Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I.


BACKGROUND:Patients with Crigler-Najjar syndrome, type I (CNS-I) have an inherited absence of hepatocellular bilirubin uridine diphosphate-glucuronosyltransferase activity, which results in severe unconjugated hyperbilirubinaemia, often causing kernicterus and death in infancy or childhood. METHODS:Our patient is a 19-year-old Japanese man with CNS-I diagnosed by the complete absence of the hepatocellular enzyme in a liver biopsy and genotyping. The efficacies of the removal of protein-bound (PBB) and unbound (UB) unconjugated bilirubin by phototherapy, plasma perfusion and liver transplantation were compared in the patient. RESULTS:At the age of 5 years, phototherapy treatment reduced the patient's PBB by 21% and UB by 34%, and 98% of the bilirubin produced daily was removed. At the age of 16 years, plasma perfusion combined with nightly phototherapy completely removed the daily production of bilirubin; however, by 24 h post-treatment, the PBB and UB were again increased. Apparently, these treatments were effective in reducing PBB and UB, but the effect was only temporary. Following liver transplantation, PBB and UB decreased to normal concentrations. CONCLUSIONS:Liver transplantation as a potential cure should be performed at a younger age, particularly in confirmed CNS-I cases for which reliable effects of phototherapy cannot be guaranteed.


Ann Clin Biochem


Ihara H,Shino Y,Hashizume N,Shimizu N,Aoki T,Yoshida M




Has Abstract


2003-09-01 00:00:00




Pt 5








  • Measurement of copper, zinc and magnesium in serum and urine by DC plasma emission spectrometry.

    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


    authors: Roberts NB,Fairclough D,McLoughlin S,Taylor WH

    更新日期:1985-09-01 00:00:00

  • Revised national guidelines for analysis of cerebrospinal fluid for bilirubin in suspected subarachnoid haemorrhage.

    abstract::It is crucially important to detect subarachnoid haemorrhage (SAH) in all patients in whom it has occurred to select patients for angiography and preventative surgery. A computerized tomography (CT) scan is positive in up to 98% of patients with SAH presenting within 12 h, but is positive in only 50% of those presenti...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Cruickshank A,Auld P,Beetham R,Burrows G,Egner W,Holbrook I,Keir G,Lewis E,Patel D,Watson I,White P,UK NEQAS Specialist Advisory Group for External Quality Assurance of CSF Proteins and Biochemistry.

    更新日期:2008-05-01 00:00:00

  • The effect of potassium EDTA on the stability of parathyroid hormone in whole blood.

    abstract:BACKGROUND:The stability of parathyroid hormone (PTH) in whole blood has not been well characterized. Previous studies show EDTA plasma samples to be more stable than serum samples. METHODS:Blood from 17 haemodialysis patients and five healthy volunteers was collected into serum separator tubes (SSTs) and potassium ED...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: English E,McFarlane I,Taylor KP,Halsall DJ

    更新日期:2007-05-01 00:00:00

  • Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma.

    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


    authors: Morita K,Kawamoto H,Takada H,Nakamura S,Ishii K,Okamoto Y

    更新日期:2006-03-01 00:00:00

  • Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.

    abstract:BACKGROUND AND AIM:Familial hypercholesterolaemia is caused by variants in the low-density lipoprotein cholesterol metabolic pathway involving LDLR, APOB and PCSK9 genes. A national genetic testing service in Wales, UK has observed that no familial hypercholesterolaemia variant is found in almost 80% patients with the ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Ashfield-Watt P,Haralambos K,Edwards R,Townsend D,Gingell R,Wa Li K,Humphries SE,McDowell I

    更新日期:2019-01-01 00:00:00

  • A review of troponin assay performance in Wales: can the same (method-dependent) decision limits be used in different sites?

    abstract::An audit of troponin measurement protocols in use in Wales showed significant variations in practice with no consensus on analytical methods, or in the selection of a decision limit for the diagnosis of myocardial damage. Peer review data on assay imprecision at concentrations approaching the analytical limit of detec...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,多中心研究


    authors: Thomas MA,Singh GK,Williams EJ,McDowell IF,Tovey JA,Wayte AM,All Wales Clinical Biochemistry Audit Group.

    更新日期:2005-09-01 00:00:00

  • EXPRESS: Calculated globulin as a screening tool for hypogammaglobulinaemia or paraproteins in hospitalised patients.

    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


    authors: Hoo T,Lim E,John M,D'Orsogna L,McLean-Tooke A

    更新日期:2021-01-11 00:00:00

  • Natural selection? The evolution of diagnostic criteria for gestational diabetes.

    abstract::Gestational diabetes is a common pregnancy disorder which is generally managed with diet, exercise, metformin or insulin treatment and which usually resolves after delivery of the infant. Identifying and treating gestational diabetes improves maternal and fetal outcomes and allows for health promotion to reduce the mo...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,评审


    authors: Meek CL

    更新日期:2017-01-01 00:00:00

  • High-dose hook effect in six automated human chorionic gonadotrophin assays.

