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Reliability of short comparative genomic hybridization in fibroblasts and blastomeres for a comprehensive aneuploidy screening: first clinical application

RIUS, M.; OBRADORS, A.; DAINA, G.; CUZZI, J.; MARQUES, L.; CALDERON, G.; VELILLA, E.; MARTINEZ-PASSARELL, O.; OLIVER-BONET, M.; BENET, J.; NAVARRO, J.
Fonte: OXFORD UNIV PRESS Publicador: OXFORD UNIV PRESS
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
95.9%
BACKGROUND: Comparative genomic hybridization (CGH) is a valuable alternative to fluorescence in situ hybridization (FISH) for preimplantation genetic screening (PGS) because it allows full karyotype analysis. However, this approach requires the cryopreservation of biopsied embryos until results are available. The aim of this study is to reduce the hybridization period of CGH, in order to make this short-CGH technique suitable for PGS of Day-3 embryos, avoiding the cryopreservation step. METHODS: Thirty-two fibroblasts from six aneuploid cell lines (Coriell) and 48 blastomeres from 10 Day-4 embryos, discarded after PGS by FISH with 9 probes (9-chr-FISH), were analysed by short-CGH. A reanalysis by the standard 72 h-CGH and FISH using telomeric probes was performed when no concordant results between short-CGH and FISH diagnosis were observed. The short-CGH was subsequently applied in a clinical case of advanced maternal age. RESULTS: In 100% of the fibroblasts analysed, the characteristic aneuploidies of each cell line were detected by short-CGH. The results of the 48 blastomeres screened by short-CGH were supported by both 72 h-CGH results and FISH reanalysis. The chromosomes most frequently involved in aneuploidy were 22 and 16, but aneuploidies for the other chromosomes...

Fluorescence in situ hybridization with rDNA probes on chromosomes of two nucleolus organizer region phenotypes of a species of Eigenmannia (Pisces, Gymnotoidei, Sternopygidae)

De Almeida-Toledo, Lurdes Foresti; Stocker, Ann Jacob; Foresti, Fausto; De Almeida Toledo-Filho, Silvio
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 301-305
ENG
Relevância na Pesquisa
125.99%
Nucleolus organizer regions (NORs) were analysed in two related and geographically close populations of Eigenmannia sp.1 (Pisces, Gymnotoidei, Sternopygidae) using silver staining and fluorescence in situ hybridization (FISH). The two populations differed in their AS-NOR phenotypes, displaying fixed differences in the NOR-bearing chromosome pairs. FISH with rDNA probes showed that these differences were due to the location of rDNA cistrons. This finding, showing fixed NOR differences between two populations belonging to the same species in a connected river system, is highly significant in terms of evolutionary change, possibly indicating an initial step of genetic differentiation. This result also has important implications from the cytosystematic point of view, as NORs usually have a very constant karyotypic location in fish species and have been used as species-specific chromosome markers.

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Silva, Ana Elizabete; Vayego-Lourenço, Sheila Adami; Fett-Conte, Agnes Cristina; Goloni-Bertollo, Eny Maria; Varella-Garcia, Marileila
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 290-294
ENG
Relevância na Pesquisa
125.99%
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.

Clinical outcome in chronic myeloid leukemia after allogeneic hematopoietic stem cell transplantation: The experience of the Bone Marrow Transplantation Unit of FUNFARME/BRAZIL using FISH

