Abstract：
BACKGROUND:The multiple endocrine neoplasia 2 (MEN 2) syndromes [MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC)] are caused by germline mutations of the RET protooncogene. Because 85% of MEN 2A patients and 30% of FMTC patients have mutations at codon 634, the recommended molecular analyses begin at exon 11, where codon 634 is located. METHODS:We scanned codon 634 of the RET protooncogene with real-time PCR and fluorescence resonance energy transfer (FRET), using a unique pair of internal probes to detect mutations localized at codon 634. We compared results with sequencing results in 66 patients. RESULTS:The method detected all codon 634 mutations available in our laboratory (Cys634Tyr, Cys634Arg, Cys634Phe, Cys634Trp). Comparing this method with the direct sequencing of exon 11 in a cohort of 66 patients with MTC, the system identified all 14 MTC patients carrying germline mutations at codon 634. One apparent false-positive result occurred among 52 patients. CONCLUSIONS:The simultaneous scanning of multiple mutations is possible with the FRET system. The method allows rapid characterization of germline mutations at codon 634 in MTC patients.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Ruiz A,Antiñolo G,Marcos I,Borrego Ssubject
Has Abstractpub_date
2001-11-01 00:00:00pages
1939-44issue
11eissn
0009-9147issn
1530-8561journal_volume
47pub_type
杂志文章abstract：:We have evaluated Fructosamine Test-Plus, a commercial fructosamine assay based on the reduction of nitro-blue tetrazolium dye in alkaline buffer (Clin Chem 1985;31:1550-4), modified by including a detergent and uricase in the reagent, by changing the concentrations of buffer and dye, and by changing the approach to p...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：:We have assessed Calbiochem single-vial enzymatic reagent systems for the analysis for cholesterol and triglycerides, using manual and centrifugal analyzer techniques. Analysis for cholesterol by both techniques had acceptable performance by the short-term criteria of the Center for Disease Control (CDC) during this s...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-11-01 00:00:00
abstract：BACKGROUND:Platelet-derived microparticles (PMPs) are generally considered a marker of platelet activation in cardiovascular disease. We studied the extent to which PMP subpopulations parallel platelet activation in vitro and in vivo. METHODS:Using flow cytometry, we analyzed PMP subpopulations from resting and activa...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：10.1373/clinchem.2005.057414
更新日期：2006-04-01 00:00:00
abstract：BACKGROUND:Whether low plasma 25-hydroxyvitamin D concentrations cause osteoporotic fractures is unclear. We tested the hypothesis that low plasma 25-hydroxyvitamin D concentrations are associated with increased risk of osteoporotic fractures using a Mendelian randomization analysis. METHODS:We genotyped 116 335 rando...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1093/clinchem/hvaa049
更新日期：2020-05-01 00:00:00
abstract：:The metabolism of the synthetic substrate 7-ethoxyresorufin is a selective measure of the activity of cytochrome P-448 monooxygenase, the subset of cytochrome P-450-mediated enzymes preferentially induced by polycyclic aromatic hydrocarbons and related compounds. 7-Ethoxycoumarin metabolism, on the other hand, reflect...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-09-01 00:00:00
abstract：:Detection and characterization of small IgM paraproteins by immunoelectrophoresis are often difficult because of (a) slow diffusion of the macromolecular immunoglobulin, and (b) the obscuring of the light chain, especially kappa, by the light chains of background polyclonal immunoglobulin (the "umbrella effect"). Vari...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-08-01 00:00:00
abstract：:This communication describes and evaluates an improved routine methodology for quantitating clinical proteinuria. Based on investigations of Piscator and of Savory et al., a modified Tsuchiya's reagent (ethanolic HCI-phosphotungstic acid) is used to precipitate proteins at 56 degrees C, followed by biuret spectrophoto...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-03-01 00:00:00
abstract：:Seeking to minimize degradation of NADPH during storage, reagent preparation, and assays, we investigated the effects of pH, temperature, and ionic strength as well as the effects of phosphate and acetate. NADH was also included for comparison. Our results indicate that the rate of degradation of NADPH is proportional...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-02-01 00:00:00
abstract：:Recent evidence indicates that high-density lipoprotein triglyceride (HDL-Tg) may be a predictor of coronary artery disease. We examined three methods for HDL-Tg measurement, comparing results obtained by measurement of Tg in the supernate after heparin-manganese chloride (heparin-Mn) precipitation of EDTA-treated pla...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
abstract：:The serum pancreolauryl test has limited sensitivity for detecting mild pancreatic insufficiency. The aim of this study was to optimize the serum pancreolauryl test so as to increase the probability of positive results in patients with chronic pancreatitis. The study had three parts. First, the sampling time was optim...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：1998-04-01 00:00:00
abstract：:We describe a mass-fragmentographic method for determination in urine of the following metabolites of L-3,4-dihydroxyphenylalanine and dopamine: vanillactic acid, 3,4-dihydroxyphenylacetic acid, 3-methoxy-4-hydroxyphenylethanol, and 3,4-dihydroxyphenylethanol. Deuterated analogs were used as internal standards. The me...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:This time-resolved immunofluorometric assay (IFMA) developed for measurement of placental protein 5 (PP5) involves two antibodies: a monoclonal anti-PP5 antibody attached to a solid phase and an europium(III) chelate-labeled polyclonal anti-PP5 antibody as a tracer. The measuring range is 0.05-100 micrograms/L and the...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-08-01 00:00:00
abstract：:We studied the recently developed Abbott fluorescence polarization immunoassay (FPIA) for amphetamine and methamphetamine in urine and compared the results with those of the Syva enzyme-multiplied immunoassay technique (EMIT) and a gas-chromatographic assay. The FPIA method showed a limit of quantification of 0.3 mg/L...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：:We present a comparative evaluation of two commercial kits, the "Quantitope" and "GammaCoat," for radioimmunoassay of digoxin in serum. These kits, in which iodine-125 is used as a label, proved to suitable for digoxin assay as determined by their reproducibility, sensitivity, precision, and a regression analysis. Hem...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-02-01 00:00:00