    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


    authors: Al-Mahdili HA,Jones GR

    更新日期:2010-07-01 00:00:00

  • Urinary growth hormone excretion as measured by a sensitive immunochemiluminometric assay.

    abstract::A sensitive immunochemiluminometric assay with a detection limit of 1.1 microU/L was developed for the measurement of urinary growth hormone (UGH). The assay was shown to be specific and precise. There was a good correlation between serum growth hormone (GH) and UGH concentrations in 20 patients with acromegaly and si...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Turner G,Brown RC,Weeks I,Butler GE,Creagh FN,Woodhead JS

    更新日期:1993-03-01 00:00:00

  • Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes.

    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


    authors: Devgun MS,El-Nujumi AM,O'Dowd GJ,Barbu V,Poupon R

    更新日期:2012-11-01 00:00:00

  • Evaluation of the Randox colorimetric serum copper and zinc assays against atomic absorption spectroscopy.

    abstract:BACKGROUND:Analysis of copper and zinc in serum is commonly performed using atomic absorption spectrometry (AAS); however, these methods are often not readily available in smaller laboratories. Randox colorimetric assays for copper and zinc in serum were evaluated on the Thermo Electron Data Pro analyser against flame ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Beckett JM,Hartley TF,Ball MJ

    更新日期:2009-07-01 00:00:00

  • Benchtop mass spectrometry in clinical biochemistry.

    abstract::Mass spectrometry has for many years enabled us to rapidly identify and quantify many different compounds in biological samples. The equipment is currently available in specialist centres investigating metabolic disorders and in toxicology laboratories. Improvements in sample introduction and refinements in the mass s...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,评审


    authors: Honour JW

    更新日期:2003-11-01 00:00:00

  • A new method of measuring the antioxidant activity of polyphenols using cumene hydroperoxide.

    abstract:BACKGROUND:It is well known that polyphenols lower the risk of chronic diseases such as heart disease and cancer. We describe a new method using cumene hydroperoxide (CHP) to determine the antioxidant activity of polyphenols. CHP is considered to be a model reactive lipid peroxidation product. METHODS:The method was b...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Sugita O,Ishizawa N,Matsuto T,Okada M,Kayahara N

    更新日期:2004-01-01 00:00:00

  • Objective determination of appropriate reporting intervals.

    abstract:BACKGROUND:The reporting interval is the incremental value chosen in reporting analyte concentration. Reporting intervals for different analytes are often inappropriately narrow, when analytical imprecision and biological variability are considered. METHODS:We have used statistical techniques to determine intervals fo...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Badrick T,Wilson SR,Dimeski G,Hickman PE

    更新日期:2004-09-01 00:00:00

  • An automated method for the analysis of urinary free catecholamines using ASTED and high-pressure liquid chromatography.

    abstract::A high-pressure liquid chromatography procedure for the measurement of free catecholamines in urine is described. 'On-line' sample preparation using a cartesian robot combined with the ASTED process ensures minimal operator intervention and reduced costs. ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Green B,Cooper JD,Turnell DC

    更新日期:1989-07-01 00:00:00

  • Clinical impact of variability in HbA1c as assessed by simultaneously measuring fructosamine and use of error grid analysis.

    abstract:BACKGROUND:Haemoglobin A1c (HbA1c) is the only measure of glycaemic control used for many patients with diabetes, but it has limitations and might sometimes be misleading. HbA(1c) concentrations are influenced by conditions that alter red-cell life and there is evidence that biochemical variation in intracellular glyca...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Macdonald DR,Hanson AM,Holland MR,Singh BM

    更新日期:2008-07-01 00:00:00

  • Hypopituitarism presenting as a mixed hyperlipidaemia.

    abstract::A case report is presented of a 37-year-old man who, largely by chance, was found to have a marked mixed hyperlipidaemia. As a teenager he had been treated for apparent idiopathic growth hormone deficiency, but had also never developed secondary sexual characteristics. Pituitary hormone measurement was now consistent ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Kilpatrick ES,Patmore JE,Rowland-Hill C,Atkin SL

    更新日期:2004-07-01 00:00:00

  • Direct assay for progesterone in saliva: comparison with a direct serum assay.

    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


    authors: Webley GE,Edwards R

    更新日期:1985-11-01 00:00:00

  • Effect of storage of plasma and serum on enzymatic determination of non-esterified fatty acids.