Vendrame-Goloni, C. B.; Carvalho-Salles, A. B.; Ruiz, M. A.; Ricci, O.; Varella-Garcia, M.; Fett-Conte, A. C.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 417-423
ENG
Relevância na Pesquisa
95.94%
Investigation of the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in chronic myeloid leukemia patients is essential to predict prognosis and survival. In 20 patients treated at the Bone Marrow Transplantation Unit of São José do Rio Preto (São Paulo, Brazil), we used fluorescence in situ hybridization (FISH) to investigate the frequency of cells with BCR/ABL rearrangement at diagnosis and at distinct intervals after allo-HSCT until complete cytogenetic remission (CCR). We investigated the disease-free survival, overall survival in 3 years and transplant-related mortality rates, too. Bone marrow samples were collected at 1, 2, 3, 4, 6, 12, and 24 months after transplantation and additional intervals as necessary. Success rate of the FISH analyses was 100%. CCR was achieved in 75% of the patients, within on average of 3.9 months; 45% patients showed CCR within 60 days after HSCT. After 3 years of the allo-HSCT, overall survival rate was 60%, disease-free survival was 50% and the transplant-related mortality rate was 40%. The study demonstrated that the BCR-ABL FISH assay is useful for follow-up of chronic myeloid leukemia patients after HSCT and that the clinical outcome parameters in our patient cohort were similar to those described for other bone marrow transplantation units. ©FUNPEC-RP.

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Barbosa-Gonçalves, A.; Vendrame-Goloni, C. B.; Martins, A. L B; Fett-Conte, A. C.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 527-533
ENG
Relevância na Pesquisa
95.94%
Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied...

Evaluating heterotrophic growth in a nitrifying biofilm reactor using fluorescence in situ hybridization and mathematical modeling

Nogueira, R.; Elenter, D.; Brito, A. G.; Melo, L. F.; Wagner, Michael; Morgenroth, E.
Fonte: IWA Publishing Publicador: IWA Publishing
Tipo: Artigo de Revista Científica
Publicado em //2005 ENG
Relevância na Pesquisa
125.87%
The objective of this study was to evaluate the significance of heterotrophic growth in nitrifying biofilm reactors fed only with ammonium as an energy source. The diversity, abundance and spatial distribution of nitrifying bacteria were studied using a combination of molecular tools and mathematical modeling, in two biofilm reactors operated with different hydraulic retention times. The composition and distribution of nitrifying consortia in biofilms were quantified by fluorescence in situ hybridization (FISH) with rRNA-targeted oligonucleotide probes combined with confocal laser scanning microscopy (CLSM) and digital image analysis. Autotrophic and heterotrophic biofilm fractions determined by FISH were compared to the output from a multispecies model that incorporates soluble microbial products (SMP) production/consumption. In reactor R1 (short retention time) nearly 100% of the total bacteria could be identified as either ammonia- or nitrite-oxidizing bacteria by quantitative FISH analyses, while in reactor R2 (long retention time) the identification rate was only 73%, with the rest probably consisting of heterotrophs. Mathematical simulations were performed to evaluate the influence of the hydraulic retention time (HRT), biofilm thickness...

Evaluating heterotrophic growth in a nitrifying biofilm reactor using fluorescence in situ hybridization and mathematical modeling

Nogueira, R.; Elenter, D.; Brito, A. G.; Melo, L. F.; Wagner, Michael; Morgenroth, E.
Fonte: IWA publishing Publicador: IWA publishing
Tipo: Conferência ou Objeto de Conferência
Publicado em //2004 ENG
Relevância na Pesquisa
125.87%
The objective of this study was to evaluate the significance of heterotrophic growth in nitrifying biofilm reactors fed only with ammonium as an energy source. The diversity, abundance and spatial distribution of nitrifying bacteria were studied using a combination of molecular tools and mathematical modeling, in two biofilm reactors operated with different hydraulic retention times. The composition and distribution of nitrifying consortia in biofilms were quantified by fluorescence in situ hybridization (FISH) with rRNA-targeted oligonucleotide probes combined with confocal laser scanning microscopy (CLSM) and digital image analysis. Autotrophic and heterotrophic biofilm fractions determined by FISH were compared to the output from a multispecies model that incorporates soluble microbial products (SMP) production/consumption. In reactor R1 (short retention time) nearly 100% of the total bacteria could be identified as either ammonia- or nitrite-oxidizing bacteria by quantitative FISH analyses, while in reactor R2 (long retention time) the identification rate was only 73%, with the rest probably consisting of heterotrophs. Mathematical simulations were performed to evaluate the influence of the hydraulic retention time (HRT), biofilm thickness...

