Search results for " SIT"
showing 10 items of 2985 documents
The autoantigen La/SS-B: Analysis of the expression of alternatively spliced La mRNA isoforms
1996
The gene for the nuclear autoantigen La/SS-B encodes two La mRNA isoforms. In order to study the function and expression of both La mRNA forms, an in situ hybridization procedure was developed allowing the selective identification of either exon 1 or exon 1'. For this purpose, digoxigenin-labeled exon-specific sense and anti-sense probes were prepared by in vitro transcription from plasmids that contained the respective exon sequence. Detection of the probes was carried out by using rhodamine-conjugated anti-digoxigenin antibody and confocal laser scanning microscopy. Both La mRNAs were found in the cytoplasm of endothelial cells but not in smooth muscle cells. In addition to the in situ te…
Lack of Hypoxic Response in Uterine Leiomyomas despite Severe Tissue Hypoxia
2008
Abstract Hypoxia is now established as a key factor influencing the pathophysiology of malignant growth. Among other effects, hypoxia modulates the expression of a multitude of genes through the induction of hypoxia-inducible transcription factors. This differential gene expression favors angiogenesis, cell survival, an invasive/metastatic phenotype, and resistance to anticancer therapies. Because benign tumors do not exhibit these traits, one might expect these entities to be neither hypoxic nor to induce the genetic hypoxia response program. To test this hypothesis, an investigation of the oxygenation status of 17 leiomyomas and 1 leiomyosarcoma of the uterus using polarographic needle el…
Recombinations of chromosomal bands 10q24, 12q14-q15, and 14q24 in two cases of pulmonary chondroid hamartoma studied by fluorescence in situ hybridi…
2003
Abstract Pulmonary chondroid hamartomas (PCH) are benign mesenchymal tumors consisting of at least two cytogenetic subgroups. These subgroups are defined by chromosomal alterations at either 12q14∼q15 or 6p21. Cytogenetic analysis of short-term cultures from two PCHs revealed two different rearrangements with 12q14∼q15. One of these had a unique translocation t(12;14)(q14∼15;q24) with presence of two normal chromosomes 12 and a der(14), but missing the der(12). The other showed a complex rearrangement between chromosomes 10 and 12 with two different derivatives. Our data have been confirmed with fluorescence in situ hybridization analysis. These cases represent variant forms of the standard…
EPDR1 up-regulation in human colorectal cancer is related to staging and favours cell proliferation and invasiveness
2020
The finding of novel molecular markers for prediction or prognosis of invasiveness in colorectal cancer (CRC) constitutes an appealing challenge. Here we show the up-regulation of EPDR1 in a prospective cohort of 101 CRC patients, in a cDNA array of 43 patients and in in silico analyses. EPDR1 encodes a protein related to ependymins, a family of glycoproteins involved in intercellular contacts. A thorough statistical model allowed us to conclude that the gene is significantly up-regulated in tumour tissues when compared with normal mucosa. These results agree with those obtained by the analysis of three publicly available databases. EPDR1 up-regulation correlates with the TNM staging parame…
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
2015
Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55 % of cases) and EP300 (~8 %) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30–50 %) and deletions (~10 %). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecu…
The influence of alcohol on cognitive conflict.
1985
The influence of alcohol on cognitive conflict between individuals was studied by means of an experiment that was designed to be representative of real life negotiating situations, where alcohol is consumed and where two parties are required to find new common solutions to problems that they have previously learned to solve differently by themselves. The subjects were 60 male students of technology divided into experimental and control groups. The amount of alcohol (whisky) consumed by the experimental subjects produced approximately 0.08% blood alcohol concentration. In the experiment, the cognitive conflict situation was created by first training subjects to solve diagnostic medical tasks…
Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a mediterranean population: Interaction with tobacco smoking and the APOE locus
2002
We conducted a cross-sectional study in a Spanish population (n = 1,029) to investigate associations between the LPL and APOC3 gene loci (LPL-HindIII, LPL-S447X, and APOC3-SstI) and plasma lipid levels and their interaction with APOE polymorphisms and smoking. Carriers of the H− or the X447 allele had higher levels of HDL cholesterol (HDL-C), and lower levels of TG, after adjustment for age, body mass index, alcohol, smoking, exercise, and education (P < 0.01). The APOC3 polymorphism presented additive effects to the LPL variants on TG and HDL-C levels in men, and on TG in women. The most and the least favorable haplotype combinations were H−/X447/S1 and H+/S447/S2, respectively. These comb…
Risk of surgical site infections following hip and knee arthroplasty: Results of the ischia-gisio study
2017
Surgical Site Infection (SSI) is one of the major complications following insertion of hip or knee prosthesis. The aim of the present study was to describe rates of SSIs and associated risk factors during hip and knee prosthesis procedures in Italian hospitals. METHODS: Italian hospitals were invited to join the ISChIA (Surgical Site Infections in Arthroplasty Surgery) project and participated in the study on a voluntary basis. SSI surveillance was performed according to the Hospitals in Europe Link for Infection Control through Surveillance (HELICS) -SSI protocol. The study population consisted of all patients who had a prosthetic knee or hip joint replacement between March 2010 and Februa…
Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ…
2011
Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positi…
Variant Three-Way Translocation of Inversion 16 in AML-M4Eo Confirmed by Fluorescence In Situ Hybridization Analysis
1999
The inv(16) and t(16;16) characterize a subgroup of acute myelomonocytic leukemia (AML) with distinct morphological features and a favorable prognosis. Both cytogenetic abnormalities result in a fusion of CBF beta at 16q22 and MYH11 gene at 16p13, whose detection by PCR and fluorescence in situ hybridization (FISH) is useful for diagnosis and monitoring of the disease. Variant translocations of inv(16)/t(16;16) are very rare and whether they are also associated with a favorable prognosis is unknown. We report a patient presenting with typical AML-M4Eo and a three-way translocation of inv(16) involving 16p13, 16q22, and 3q22. FISH studies on bone marrow (BM) chromosomes using CBFB and MYH11 …