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Results for “Reference panel”

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At least 649 records · Page 36Linked to original sources

PubMed2003

Single tube multiplex PCR detection of 27 cystic fibrosis mutations and 4 polymorphisms using neonatal blood samples collected on Guthrie cards.

In response to recommendations for cystic fibrosis (CF) carrier screening of the American College of Medical Genetics/American College of Obstetrics and Gynecology (ACMG/ACOG), we evaluated a commercial kit for mutation panel testing (Roche CF Gold Linear Array Panel). This kit tests for 25 CF mutations and 4 polymorphisms; it comprises an analyte specific reagent for single tube multiplex polymerase chain reaction (PCR) amplification and subsequent allele specific oligonucleotide (ASO) hybridization. Neonatal whole blood samples collected on Guthrie card filter paper served as the DNA source. Following a wash step to remove whole blood PCR inhibitors, multiplex PCR amplification could be performed either on DNA that was heat extracted from Guthrie cards or directly on the filter paper matrix itself. In 13 CF patient samples, the CF mutation results obtained with this kit agreed completely with those obtained from a reference laboratory that performs an 87 CF mutation panel. The kit was reliable, despite the small sample size (3 mm diameter punch of the Guthrie card), the presence of PCR inhibitors in whole blood, and protracted storage of blood samples (up to 9 yr at room temperature). The kit was convenient, cost competitive, and practical for use in a small CF screening laboratory.

Alleles↗

PubMed1996

Evaluation of a one-step test for rapid, in practice detection of rotavirus in farm animals.

An immunochromatographic test for the detection of group A rotavirus was evaluated against a reference group A rotavirus ELISA, by using a panel of 161 bovine, porcine and equine faecal samples submitted for routine examination. The sensitivity of the test was 89 per cent and the specificity 99 per cent compared with the ELISA. Its reproducibility was 100 per cent. The simplicity and rapidity of the test procedure make it suitable for use in practice.

Animals↗

PubMed1991

Functional evidence for three distinct and independently inhibitable adhesion activities mediated by the human integrin VLA-4. Correlation with distinct alpha 4 epitopes.

The human integrin VLA (very late activation antigens)-4 (CD49d/CD29), the leukocyte receptor for both the CS-1 region of plasma fibronectin (Fn) and the vascular cell surface adhesion molecule-1 (VCAM-1), also mediates homotypic aggregation upon triggering with specific anti-VLA-4 monoclonal antibody (mAb). Epitope mapping of this integrin on the human B-cell line Ramos, performed with a wide panel of anti-VLA-4 mAb by both cross-competitive cell binding and protease sensitivity assays, revealed the existence of three topographically distinct epitopes on the alpha 4 chain, referred to as epitopes A-C. By testing this panel of anti-VLA-4 mAb for inhibition of cell binding to both a 38-kDa Fn fragment containing CS-1 and to VCAM-1, as well as for induction and inhibition of VLA-4 mediated homotypic cell adhesion, we have found overlapping but different functional properties associated with each epitope. Anti-alpha 4 mAb recognizing epitope B inhibited cell attachment to both Fn and VCAM-1, whereas mAb against epitope A did not block VCAM-1 binding and only partially inhibited binding to Fn. In contrast, mAb directed to epitope C did not affect cell adhesion to either of the two VLA-4 ligands. All mAb directed to site A, as well as a subgroup of mAb recognizing epitope B (called B2), were able to induce cell aggregation, but this effect was not exerted by mAb specific to site C and by a subgroup against epitope B (called B1). Moreover, although anti-epitope C and anti-epitope B1 mAb did not trigger aggregation, those mAb blocked aggregation induced by anti-epitope A or B2 mAb. In addition, anti-epitope A mAb blocked B2-induced aggregation, and conversely, anti-epitope B2 mAb blocked A-induced aggregation. Further evidence for multiple VLA-4 functions is that anti-Fn and anti-VCAM-1 antibodies inhibited binding to Fn or to VCAM-1, respectively, but did not affect VLA-4-mediated aggregation. In summary, we have demonstrated that there are at least three different VLA-4-mediated adhesion functions, we have defined three distinct VLA-4 epitopes, and we have correlated these epitopes with the different functions of VLA-4.