Fluorescence in situ hybridization method using a peptide nucleic acid probe for identification of Lactobacillus spp. in milk samples

Machado, António; Almeida, Carina; Carvalho, Ana; Boyen, Filip; Haesebrouck, Freddy; Rodrigues, L. R.; Cerca, Nuno; Azevedo, N. F.
Fonte: Elsevier; Elsevier BV Publicador: Elsevier; Elsevier BV
Tipo: Artigo de Revista Científica
Publicado em //2013 ENG
Relevância na Pesquisa
115.84%
Lactobacillus species constitute one of the dominant and beneficial bacteria in our body and are used in developed countries as a microbial adjuvant. Identification of these probiotic bacteria is traditionally performed by culture-based techniques. However, such methods are very time-consuming and can give inaccurate results, especially when Lactobacillus is present in mixed bacterial complex communities. Our study aimed to accurately identify Lactobacillus spp. using a novel Peptide Nucleic Acid (PNA) Fluorescence In Situ Hibridization (FISH) probe. The probe (Lac663) was tested on 36 strains belonging to different Lactobacillus species and on 20 strains of other bacterial species. The sensitivity and specificity of the method were 100% (95% confidence interval (CI), 88.0 to 100.0%) and 95.0% (95% CI, 73.1 to 99.7%), respectively. Additionally, we tested the applicability of the method on milk samples added with Lactobacillus strains at probiotic range concentrations and others taxonomically related bacteria, as well as pathogenic bacteria. The Lac663 probe bound exclusively to Lactobacillus strains and the described PNA-FISH method was capable of directly quantifying Lactobacillus spp. in concentrations at which these potential probiotic bacteria are considered to have an effective benefit on human health.

Fluorescence in situ hybridization method using peptide nucleic acid probes for rapid detection of Lactobacillus and Gardnerella spp

Machado, António; Almeida, Carina; Salgueiro, D. A. L.; Henriques, Ana Filipa Frutuoso Mendes; Vaneechoutte, Mario; Haesebrouck, Freddy; Vieira, M. J.; Rodrigues, L. R.; Azevedo, N. F.; Cerca, Nuno
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em //2013 ENG
Relevância na Pesquisa
125.87%
Background: Bacterial vaginosis (BV) is a common vaginal infection occurring in women of reproductive age. It is widely accepted that the microbial switch from normal microflora to BV is characterized by a decrease in vaginal colonization by Lactobacillus species together with an increase of Gardnerella vaginalis and other anaerobes. Our goal was to develop and optimize a novel Peptide Nucleic Acid (PNA) Fluorescence in situ Hybridization assay (PNA FISH) for the detection of Lactobacillus spp. and G. vaginalis in mixed samples. Results: Therefore, we evaluated and validated two specific PNA probes by using 36 representative Lactobacillus strains, 22 representative G. vaginalis strains and 27 other taxonomically related or pathogenic bacterial strains commonly found in vaginal samples. The probes were also tested at different concentrations of G. vaginalis and Lactobacillus species in vitro, in the presence of a HeLa cell line. Specificity and sensitivity of the PNA probes were found to be 98.0% (95% confidence interval (CI), from 87.8 to 99.9%) and 100% (95% CI, from 88.0 to 100.0%), for Lactobacillus spp.; and 100% (95% CI, from 92.8 to 100%) and 100% (95% CI, from 81.5 to 100.0%) for G. vaginalis. Moreover, the probes were evaluated in mixed samples mimicking women with BV or normal vaginal microflora...

