Abstract:
OBJECTIVES:A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. DESIGN AND METHODS:Usage of a temperature gradient against running time was tested with 33 identified mutations in the LDL receptor gene. Most of the mutations were missense. RESULTS:32 mutations were detected using this method (sensitivity: 97%). The duration required for running the test for each of the exons was reduced to 3-4 h. CONCLUSIONS:This modified CSGE method may be used as a screening procedure in genetic diseases where a variety of mutations may cause illness.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Fard-Esfahani P,Khatami S,Zeinali C,Taghikhani M,Allahyari Mdoi
10.1016/j.clinbiochem.2005.02.002subject
Has Abstractpub_date
2005-06-01 00:00:00pages
579-83issue
6eissn
0009-9120issn
1873-2933pii
S0009-9120(05)00044-5journal_volume
38pub_type
杂志文章abstract::Our studies lead us to suggest that in order for an organic chemical to cause porphyrin accumulation in chick embryo hepatocyte culture, it must be: 1. lipophilic; 2. resistant to biotransformation by phase I or phase II reactions to compounds which are devoid of biological activity; and 3. capable of interacting with...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(89)80073-6
更新日期:1989-06-01 00:00:00
abstract::The use of alcohol and tobacco is prevalent among pregnant women despite the well-known adverse effects of these substances imposed on the developing fetus and immense public health education efforts. Confirmation of gestational exposures to these compounds have relied mostly on maternal self-reporting, which is often...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2004.01.010
更新日期:2004-06-01 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:OBJECTIVES:The use of iodinated contrast media has grown in popularity in the past two decades, but relatively little attention has been paid to the possible interferential effects of contrast media on laboratory test results. Herein, we investigate medical contrast media interference with routine chemistry results obt...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2017.02.023
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVES:To measure serum cholinesterase (SCHE) with an integration strategy. DESIGN AND METHODS:At 54.0 micromol/L butyrylthiolcholine, SCHE initial rates were calculated with 50.0 micromol/L butyrylthiolcholine and maximal rates via an improved integrated method if substrate consumptions within 5.0 min were over 6...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.11.016
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVES:To evaluate the results of oxygen consumption measurement in lymphocytes for the diagnosis and treatment monitoring of pediatric patients with oxidative phosphorylation diseases. DESIGN AND METHODS:Twenty-four children with an oxidative phosphorylation disease were studied. Results were compared with those ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(00)00137-5
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVE:Apolipoprotein E (APOE) E4, apolipoprotein B-100 (APOB) Q3611 allele, the angiotensin converting enzyme (ACE) deletion (D) allele and glycoprotein IIIa (GP3A) P33 mutant allele are reported to predispose to early-onset coronary heart disease (CHD). These associations were not all confirmed in more recent stud...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00017-x
更新日期:1999-06-01 00:00:00
abstract::Liquid chromatography (LC) coupled to mass spectrometry (MS) or tandem mass spectrometry (MS/MS) has become increasingly important in clinical and forensic toxicology as well as doping control and is now a robust and reliable technique for routine analysis in these fields. In recent years, methods for LC-MS(/MS)-based...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2010.08.008
更新日期:2011-01-01 00:00:00
abstract::1. The following proteolytic enzymes were measured in muscles of control subjects and patients with muscular dystrophies and related neuromuscular diseases: an elastase-like enzyme, carboxypeptidase A, carboxypeptidase B and pyroglutamyl peptidase. 2. Elastase-like enzyme and carboxypeptidase B did not show significan...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(79)80001-6
更新日期:1979-04-01 00:00:00
abstract:UNLABELLED:Antioxidant capacity testing is commonly used in clinical investigations to provide an estimate of in vitro antioxidant capacity of biosamples. Although beneficial to measure the synergistic contribution of all compounds with antioxidant functionality, assessing the capacity of non-protein fractions or small...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.06.021
更新日期:2014-10-01 00:00:00
abstract::Unexpected differences in clinical and biochemical findings in two brothers occupationally exposed to the same source of lead for dissimilar lengths of time are presented. Only the brother with the shorter period of lead exposure was anemic and afflicted by nausea, vomiting, abdominal colic and arthralgia. His urinary...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(85)80090-4
更新日期:1985-04-01 00:00:00
abstract:BACKGROUND:Determination of metanephrine (MN), normetanephrine (NMN), and 3-methoxytyramine (3-MT) in saliva may offer potential diagnostic advantages in diagnosing pheochromocytoma. METHODS:In this preliminary study, we determined metanephrine concentrations in saliva of healthy subjects and the relationship with sim...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.02.003
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:To evaluate the comparative chemopreventive efficacy of green tea polyphenols (Polyphenon-E) and black tea polyphenols (Polyphenon-B) on 7,12-dimethylbenz[a]anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis. DESIGN AND METHODS:Hamsters were divided into 6 groups. Animals in group 1 served ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.06.011
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVES:To determine the impact of long distance rowing (160km, nonstop) on standard biological parameters and to study the relation between inflammation, myocardial necrosis, lipid profile, heart rate and energy expenditure. METHODS:Electrolytes, lipid profile, C-reactive protein (CRP), interleukin-6 (IL-6), tumor...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2017.11.018
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:Histamine (HA) is a small amine playing an important role in anaphylactic reactions. In order to identify and quantify HA in plasma matrix, different methods have been developed but present several disadvantages. Here, we developed an alternative method using liquid chromatography coupled with an ultra-high ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.08.012
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:Preeclampsia, the most common pregnancy-associated pathological syndrome, is accompanied by significant remodelling of the extracellular matrix and alteration in lipid composition of the umbilical cord artery (UCA). DESIGN AND METHODS:We evaluate the sphingolipid composition of UCA and its alteration in pre...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.07.011
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVES:To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1). DESIGN AND METHODS:Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations,...
journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究
doi:10.1016/j.clinbiochem.2008.01.018
更新日期:2008-05-01 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:OBJECTIVES:The aim of this study was to investigate the diagnostic utility of plasma neutrophil gelatinase-associated lipocalin (NGAL) as an early objective biomarker to predict acute kidney injury (AKI) in critically ill patients with suspected sepsis, for whom procalcitonin (PCT) was used for the diagnosis and stagin...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.05.069
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVES:This study examines the redox status of drug-resistant epileptic patients and how it is modified after surgical treatment. DESIGN AND METHODS:The activity of antioxidant enzymes (superoxide dismutase, catalase and glutathione peroxidase), and markers of damage to biomolecules (malondialdehyde and advanced o...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.11.019
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Plasma concentrations of human chorionic gonadotropin (hCG) have been shown to increase with age due to pituitary secretion. We previously recommended that an hCG cutoff of 14.0IU/L be used for women ≥55years of age. However, it remains unknown whether concentrations >14.0IU/L can be expected in women with a...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.11.017
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVES:Salivary analysis is a noninvasive alternative that may be more acceptable to patients, especially children. As such, it has the potential for incorporation into comprehensive, dynamic investigations of metabolic dysfunctions - a significant advancement over a single time point serum analysis. In this study,...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00471-x
更新日期:2003-05-01 00:00:00
abstract::This article reviews some of the important determinants of variation in drug disposition such as age, gender, body weight, diet, environmental influences, drug - protein interactions, compliance, drug - drug interactions, endogenous substances, disease states, circadian variation and genetics. ...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(86)80050-9
更新日期:1986-04-01 00:00:00
abstract:OBJECTIVES:We studied the stability of maternal blood markers for screening for Down syndrome (alpha-fetoprotein, unconjugated estriol, intact human chorionic gonadotropin (hCG) and free beta-human chorionic gonadotropin) upon repeated freeze-thaw cycles. DESIGN AND METHODS:Forty-three samples collected from second tr...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(97)00095-7
更新日期:1997-10-01 00:00:00
abstract::Two studies are described in this paper for the purpose of extending the application of the Dupont ACA glucose method to (1) analysis of specimens containing sodium fluoride and sodium iodoacetate, and (2) analysis of specimens containing EDTA, provided analysis is conducted immediately following specimen collection a...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(82)96520-1
更新日期:1982-04-01 00:00:00
abstract:OBJECTIVE:This study aimed to evaluate the effects of statin therapy on serum levels of antibodies to several specific heat shock proteins (HSPs) in dyslipidemic patients. DESIGN AND METHODS:Participants (n=102) were treated with simvastatin (40mg/day), or placebo in a randomized, double-blind, placebo-controlled, cro...
journal_title:Clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.clinbiochem.2010.09.016
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVES:Studies from both experimental animals and humans suggest that administration of exogenous DHEA may have beneficial endocrine-metabolic, immunologic and neurologic effects. Several groups have administered DHEA to humans, but to the best of our knowledge, no one at this point has published a summary of the r...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00021-1
更新日期:1999-07-01 00:00:00
abstract::The bromocresol purple (BCP) albumin method on the DuPont aca was evaluated by determining the accuracy and precision of the method. A split sample comparison was performed against the electroimmunoassay (EIA) method as well as the bromocresol green (BCG) method on the DuPont aca and the Technicon SMA 12/60. The BCP m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(83)90490-3
更新日期:1983-04-01 00:00:00
abstract::This retrospective multicenter study in patients with chronic myeloid leukemia in chronic phase was undertaken to confirm the clinical relevance of imatinib plasma concentrations monitoring in daily practice. Forty-one patients, with 47 imatinib plasma measurements, were analyzed during treatment with imatinib given a...
journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究
doi:10.1016/j.clinbiochem.2016.12.006
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVES:The ratio of glycated albumin to HbA1c (GA/HbA1c ratio) is a known indicator that reflects fluctuations in plasma glucose. In this study, the association of the GA/HbA1c ratio to diabetic nephropathy and diabetic retinopathy in patients with type 2 diabetes was investigated. DESIGN AND METHODS:Among patient...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.11.032
更新日期:2017-04-01 00:00:00