abstract：:We measured the rate of elimination of phenylalanine by constant intravenous infusion of L-phenylalanine in 14 parents of children with phenylketonuria and in 21 subjects with a negative family history for this disease. When reciprocals of the observed elimination rates were plotted against the reciprocals of the incr...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-09-01 00:00:00
abstract：BACKGROUND:Endothelial nitric oxide synthase (eNOS) could be a candidate gene for coronary artery disease (CAD). This study investigated the relationship of the eNOS Glu(298)-->Asp and T(786)-->C polymorphisms with the presence and severity of CAD in the Italian population. METHODS:We enrolled 415 unrelated individual...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/49.3.389
更新日期：2003-03-01 00:00:00
abstract：:Investigating the feasibility and validity of determining plasma ferritin concentration in blood obtained by finger prick, we studied 29 adults (ages 21-49 years) and 35 children (ages 14-66 months). Blood was sampled simultaneously in the same subject from both the antecubital vein (venous blood) and by finger pricki...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-05-01 00:00:00
abstract：BACKGROUND:Plasma B-type cardiac natriuretic peptides reflect cardiac structure and function and have proven roles in assisting in the diagnosis of acute heart failure. They are independent prognostic indicators across the full spectrum of cardiovascular disease. Serial changes in plasma B-type cardiac natriuretic pept...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2011.165704
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:Next generation sequencing (NGS)-based assays continue to redefine the field of genetic testing. Owing to the complexity of the data, bioinformatics has become a necessary component in any laboratory implementing a clinical NGS test. CONTENT:The computational components of an NGS-based work flow can be conc...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2014.224360
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Quantitative, miniaturized nucleic acid assays and immunoassays can be developed with single microparticles, microfluorometric detection, and intrinsically fluorescent lanthanide chelates in a multiple assay format to decrease reagent consumption, cost, and assay time. We used recombinant Fab fragments to ca...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：:We studied the pattern of acute-phase proteins (orosomucoid, C-reactive protein, and haptoglobin) in hepatocellular deficiency due to chronic alcohol consumption, characterized by a decrease in serum transferrin concentration. We found that their patterns could vary independently of hepatocellular deficiency, but depe...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：BACKGROUND:Microalbuminuria (MA) is recognized as an important risk factor for cardiovascular and renal complications in diabetes. We sought to evaluate how screening for MA is conducted and how urine albumin (UA) results are interpreted in primary care internationally. METHODS:General practitioners (GPs) received a c...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2007.100917
更新日期：2008-10-01 00:00:00
abstract：:We evaluated a newly developed solid-phase immunoassay (EIA) of terminal deoxynucleotidyl transferase (TdT, EC 2.7.7.3) and compared it with the enzymatic assay of TdT involving DNA polymerase. We assessed the precision, performance characteristics, and clinical efficacy of the EIA procedure, using 249 specimens of pe...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-02-01 00:00:00
abstract：BACKGROUND:We sought to develop a tandem mass spectrometry assay in which the enzymatic activities of 3 lysosomal enzymes (α-glucosidase, α-galactosidase A, and α-l-iduronidase) could be quantified in dried blood spots by using a single assay buffer. METHODS:A 3-mm dried blood spot punch was incubated in a single assa...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2010.152009
更新日期：2010-12-01 00:00:00
abstract：:The objective of this study was to develop a clinical laboratory method for subclass typing of human immunoglobulin G (IgG) paraproteins. Serum proteins were isoelectrically focused (IEF) in a mini-gel and passively blotted by capillary diffusion onto untreated nitrocellulose. Unreacted sites on the nitrocellulose wer...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-03-01 00:00:00
abstract：:We have developed a fully enzymatic method to measure 1,5 anhydro-D-glucitol (1,5-AG) in serum through use of pyranose oxidase (PROD: EC 1.1.3.10), glucokinase (EC 2.7.1.2), and an ATP-regenerating system. In a previous report (Clin Chem 1989;35:2039-43) the glucose interfering with the measurement of 1,5-AG was remov...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-11-01 00:00:00
abstract：:Methods for measuring thyroid autoantibodies--to thyroperoxidase (TPOAb), thyroglobulin (TgAb), and thyrotropin receptor (TRAb)--have improved over the last decade, but increasingly, accurate and sensitive methods are needed for identifying patients with autoimmune thyroid diseases and individuals at high risk for ons...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：1996-01-01 00:00:00
abstract：:The topic of quality control often evokes prolific discussion among those whose business is its administration. Reliable methods for identifying mistakes must be developed in both the manufacture and use of test devices. Unit test devices are uncomplicated to run and provide quick results in a world where speed and si...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：1997-05-01 00:00:00
abstract：BACKGROUND:Screening for heterozygous sequence changes in PCR products, also known as "mutation scanning", is an important tool for genetic research and clinical applications. Conventional methods require a separation step. METHODS:We evaluated the sensitivity and specificity of homogeneous scanning, using a saturatin...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2003.029751
更新日期：2004-10-01 00:00:00
abstract：:We evaluated "borderline" increases in overnight albumin excretion rates (AERs)----i.e., those between the upper 95th percentile of normal (7.6 micrograms/min) and the lowest value currently considered predictive of nephropathy (30 micrograms/min)----to determine their importance and to see whether glucose control inf...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1991-12-01 00:00:00
