Tripputi P.,Surgery and Dentistry
The journal of obstetrics and gynaecology research | Year: 2011
We carried out an association study between T-cell receptor beta polymorphism (TCRB) and endometriosis to investigate the difference in allelic frequency. Polymorphisms in T-cell receptor genes can provide important information for the study of the immune response and autoimmune diseases; indeed, rs1800907, a very common single nucleotide polymorphism (SNP) of the TCRB, has been extensively studied in autoimmune diseases in the 1990s using Southern blot analysis and more recently polymerase chain reaction (PCR) and sequencing. An autoimmune etiology for endometriosis has been strongly suggested for the presence of antibodies against endometrium, high rates of autoimmune disorders and associated atopic diseases. We investigated 70 patients with endometriosis and 120 controls. DNA of patients and controls was studied by PCR followed by restriction digestion and sequencing to determine genotype and presence of linkage disequilibrium (LD). Statistical analysis was carried out using STATA Routine GENHW (StataCorp, College Station, TX, USA) for estimation of Hardy-Weinberg equilibrium and test power calculation. The difference of allele distribution between patients and controls was calculated according to Pearson's and Fisher's tests. Test power for the estimation of linkage disequilibrium is low (0.16). We performed an association study of the SNP rs1800907 of TCRB between 70 patients with endometriosis and 120 controls, and did not find any significant difference (χ(2) = 0.27 and P = 0.87). Fisher's test confirmed a P-value of 0.872. Our study does not suggest an evidential and major involvement of TCRB in the pathogenesis of endometriosis in an Italian population in a small case control study. © 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.
Villa A.,Surgery and Dentistry |
Mariani U.,Ospedali Riuniti di Bergamo |
Villa F.,Private Practice
Oral and Maxillofacial Surgery | Year: 2012
Background: Bone metastases are a major cause of morbidity in cancer patients. Jawbone metastasis from lung cancer is a rare condition that may occur in the late state of the disease. Case report: We report the case of a 74-year-old male presenting with an oral asymptomatic swelling that had grown substantially over the last 2 months. Biopsy and histological examination revealed the presence of a metastatic lung cell adenocarcinoma. Discussion: Although metastases to the oral cavity are uncommon, clinicians may play a crucial role also in the diagnosis of primary tumors. © 2011 Springer-Verlag.
Martin-Padura I.,Italian National Cancer Institute |
Marighetti P.,Italian National Cancer Institute |
Foglieni B.,Hospital A. Manzoni |
Spreafico M.,Hospital A. Manzoni |
And 9 more authors.
PLoS ONE | Year: 2011
Background and Aims: Increasing evidence that a number of malignancies are characterised by tumour cell heterogeneity has recently been published, but there is still a lack of data concerning liver cancers. The aim of this study was to investigate and characterise tumour-propagating cell (TPC) compartments within human hepatocellular carcinoma (HCC). Methods: After long-term culture, we identified three morphologically different tumour cell populations in a single HCC specimen, and extensively characterised them by means of flow cytometry, fluorescence microscopy, karyotyping and microarray analyses, single cell cloning, and xenotransplantation in NOD/SCID/IL2Rγ-/- mice. Results: The primary cell populations (hcc-1, -2 and -3) and two clones generated by means of limiting dilutions from hcc-1 (clone-1/7 and -1/8) differently expressed a number of tumour-associated stem cell markers, including EpCAM, CD49f, CD44, CD133, CD56, Thy-1, ALDH and CK19, and also showed different doubling times, drug resistance and tumorigenic potential. Moreover, we found that ALDH expression, in combination with CD44 or Thy-1 negativity or CD56 positivity identified subpopulations with a higher clonogenic potential within hcc-1, hcc-2 and hcc-3 primary cell populations, respectively. Karyotyping revealed the clonal evolution of the cell populations and clones within the primary tumour. Importantly, the primary tumour cell population with the greatest tumorigenic potential and drug resistance showed more chromosomal alterations than the others and contained clones with epithelial and mesenchymal features. Conclusions: Individual HCCs can harbor different self-renewing tumorigenic cell types expressing a variety of morphological and phenotypical markers, karyotypic evolution and different gene expression profiles. This suggests that the models of hepatic carcinogenesis should take into account TPC heterogeneity due to intratumour clonal evolution. © 2011 Colombo et al.
Tabano S.,Surgery and Dentistry |
Colapietro P.,Surgery and Dentistry |
Cetin I.,Unit of Obstetrics and Gynecology |
Cetin I.,University of Milan |
And 12 more authors.
Epigenetics | Year: 2010
Genomic imprinting, resulting in parent-of-origin-dependent gene expression, is mainly achieved by DNAmethylation. IGF2 and H19, belonging to the same cluster of imprinted genes and regulated by ICR1, DMR2 and H19 promoter elements, play a major role in fetal/placental growth. Using quantitative approaches, we explored the epigenetic modulation of IGF2/H19 during human development in 60 normal and 66 idiopathic IUGR (Intrauterine Growth Restriction) pregnancies, studying embryonic (cord blood) and extraembryonic (placenta and umbilical cord) tissues. We found ICR1 normal methylation levels (∼50%) and H19 promoter/DMR2 hypomethylation in extra-embryonic tissues. In contrast, in embryonic samples the three loci displayed normal methylation values comparable to those in postnatal blood. This feature is stably maintained throughout gestation and does not vary in IUGR cases. We reported asymmetric allelic expression of H19 and IGF2 as a common feature in pre- and post-natal tissues, independent of H19 promoter and DMR2 methylation levels. In addition, we excluded in IUGR post-transcriptional IGF2 interference possibly related to miRNA483-3p (IGF2, intron 2) expression defects. Through LINE1 methylation analysis, we observed a methylation gradient with increasing methylation from pre- to post-natal life. The involvement of UPD (Uniparental Disomy) in IUGR aetiology was excluded. Our data indicate that: (1) ICR1 methylation status is a necessary and sufficient condition to drive the imprinting of IGF2 and H19 present in embryonic as well as in extra-embryonic tissues; (2) hypomethylation of H19 promoter and DMR2 does not influence the expression pattern of IGF2 and H19; (3) there is a gradient of global methylation, increasing from extra-embryonic to embryonic and adult tissues. Finally, because of placental hypomethylation, cautions should be exercised in diagnosis of imprinting diseases using chorionic villi. © 2010 Landes Bioscience.
Marconi A.M.,Surgery and Dentistry |
Mariotti V.,Surgery and Dentistry |
Teng C.,University of Colorado at Denver |
Ronzoni S.,Surgery and Dentistry |
And 3 more authors.
American Journal of Obstetrics and Gynecology | Year: 2010
Objective: To determine the concentration of amino acids in women receiving the first course of antenatal betamethasone and to evaluate the umbilical venous and arterial amino acid concentrations at the time of elective cesarean section after betamethasone administration. Study Design: Blood samples were collected from 34 pregnant women at risk of premature delivery before and 24 and 48 hours after the first course of betamethasone. In addition, maternal and cord blood samples were collected in 13 women undergoing an elective cesarean section between 24 and 192 hours after betamethasone. Results: Maternal amino acid concentrations were significantly increased after the first dose of betamethasone. Overall total amino nitrogen increased 17.5% 24 hours after betamethasone administration and 20.5% after 48 hours. The concentration of most amino acids was increased both in the umbilical vein and artery after maternal betamethasone administration. Conclusion: The concentration of maternal and fetal amino acids increases significantly after betamethasone administration. © 2010 Mosby, Inc. All rights reserved.