    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


    authors: Menéndez LG,Fernández AL,Enguix A,Ciriza C,Amador J

    更新日期:2001-05-01 00:00:00

  • A method for measuring glycerol-blanked triglyceride concentrations by using gas chromatography-isotope dilution mass spectrometry.

    abstract:BACKGROUND:Serum triglyceride concentrations are measured as total glycerides content in many Western countries. In Japan, glycerol-blanked triglycerides (TG-GB) are measured to identify postprandial hypertriglyceridaemia and to minimize the influence of glycerol formulation on serum triglyceride values. However, TG-GB...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Koyama I,Imano H,Nakamura M,Kitamura A,Kiyama M,Miyamoto Y,Iso H

    更新日期:2020-05-01 00:00:00

  • Application and validation of a urinary methadone metabolite (EDDP) immunoassay to monitor methadone compliance.

    abstract::A total of 1381 urine specimens were screened using a Microgenics CEDIA urinary primary methadone metabolite (2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine; EDDP) immunoassay (cut-off calibrator concentration of 100 microg/L) in combination with a Dade Behring EMIT urinary methadone immunoassay (cut-off calibrator...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: George S,Parmar S,Meadway C,Braithwaite RA

    更新日期:2000-05-01 00:00:00

  • Troponin T for the differential diagnosis of ischaemic myocardial damage.

    abstract::The diagnostic performance of a new enzyme linked immunosorbent assay for the cardiac structural protein troponin T in the differential diagnosis of ischaemic cardiac damage was assessed. A well documented set of patients admitted to the coronary care unit of a district general hospital were studied. At a cutoff value...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Collinson PO,Moseley D,Stubbs PJ,Carter GD

    更新日期:1993-01-01 00:00:00

  • Fractionation of urine to allow desmosine analysis by radioimmunoassay.

    abstract::The present study was designed to re-evaluate the radioimmunoassay for desmosine in urine, which is currently used as a measure of elastin metabolism. Using ion exchange chromatography, gel filtration and affinity chromatography it was shown that at least five other compounds in hydrolysates of human urine competed fo...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Starcher B,Scott M

    更新日期:1992-01-01 00:00:00

  • Glycosylated haemoglobin by affinity chromatography in diabetic and non-diabetic children.

    abstract::We have made an evaluation of glycosylated haemoglobin measurements by affinity chromatography in a paediatric population. Age-related reference values for non-diabetic infants and children are reported. A poor correlation (r = 0.24) was found between glycosylated haemoglobin values in 26 insulin-dependent diabetic ch...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: van Heyningen C,Hanid TK,Hopkinson I

    更新日期:1986-07-01 00:00:00

  • Discovery of microRNA expression profiles involved in regulating TGF-β2 expression in the tears of dry eye patients.

    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


    authors: Wang Q,Xie X,Li H,Hao S

    更新日期:2020-11-01 00:00:00

  • Thyroid guidelines - are thyroid-stimulating hormone assays fit for purpose?

    abstract::Most thyroid-stimulating hormone (TSH) assays now have the sensitivity required by thyroid guidelines and allow the reliable identification of patients with both overt and subclinical hyperthyroidism. Clinical guidelines usually quote decision limits for TSH, but often ignore the issue of whether variability in bias b...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Beckett G,MacKenzie F

    更新日期:2007-05-01 00:00:00

  • Measurement of erythrocyte acetylcholinesterase and plasma cholinesterase activity by a differential pH technique.

    abstract::We describe a new electrochemical method for the determination of erythrocyte acetylcholinesterase activity (EC and plasma cholinesterase (EC activity, based on the measurements of pH variation due to release of acetic acid from acetylcholine. The major advantages of the differential pH procedure are...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Barenghi L,Ceriotti F,Luzzana M,Ripamonti M,Mosca A,Bonini PA

    更新日期:1986-09-01 00:00:00

  • Impact of blood collection method on first-trimester dried blood free Beta hCG and PAPP-A.

    abstract::Background Analysis of dried blood specimens has been an integral part of laboratory medicine dating back to the early 1960s when they were introduced as part of neonatal screening programs. More recently, they have been used in Down syndrome screening programmes. Dried blood spot specimens can be collected either by ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Krantz DA,Carmichael JB

    更新日期:2013-11-01 00:00:00

  • Quality assessment of urinary organic acid analysis.

    abstract::The number of known inherited metabolic disorders resulting in an organic aciduria has increased steadily over the past two decades. Prompt and reliable detection is both clinically and technically demanding but is essential if appropriate treatment is to be undertaken. This is the first study of laboratory performanc...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章


    authors: Bonham JR,Downing M,Pollitt RJ,Manning NJ,Carpenter KH,Olpin SE,Allen JC,Worthy E

    更新日期:1994-03-01 00:00:00