Abstract:
BACKGROUND:The gene that causes most cases of hereditary hemochromatosis is designated HFE. Individuals with mutations in the HFE gene may have increased serum iron, transferrin saturation, and ferritin concentrations relative to individuals with the wild-type genotype. METHODS:We generated reference centiles for percentage of transferrin saturation and serum ferritin concentrations in normal (wild-type), healthy Caucasian adults. We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D. RESULTS:Serum ferritin concentrations, but not percentage of transferrin saturation, in normal, healthy women tended to increase sharply as they progressed through menopause. Transferrin and serum ferritin centiles for normal, healthy females were lower than the corresponding centiles in normal, healthy males. C282Y homozygotes had abnormally high transferrin saturation and serum ferritin values relative to the wild types. Compound heterozygotes appeared to be a mixture of individuals with unexceptional transferrin and ferritin values and those with abnormally large values similar to the homozygotes, with equal proportions of each. CONCLUSIONS:There are age- and sex-related differences in reference centiles for the percentage of transferrin saturation and serum ferritin concentrations in normal, healthy adults. Individuals homozygous for the C282Y mutation in the HFE gene have abnormal transferrin saturation and serum ferritin values relative to the reference population; penetrance with the compound heterozygotes, as reflected by abnormal transferrin and ferritin values, is less than with the homozygotes.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Koziol JA,Ho NJ,Felitti VJ,Beutler Esubject
Has Abstractpub_date
2001-10-01 00:00:00pages
1804-10issue
10eissn
0009-9147issn
1530-8561journal_volume
47pub_type
杂志文章abstract:BACKGROUND:There is extended urinary excretion of Δ(9)-tetrahydrocannabinol (THC), 11-hydroxy-THC (11-OH-THC), and 11-nor-9-carboxy-THC (THCCOOH) in abstinent frequent cannabis smokers. We characterized THC, 11-OH-THC, THCCOOH, cannabidiol, cannabinol, THC-glucuronide, and THCCOOH-glucuronide disposition in urine of fr...
journal_title:Clinical chemistry
pub_type: 临床试验,杂志文章
doi:10.1373/clinchem.2013.214106
更新日期:2014-02-01 00:00:00
abstract::We report here the evaluation of the Abbott TDx assay with a monoclonal antibody for selectively quantifying cyclosporine (CsA) in whole blood. Over the clinically relevant concentration ranges, results with this assay demonstrated within- and between-run CVs of less than 2.5% and 5%, respectively; sensitivity of 25 m...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1990-11-01 00:00:00
abstract::The Arg-to-Trp substitution at codon 3500 in the apolipoprotein (apo) B-100 gene is established as a cause of familial defective apo B-100 (FDB), a functional mutation, resulting in reduced LDL receptor binding and manifest hypercholesterolemia. In a search for similar mutations in 163 Malaysians, we screened the puta...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND:Total prostate-specific antigen (tPSA) is flawed for prostate cancer (PCa) detection. [-2]proprostate-specific antigen (p2PSA), a molecular isoform of free PSA (fPSA), shows higher specificity compared with tPSA or percentage of free PSA (%fPSA). The prostate health index (Phi), a measure based on p2PSA and ...
journal_title:Clinical chemistry
pub_type: 杂志文章,多中心研究
doi:10.1373/clinchem.2012.195784
更新日期:2013-01-01 00:00:00
abstract::Measurement of alpha-fetoprotein concentration and acetylcholinesterase activity in amniotic fluid can be used to identify chromosomal defects as well as neural tube defects. In seven cases of trisomy 21 and one case of partial trisomy 3, alpha-fetoprotein concentrations were below the reference range but values for a...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-04-01 00:00:00
abstract::We have used a monoclonal antibody-based ELISA for plasma prothrombin fragment 1.2 (F1.2) to establish appropriate sample collection and storage conditions for this biomarker of thrombin generation. F1.2 concentrations were not altered by exogenous factor Xa, thrombin, or thromboplastin if blood was collected by routi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
abstract::We measured serum protein and calcium concentrations in 2340 individuals between 10 and 96 years of age from 900 families chosen by probability methods to give a representative population. These values were used to calculate an index, based on a regression analysis of serum protein on calcium, which was then treated a...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1976-10-01 00:00:00
abstract::We adapted an inhibition assay for methotrexate, involving dihydrofolate reductase from bovine liver, for use with a discrete analyzer (the ABA-100). The analyzer was used both for dilution and a 5-min pre-incubation of the sample with NADPH--enzyme reagent, and for the assay itself. The standard curve was linear betw...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-02-01 00:00:00
abstract::We studied the specificity of kinetic methods of analysis, with emphasis on creatinine determination. The error contributed by an interferent that reacts with the analytical reagent and absorbs at the wavelength of analysis is shown to be related to the ratio of the equilibrium absorbances of the analyte and interfere...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-04-01 00:00:00
abstract::A new sandwich-type enzyme-linked immunosorbent assay for quantifying glycocalicin, a proteolytic fragment of platelet membrane glycoprotein Ib, is described. The assay is based on the use of two monoclonal antibodies raised against glycoprotein Ib and involves the avidin-biotin technique. The detection limit is 7 mic...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1991-02-01 00:00:00
abstract::Two-dimensional electroimmunodiffusion is rarely used in clinical chemistry, because its potentialities are not yet widely appreciated. Studying mouse anaphylaxis, we observed with this technique certain striking short- and long-term pathologic changes in several important serum antigens, which aptly demonstrate its u...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract::This solid-phase competitive europium immunoassay of progesterone in plasma relies on antigen labeling. With this new approach, time-resolved fluoroimmunoassay can attain sensitivity and precision similar to that of conventional radioimmunoassay. The europium-labeling involves coupling diethylenetriaminepentaacetic ac...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-03-01 00:00:00
abstract::We describe the measurement of rheumatoid factor in human sera with a rate nephelometer. The National Reference Preparation for Rheumatoid Factors is used to calibrate the assay in International Units. We used Hyland Positive Control, Level I, as a secondary standard. The standard curve is exponential, but is linear w...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract:BACKGROUND:The B-type natriuretic peptides (BNP and N-terminal pro-BNP) are secreted by the heart and, in the case of BNP, serve to maintain circulatory homeostasis through renal and vascular actions and oppose many effects of the renin-angiotensin system. Recent evidence suggests that in patients with severe heart fai...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2013.210435
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND:The association between increases in cardiac troponin and adverse cardiac outcomes is well established. There is a growing interest in exploring routine cardiac troponin monitoring as a potential early indicator of adverse heart health trends. Prognostic use of cardiac troponin measurements requires an assay...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2015.242081
更新日期:2015-10-01 00:00:00
abstract::In this clinically useful enzyme immunoassay of digoxin in serum, we mix sample, beta-galactosidase-labeled digoxin, and anti-digoxin Fab fragments for 30 min at room temperature, then use Sepharose-bound second antibody for phase separation, and measure the unbound enzyme activity directly in the supernate of the equ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::Currently, we can make the following generalizations about the major long-term complications of diabetes. First, they occur commonly after 10 to 15 years of diabetes. Second, the complications of renal and retinal disease, but not of atherogenic and neurological disease, appear to be related to the severity of hypergl...
