Abstract:
:Homocysteine, a sulphur amino acid, is a branch-point intermediate of methionine metabolism. It can be degraded in the transsulphuration pathway to cystathionine, or remethylated to methionine via the remethylation pathway. In both pathways, major genetic defects that cause enzyme deficiencies are associated with very high plasma homocysteine concentrations and excretion of homocystine into the urine. Mildly elevated plasma homocysteine concentrations are thought to be an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. Genetic defects in genes encoding enzymes involved in homocysteine metabolism, or depletion of important cofactors or (co)substrates for those enzymes, including folate, vitamin B(12) and vitamin B(6), may result in elevated plasma homocysteine concentrations. Plasma homocysteine concentrations are also influenced by dietary and lifestyle factors. In the last decade, several studies have been conducted to elucidate the genetic determinants of hyperhomocysteinaemia in patients with cardiovascular disease. We report on both environmental and genetic determinants of hyperhomocysteinaemia and give a detailed overview of all the genetic determinants that have been reported to date.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Lievers KJ,Kluijtmans LA,Blom HJdoi
10.1258/000456303321016169subject
Has Abstractpub_date
2003-01-01 00:00:00pages
46-59issue
Pt 1eissn
0004-5632issn
1758-1001journal_volume
40pub_type
杂志文章,评审abstract::Erythrocyte and fasting plasma magnesium were assayed by a dyebinding colorimetric method using the metallochromic dye, Calmagite, in 51 diabetic Nigerians and 25 controls. Erythrocyte magnesium concentrations were similar in the diabetics and the controls. Fasting plasma magnesium concentrations were significantly lo...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328902600111
更新日期:1989-01-01 00:00:00
abstract::Background Measurement of serum dexamethasone during the overnight dexamethasone-suppression test has been recommended to reduce false-positive results when investigating Cushing's syndrome or increasingly commonly found adrenal incidentalomas. Despite this, there remains a paucity of well-validated dexamethasone meth...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563218766566
更新日期:2018-11-01 00:00:00
abstract::Experience in the use of an in-house urinary free catecholamine assay for the investigation of possible neural crest tumours in a District General Hospital laboratory is described. Elevated excretion of catecholamines and vanillylmandelic acid was found in a number of cases including phaeochromocytoma and neuroblastom...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328702400512
更新日期:1987-09-01 00:00:00
abstract::The effect of acetate and bicarbonate haemodialysis (HD) on the concentrations of erythrocyte, whole-blood and plasma total carnitine (TC), free carnitine (FC), short- (SC) and long-chain acylcarnitine (LC) and acylcarnitine (AC) as well as the ratio of AC to FC was investigated in 30 healthy subjects (15 men and 15 w...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329903600106
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Macroprolactin is a high molecular mass complex of prolactin that may be the cause of elevated serum prolactin as determined by immunoassay. The composition of macroprolactin and its reactivity in immunoassays are variable but the complex has minimal bioactivity in vivo. Hyperprolactinaemia due to unrecogniz...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456306775141830
更新日期:2006-01-01 00:00:00
abstract::Guaiac-based faecal occult blood tests (gFOBT) are still used in asymptomatic population bowel screening programmes but are being replaced by faecal immunochemical tests (FIT) for haemoglobin. gFOBT have many well-documented disadvantages and there is little evidence for their use in assessment of the symptomatic. Man...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/acb.2012.012065
更新日期:2012-11-01 00:00:00
abstract::An investigation into the use of bilirubin oxidase to measure the apparent concentration of unbound bilirubin in solutions of bilirubin or bilirubin/human serum albumin demonstrated (1) near linearity of oxidation rate with bilirubin concentration up to 16 mumol/L, (2) linearity with respect to enzyme concentration up...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500110
更新日期:1988-01-01 00:00:00
abstract::The System 1 produced results for glucose and urea which were precise and accurate. It proved suitable as a general laboratory instrument as it samples 28 mul of specimen, is able to calibrate itself, produces results in three minutes, and has the capacity to analyse 56 samples an hour. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327701400179
更新日期:1977-09-01 00:00:00
abstract::A group of international experts prepared two lists of drugs with their serum/plasma and urine concentrations, which should be used when evaluating the performance of a new laboratory method. The two lists were verified by running in vitro interference studies in three European laboratories on Hitachi instruments. The...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,多中心研究
doi:10.1258/0004563011900696
更新日期:2001-07-01 00:00:00
abstract::A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Du...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2012.011279
更新日期:2012-11-01 00:00:00
abstract::A simple HPLC method for the determination of caffeine and theophylline in plasma is described. Separation of theobromine, paraxanthine, theophylline, beta-hydroxyethyltheophylline and caffeine is obtained using a mobile phase of 1% acetic acid/methanol (83:17, v/v) and a Waters Associates NOVA-PAK C18 column protecte...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328602300410
更新日期:1986-07-01 00:00:00
abstract:BACKGROUND:The pneumatic tube system (PTS) has been implicated in inducing haemolysis. It is not known whether certain sample types are more susceptible to haemolysis than others. We assessed the level of haemolysis in commonly used sample types in the clinical biochemistry department when transported through the PTS. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456304323019631
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:To date, the difference in microRNA expression profiles in tears of dry eye patients and healthy people has not been reported. In current study, we evaluated the significance of microRNAs and transforming growth factor beta2 (TGF-β2) in distinguishing dry eye. METHODS:A total of 138 patients with dry eye fr...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563220961746
更新日期:2020-11-01 00:00:00
abstract::Serum retinol-binding protein (RBP), with a biological half-life of less than 12 h, is a useful indicator of liver or kidney dysfunction. An automated immunoturbidimetric assay for the measurement of RBP has been developed using the Cobas-BIO centrifugal analyser and commercially available materials. Serum samples wit...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500309
