Abstract:
:Inherited metabolic disorders account for a small but significant number of sudden unexplained deaths in neonates, infants and occasionally older children. In particular, inherited disorders of fatty acid oxidation may closely mimic sudden infant death syndrome. Post-mortem investigations offer the final opportunity to establish a diagnosis. Such diagnoses are of great importance to the families concerned and provide the opportunity for genetic counselling and antenatal diagnosis. Current advances in technology, particularly in the case of electrospray ionization tandem mass spectrometry, have revolutionized the investigation of metabolic disease at post-mortem, facilitating the identification of a wide range of metabolic diseases in tiny samples of blood, plasma and bile. Such analyses may provide vital clues to diagnosis, usually in the form of acylcarnitine profiles. Accurate diagnosis relies on the timely collection of appropriate samples and the subsequent selection of informative testing. In order to maximize the chances of a diagnosis, a collaborative approach between the various disciplines is vital. A brief description of the more frequently encountered inherited disorders, collection and processing of appropriate samples and available investigations that may lead to accurate diagnosis are clearly described.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Olpin SEdoi
10.1258/0004563041201473subject
Has Abstractpub_date
2004-07-01 00:00:00pages
282-93issue
Pt 4eissn
0004-5632issn
1758-1001journal_volume
41pub_type
杂志文章,评审abstract::Mitochondrial acetoacetyl-CoA thiolase deficiency (or beta-ketothiolase deficiency) is a rare metabolic disorder characterized by acute episodes of severe acidosis and ketosis. A case is presented of an 18-month-old boy who presented with vomiting and diarrhoea and was found to be markedly acidotic. When the acidosis ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2008.007202
更新日期:2008-09-01 00:00:00
abstract::In monocytes at the secretory (oestrogen-progesterone dominant) phase of the menstrual cycle, expression of c-fms and macrophage colony-stimulating factor (M-CSF) receptor and activity of tyrosine kinase (TK) were increased by oestradiol with or without progesterone. In vivo, oestrogen may induce expression of c-fms a...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329503200408
更新日期:1995-07-01 00:00:00
abstract::Many attempt are now being made by external agencies to assess the quality of assay performance in hormone laboratories. Some of the problems associated with this are discussed and some remedies are proposed. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328101800101
更新日期:1981-01-01 00:00:00
abstract:BACKGROUND:Pregnancy represents a major risk factor for deep vein thrombosis (DVT). Most coagulation/fibrinolysis markers currently utilized change during pregnancy, and therefore they cannot accurately evaluate thrombotic events in pregnancy because the rate of false positive results is high. Fibrin monomer complex (F...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307781646076
更新日期:2007-09-01 00:00:00
abstract::In a group of 121 adult patients with end-stage chronic renal failure who had been undergoing maintenance haemodialysis for up to 10 years a number of biochemical variables have been measured and related to a set of objective radiological changes in the same patients. The changes in plasma calcium, magnesium, phosphat...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327501200126
更新日期:1975-05-01 00:00:00
abstract::Whole blood and washed erythrocytes from nutritionally normal and abnormal elderly patients were stored at room temperature, 4 degrees C and -20 degrees C for up to 14 days. In both groups, and under all storage conditions, the erythrocyte transketolase (ETK) activity and the thiamine pyrophosphate (TPP) effect decrea...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328502200417
更新日期:1985-07-01 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:BACKGROUND:Potassium is usually the most important analyte affected by in vitro haemolysis and the result obtained may falsely indicate or disguise a life-threatening abnormality and so give rise to inappropriate treatment. The purpose of the study was to provide a solution to the problem of reporting potassium on haem...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563053492739
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Emergency abdominal surgery carries considerable postoperative morbidity and mortality. Hypovolaemia is considered to be a cause of renal hypoperfusion, which is associated with a decreased clearance of serum urea and creatinine. This study examines whether the perioperative serum urea and creatinine concent...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456306777695717
更新日期:2006-07-01 00:00:00
abstract::The aim of this study was to assess the performance of a commercially available procedure for detecting anti-Sjögren's syndrome A (anti-SSA) and anti-Sjögren's syndrome B (anti-SSB) antibodies by immunoblotting (IB) and compare it with double immunodiffusion (DID). We also studied the clinical significance of these pr...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329903600310
更新日期:1999-05-01 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::Background Proglucagon-derived hormones represent a family of peptides mainly produced in the pancreas and the intestine. While several proglucagon-derived peptides play key roles in metabolic diseases, little is known about glicentin. The aim of the present study was to investigate serum glicentin concentrations in i...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563217700172
更新日期:2018-03-01 00:00:00