Antibodies, Monoclonal↗

PubMed1993

Antigenic analysis of coxsackievirus B3 with monoclonal antibodies.

All the 16 mouse monoclonal antibodies (McAbs) raised against Nancy strain of coxsackievirus B3, CoxB3(N), were type 3-specific. The reactivity of CoxB3(N) to this McAb panel during the serial passages showed a variation. Three field isolates of CoxB3, all neutralizable with the reference Anti-CoxB3 hyperimmune serum, were checked for the reactivities with the McAb panel. The isolates from the patients in Fujiang reacted with 12 McAbs and variably with the remaining four McAbs. On the basis of the reactivities with different virus strains, the McAbs were found to fall into four groups possibly corresponding to at least four epitopes. A considerable antigenic variation of CoxB3 was thus suggested.

Animals↗

PubMed2000

Agar gel immunodiffusion test for the detection of bovine leukemia virus antibodies: lack of trans-Atlantic standardization.

Two agar gel immunodiffusion (AGID) kits for the serodiagnosis of bovine leukemia virus (BLV) were imported from Europe and were compared with North American kits. The BLV AGID kits from North America and from Europe differed significantly. The punches were different, as were the pattern distribution in the agar of the reference and the test sera, resulting in differences in the reading of the immunoprecipitation lines. Based on the testing of 1200 serum samples from cattle, the European kits gave a good correlation with the American kits, as indicated by their respective kappa values. However, the European kits were found to be less sensitive when evaluated against weakly positive samples from field specimens or following a dilution trial. Only 65% and 50% of the weakly positive samples detected by the American kit #1 were detected by the European kits #2 and #3, respectively. The American kit was also capable of detecting BLV antibodies in 45% of strongly positive samples diluted 1/50 in negative sera, while antibodies were detected in only 15% of the samples with the European kit #2 and in none of the samples with the European kit #3. False negatives were also detected with the European kits. Among the false negatives, the degree of expected reactions was weak (European kit #2) or of varying degrees of positivity (European kit #3). Besides the differences in format and performance, the BLV-AGID kits in Europe are evaluated with the National Standard Serum E4 while a proficiency panel composed of a quadruplicate set of 10 reference sera is used in Canada to monitor the kits. Based on the overall observations, we noted a lack of standardization between the BLV-AGID kits used in North America and in Europe.

Agar↗

PubMed2002

Reinterpretation of radiological imaging in patients referred to a tertiary referral centre with a suspected pancreatic or hepatobiliary malignancy: impact on treatment strategy.

Our objective was to determine the clinical importance of reinterpretation of radiological investigations performed in a referring hospital and the value of additional investigations in a referral centre. A panel of four experts retrospectively evaluated the technical quality of radiological investigations and made reinterpretation reports, of 78 patients referred with a suspected pancreatic or hepatobiliary malignancy. The value of additional radiological investigations performed in the referral centre was assessed. The quality of ultrasound and CT examinations was sufficient for reinterpretation in (36 of 69) 52% and (42 of 60) 70%, respectively. The reinterpretation reports of the ultrasound investigations were scored as "in accordance" in (30 of 36) 83%, as "minor discordance" in (3 of 36) 8% and as "major discordance" in (3 of 36) 8%. For CT proportions of (29 of 42) 69%, (8 of 42) 19% and (5 of 42) 12%, respectively, were found. Additional ultrasound ( n=55) showed no additional findings in 16%, minor additional findings in 53% and major additional findings in 31% of cases. For additional spiral CT scan ( n=47) results were of 21, 47 and, 32%, respectively. Reinterpretation of ultrasound and CT resulted in a change in treatment strategy for 7 patients (9%). Additional ultrasound or CT resulted in a change in treatment strategy for 24 patients (30%). Improved communication and reinterpretation of radiological investigations may reduce unnecessary referral.

Adult↗

PubMed2006

Evaluation of the BD Phoenix automated microbiology system for identification and antimicrobial susceptibility testing of staphylococci and enterococci.

