Search results for "Fluorescence"
showing 10 items of 2463 documents
Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome
2007
Purpose: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). Methods: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. Results: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. Conclusion: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.
New pattern of EGFR amplification in glioblastoma and the relationship of gene copy number with gene expression profile
2010
Gene amplification is a process that is characterized by an increase in the copy number of a restricted region in a chromosome arm, and is frequently associated with an overexpression of the corresponding amplified gene. Amplified DNA can be organized either as extrachromosomal elements, repeated units at a single locus or scattered throughout the genome. The amplification of the gene for epidermal growth factor receptor (EGFR) is a common finding in glioblastomas and the amplified gene copies appears as double minutes. The aim of this study was to investigate the different patterns of EGFR amplification in 40 cases of glioblastoma using FISH analysis in metaphases and paraffin sections, an…
Alternative lengthening of telomeres--an enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas
2010
Telomere length alterations are known to cause genomic instability and influence clinical course in several tumor types, but have been little investigated in neuroblastoma (NB), one of the most common childhood tumors. In the present study, telomere-dependent chromosomal instability and telomere length were determined in six NB cell lines and fifty tumor biopsies. The alternative lengthening of telomeres (ALT) pathway was assayed by scoring ALT-associated promyelocytic leukemia (PML) bodies (APBs). We found a reduced probability of overall survival for tumors with increased telomere length compared to cases with reduced or unchanged telomere length. In non-MYCN amplified tumors, a reduced o…
Variability in human hepatic MRP4 expression: influence of cholestasis and genotype
2007
The multidrug resistance protein 4 (MRP4) is an efflux transporter involved in the transport of endogenous substrates and xenobiotics. We measured MRP4 mRNA and protein expression in human livers and found a 38- and 45-fold variability, respectively. We sequenced 2 kb of the 5'-flanking region, all exons and intron/exon boundaries of the MRP4 gene in 95 patients and identified 74 genetic variants including 10 non-synonymous variations, seven of them being located in highly conserved regions. None of the detected polymorphisms was significantly associated with changes in the MRP4 mRNA or protein expression. Immunofluorescence microscopy indicated that none of the non-synonymous variations af…
FISH screening of aneuploidies in preimplantation embryos to improve IVF outcome
2005
Preimplantation genetic diagnosis (PGD) has transformed the approach to the infertility patient in the IVF setting. Although the principal applications of PGD have been to prevent the transmission of sex-linked diseases, in time and with growing knowledge of the chromosomal abnormalities observed in preimplantation embryos, its applications have widened. Nowadays, apart from its implications in the prevention of transmission of chromosomal and genetic abnormalities, PGD is being used with increased frequency to improve the IVF outcome in patients with advanced maternal age (or =38 years of age), recurrent miscarriage (or =2 miscarriages), recurrent IVF failure (or =3 failed IVF attempts) an…
Translocation (X;18) in a Biphasic Synovial Sarcoma with Morphologic Features of Neural Differentiation
1998
The authors report a recurred neoplasm showing distinctive histologic, immunophenotypic, and ultrastructural features characteristic of biphasic synovial sarcoma with neural differentiation. The features include areas with a growth pattern of densely packed spindle cells in irregularly intersecting, broad fascicles, diffuse vimentin and HBA 71 immunoreactivity, expression of S-100 protein, and other neural markers. Moreover, areas with glandular structures and cellular expression of cytokeratin and epithelial membrane antigen were noted. Additionally, areas of neural-like growth pattern were positive for neuron-specific enolase, HNK-1, and protein gene product 9.5. Furthermore, cytogenetic …
A case of agammaglobulinemia characterized by a defect of B-lymphocyte-differentiation to plasma cells
1974
Humoral and cell-mediated immune reactions of a 36-year old patient with a late onset of an agammaglobulinaemia and of his immediate relatives have been investigated. The immunoglobulins gamma-G, gamma-A, gamma-M, gamma-E and gamma-D, and plasma cells in the bone marrow could not be detected in the patient's serum. Immune reactions with PPD and tetanus toxoid as well as the stimulation of the lymphocytes with PHA indicate that the T-cell system was intact. The examination of the peripheral blood lymphocytes by immunofluorescence techniques gave a normal number of B-lymphocytes. These findings could be corroborated by the results of lymphocyte stimulations with anti-IgG. The data suggest tha…
Direct visualization of oral-cavity tissue fluorescence as novel aid for early oral cancer diagnosis and potentially malignant disorders monitoring.
2011
Direct visualization of the oral tissue autofluorescence has been recently reviewed in several studies as a possible adjunctive tool for early recognition and diagnosis of potentially malignant and malignant oral disorders. The aims of this study were to assess: a) the value of a simple handheld device for tissue auto-fluorescence visualization of potentially malignant oral lesions; and b) the sensitivity, specificity and diagnostic accuracy of tested device, using histological examination as the gold standard. 175 consecutive patients, with at least one clinical oral lesion, were enrolled in the study. Clinical conventional inspections were performed for each patient by two blind operator…
Cellular ultrastructure of the ruptured anterior cruciate ligament. A transmission electron microscopic and immunohistochemical study in 55 cases.
1994
To evaluate the cellular ultrastructure following injury, we examined the anterior cruciate ligaments in 55 patients with complete tears in different phases after the injury and compared them to a control group of 39 cadaver knees. Samples were analyzed by electron microscopy, immunofluorescence, and ultramorphometry. After an invasion of inflammatory cells into the stumps of the ruptured ligaments, a marked proliferation of fibroblasts was found at the end of Phase 1 (2-3 days after the ligament injury), that was even more pronounced at the beginning of Phase II (4-17 days). These cells were initially highly metabolically active and secreted Type III collagen precursors. In Phase III (4-45…
Glomerul�re Amyloidose des Menschen ? unter besonderer Ber�cksichtigung der Proteinurie und der Amyloidogenese
1980
Light and electron microscopic investigations were carried out on kidney biopsies in renal amyloidosis cases. Particular attention was paid to the relationships between glomerular amyloidosis and proteinuria.