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::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 Point-of-care testing has been developed to provide rapid test results. Most published studies focus on analytical performance, neglecting its impact on patient outcomes. Objective To review the analytical performance and accuracy of point-of-care testing specifically planned for immunoassay and to evaluate...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563217694377
更新日期:2017-07-01 00:00:00
abstract:BACKGROUND:About 10 years ago, a survey showed significant deficiencies in the quality of gastrointestinal investigations performed by UK laboratories. Subsequently, several clinical guidelines have been developed and external quality assessment schemes introduced. This survey was performed to assess whether earlier de...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307780117911
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:The high-dose hook effect is a well-known phenomenon of two-site immunoassays including those for human chorionic gonadotrophin (hCG). We investigated the occurrence of a high-dose hook effect in six routinely available hCG assays using a sample with a total hCG concentration of approximately 3,600,000 IU/L....
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2010.090304
更新日期:2010-07-01 00:00:00
abstract::Many contradictory results have been published on the stability of total non-esterified fatty acids in blood, plasma and serum under different storage conditions. The present study was undertaken to investigate the stability of non-esterified fatty acids, measured with an enzymatic method, in samples of EDTA-treated p...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563011900470
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Recent NICE Guidelines have emphasized the need to have in place by 2007 the capability of offering screening to all women in the first trimester using a combination of maternal age with the ultrasound marker nuchal translucency thickness (NT) and the maternal serum biochemical markers free beta-hCG and preg...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563053026880
更新日期:2005-01-01 00:00:00
abstract::The higher bias of serum cystine estimations by a HPLC method compared with those by ion exchange techniques is shown to be largely due to differences in the sample preparation procedures of the two techniques. The ion exchange methods utilised sulphosalicylic acid serum protein precipitation and post-column ninhydrin...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500516
更新日期:1988-09-01 00:00:00
abstract::Background After adrenalectomy, urinary fractionated metanephrine concentrations are expected to be reduced. However, there are few studies suggesting cut-offs for adrenalectomy patients. Methods Urinary metanephrine and normetanephrine concentrations in adrenalectomy patients and two controls were compared and hormon...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563215620822
更新日期:2017-01-01 00:00:00
abstract::This paper critically examines the usefulness of serum albumin measurement in the light of current laboratory practice and knowledge of the pathophysiology of albumin metabolism. The main conclusions and recommendations are as follows: (i) Albumin measurement forms a limited, but useful part of the investigation of li...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456328702400604
更新日期:1987-11-01 00:00:00
abstract::Digoxin requesting patterns were studied prospectively over a 6-month period. Clinicians were not forewarned that the study was being undertaken. Many samples received in the laboratory were taken at incorrect times after the drug had been given. This led to inappropriate action being taken in some cases. Appropriate ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328702400410
更新日期:1987-07-01 00:00:00
abstract::Iron status is influenced by inflammation when the normal control of iron metabolism is reorganized by the primary mediators of the acute phase response, tumour necrosis factor-alpha and interleukin-1. The objective of this review is to show how indices of iron status, particularly haemoglobin, serum ferritin and solu...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/acb.2007.007167
更新日期:2008-01-01 00:00:00
abstract::Background Red blood cell distribution width (RDW) and neutrophil to lymphocyte ratio (NLR) have been reported to be associated with outcomes of acute cerebral infarction. However, their prognostic value in patients with subarachnoid haemorrhage (SAH) remains largely unknown. The aim of this study was to investigate t...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563216686623
更新日期:2017-11-01 00:00:00
abstract::We have studied 46 patients, 30 men and 16 women, with type 2 (non-insulin-dependent) diabetes in a follow-up period of 6-52 months (mean 30 months). The patients were consecutively entered in the study from the out-patient diabetic clinic. None had urinary tract infections nor proteinuria at entry. Investigations wer...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329703400304
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:Circulating levels of bioavailable oestradiol and testosterone are often desirable for clinical practice or investigational studies of children. However, assays to measure circulating hormone levels might not always be accessible. We sought to validate the empirical calculation of circulating bioavailable te...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1258/acb.2010.009112
更新日期:2010-05-01 00:00:00