We evaluated the Phoenix automated microbiology system (BD Diagnostic Systems, Sparks, MD) for the identification (ID) and antimicrobial susceptibility testing (AST) of challenge and clinical staphylococci and enterococci recovered from patients in a tertiary-care medical center. In total, 424 isolates were tested: 90 enterococci; 232 Staphylococcus aureus isolates, including 14 vancomycin-intermediate S. aureus isolates; and 102 staphylococci other than S. aureus (non-S. aureus). The Phoenix panels were inoculated according to the manufacturer's instructions. The reference methods for ID comparisons were conventional biochemicals and cell wall fatty acid analysis with the Sherlock microbial identification system (v 3.1; MIDI, Inc. Newark, DE). Agar dilution was the reference AST method. The overall rates of agreement for identification to the genus and the species levels were 99.7% and 99.3%, respectively. All S. aureus isolates and enterococci were correctly identified by the Phoenix panels. For the non-S. aureus staphylococci, there was 98.0% agreement for the ID of 16 different species. The AST results were stratified by organism group. For S. aureus, the categorical agreement (CA) and essential agreement (EA) were 98.2% and 98.8%, respectively. Three of three very major errors (VMEs; 1.7%) were with oxacillin. For non-S. aureus staphylococci, the CA, EA, VME, major errors, and minor error rates were 95.7%, 96.8%, 0.7%, 1.7%, and 2.9%, respectively. The two VMEs were with oxacillin. For the enterococci, there was 100% CA and 99.3% EA. All 36 vancomycin-resistant enterococci were detected by the Phoenix system. The Phoenix system compares favorably to traditional methods for the ID and AST of staphylococci and enterococci.

Anti-Bacterial Agents↗

PubMed2004

Centralized radiation oncologic review of cross-sectional imaging of Hodgkin's disease leads to significant changes in required involved field-results of a quality assurance program of the German Hodgkin Study Group.

PURPOSE: To guarantee the treatment quality of involved-field radiotherapy (IF-RT) of patients in the Hodgkin's disease (HD)10 and HD11 trials of the German Hodgkin Study Group, with 460 participating study centers, a quality assurance program was conducted. It was based on a central prospective radiation oncologic review of all patients' entire diagnostic imaging and clinical findings. An individual RT prescription was provided for every study patient. The purpose of the present investigation was to assess the feasibility of such a procedure and its impact on the final definition of disease extension and patient treatment. METHODS AND MATERIALS: Between 1998 and 2002, 1371 patients were enrolled into the HD10 trial (early-stage disease) and 1570 patients into the HD11 trial (intermediate-stage disease). The HD10 trial tested four cycles of Adriamycin (doxorubicin), bleomycin, vinblastine, and dacarbazine (ABVD) against two cycles of ABVD followed by 20 Gy of IF-RT vs. 30 Gy of IF-RT (four study arms). The HD11 trial compared four cycles of ABVD with four cycles of BEACOPP (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone) baseline followed by 20 Gy IF-RT vs. 30 Gy IF-RT in a four-arm design. All study centers were required to score disease involvement at a total of 34 possible anatomic sites on case report forms and send them, together with all diagnostic imaging, to the RT reference center in Cologne, Germany. Images were reviewed there by a panel of expert radiation oncologists and radiologists and compared with the case report form. Differences between the disease involvement documented by the participating center and the reference center were recorded. Subsequently, an individualized treatment proposal was compiled. Complete sets of documentation were submitted to the reference center for 89% of the patients in both HD10 and HD11. RESULTS: A considerable proportion of involved sites were incorrectly recorded on the corresponding case report form by the participating center. For patients with early-stage HD (HD10), there was a correction of disease involvement in 49% (593 of 1214 patients) and for patients with intermediate-stage HD (HD11) in 67% (936 of 1397 patients). Most discrepancies were seen in the lower mediastinum (23%), infraclavicular (17%), upper cervical (16%), supraclavicular (13%), and pulmonary hilar region (13%). This resulted in a change of disease stage in 41 of those 1,529 patients whose documented disease involvement had to be corrected (2.7%). Ninety-three patients had to be treated in a different protocol, because of changes in stage and risk factors. Owing to incorrect lymph node documentation of the participating centers, the RT treatment volume had to be enlarged in 891 (34%) and reduced in 82 (3%) of 2,611 patients. CONCLUSION: A central prospective review of patient data and consecutive prescription of individual RT treatment volume is feasible within large multicenter trials for HD. Such a procedure has a significant impact on the correctness of stage definition, allocation to treatment groups, and extent of the IF treatment volume.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed2004

A randomized crossover trial of PAPNET for primary cervical screening.

