Abstract:
BACKGROUND:Genetic predisposition to hemochromatosis involves several different point mutations in the HFE gene. Routine testing for two such mutations (H63D and S65C) using real-time genotyping deserves special care, as these mutations are in close proximity (6 bp) of each other. METHODS:A novel assay was designed for these two mutations based on a SimpleProbe assay format that allows for more flexibility in assay design, as it requires only one detection probe instead of the two probes that are commonly used with a hybridization probe based assay. RESULTS:The SimpleProbe assay format yielded data that were easily interpreted without significant optimizing efforts. CONCLUSIONS:The SimpleProbe assay format offers some unique advantages compared to hybridization probes and offers a robust and interesting alternative to hybridization probes in the detection of genetic variations. This is the first time that the use of this assay format is described in the clinical literature.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Klaassen CH,van Aarssen YA,van der Stappen JWdoi
10.1515/CCLM.2008.197subject
Has Abstractpub_date
2008-01-01 00:00:00pages
985-6issue
7eissn
1434-6621issn
1437-4331pii
10.1515/CCLM.2008.197journal_volume
46pub_type
杂志文章abstract::Transferrin concentration and total iron binding capacity (TIBC) are currently used to assess iron status. Although correlation between TIBC and transferrin is generally considered as good, conversion factors between the two analytes found in literature show large differences. Although the price per test is lower for ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2002.176
更新日期:2002-10-01 00:00:00
abstract::A rat model is introduced which enables investigations in anticoagulated blood with continuous measurements by a flow-through electrode system. In the present study, a potentiometric ion-selective electrode (ISE)-system was used for measuring Ca2+, K+, Na+ and pH in rats. The setup was adjusted to an extracorporeal bl...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1998.149
更新日期:1998-11-01 00:00:00
abstract:BACKGROUND:The Schwartz 2009 creatinine-based revised formula is the only pediatric GFR estimating formula, which is compatible with the recent global creatinine standardization. This formula is only applicable if enzymatic creatinine methods are used. We propose an equation, taking into account the relative bias cause...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0033
更新日期:2012-03-09 00:00:00
abstract::It has been well reported over recent years that most errors within the total testing process occur in the pre-analytical phase (46%-68.2%), an area that is usually outside of the direct control of the laboratory and which includes sample collection (phlebotomy). National and international (WHO, CLSI) guidelines recom...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,实务指引
doi:10.1515/cclm-2016-0426
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Galectin-3 is an emerging biomarker of heart failure and of myocardial fibrosis risk. Monitoring of galectin-3 is essential during treatment with galectin-3 inhibitors. The aim of our study was to assess long-term biological variability in a specific group of unhealthy subjects. METHODS:The biological varia...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 临床试验,杂志文章
doi:10.1515/cclm-2013-1088
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:The dogma of establishing intra-laboratory reference limits (RLs) and their periodic review cannot be fulfilled by most laboratories due to the expenses involved. Thus, most laboratories adopt external sources for their RLs, often neglecting the problems of transferability. This is particularly problematic f...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2011.114
更新日期:2011-04-01 00:00:00
abstract::Intake of drugs may influence the interpretation of laboratory test results. Knowledge and correct interpretation of possible drug-laboratory test interactions (DLTIs) is important for physicians, pharmacists and laboratory specialists. Laboratory results may be affected by analytical or physiological effects of medic...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2018-0900
更新日期:2018-11-27 00:00:00
abstract:BACKGROUND:The Intermountain Mortality Risk Score (IMRS), a sex-specific mortality-prediction metric, has proven to be effective in various populations. IMRS is comprised of the complete blood count (CBC), basic metabolic panel (BMP), and age. Whether the addition of factors from the comprehensive metabolic panel (CMP)...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2015-1258
更新日期:2016-10-01 00:00:00
abstract::Background Brevican, neurocan, tenascin-C and tenascin-R are extracellular matrix proteins present in brain that show increased expression in experimental animal models of brain injury. However, little is known about the dynamics of these proteins in human body fluids, such as cerebrospinal fluid (CSF) and serum, afte...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0034
更新日期:2019-09-25 00:00:00