Diagnosis of bacterial vaginosis by a new multiplex peptide nucleic acid fluorescence in situ hybridization method

Machado, António; Castro, J.; Cereija, Tatiana; Almeida, Carina; Cerca, Nuno
Fonte: PeerJ Inc Publicador: PeerJ Inc
Tipo: Artigo de Revista Científica
Publicado em 17/02/2015 ENG
Relevância na Pesquisa
105.8%
Bacterial vaginosis (BV) is one of most common vaginal infections. However, its diagnosis by classical methods reveals low specificity. Our goal was to evaluate the accuracy diagnosis of 150 vaginal samples with research gold standard methods and our Peptide Nucleic Acid (PNA) probes by Fluorescence in situHybridization (FISH) methodology. Also, we described the first PNA-FISH methodology for BV diagnosis, which provides results in approximately 3 h. The results showed a sensitivity of 84.6% (95% confidence interval (CI), from 64.3 to 95.0%) and a specificity of 97.6% (95% CI [92.699.4%]), demonstrating the higher specificity of the PNA-FISH method and showing false positive results in BV diagnosis commonly obtained by the classical methods. This methodology combines the specificity of PNA probes for Lactobacillus species and G. vaginalis visualization and the calculation of the microscopic field by Nugent score, allowing a trustful evaluation of the bacteria present in vaginal microflora and avoiding the occurrence of misleading diagnostics. Therefore, the PNA-FISH methodology represents a valuable alternative for BV diagnosis.

Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Silva,Ana Elizabete; Vayego-Lourenço,Sheila Adami; Fett-Conte,Agnes Cristina; Goloni-Bertollo,Eny Maria; Varella-Garcia,Marileila
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2002 EN
Relevância na Pesquisa
125.88%
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.

Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

Sugayama,Sofia Mizuho Miura; Koch,Vera Hermina Kalika; Furusawa,Érica Arai; Leone,Cláudio; Kim,Chong Ae
Fonte: Faculdade de Medicina / Universidade de São Paulo - FM/USP Publicador: Faculdade de Medicina / Universidade de São Paulo - FM/USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2004 EN
Relevância na Pesquisa
125.94%
PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome...

Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

Sugayama,Sofia Mizuho Miura; Moisés,Regina Lúcia; Wagënfur,Jaqueline; Ikari,Nana Miura; Abe,Kikue Terada; Leone,Cláudio; Silva,Clóvis Artur Almeida da; Chauffaille,Maria de Lourdes Lopes Ferrari; Chong,Ae Kim
Fonte: Sociedade Brasileira de Cardiologia - SBC Publicador: Sociedade Brasileira de Cardiologia - SBC
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/11/2003 EN
Relevância na Pesquisa
115.84%
OBJECTIVE: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. METHODS: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm the diagnosis of the syndrome. RESULTS: Elastin gene locus microdeletion was detected in 17 patients (85%) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94%) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). We observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). Four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old)...

Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome

Stewart, C.; Baker, E.; Beaton, C.; Crook, M.; Peverall, J.; Wallace, S.
Fonte: Blackwell Science Ltd Publicador: Blackwell Science Ltd
Tipo: Artigo de Revista Científica
Publicado em //2008 EN
Relevância na Pesquisa
125.87%
Aims: To evaluate fluorescence in situ hybridization (FISH) for SRY, the testis-determining gene on the Y-chromosome, in gonadal specimens from patients with intersex disorders including two older individuals presenting with Sertoli cell adenomas and clinically unsuspected androgen insensitivity syndrome (AIS). Methods and results: FISH, using probes for SRY and the X-centromere, was performed on two Sertoli cell adenomas presenting as ovarian masses in phenotypic females aged 62 and 73 years with previously undiagnosed AIS. Gonadal biopsies and tumours from eight additional patients with known intersex disorders and XY phenotype were also studied. Signal for SRY was demonstrated in at least one specimen from all patients, and from 16/18 (89%) specimens overall. The specificity of FISH was determined by analysis of 10 sporadic ovarian tumours including six dysgerminomas and four Sertoli-Leydig cell tumours: all cases expressed a female XX chromosomal signal. Conclusions: The demonstration of SRY using FISH is useful in the assessment of gonadal specimens from patients with intersex disorders, particularly in older individuals where the diagnosis may be unsuspected clinically. However, it may be necessary to examine multiple specimens in some cases to confirm the presence of Y-chromosomal material; Copyright © 2008 John Wiley & Sons

