadin.

We previously demonstrated a specific gluten-induced response in the rectal mucosa of coeliac patients. In the present study, we have evaluated the immune response to local gliadin challenge in the nasal mucosa of coeliac patients preliminary to exploring the feasibility of immune modulation by the nasal route. The local response to gliadin was evaluated on non-invasive scrapings of nasal mucosa. Cells harvested from the nasal scrapings of 21 coeliac patients and 12 healthy controls were counted after immunohistochemical staining. Six hours after gliadin challenge, the total number of cells was increased in coeliacs but not in controls. The increase was due principally to lymphoid cells and granulocytes. CD3+ cells doubled after gliadin challenge, but not after albumin control challenge. There was a similar rise in CD25+ cells, whereas the number of ICAM-expressing cells did not increase significantly. In control subjects, both gliadin and albumin induced a moderate but not significant increase in total cell number. In conclusion, the gliadin antigen provokes a mild inflammatory response in coeliac nasal mucosa.

Administration, Intranasal↗
PubMed2002

Coeliac families.

Explore the source record for details and available documents.

Birth Weight↗
PubMed2002

The first large population based twin study of coeliac disease.

BACKGROUND AND AIMS: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study. METHODS: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. RESULTS: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1-134), independent of the DQ at risk genotype. CONCLUSION: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.

Adolescent↗