Abstract:
:Autosomal dominant olivopontocerebellar degeneration was evaluated in a family numbering 414 living members. Urine samples were obtained from 5 affected and 5 unaffected not at-risk family members after 4 days on a synthetic diet. 159 urine vapor constituents were measured by gas-liquid and ion-exchange chromatography and a non-correlation index was calculated. 2 distinct populations of urine vapor patterns were identified which conformed to the normal and disease affected groups, thus a diagnostically useful pattern for this disease in this family has been demonstrated which will be helpful in genetic counselling and potential elimination of the disease.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Rosenberg RN,Robinson AB,Partridge Ddoi
10.1016/s0009-9120(75)93752-2subject
Has Abstractpub_date
1975-12-01 00:00:00pages
365-8issue
6eissn
0009-9120issn
1873-2933pii
S0009-9120(75)93752-2journal_volume
8pub_type
杂志文章abstract:OBJECTIVE:To evaluate the potential diagnostic value of apolipoprotein E (ApoE) measurements in pediatric patients with invasive bacterial infections. DESIGN AND METHOD:A total of 185 pediatric patients were enrolled in this study, including 94 patients with confirmable infections and 91 patients without confirmable i...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.11.009
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVES:We evaluated the effects of lifestyle modification (LM) on lipid profile, oxidative stress and serum-stimulated human coronary artery endothelial cell (HCAEC) viability in coronary artery disease (CAD) patients after 6months. DESIGN AND METHODS:Thirty patients with CAD were randomly assigned to LM intervent...
journal_title:Clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.clinbiochem.2010.04.056
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVES:Current extraction methods for cobalamins from serum influence the molecular characteristics of the vitamin. Therefore, an extraction procedure that leaves the cobalamins unchanged is needed. DESIGN AND METHODS:Monoclonal antibodies towards transcobalamin (TC) and haptocorrin (HC) (in house) linked to magne...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.09.008
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVES:Pleural effusion recognizes heterogeneous etiology and pathogenesis and requires invasive diagnostic procedures. Usually, after pleural fluid analysis, 30-50% of patients with malignant pleural effusion exhibit negative pleural cytology, and the sensitivity of image-guided pleural needle-aspiration biopsy ra...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2016.08.006
更新日期:2016-11-01 00:00:00
abstract::Only recently has radioimmunoassay been used for the detection of drugs of abuse in body fluids. The radioimmunoassay method is rapid, sensitive, specific, and can be performed with a minimum of sample, while conventional assay methods are time-consuming, relatively insensitive, and require a larger sample volume. Per...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(78)90098-x
更新日期:1978-06-01 00:00:00
abstract:OBJECTIVES:Oxidative stress is considered to be a unifying link between diabetes mellitus (DM) and its complications including nephropathy. The aim of the present study was to evaluate oxidative stress status in Asian Indian patients of type 2 DM with nephropathy. DESIGN AND METHODS:Serum levels of malondialdehyde (MD...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(03)00094-8
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:To identify independent predictors of serum butyrylcholinesterase (BuChE) activity and examine its relationship with the metabolic syndrome. DESIGN AND METHODS:Serum BuChE activity was measured and metabolic syndrome risk factors were assessed in 1097 healthy subjects recruited from the Newfoundland adult po...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.04.008
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:We evaluated the erythrocyte lipid susceptibility to oxidation and erythrocyte antioxidant status in patients with myocardial infarction (MI). DESIGN AND METHODS:Patients with MI were divided into two group according to the severity of the disease as severe (n = 30) or milder (n = 25). Malondialdehyde as a m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00070-8
更新日期:1998-11-01 00:00:00
abstract::High-sensitivity cardiac troponin (hs-cTn) assays have been used clinically by thousands of physicians in many countries throughout the world since their clinical introduction seven years ago. In the early diagnosis of myocardial infarction (MI), beyond doubt the most important indication of hs-cTn assays, these simpl...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2017.12.006
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVES:End-stage renal disease (ESRD) is characterized by profound dyslipidemia and enhanced oxidative stress. The patients also show evidence of exhausted and/or deficient anti-oxidative defense enzymes, one of them being glutathione-S-transferase (GST). This study investigates relationship between GST gene polymo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.11.011
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVES:Prostate specific antigen (PSA) is a widely used and clinically valuable marker for prostate disease. In order to enable the development of new PSA assays and progress the understanding of the biology of PSA we have analyzed PSA in seminal plasma. DESIGN AND METHODS:PSA in seminal plasma from men attending ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.11.018
更新日期:2012-03-01 00:00:00
abstract::The use of point-of-care (POC) immunoassays has increased significantly and the menu of analytes continues to expand. Most of the rapid immunoassays are currently based on simple manual assay devices such as the immunochromatographic, agglutination, and immunofiltration assays. Although automated readers have recently...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2005.03.008
更新日期:2005-07-01 00:00:00
abstract::Plasma levels of dehydroepiandrosterone sulfate, dehydroepiandrosterone and delta 5-androstenediol were measured in several women throughout pregnancy. The levels of both dehydroepiandrosterone and its sulfate decreased while those of delta 5-androstenediol did not. The levels of binding of the latter steroid to plasm...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(80)90795-x
更新日期:1980-06-01 00:00:00
abstract:UNLABELLED:Chronic liver diseases may cause inflammation and progressive scarring, over time leading to irreversible hepatic damage (cirrhosis). As a result, the need to assess and closely monitor individuals for risk factors of components of matrix deposition and degradation, as well as the severity of the fibrosis us...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2015.07.019
更新日期:2016-02-01 00:00:00
abstract::1. A procedure for the assay of triglycerides on the ABA-50 is described. 2. The Boehringer Mannheim Triglyceride (Fully Enzymatic method) reagent kit has been evaluated with this method and was found to be satisfactory. ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(77)93190-3
更新日期:1977-12-01 00:00:00
abstract:OBJECTIVES:The non-invasive differentiation of ischemic and non-ischemic acute heart failure (AHF) not resulting from acute myocardial infarction is difficult and has therapeutic and prognostic implications. The aim of this study was to assess whether plasma B-type natriuretic peptide (BNP) can identify ischemic etiolo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.01.025
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVES:Elevated advanced glycation endproducts (AGEs) are implicated in diabetic complications. Methylglyoxal-derived hydroimidazolone (MG-H) is one of the most abundant AGEs in vivo. Our objective was to develop a time-saving, specific method to measure free MG-H in plasma and determine its levels in complication-...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.12.016
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:To quantitatively summarize the association between tumour necrosis factor alpha (TNF-alpha) gene polymorphisms and Graves' disease. DESIGN AND METHODS:Relevant studies were identified from the following electronic databases: Cochrane Library, MEDLINE, EMBASE and Chinese Bio-medicine Database. A meta-analysi...