abstract::Direct assays have been described for the estimation of progesterone in serum and saliva. Both methods showed good inter-assay precision over a year, and the serum assay is now being used routinely in clinical laboratories. A highly significant correlation was obtained for progesterone concentrations in matched serum ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328502200605
更新日期:1985-11-01 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:OBJECTIVE:The menstrual cycle-related changes in clinical laboratory values were analysed by use of data obtained in the Asian multicentre study aimed at derivation of common reference intervals for 85 major clinical laboratory tests. METHODS:Among 1876 healthy female volunteers, 893 had regular menstruation. They wer...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563215617212
更新日期:2016-05-01 00:00:00
abstract::Background For the early identification of patients at risk of developing diabetic nephropathy, we have developed an ultrasensitive immune complex transfer enzyme immunoassay to measure adiponectin in urine. Methods We developed immune complex transfer enzyme immunoassay for adiponectin and measured urinary adiponecti...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563217748681
更新日期:2018-09-01 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::The ischaemic lactate-ammonia test is widely used for investigating patients with muscle pain and fatigue. It involves measuring plasma lactate and ammonia produced as a result of forearm exercise under ischaemic conditions in a fasted subject. Its clinical use is to screen patients with muscle complaints for disorder...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/0004563011900786
更新日期:2001-07-01 00:00:00
abstract::Improvement in the control of diabetic patients is aided by a knowledge of blood glucose levels during a 'normal' (non-hospitalised) day. We have devised a 5 microliter capillary tube collection system as a 'kit' for home use by diabetics. Blood collected into 5 microliter capillary tubes is washed into a protein prec...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328101800507
更新日期:1981-09-01 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::An automated method for the determination of N-acetyl-beta-D-glucosaminidase in serum or plasma using p-nitrophenol (pNP) N-acetyl-beta-D-glucosamine as substrate and a Pye Unicam AURA system is described. Normal samples had activities of 853 +/- 146 (SD) nmol pNP liberated/ml/h, with intra-assay coefficient of variat...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328201900305
更新日期:1982-05-01 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:Apolipoprotein concentrations in reflex tears from healthy and noninsulin-dependent diabetes mellitus (NIDDM) subjects were measured and correlated with the stage of diabetic retinopathy. METHODS AND RESULTS:The apolipoprotein A-I (apo A-I) concentrations in the tears from NIDDM patients with retinopathy we...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563021901748
更新日期:2002-01-01 00:00:00
abstract::We hereby describe the rare case of a 59-year-old patient presenting with marked hyperamylasaemia mimicking acute pancreatitis upon admission. Investigation of co-existent hypokalemia revealed the presence of ectopic adrenocorticotropic hormone secretion, leading to the final diagnosis of small cell lung cancer, exhib...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563213500658
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Calculated globulin fraction is derived from the liver function tests by subtracting albumin from the total protein. Since immunoglobulins comprise the largest component of the serum globulin concentration, increased or decreased calculated globulins and may identify patients with hypogammaglobulinaemia or h...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563221989737
更新日期:2021-01-11 00:00:00
abstract:BACKGROUND:We found a unique cholesteryl ester transfer protein (CETP) deficient case with markedly elevated serum triglyceride (TG) as well as high-density lipoprotein cholesterol (HDL-C) levels. Most of the CETP deficiency cases were reported to have normal or reduced serum TG with elevated HDL-C. METHODS:The case s...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2009.008249
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Abundant evidence indicate the increased levels of oxidative stress in patients with autism. Advanced glycation end products and advanced lipoxidation end products and their precursors play a major role in increased oxidative stress in numerous metabolic and neurologic diseases. Carnosine is a natural dipept...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1177/0004563218796860
更新日期:2019-01-01 00:00:00
abstract::A previously described method for mannitol in urine has been modified and improved. End product inhibition by fructose in the mannitol dehydrogenase method for mannitol has been minimized; the assay is linear over a sample mannitol concentration range of 0-12 mmol/L; no significant interference from other sugars or su...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329102800416
更新日期:1991-07-01 00:00:00
abstract::Measurement of urine-free (unconjugated) cortisol (UFC) excretion is widely used in the investigation of hypercortisolaemia. We have measured 24 h UFC excretion in normal healthy individuals using a radioimmunoassay (RIA) method claimed to be suitable for unextracted urine. Significantly higher rates of excretion were...
journal_title:Annals of clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1177/000456329403100505
更新日期:1994-09-01 00:00:00
abstract::In the last few years, the use of enzyme labels in immunoassays has been investigated. The aim of this review is to evaluate critically the role of such labels in clinical biochemistry. Special attention has been given to the problems involved in preparing enzyme labels and the ways in which such labels can be used in...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456327901600162
更新日期:1979-09-01 00:00:00