Abstract：
BACKGROUND:Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function. We describe our diagnostic procedure and results for 29 patients with mitochondrial disorders. METHODS:Muscle biopsies were from 43 healthy individuals and 29 patients with defects in one of the oxidative phosphorylation (OXPHOS) complexes, the pyruvate dehydrogenase complex (PDHc), or the adenine nucleotide translocator (ANT). Homogenized muscle samples were used to determine the oxidation rates of radiolabeled pyruvate, malate, and succinate in the absence or presence of various acetyl Co-A donors and acceptors, as well as specific inhibitors of tricarboxylic acid cycle or OXPHOS enzymes. We determined the rate of ATP production from oxidation of pyruvate. RESULTS:Each defect in the energy-generating system produced a specific combination of substrate oxidation impairments. PDHc deficiencies decreased substrate oxidation reactions containing pyruvate. Defects in complexes I, III, and IV decreased oxidation of pyruvate plus malate, with normal to mildly diminished oxidation of pyruvate plus carnitine. In complex V defects, pyruvate oxidation improved by addition of carbonyl cyanide 3-chlorophenyl hydrazone, whereas other oxidation rates were decreased. In most patients, ATP production was decreased. CONCLUSION:The proposed method can be successfully applied to the diagnosis of defects in PDHc, OXPHOS complexes, and ANT.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Janssen AJ,Trijbels FJ,Sengers RC,Wintjes LT,Ruitenbeek W,Smeitink JA,Morava E,van Engelen BG,van den Heuvel LP,Rodenburg RJdoi
10.1373/clinchem.2005.062414subject
Has Abstractpub_date
2006-05-01 00:00:00pages
860-71issue
5eissn
0009-9147issn
1530-8561pii
clinchem.2005.062414journal_volume
52pub_type
杂志文章abstract：:We report the adaptation of four radioassays to the prototype of an automated radioimmunoassay system ("Centria," Union Carbide). The system consists of three integrated modules: (a) an automated pipettor, which dispenses samples and reagents; (b) the key module, an incubator/separator, in which centrifugal force is u...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-08-01 00:00:00
abstract：:We divided patients with brain lesions into three groups: (a) patients with primary or metastatic brain cancer, (b) brain infarctions, and (c) brain contusion(s). We analyzed each patient's sera for creatine kinase isoenzyme BB (CK-BB), using a monoclonal antibody kit (Impres-BB; International Immunoassay Laboratories...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：:We measured thyroid hormones and thyroxin-binding proteins in serum from 62 normal lactating and 52 nonlactating women at three months postpartum, and compared these values with those for 42 nonpregnant control women of similar age. Mean thyroxin concentrations in the lactating and nonlactating women were significantl...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：:In this method for separating glycosylated from nonglycosylated hemoglobin in blood by electrophoresis on cellulose acetate membranes, we exploit the affinity of low-molecular-mass dextran sulfate for the nonglycosylated fraction, which increases the mobility of the latter relative to that of glycosylated hemoglobin. ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-02-01 00:00:00
abstract：BACKGROUND:Measurement of hemoglobin A1c (HbA1c) in the blood is integral to and essential for the treatment of patients with diabetes mellitus. HbA1c reflects the mean blood glucose concentration over the preceding 8 to 12 weeks. Although the clinical value of HbA1c was initially limited by large differences in result...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2018.296962
更新日期：2019-07-01 00:00:00
abstract：:This ultrafiltration technique allows determination of free drug in 50 microL of serum. We ultrafiltered sera containing the following drugs--valproic acid (and its major metabolites), phenobarbital, diazepam, indomethacin, phenytoin, furosemide, and chloramphenicol--using both the commercially available micropartitio...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-06-01 00:00:00
abstract：BACKGROUND:A unique requirement for the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is the ability to detect heteroplasmic mtDNA mutations and to distinguish them from homoplasmic sequence variations before further testing (e.g., sequencing) is performed. We evaluated the potential utility of temporal te...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-08-01 00:00:00
abstract：:A gas-chromatographic method for urinary organic acid analysis is described, designed to be used routinely for the diagnosis of organic aciduria. It involves extraction of urine with ethyl acetate, dehydration of extract residues, and trimethylsilylation. Organic acids are identified by using an extensive list of rete...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1980-12-01 00:00:00
abstract：:Iron-depleted donors are at increased risk of developing anemia; if these donors could be identified by a screening test, iron supplementation or decreased donation frequency could be considered. Tests to determine serum ferritin, blood hemoglobin, and erythrocyte (Erc)-zinc protoporphyrin concentrations were examined...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-06-01 00:00:00
abstract：:A triclonal gammopathy is an immunoglobulin abnormality in which three discrete monoclonal subpopulations of immunoglobulin molecules are present in a patient's serum. Monoclonal and biclonal gammopathies have been studied extensively, but relatively little is known about the much rarer triclonal gammopathies. The cas...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：BACKGROUND:Group B streptococcal infections are the leading cause of sepsis and meningitis in newborns. A rapid and reliable method for the detection of this pathogen at the time of delivery is needed for the early treatment of neonates. Isothermal amplification techniques such as recombinase polymerase amplification h...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2013.213504
更新日期：2014-04-01 00:00:00
abstract：:To validate azotemic markers as an index for intradialytic changes in solute concentration, we compared eight solutes (pseudouridine, xanthine, hypoxanthine, peak 4, peak 5, p-hydroxyhippuric acid, indoxyl sulfate, and hippuric acid) with five classical azotemic markers (urea, creatinine, uric acid, phosphate, and pot...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1992-08-01 00:00:00