The in situ physiology of "Nostocoida limicola" II, a filamentous bacterial morphotype in bulking activated sludge, using fluorescence in situ hybridization and microautoradiography

Seviour, E.; Eales, K.; Izzard, L.; Beer, M.; Carr, E.; Seviour, R.
Fonte: I W A Publishing Publicador: I W A Publishing
Tipo: Artigo de Revista Científica
Publicado em //2006 EN
Relevância na Pesquisa
125.91%
The in situ physiology of the actinobacterial bulking and foaming filamentous bacterium “Nostocoida limicola” II was studied by fluorescence in situ hybridization/microautoradiography. Substrate assimilation patterns of pure cultures of this bacterium were different to those seen in activated sludge biomass samples. There was no evidence to suggest that “N. limicola” II preferred hydrophobic substrates, but evidence was produced to support the view that it is metabolically active under anaerobic conditions in activated sludge.; E.M. Seviour, K. Eales, L. Izzard, M. Beer, E.L. Carr and R.J. Seviour

Bestimmung des HER-2/neu-Status an Tumorabklatschpräparaten von Mammakarzinomen mittels Fluoreszenz-in-situ-Hybridisierung (FISH) – Validierung der Ergebnisse durch Vergleich mit konventionellen Paraffinschnitten und einem Gewebemultiblockschnitt; Determination of the Her-2/neu-status on touch-prints of breast carcinomas by fluorescence-in-situ-hybridization (FISH) – Validation of the results by comparison with conventional paraffin-slides and a tissue microarray

Arnold, Regine
Fonte: Universidade de Tubinga Publicador: Universidade de Tubinga
Tipo: Dissertação
DE_DE
Relevância na Pesquisa
125.92%
Ein positiver HER-2/neu-Status ist zum gegenwärtigen Zeitpunkt einziges Kriterium für eine Therapie mit dem humanisierten monoklonalen Antikörper Trastuzumab (Herceptin®) beim metastasierten Mammakarzinom. Der Nachweis wird entweder durch die Immunhistochemie (IHC) zur Erfassung einer membranständigen HER-2/neu-Rezeptor-Überexpression oder durch die Fluoreszenz-in-situ-Hybridisierung (FISH) zur Ermittlung einer HER-2/neu-Genamplifikation erbracht. Beide Verfahren verwenden routinemäßig Formalin-fixierte, in Paraffin eingebettete (FFPE-) Präparate. In der vorliegenden Dissertation wurden FISH-Analysen an Tumorabklatschpräparaten von 150 Mammakarzinomen durchgeführt. Dazu wurde der für FFPE-Präparate optimierte PathVysion™ HER-2 DNA Sonden-Kit mit einem abgeänderten Protokoll an Tumorabklatschpräparaten etabliert. Durch zwei verschiedene Bewertungsmaßstäbe konnte der HER-2/neu-Status zuverlässig ermittelt werden: Anhand der Vysis-Ratio betrug die Übereinstimmung zu konventionellen Paraffinschnitten bzw. einem Gewebemultiblockschnitt 100% bzw. 98,9%, nach der Ventana-Klassifizierung 76,0% bzw. 87,1%. An Tumorabklatschpräparaten wurden dabei 12 Low-Level-Amplifikationen (LLA) nach Ventana detektiert, die durch die Vysis-Ratio an keinem Material erkannt wurden. Darüberhinaus wurden die LLA am Gewebemultiblockschnitt bis auf eine Ausnahme nicht erfasst. Als Ursache für diese Diskrepanzen konnten die exaktere und schnittunabhängige Signalerfassung an Tumorabklatschpräparaten und ein besonders dünner Gewebemultiblockschnitt verantwortlich gemacht werden. Durch genaue Signalaufschlüsselung war in 4 Fällen eine weitere Klassifizierung mit eventueller Therapierelevanz möglich. Tumorabklatschpräparate liefern somit der Paraffinhistologie qualitativ und quantitativ gleichwertige Ergebnisse bei einer differenzierteren Befunderhebung in nach Ventana grenzwertig niedrig amplifizierten Mammakarzinomen.; At present a positive Her-2/neu-status is the only selection criteria for treatment of metastasized breast cancer with the humanized monoclonal antibody Trastuzumab (Herceptin®). The Her-2/neu-status is determined either by immunohistochemistry (IHC) for documentation of the membrane associated overexpression of the Her-2/neu-receptor or by fluorescence-in-situ-hybridization (FISH) for detection of the Her-2/neu gene amplification. Routinely...

