Abstract:
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.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Ihara H,Shino Y,Hashizume N,Shimizu N,Aoki T,Yoshida Mdoi
10.1258/000456303322326443subject
Has Abstractpub_date
2003-09-01 00:00:00pages
528-33issue
Pt 5eissn
0004-5632issn
1758-1001journal_volume
40pub_type
杂志文章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::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
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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
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doi:10.1258/000456307780480927
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journal_title:Annals of clinical biochemistry
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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 ...
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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...
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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...
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pub_type: 杂志文章,评审
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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....
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journal_title:Annals of clinical biochemistry
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journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
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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
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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
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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
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journal_title:Annals of clinical biochemistry
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journal_title:Annals of clinical biochemistry
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更新日期:1992-01-01 00:00:00
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journal_title:Annals of clinical biochemistry
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更新日期:1986-07-01 00:00:00
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更新日期:1994-03-01 00:00:00