OBJECTIVE: To develop and demonstrate efficient methods to estimate the relative true positive and false positive rates of two cervical screening tests (conventional cytology and PAPNET). METHODS: We designed the study to meet stringent methodologic criteria for comparison of two tests while simultaneously minimizing the numbers requiring reference standard verification. We used a cytology reference standard and also assessed histology when available. For the primary analysis, slides with discordant results around the test threshold (CIN 1) were reviewed by a panel of two cytopathologists, blind to previous results, to establish the reference standard result (reference standard threshold for abnormality CIN2). Where histology was available, a secondary analysis was conducted with the reference standard based on the highest grade lesion (either cytology or histology). RESULTS: Among 21,747 Pap smears, 372 were discordant around the test threshold, requiring verification. In the primary analysis PAPNET detected four more true positives than conventional reading; difference in sensitivity 1.29% (95%CI -5.79 to 8.36%, P=.40). There were two extra false positives using PAPNET; difference in the false positive rate 0.0097% (95%CI -0.122 to 0.142%, P=.47). The results of the combined cytology and histology analysis were similar; difference in true positive rate 0.29% (95%CI -6.76 to 7.34%, P=.50) and difference in false positive rate 0.024% (95%CI -0.098 to 0.15%, P=.39). CONCLUSION: This is an efficient and valid study design where the objective is to examine the comparative accuracy of two tests. The design provides an efficient means of estimating the difference between true positive and false positive detection by the two tests, which often is sufficient information for policy decisions.

Adolescent↗

PubMed1992

Impairment of working memory by neuronal degeneration with NMDA in rat hippocampal CA-1.

Rats were trained on a three-panel runway task prior to injections of N-methyl-D-aspartate (NMDA; 40nmoles/µl/side) into the dorsal hippocampus. One week after the treatment, animals did not show any change in the number of errors on the first runway trial (reference memory), with one correct white and two incorrect black panels at each choice point, whereas they showed a marked increase in the number of errors on the following (2nd-6th) trials (working memory) with all black panels. The memory deficit persisted at least for 10 days. After the experiments, histological studies showed neuronal degeneration of hippocampal CA-1 pyramidal cells in all NMDA-treated rats but not in vehicle-treated rats. Pretreatment with the NMDA receptor antagonist MK-801 (3 or 10mg/kg, i.p) before the NMDA injections protected both the neuronal degeneration and the memory deficit. These findings suggest that selective neuronal degeneration induced by excessive stimulation of NMDA receptors in hippocampal CA-1 impaired working memory, but not reference memory.

Journal Article↗

PubMed2026

Double heterozygous germline pathogenic variants in patients referred to a tertiary cancer genetics clinic in Singapore.

BACKGROUND: The increasing use of multigene panel testing has led to a rise in the identification of double heterozygous (DH) pathogenic variants in cancer patients, although their frequency and clinical relevance remain poorly characterised, particularly in Asian populations. METHODS: We conducted a retrospective review of 5,178 patients referred to a tertiary cancer genetics clinic in Singapore. DH pathogenic variants were defined as the presence of two or more distinct pathogenic or likely pathogenic germline variants identified by multigene panel testing. Clinical, pathological, and family history data were reviewed and analysed using appropriate non-parametric and exact statistical methods. RESULTS: Among 2,802 index patients with available genetic test results, 593 (21.2%) carried at least one pathogenic/likely pathogenic variant. DH pathogenic variants were identified in 21 individuals (0.75%), of which 9 were patients with breast cancer, 10 with non-breast malignancies, and 2 were cancer-free. The frequency of multiple primary cancers was 26.3% in DH variant carriers, 23.3% in single variant carriers, and 16.5% in those with no pathogenic variants. The median ages of first cancer diagnosis were 47, 44, and 48 years. Several DH combinations involved moderate- or low-penetrance genes, and some clinically unsuspected variants were detected only through broad multigene testing. CONCLUSION: DH pathogenic variants represent a rare subgroup that is increasingly detected through multigene panel testing. Their phenotypic expression is variable, and the influence of additional pathogenic variants remains uncertain. Our findings emphasise the need for tailored genetic evaluation and further research to guide evidence-based management for this complex patient population.