更新日期:1988-05-01 00:00:00
abstract:BACKGROUND:It is now established that the bioactive lipid lysophosphatidic acid (LPA) contributes to cancer initiation, progression and metastasis, including those of prostate cancer. LPA is produced in the serum and plasma mainly by conversion from lysophospholipids through the action of lysophospholipase D (lysoPLD),...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307782268147
更新日期:2007-11-01 00:00:00
abstract::We conducted an electrophoretic analysis of monoclonal gamma-globulin found in the serum of a patient with splenic marginal-zone lymphoma. This monoclonal protein showed electrophoretic mobility to the gamma region and reacted with anti-immunoglobulin (IgG) antiserum but not with anti-kappa or anti-lambda light chain ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456306776021490
更新日期:2006-03-01 00:00:00
abstract::We examined the reactivity of human serum albumin-bound bilirubin and its photoisomers as substrates for a direct bilirubin assay using bilirubin oxidase. The reduction of (EZ)-cyclobilirubin reached 100% 5 min after addition of the enzyme at any pH tested (3.5-7.4) in 0.1 mol/L phosphate buffer, whereas the reduction...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456320003700404
更新日期:2000-07-01 00:00:00
abstract::Measurement of urinary free cortisol using the Bayer Automated Chemiluminescent System (ACS:180 PLUS) was evaluated and compared with an in-house extraction radioimmunoassay (RIA). Inter-assay coefficients of variation were acceptable, being respectively 5.3%, 4.8% and 3.8% at 141, 406 and 942 nmol/L (n=20) for the AC...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456320003700414
更新日期:2000-07-01 00:00:00
abstract::A total of 3227 urine specimens were analysed to investigate the applicability of a firefly luciferase assay of microbial adenosine triphosphate (ATP) for the rapid screening of bacteriuria in clinical specimens. Urine sediment, dipslide culture, and three plate cultures were also investigated in the majority of the u...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328201900605
更新日期:1982-11-01 00:00:00
abstract::The application of a DC plasma emission spectrometer to the measurement of copper, zinc and magnesium in serum and urine is reported. Each assay requires only a simple dilution in 1% nitric acid. Comparisons with standard atomic absorption techniques showed good analytical agreement, especially for copper and magnesiu...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328502200512
更新日期:1985-09-01 00:00:00
abstract::Clinical biochemists have long known the analytical and clinical limitations of creatinine and creatinine clearance measurement in the assessment of glomerular filtration rate (GFR). This background is reviewed in the article before assessing the utility of cystatin C, the most promising replacement biochemical marker...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/0004563021901847
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND:In a network of laboratories analytical variability between instruments, even of the same type, may exist for reasons beyond the control of laboratory staff. Controlling variability is a prerequisite for the application of shared reference ranges and for ensuring the transferability of patient test results. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2010.010005
更新日期:2011-03-01 00:00:00
abstract::The measurement of galactose-1-phosphate has been advocated for monitoring galactosaemia. A radioenzymatic method is described in which red-cell haemolysates are incubated with radiolabelled uridine diphospho-glucose and exogenous galactose-1-phosphate uridyl transferase. Labelled glucose-1-phosphate is formed in prop...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328602300313
更新日期:1986-05-01 00:00:00
abstract:BACKGROUND:It is not possible to diagnose acute kidney injury (AKI) in early stages with traditional biomarkers. Kidney injury molecule-1 (KIM-1) is a novel biomarker promising the diagnosis of AKI in early stages. We studied whether urinary and serum KIM-1 (KIM-1 U and KIM-1 S ) concentrations were useful in predictin...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563214528312
更新日期:2015-01-01 00:00:00
abstract::A comparison has been made between three methods for measuring capillary blood glucose collected on filter paper, including a new method using a Beckman glucose analyser 2. The methods are suitable for use with capillary blood spots collected onto filter paper for monitoring the control of diabetic patients. Their acc...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328201900105
更新日期:1982-01-01 00:00:00
abstract::Tiaprofenic acid is a non-steroidal anti-inflammatory drug which also has hypouriceamic effect. Studies involving 10 healthy volunteers were designed to investigate the mode of this effect. We postulate that the site of action of tiaprofenic acid is at the cell membrane, the mechanism being an interference with the tr...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500601
更新日期:1988-11-01 00:00:00
abstract::An automated assay for serum amylase is described. Using the AutoAnalyzer II the method employs, as substrate, a solution of dyed amylopectin which is commercially available (DyAmyl-L). After incubation of serum and substrate at 55 degrees C, 1.0 mol/lKOH is introduced and the coloured products of enzymic hydrolysis a...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327701400190
更新日期:1977-11-01 00:00:00
abstract:BACKGROUND:LC-MS/MS is rapidly becoming the technology of choice for measuring steroid hormones. We have developed a rapid LC-MS/MS assay for the routine analysis of serum cortisol. We have used this assay to investigate the effects of gender and exogenous steroid interference on the immunoassay measurement of serum co...
journal_title:Annals of clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1177/0004563212473448
更新日期:2013-07-01 00:00:00
abstract::Three sensitive assays (Behring, Organon and LKB-Pharmacia) for measurement of serum thyrotropin (TSH) were evaluated. All three assays showed good precision, sensitivity, linearity and for practical purposes negligible high dose hook effects. The correlations between the assays were excellent, but due to standardisat...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328902600609
更新日期:1989-11-01 00:00:00
abstract:BACKGROUND:Adding or incorporating clinical interpretative comments on biochemistry results is widespread in UK laboratories; although this consumes considerable human resource, there is still little evidence to suggest that it is either effective or appreciated by our clinical colleagues. I therefore decided to survey...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2007.007134
更新日期:2008-01-01 00:00:00