abstract::We investigated the contributions made by the entero-insular axis, proinsulin and the fractional hepatic extraction of insulin to the hyperinsulinaemia characteristic of polycystic ovarian syndrome (PCOS). We measured plasma glucose, gastric inhibitory polypeptide (GIP), glucagon-like peptide-1 (7-36 amide) (GLP-1(7-3...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329603300303
更新日期:1996-05-01 00:00:00
abstract:BACKGROUND:We evaluated procalcitonin (PCT) assay in the emergency diagnosis of neonatal bacterial infection, especially in preterm infants, relative to C-reactive protein (CRP) and fibrinogen. METHODS:One hundred and twenty neonates (32 preterm), of whom 21 were infected, were tested. RESULTS:Concentrations of PCT, ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563021901874
更新日期:2002-03-01 00:00:00
abstract::Adverse reactions to foods may arise by a variety of mechanisms, both immune (IgE and non-IgE) and non-immune mediated. This article considers those assays useful in the diagnosis of Type 1 hypersensitivity to foods (IgE-based) and, importantly, discusses those assays where evidence is lacking for their use. In all ca...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/acb.2011.011011
更新日期:2011-07-01 00:00:00
abstract::A simultaneous deterioration in performance of several radioimmunoassays suggested that equipment was malfunctioning. Replicate counts from an automated gamma counter showed unacceptable variation during a 24-hour period; this variation was detected using Trigg's technique, a sensitive method for trend analysis, and w...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327801500126
更新日期:1978-03-01 00:00:00
abstract::The purpose of this study was to assess retrospectively the prevalence of severe hyponatraemia in a hospital population and its laboratory investigation, treatment and clinical outcome. Over a 6-month period 47 patients (27 women and 20 men) were found to have a plasma sodium concentration of < or = 120 mmol/L (this n...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329903600204
更新日期:1999-03-01 00:00:00
abstract::We studied the serum protein binding of 3H-labelled progesterone, oestradiol and testosterone, and five 125I-labelled analogues of these steroids. All tracers investigated appeared to be bound by proteins in every serum sample tested. The addition of blocking agents caused a substantial reduction in serum protein bind...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329503200609
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Current guidelines define acute myocardial infarction (AMI) by the rise and/or fall of cardiac troponin with ≥1 value above the 99th percentile. Past troponin assays have been unreliable at the lower end of the range. Highly sensitive assays have therefore been developed to increase the clinical sensitivity ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2010.010219
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Phlebotomy is a potential cause of preanalytical errors. We have observed phlebotomy in routine practice in a busy Emergency Department, to see how current practice compares with optimal blood sampling. METHODS:Phlebotomy episodes were audited and compared with standard procedures. A computer-based search o...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2011.011099
更新日期:2011-11-01 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:BACKGROUND:Lysophosphatidic acid (LPA) plays important roles in a variety of biological responses, especially in the area of vascular biology, and the determination of its plasma concentration is believed to be important. Several mechanisms are known to be involved in the metabolism of LPA. METHODS:To identify factors...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2008.007242
更新日期:2008-07-01 00:00:00
abstract::Hereditary renal hypouricaemia (HRH) is a genetic disorder commonly associated with exercise-induced acute kidney injury (AKI). We report the case of a 19-year-old man who was admitted to hospital with exercise-induced AKI and who was subsequently shown to have HRH. We believe this to be the first description of a cas...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2012.012017
更新日期:2013-05-01 00:00:00
abstract::The standard colorimetric methods most often used for the measurement of serum unsaturated iron binding capacity (UIBC) are subject to gross interference by iron dextran. This paper describes a brief evaluation of an alternative radiometric assay for serum UIBC, based on a commercially available kit method, but incorp...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500323
更新日期:1988-05-01 00:00:00
abstract::Three characteristics of a sample of AutoAnalyzer Sampler II modules have been measured: eccentricity of the cam, eccentricity of the spindle driving the cam, and the lengths of the chords of the cam lobes. Imprecision in timing may make a significant contribution to analytical error. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327501200135
更新日期:1975-07-01 00:00:00
abstract:BACKGROUND:Measurement of plasma-free metanephrine plus normetanephrine (PFM) is the best screening test for phaeochromocytoma. While clearly raised levels are diagnostic, borderline increases may be associated with factors such as stress and medications, and should prompt a repeat study after interfering factors are w...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2010.010131
更新日期:2010-11-01 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::Serum amyloid A protein (SAA) is a sensitive acute phase reactant. We developed a method for the rapid measurement of human SAA in serum by kinetic nephelometry of anti-SAA antibody-coated latex agglutination. Measurement takes less than 6 min using an automated analyser. Standardization of the assay employs SAA-enric...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329303000112
更新日期:1993-01-01 00:00:00