Validation of a fluorescence in situ hybridization method using peptide nucleic acid probes for detection of helicobacter pylori clarithromycin resistance in gastric biopsy specimens

Cerqueira, L.; Fernandes, RM.; Ferreira, RM.; Oleastro, M.; Carneiro, F.; Brandão, C.; Pimentel-Nunes, P.; Dinis-Ribeiro, M.; Figueiredo, C.; Keevil, CW.; Vieira, MJ.; Azevedo, NF.
Fonte: American Society for Microbiology Publicador: American Society for Microbiology
Tipo: Artigo de Revista Científica
Publicado em 17/04/2013 ENG
Relevância na Pesquisa
125.87%
Here, we evaluated a previously established peptide nucleic acid-fluorescence in situ hybridization (PNA-FISH) method as a new diagnostic test for Helicobacter pylori clarithromycin resistance detection in paraffin-embedded gastric biopsy specimens. Both a retrospective study and a prospective cohort study were conducted to evaluate the specificity and sensitivity of a PNA-FISH method to determine H. pylori clarithromycin resistance. In the retrospective study (n 30 patients), full agreement between PNA-FISH and PCR-sequencing was observed. Compared to the reference method (culture followed by Etest), the specificity and sensitivity of PNA-FISH were 90.9% (95% confidence interval [CI], 57.1% to 99.5%) and 84.2% (95% CI, 59.5% to 95.8%), respectively. In the prospective cohort (n 93 patients), 21 cases were positive by culture. For the patients harboring clarithromycin- resistant H. pylori, the method showed sensitivity of 80.0% (95% CI, 29.9% to 98.9%) and specificity of 93.8% (95% CI, 67.7% to 99.7%). These values likely represent underestimations, as some of the discrepant results corresponded to patients infected by more than one strain. PNA-FISH appears to be a simple, quick, and accurate method for detecting H. pylori clarithromycin resistance in paraffin-embedded biopsy specimens. It is also the only one of the methods assessed here that allows direct and specific visualization of this microorganism within the biopsy specimens...

Évaluation de la fréquence des micronoyaux et du potentiel clastogène et/ou aneugène du benzo-a-pyrène suite à une exposition in vitro des lymphocytes humains

Pham, Thi Cam Van
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
FR
Relevância na Pesquisa
95.88%
Le benzo-a-pyrène (BaP) est un cancérogène reconnu pour l'homme, contaminant présent dans notre environnement. Il cause des dommages à l'ADN que nous avons mesurés dans les lymphocytes exposés à de faibles concentrations de BaP, provenant de 20 jeunes volontaires non fumeurs et en santé. Suite à l’exposition, la fréquence des micronoyaux (MN) augmente significativement et décrit une courbe dose-réponse non linéaire, suggérant le déclenchement du processus de détoxification et la réparation de l’ADN. Des différences entre les individus et entre les sexes sont présentes dans la réponse génotoxique produite par le BaP. Le test des aberrations chromosomiques montre que le pourcentage de chromosomes cassés augmente significativement dans les cellules exposées au BaP. Combinés avec l'augmentation de la fréquence des MN, nos résultats confirment l'effet clastogène du BaP déjà rapporté dans la littérature. L’hybridation in situ en fluorescence (FISH) des MN avec une sonde pancentromérique est aussi utilisée pour établir leur mécanisme de formation. La FISH révèle que la majorité des MN formés après une exposition au BaP contient un centromère et plus, ce qui est significativement différent de la condition non exposée. Plus précisément...

