FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the added value of extended aneuploidy detection

2006 ◽  
Vol 27 (1) ◽  
pp. 55-63 ◽  
Author(s):  
E. B. Baart ◽  
I. van den Berg ◽  
E. Martini ◽  
H. J. Eussen ◽  
B. C. J. M. Fauser ◽  
...  
Keyword(s):  
Added Value ◽  
Preimplantation Embryos ◽  
Fish Analysis

A Retrospective Study of Preimplantation Embryos Diagnosed With Monosomy by FISH Analysis

2005 ◽  
Vol 84 ◽  
pp. S333
Author(s):  
L. Cooper ◽  
W.S. Wun ◽  
S.C. Angus ◽  
D.E. Mensing ◽  
G.M. Grunert ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Preimplantation Embryos ◽  
Fish Analysis

scholarly journals P12 Efficacy of 24 chromosome FISH analysis in preimplantation embryos

2010 ◽  
Vol 20 ◽  
pp. S26-S27
Author(s):  
S. Fernández ◽  
A. Colomar ◽  
E. Toro ◽  
S. Chamosa ◽  
M. López-Teijón ◽  
...  
Keyword(s):  
Preimplantation Embryos ◽  
Fish Analysis

Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

2020 ◽  
Vol 35 (10) ◽  
pp. 2391-2398 ◽  
Author(s):  
A Graff ◽  
B Donadille ◽  
H Morel ◽  
M C Villy ◽  
N Bourcigaux ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Blood Lymphocyte ◽  
Added Value ◽  
Buccal Cell ◽  
National Database ◽  
Invasive Technique ◽  
Fish Analysis ◽  
Registration Number ◽  
Competing Interest ◽  
X Cells

Abstract STUDY QUESTION Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient’s phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A

scholarly journals Diagnostic accuracy of bronchial brush cytology and the added value of immunohistochemistry and fluorescence in situ hybridization of pulmonary neuroendocrine tumors

CytoJournal ◽  
2014 ◽  
Vol 11 ◽  
pp. 32 ◽  
Author(s):  
Jordan P. Reynolds ◽  
Jesse S. Voss ◽  
Shannon M. Brankley ◽  
Jill M. Caudill ◽  
Michael R. Henry ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Small Cell Lung Carcinoma ◽  
Added Value ◽  
Fish Analysis ◽  
Histologic Diagnosis ◽  
Typical Carcinoid ◽  
Cell Lung Carcinoma ◽  
Abnormal Cells ◽  
Low Sensitivity

Background: Bronchial brush (BB) cytology carries low sensitivity for detecting neuroendocrine carcinomas (NECs), including typical carcinoid (TC) tumors of the lung. We aimed to investigate the detection of neuroendocrine tumors including TC through BB routine cytology cell block (CB), immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH). Materials and Methods: A SNOMED search showed 187 lung biopsy or resection specimens from 2008 through 2011 containing neuroendocrine or carcinoid in the diagnosis. Residual BB specimens retained in PreservCyt were used to prepare a ThinPrep slide for FISH analysis. CBs were stained with H and E and IHC for chromogranin and synaptophysin. Results: Of the 187 cases, 16 had residual BB material available within 1 year of diagnosis and were used in CB preparation for IHC and FISH slides. Cytologic evaluation determined 1 case positive for malignancy (small cell lung carcinoma [SCLC]), 1 suspicious for adenocarcinoma, and 14 negative for malignancy. On the basis of histologic diagnosis, FISH was performed. SCLC showed polysomy (86% abnormal cells); 2 TC tumors showed a gain of 7p12 (15% abnormal cells) and a gain of 5q15 (72% abnormal cells), respectively. Two cases had CBs with positive immunoreactivity for chromogranin and synaptophysin. The sensitivity for detection of NEC was 18.8%, 15.4%, and 25% for cytologic evaluation, CB, and FISH, respectively. Conclusion: Neuroendocrine tumors, including TC are difficult to detect with BB cytologic evaluation, most likely because tumor cells lack in the specimen. Assessment of further studies is needed to explore the role of cytology and ancillary methods for detection of these tumors.