abstract：BACKGROUND:Blockade of the renin-angiotensin system (RAS) represents a main strategy in the therapy of heart failure with reduced ejection fraction (HFrEF), but the role of active renin concentration (ARC) for guiding therapy in the presence of an RAS blockade remains to be established. This study assessed angiotensin ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2017.278705
更新日期：2018-03-01 00:00:00
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 compared cotinine, carboxyhemoglobin, and thiocyanate concentrations in blood sampled from 187 cigarette smokers and 181 non-smokers. All three differed significantly between smokers and non-smokers. Cotinine performed best as a test for assessing smoking status, with a sensitivity of 98% as compared with 94% for c...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-08-01 00:00:00
abstract：:Numerous outcome measures can be used to characterize and compare the performance of alternative quality-control (QC) strategies. The performance measure traditionally used in the QC planning process is the probability of rejecting an analytical run when a critical out-of-control error condition exists. Another perfor...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1997-04-01 00:00:00
abstract：:This enzyme immunoassay procedure for pregnancy-associated plasma protein type A involves a "sandwich"-type system in microtitration plates. One can detect 0.27 mg of the protein per liter of serum, with a between-batch CV of 10.2%, and the antiserum used does not cross react with any of the other placentally derived ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-11-01 00:00:00
abstract：:We used enzyme immunoassay to measure apolipoprotein B concentration in human plasma. Pure lipoprotein B was isolated from serum samples of fasting normolipidemic subjects by sequential preparative ultracentrifugation and coated to a polystyrene tube surface by adsorption. Human serum samples and rabbit antiserum to h...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
abstract：:In iron deficiency, zinc protoporphyrin (ZPP) is produced instead of heme, and the ZPP concentration in erythrocytes is increased (normal < or = 40 mumol/mol heme). We investigated the relevance of ZPP for staging iron deficiency. ZPP was determined by hematofluorometry in samples from 103 patients. Nineteen patients ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-05-01 00:00:00
abstract：:To secure a successful product in today's era of cost containment, manufacturers and developers of new in vitro diagnostic technologies must consider payment issues--coverage and reimbursement by healthcare insurers--as critical market forces that must be addressed in the business plan. Similar to the regulatory hurdl...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
abstract：BACKGROUND:Band 5 tartrate-resistant acid phosphatase (TrACP; EC 3. 1.3.2) consists of two isoenzymes, bands 5a and 5b, of which band 5b TrACP is considered to be derived from bone. However, no kinetic method for the specific measurement of band 5b TrACP in serum is available. Our aim was to develop a kinetic assay met...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2000-04-01 00:00:00
abstract：:A 56-year-old Samoan man with a documented history of hypertension, who presented with atrial fibrillation and hypotension, quickly developed renal failure with a serum urea nitrogen of 1.370 g/L and a serum creatinine of 92 mg/L. After hydration of the patient, the creatinine value became normal in two days, the urea...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1979-11-01 00:00:00
abstract：BACKGROUND:High-sensitivity C-reactive protein (hsCRP) testing is relatively inexpensive and has been shown to predict the risk of cardiovascular disease (CVD) and diabetes in multiple patient groups, including those treated with statin therapy. JUPITER (Justification for the Use of Statins in Primary Prevention: An In...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2008.109728
更新日期：2009-02-01 00:00:00
abstract：BACKGROUND:Prediction of cyclosporine (CSA) efficacy and toxicity in individual patients is difficult. There is no practical, biologically relevant, pharmacodynamic measure of CSA effect. A major effect of CSA is to decrease interleukin-2 (IL-2) production; however, measurement of this effect in isolated lymphocytes as...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
abstract：:We evaluated a new kinetic assay for alpha-amylase (Phadebas IsoAmylase Test), using modified starch as the substrate and a CentrifiChem 400 centrifugal analyzer system. We determined isoamylase activities by using a selective inhibitor. Results were compared with those obtained with the chromogenic Phadebas dyed-star...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-06-01 00:00:00
abstract：:We investigated two techniques of immunoblotting--the Western blot and the dot blot--for use in detecting prostatic acid phosphatase (PAP, EC 3.1.3.2). We used polyclonal antisera to human PAP, produced in rabbits by hyperimmunization with purified PAP, and PAP-specific monoclonal antibodies in the immunoenzymatic pro...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-10-01 00:00:00
abstract：:Circadian variations of alanine aminopeptidase (EC 3.4.11.2), gamma-glutamyltransferase (EC 2.3.2.2), and N-acetyl-beta-glucosaminidase (EC 3.2.1.30) in urine were studied in 10 healthy children, ages six to 15 years. Urine specimens were collected during 24 h, grouped into four time intervals. Enzymes were measured s...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:I describe the automation/mechanization of several areas of sample processing at SmithKline Beecham Clinical Laboratories. By analyzing and implementing new systems for conveyance and sorting of incoming specimens, specimen processing, within-laboratory specimen delivery, specimen storage and retrieval, and client res...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-09-01 00:00:00
abstract：:We studied the association between gamma-glutamyltransferase (GGT) and apolipoproteins A or B in serum of 42 patients with various hepatobiliary diseases. Binding of the enzyme to apolipoprotein A is not related to a clearly defined disease, but appears to be mainly influenced by the ratio of total cholesterol to GGT ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-08-01 00:00:00
abstract：:Diminished ability to utilize acetate (acetate intolerance) developed in a male patient on chronic hemodialysis after five years of maintenance dialysis. His ability to utilize lactate was also subnormal. We studied acetate metabolism in vitro by isolating lymphocytes from the patient's blood before dialysis and measu...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