Are NORs Always Located on Homeologous Chromosomes? A FISH Investigation with rDNA and Whole Chromosome Probes in Gymnotus Fishes (Gymnotiformes)

Milhomem, Susana S. R.; Scacchetti, Priscilla C.; Pieczarka, Julio C.; Ferguson-Smith, Malcolm A.; Pansonato-Alves, José C.; O'Brien, Patricia C. M.; Foresti, Fausto; Nagamachi, Cleusa Y.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
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Gymnotus (Gymnotiformes, Gymnotidae) is the most diverse known Neotropical electric knife fish genus. Cytogenetic studies in Gymnotus demonstrate a huge karyotypic diversity for this genus, with diploid numbers ranging from 34 to 54. The NOR are also variable in this genus, with both single and multiple NORs described. A common interpretation is that the single NOR pair is a primitive trait while multiple NORs are derivative. However this hypothesis has never been fully tested. In this report we checked if the NOR-bearing chromosome and the rDNA site are homeologous in different species of the genus Gymnotus: G. carapo (2n = 40, 42, 54), G. mamiraua (2n = 54), G. arapaima (2n = 44), G. sylvius (2n = 40), G. inaequilabiatus (2n = 54) and G. capanema (2n = 34), from the monophyletic group G. carapo (Gymnotidae-Gymnotiformes), as well as G. jonasi (2n = 52), belonging to the G1 group. They were analyzed with Fluorescence in situ hybridization (FISH) using 18S rDNA and whole chromosome probes of the NOR-bearing chromosome 20 (GCA20) of G. carapo (cytotype 2n = 42), obtained by Fluorescence Activated Cell Sorting. All species of the monophyletic G. carapo group show the NOR in the same single pair, confirmed by hybridization with CGA20 whole chromosome probe. In G. jonasi the NORs are multiple...

Achados renais e urinários em 20 pacientes com síndrome de Williams-Beuren diagnosticados pelo teste de hibridização in situ por fluoresceína (FISH); Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

Sugayama, Sofia Mizuho Miura; Koch, Vera Hermina Kalika; Furusawa, Érica Arai; Leone, Cláudio; Kim, Chong Ae
Fonte: Universidade de São Paulo. Faculdade de Medicina Publicador: Universidade de São Paulo. Faculdade de Medicina
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; ; ; ; ; Formato: application/pdf
Publicado em 01/01/2004 ENG
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OBJETIVO: A síndrome de Williams-Beuren é uma rara síndrome de deleção de genes contíguos que cursa com múltiplas anomalias congênitas, deficiência mental e anomalias renais e urinárias. O objetivo deste trabalho foi determinar a freqüência e os tipos de anomalias renais e urinárias em 20 pacientes com síndrome de Williams-Beuren diagnosticados pelo teste de hibridização in situ por fluorescência. MÉTODOS: Estudou-se prospectivamente os aspectos renais e urinários através de avaliação laboratorial da função renal, ultrassonografia de rins e vias urinárias, uretrocistografia miccional e estudo urodinâmico. O teste da hibridização in situ por fluorescência com a sonda LSI Williams Region foi feito nos 20 pacientes com síndrome de Williams-Beuren para a confirmação do diagnóstico. RESULTADOS E DISCUSSÃO: A deleção do gene da elastina (teste de hibridização in situ por fluorescência positivo) foi detectado em 17/20 afetados (85%). As alterações renais foram diagnosticadas em 5/17 (29%) dos pacientes com a deleção e em 1/3 dos indivíduos sem a deleção. Catorze pacientes com a deleção apresentavam disfunções miccionais. A hipertensão arterial foi diagnosticada em três pacientes com a deleção e um deles apresentava estenose bilateral das artérias renais. CONCLUSÕES: Devido à elevada incidência de anormalidades renais e do trato urinário na síndrome de Williams-Beuren...