journal_title:Clinical chemistry
pub_type: 临床试验,杂志文章,评审
doi:
更新日期:1986-10-01 00:00:00
abstract::Erythromycin, phenazopyridine, methenamine mandelate, acetazolamide, and ascorbic acid reportedly interfere with the Porter-Silber reaction in the determination of urinary 17-hydroxycorticosteroids. Sodium bisulfite, added to the urine after hydrolysis with glucuronidase, removed almost all nonsteroidal interferences ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract::We studied the effect of lyophilization of serum pools on the determination of cholesterol with the enzymatic methods used in five automated analyzers: SMAC (Technicon), the RA-1000 (Technicon), the aca (Du Pont), the TDx (Abbott), and the Ektachem 700P (Kodak). We prepared two serum pools: pool A (2.2 g/L) and pool B...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract::Noninvasive monitoring of blood/tissue glucose concentrations has been successfully accomplished in individual diabetic subjects by using near-infrared (NIR) spectroscopy coupled with chemometric methods. Three different spectrometer configurations were tested: a) a Fourier-transform infrared spectrometer with an indi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1992-09-01 00:00:00
abstract:BACKGROUND:National Cholesterol Education Program (NCEP) guidelines recommend development of direct assays for LDL cholesterol (LDL-C) measurement, but it is unclear how these assays compare with Friedewald calculation in predicting cardiovascular disease (CVD). METHODS:In a study of 27 331 healthy women with triglyce...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.117929
更新日期:2009-05-01 00:00:00
abstract::Major discoveries have been made in the past few years on the structure and mode of biosynthesis of serum albumin. The complete amino acid sequence of this protein has been determined, and its covalent structure shown to be a single peptide chain grouped into a series of nine disulfide-bonded loops. These loops appear...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1977-01-01 00:00:00
abstract:BACKGROUND:C-reactive protein (CRP), the prototypic marker of inflammation, is present in atherosclerotic plaques and appears to promote atherogenesis. Also, CRP has been localized to monocytes and tissue macrophages, which are present in the necrotic core of lesions prone to plaque rupture. Leukocyte-derived myelopero...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.109207
更新日期:2009-02-01 00:00:00
abstract:BACKGROUND:Direct equilibrium dialysis and direct ultrafiltration free thyroxine (T(4)) assays rely on semipermeable membranes to exclude T(4)-binding serum proteins from dialysates and ultrafiltrates. The presence of these proteins in dialysates or ultrafiltrates will yield spuriously high free T(4) values when free T...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2007.085316
更新日期:2007-05-01 00:00:00
abstract::Determination of the MB isoenzyme of creatine kinase in patients with acute myocardial infarction may be disturbed by the presence of macro creatine kinase. The relative molecular mass of this form of creatine kinase in human serum is at least threefold that of the ordinary enzyme, and it is more thermostable. Here we...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND:Standardization of clinical measurements of C-reactive protein (CRP) is based on the availability of reference materials. The serum protein reference material ERM-DA470 was used as a calibrant for various commercially available immunoassays but has now been exhausted. The recently released ERM-DA470k/IFCC wa...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2010.147124
更新日期:2010-09-01 00:00:00
abstract::Four routine assays commonly used for monitoring plasma methotrexate (MTX) during high-dose therapy were validated by HPLC as the comparison method. MTX and its main metabolite, 7-hydroxymethotrexate (7-OHMTX), were analyzed by HPLC with postcolumn derivatization and fluorometric detection. About 200 clinical plasma s...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract::We describe an automated (ABA-100) enzymic method for determination of urinary oxalate by use of oxalate oxidase (EC 1.2.3.4) isolated from beet stems. The H2O2 produced by the oxidation of oxalate by oxalate oxidase is measured by coupling with oxidation and conjugation of 3-methyl-3-benzothiazolinone hydrazone with ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1983-10-01 00:00:00
abstract:BACKGROUND:direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or whole-gene deletions. Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.103721
更新日期:2008-07-01 00:00:00
abstract::Advanced glycosylation end products (AGEs) are thought to play an important role in the development of diabetic complications. Oxidative reactions are essential for the formation of some AGEs, termed glycoxidation products. Increased concentrations of pentosidine, one of such products, are found in tissue and serum in...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00