Asia↗

PubMed1997

Should all cardiac patients be offered the choice of cardiac rehabilitation?

OBJECTIVE: To determine whether cardiac rehabilitation services are beneficial to patients and cost-effective. DESIGN: Several recent publications are reviewed. The first of these, 'Cardiac Rehabilitation. Clinical Practice Guideline No. 17', is itself a review of original published research: 900 scientific reports were examined by a multidisciplinary panel and 334 of these were considered to be of sufficient scientific merit to be used as the references for the guideline. The other publications discussed are: The American Heart Association Consensus Panel Statement, 'Preventing heart attack and death in patients with coronary disease', the American College of Cardiology's recommendations on 'Matching the intensity of risk factor management with the hazard for coronary disease events' and Recommendations of the Task Force of the European Society of Cardiology, the European Atherosclerosis Society and European Society of Hypertension, 'Prevention of coronary heart disease in clinical practice'. RESULTS: Cardiac rehabilitation brought about substantial benefits in risk factor profiles, including improvement in exercise tolerance, blood lipids, psychosocial well-being, and reduction in cigarette smoking and stress levels. In addition there was well-documented proof of improvement of pathophysiological measures, such as relief of symptoms, less progression and greater regression of disease and a reduction in mortality. As an intervention, cardiac rehabilitation was shown to be as cost-effective as many pharmacological regimens and surgical interventions. CONCLUSIONS: The evidence in support of cardiac rehabilitation is so overwhelming that all patients should be educated about this form of treatment and have the ultimate choice of accepting or rejecting it.

Cardiac Rehabilitation↗

PubMed1994

Sensitivity of HIV-antibody assays determined by seroconversion panels.

OBJECTIVES: To determine the sensitivity of HIV-antibody assays for detecting low levels of HIV antibody using seroconversion and other panels containing plasma of varying titres. METHODS: Eight HIV-antibody assays, available under the World Health Organization bulk-procurement agreement, were evaluated on sets of sequential plasma samples derived from 11 individuals who had recently become HIV-infected (seroconversion panels). In addition, two non-seroconversion panels, consisting of low performance (titre) and mixed titre samples were used to further define the sensitivity of the assays. The eight assays included two rapid tests, one simple test, and five enzyme-linked immunosorbent assays (ELISA). RESULTS: On average, the eight assays detected antibody 0.5-4.8 days later than the reference test (Abbott HIV-1/HIV-2 3rd generation ELISA); these differences were statistically significant for six of the eight tests. All tests performed well on the low performance and mixed titre panels. All eight assays also had comparable sensitivity to that of the reference test on a large panel of known positive plasma. The additional risk of missing an infectious unit of blood during seroconversion by using the least sensitive rather than the reference test was estimated to be 1 in 7600 and 1 in 76 million at annual HIV incidence rates of 1 and 0.0001%, respectively. The cost of eliminating this additional risk by using the reference test is between US$ 15,150 and 151 million per unit detected at the above incidence rates. CONCLUSIONS: Although there are differences in sensitivity between the assays when used to test blood from individuals during the course of seroconversion, the differences are small, and all eight tests are appropriate for use as screening tests.

AIDS Serodiagnosis↗

PubMed2004

Utility of Interphase FISH Panels for Routine Clinical Cytogenetic Evaluation of Chronic Lymphocytic Leukemia and Multiple Myeloma.

Specific genetic abnormalities are of prognostic significance for patients with chronic lymphocytic leukemia (CLL) and multiple myeloma (MM); however, routine cytogenetic analysis usually provides normal results. We utilized two probe panels for interphase fluorescence in situ hybridization (FISH) studies to enhance the ability to detect genetic abnormalities in samples that were referred for routine cytogenetic studies for possible diagnoses of CLL or MM. The CLL panel consisted of probes for 11q22.3 (ATM gene), 13q14 (D13S319), the centromere of chromosome 12 (D12Z3) and 17p13.1 (P53 gene). The MM panel included probes for 14q32 (IgH gene) and/or t(11:14)(q13;q32) (BCL1/IgH), 13q14 (D13S319) and 17p13.1 (P53 gene). FISH detected clonal aberrations not identified by conventional cytogenetics in an additional 8 of 23 (35%) samples referred for possible CLL and 7 of 42 (17%) samples with possible MM. The prognostic significance of the aberrations identified ranged from favorable, to intermediate, to poor. Our studies indicate that many samples referred for routine cytogenetics testing for CLL and MM yield normal results for both conventional and FISH testing, likely due to lack of definitive diagnosis in a percentage of cases. However, FISH is more sensitive for the detection of clinically significant chromosome abnormalities and should be the testing methodology of choice for these disorders.