The Added Value of Graphical Input and Display for Electron Lens Design

1990 ◽  
Vol 48 (1) ◽  
pp. 190-191
Author(s):  
B. Lencova ◽  
G. Wisselink
Keyword(s):  
Flux Density ◽  
Numerical Data ◽  
Added Value ◽  
Lens Design ◽  
Step Size ◽  
Magnetic Lens ◽  
Flux Lines ◽  
Fine Mesh ◽  
Electron Lens ◽  
User Friendly

Recent progress in computer technology enables the calculation of lens fields and focal properties on commonly available computers such as IBM ATs. If we add to this the use of graphics, we greatly increase the applicability of design programs for electron lenses. Most programs for field computation are based on the finite element method (FEM). They are written in Fortran 77, so that they are easily transferred from PCs to larger machines.The design process has recently been made significantly more user friendly by adding input programs written in Turbo Pascal, which allows a flexible implementation of computer graphics. The input programs have not only menu driven input and modification of numerical data, but also graphics editing of the data. The input programs create files which are subsequently read by the Fortran programs. From the main menu of our magnetic lens design program, further options are chosen by using function keys or numbers. Some options (lens initialization and setting, fine mesh, current densities, etc.) open other menus where computation parameters can be set or numerical data can be entered with the help of a simple line editor. The "draw lens" option enables graphical editing of the mesh - see fig. I. The geometry of the electron lens is specified in terms of coordinates and indices of a coarse quadrilateral mesh. In this mesh, the fine mesh with smoothly changing step size is calculated by an automeshing procedure. The options shown in fig. 1 allow modification of the number of coarse mesh lines, change of coordinates of mesh points or lines, and specification of lens parts. Interactive and graphical modification of the fine mesh can be called from the fine mesh menu. Finally, the lens computation can be called. Our FEM program allows up to 8000 mesh points on an AT computer. Another menu allows the display of computed results stored in output files and graphical display of axial flux density, flux density in magnetic parts, and the flux lines in magnetic lenses - see fig. 2. A series of several lens excitations with user specified or default magnetization curves can be calculated and displayed in one session.

Preliminary Findings on the Use of Session Questionnaires to Improve Clinician-Client Alliance With Special Consideration to Clinical Education

2015 ◽  
Vol 25 (1) ◽  
pp. 50-60
Author(s):  
Anu Subramanian
Keyword(s):  
Graduate Students ◽  
Clinical Education ◽  
Clinical Decision Making ◽  
Rating Scale ◽  
Treatment Effectiveness ◽  
Clinical Decision ◽  
Added Value ◽  
Therapeutic Outcomes ◽  
Specific Feedback ◽  
Stakeholder Perspective

ASHA's focus on evidence-based practice (EBP) includes the family/stakeholder perspective as an important tenet in clinical decision making. The common factors model for treatment effectiveness postulates that clinician-client alliance positively impacts therapeutic outcomes and may be the most important factor for success. One strategy to improve alliance between a client and clinician is the use of outcome questionnaires. In the current study, eight parents of toddlers who attended therapy sessions at a university clinic responded to a session outcome questionnaire that included both rating scale and descriptive questions. Six graduate students completed a survey that included a question about the utility of the questionnaire. Results indicated that the descriptive questions added value and information compared to using only the rating scale. The students were varied in their responses regarding the effectiveness of the questionnaire to increase their comfort with parents. Information gathered from the questionnaire allowed for specific feedback to graduate students to change behaviors and created opportunities for general discussions regarding effective therapy techniques. In addition, the responses generated conversations between the client and clinician focused on clients' concerns. Involving the stakeholder in identifying both effective and ineffective aspects of therapy has advantages for clinical practice and education.

Crisis Reactions and Their Consequences for the Real Sector of the Russian Economy

2011 ◽  
pp. 39-50
Author(s):  
V. Lushin
Keyword(s):  
Financial Crisis ◽  
Acute Phase ◽  
Dutch Disease ◽  
Added Value ◽  
Real Sector ◽  
The Real ◽  
Balanced Development ◽  
Russian Economy ◽  
The Government ◽  
State Modernization

The author analyzes factors that led to a deeper fall in output and profitability in the real sector of the Russian economy in comparison with other segments during the acute phase of the financial crisis. It is argued that some contradictions in the government anti-recession policy, activities of the financial sector and natural monopolies lead to pumping out added value created in manufacturing and agriculture, increase symptoms of the «Dutch disease», etc. It is shown that it may threaten the balanced development of the Russian economy, and a set of measures is suggested to minimize these tendencies and create a basis for the state modernization policy.

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