journal_title:Clinical biochemistry
pub_type: 杂志文章,meta分析
doi:10.1016/j.clinbiochem.2008.04.014
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVES:Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene. DESIGN AND METHODS:In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.04.020
更新日期:2006-07-01 00:00:00
abstract:AIMS:There is increasing interest in using fructosamine measurements in screening for or managing diabetes, yet uncertainty remains as to whether these measurements should be corrected for variation in serum protein concentrations. METHODS:We considered all sets of simultaneous measurements of fructosamine, albumin, t...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.10.014
更新日期:2017-02-01 00:00:00
abstract::The Institute of Medicine (IOM) report (1999) stated that the prevalence of medical errors is high in today's health care system. Some specialties in health care are more risky than others. A varying blunder/error rate of 0.1-9.3% in clinical diagnostic laboratories has been reported in the literature. Many of these e...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2004.08.009
更新日期:2004-12-01 00:00:00
abstract::We present data comparing the Roche CEA radioimmunoassay (RIA) utilizing ultrafiltration and the Abbott CEA immunoradiometric assay (IRMA) methods for standard curve sensitivity, analytical reproducibility, recovery (pre and post extraction), dilution linearity, and patient correlation. The Roche intra- and inter-assa...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(82)97007-2
更新日期:1982-10-01 00:00:00
abstract:OBJECTIVES:To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. DESIGN AND METHODS:We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Rea...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.03.140
更新日期:2011-07-01 00:00:00
abstract:CONTEXT:Knee arthroplasty surgery is significant trauma, leading to an activated immune system causing inflammation and oxidative stress. Many current biomarkers are invasive, costly, and often slow to analyse, limiting their use for rapid inflammatory measurements. OBJECTIVES:We have examined the use of urinary neopt...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.clinbiochem.2018.11.002
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVES:To investigate the possible association between functional variant Ala-9Val in the MnSOD gene and asthma in the case-control study comprising 626 Caucasian subjects. METHODS:MnSOD genotypes were determined by PCR with subsequent restriction analysis by the BsaWI enzyme. RESULTS:Significant differences in a...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.12.001
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:To characterize the lipid-related atherogenic risk factors in iron deficiency anaemia (IDA) patients. DESIGN AND METHODS:Twenty IDA women were compared to healthy age-matched controls. Lipoprotein profile, cholesteryl ester transfer protein (CETP), paraoxonase (PON) 1 and lipoprotein-associated phospholipase...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.10.003
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVES:This study aims to report a hitherto un-described α-globin gene triplicated allele with a novel hemoglobin (Hb) variant on α2-globin gene, Hb St.Luke's-Thailand [α95(G2)Pro-Arg]. DESIGNS AND METHODS:A study was done on a 1.5-year-old Thai boy who showed pallor and jaundice after birth. Hb analysis was perfo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.01.022
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVE:This study aimed at evaluating Elecsys free triiodothyronine (FT3) assay performed on an Elecsys 2010 system, while paying special attention to age relationship in euthyroid subjects. DESIGN AND METHODS:FT3 levels were measured in 149 euthyroid control subjects aged between 2 and 92 years old, 33 hyperthyroi...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00024-1
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVES:To verify the role of IL-12 in the pathogenesis of psoriasis and determine its relation to IFNgamma. DESIGN AND METHODS:Skin biopsies from lesional and non-lesional skin of 30 patients and 10 healthy controls were obtained for quantitative PCR examination of IL-12 (P40) and IFNgamma mRNA as well as in situ ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.11.008
更新日期:2006-02-01 00:00:00
abstract::This review focusses on research performed by the author and coworkers. The absorption, turnover and excretion of cobalamin and the pathogenesis of cobalamin deficiency states are described and the laboratory tests used to diagnose these states are discussed. Topics dealt with in detail include: overall turnover, dail...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(84)90279-0
更新日期:1984-04-01 00:00:00