Journal Article↗

PubMed2000

Blinded, multicenter quality control study for the quantification of human immunodeficiency virus type 1 RNA in plasma by the Belgian AIDS reference laboratories.

OBJECTIVE: In order to evaluate the interlaboratory variation of HIV-1 RNA measurements in plasma, the Belgian AIDS reference laboratories organized a blinded multicenter quality control study. METHODS: Atest panel of coded spiked HIV-1 plasma samples reflecting the dynamic range of the assay was composed and distributed. The HIV-1 RNA concentration of these samples was determined by the eight Belgian AIDS reference laboratories by means of the Amplicor HIV-1 Monitor version 1.5 assay. RESULTS: Analysis of the results demonstrated that there was little interlaboratory variation for the high concentration range (4.0-5.7 log10 copies/mL), never exceeding 0.2 log10 copies/mL. However the standard deviation for the low concentration range (2.6-3.9 log10 copies/mL) reached up to 0.22 log10 copies/mL. CONCLUSIONS: Since interlaboratory variability never reached 0.5 log10 copies/mL and each of the laboratories was able to detect four-fold differences in plasma HIV-1 RNA levels, the Amplicor assay can be used in multicenter studies without a centralized analysis of samples. Furthermore, this well-characterized proficiency panel of spiked plasma samples could be used as a standard in the study of interassay comparisons.

Belgium↗

PubMed2005

A rhesus macaque radiation hybrid map and comparative analysis with the human genome.

The genomes of nonhuman primates are powerful references for better understanding the recent evolution of the human genome. Here we compare the order of 802 genomic markers mapped in a rhesus macaque (Macaca mulatta) radiation hybrid panel with the human genome, allowing for nearly complete cross-reference to the human genome at an average resolution of 3.5 Mb. At least 23 large-scale chromosomal rearrangements, mostly inversions, are needed to explain the changes in marker order between human and macaque. Analysis of the breakpoints flanking inverted chromosomal segments and estimation of their duplication divergence dates provide additional evidence implicating segmental duplications as a major mechanism of chromosomal rearrangement in recent primate evolution.

Animals↗

PubMed2004

The evolution of the reference value concept.

This manuscript reviews the introduction of the concept of reference values, the corresponding philosophy, and subsequent recommendations reflecting the different subtopics of the field. The generally unrecognised phenomenon that laboratory results of the population tended to be lognormal instead of Gaussian attracted the attention of the author, who became sceptical of the concept of normal values because of its ambiguity. Together with N.-E. Saris a new concept of reference values was launched at a congress in 1969. Briefly, clinical measurements should be interpreted against values from proper control subjects. Subsequently international, regional and national societies established expert panels which produced recommendations covering the general principles and terminology of reference values, the concept of health, standardised specimen collection and preanalytical factors, statistical treatment of collected values, stratification of data, relating observed (patient) values to reference values, etc. The importance of using correct terminology, taking into consideration the aim of ordering the laboratory test and some neglected procedures (e.g., survival values) are emphasised. New developments such as reference changes are mentioned. The field has evolved largely as the result of constructive international teamwork.

Chemistry, Clinical↗

PubMed1996

Early identification of Alzheimer's disease and related dementias. Agency for Health Care Policy and Research.

This Quick Reference Guide for Clinicians contains highlights from Recognition and Initial Assessment of Alzheimer's Disease and Related Dementias, Clinical Practice Guideline No. 19, which was developed by a multidisciplinary panel composed of health care professionals and consumer representatives. The Quick Reference Guide focuses on (1) symptoms that suggest the presence of a dementing disorder and (2) steps to follow in conducting an initial assessment for Alzheimer's disease or a related dementia, including use of specific mental and functional status tests on the basis of their efficacy and clinical utility in discriminating early-stage dementia. It also addresses how to interpret test results, the role of neuropsychological testing, and resources for patients and families facing a diagnosis of probable dementia.

Aged↗