abstract::Although controversial, data on the genetic polymorphism of apoprotein E (APOE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implicate their role in the development of cerebrovascular disease. The aim of this study was to assess the association of polymorphism of APOE, MTHFR and PON1 genes in 56 str...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2001.054
更新日期:2001-04-01 00:00:00
abstract:BACKGROUND:Interleukins, interferons and oxidative DNA products are important biomarkers assessing the inflammations and tissue damages caused by toxic materials in the body. We tried to evaluate distributions, reference values and age related changes of blood levels of inflammatory cytokines, C-reactive protein (CRP),...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0330
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Automated systems have been broadly used in the counting of particles in urine, while manual microscopic analyses are still required for confirming components of urine sediments, especially pathologic casts and other unknown particles. Good review rules can reduce the number of manual urine microscopy examin...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0272
更新日期:2012-12-01 00:00:00
abstract::There is no comprehensive study on the stability of coagulation analytes in plasma. We therefore determined the influence of storage time and temperature on prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, factors V and VIII, antithrombin III, protein C and S in plasma from 20 health...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1998.077
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:alpha-Thalassemia is a worldwide disease and considered to be a major public health problem in countries within the so-called thalassemia belt. The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations. METHODS:We...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/CCLM.2007.125
更新日期:2007-01-01 00:00:00
abstract::Urinary cotinine was measured according to its inhibitory activity on the agglutination of cotinine-coated latex particles by anti-cotinine antibodies, the agglutination being measured by optical counting of the remaining non-agglutinated particles (particle counting, PaC). The detection limit was 0.03 microgram/ml an...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1999.112
更新日期:1999-07-01 00:00:00
abstract:BACKGROUND:The few available External Quality Assessment (EQA) programs on urinary sediment rarely include an evaluation of clinical cases. The present paper provides a descriptive analysis of clinical cases included in the Italian EQA program on urinary sediment. METHODS:Ten cases were presented over a 5-year period ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2013-0785
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:With patients referred to emergency departments (EDs) for acute dyspnea, emergency physicians should consider all possible diagnoses and assess patients' risk stratification. Copeptin has been shown to have prognostic power for subsequent events, such as death and rehospitalization in patients admitted for d...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0207
更新日期:2014-10-01 00:00:00
abstract::The concentration of leukocyte elastase/alpha1-proteinase inhibitor complexes in plasma and polymorphonuclear neutrophil extracts, and plasma trypsin inhibitory capacity were determined in 88 patients with type 2 diabetes and 47 control subjects. Higher values of these variables were found in patients as compared to c...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2000.198
更新日期:2000-12-01 00:00:00
abstract:PURPOSE:Premature osteoporosis is a frequent problem in female athletes. Current concepts suggest that a disruption of the hypothalamic-pituitary axis leads to hypoestrogenism, which then causes amenorrhea and osteoporosis. However, the underlying mechanisms have been insufficiently investigated. Osteoprotegerin (OPG) ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 临床试验,杂志文章
doi:10.1515/CCLM.2004.258
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Low levels of plasma homocysteine have been found in children and adult populations living in Burkina Faso in association with a low prevalence of coronary heart disease. METHODS:Based on this finding, the levels of plasma homocysteine and other thiols (cysteine, cysteinylglycine, glutathione) in postmenopa...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2005.131
更新日期:2005-01-01 00:00:00
abstract::Folate measurements, particularly for whole blood, show wide inter-laboratory and inter-methodology variability. This variability appears to be due in part to the lack of internationally accepted reference materials. A whole blood haemolysate, lyophilised in ampoules and designated 95/528, was therefore evaluated by 1...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2004.090
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:There is a certain difference in opinion regarding the optimal choice of housekeeping genes used as normalization factors in gene expression analysis. We have therefore examined the suitability of three housekeeping genes, hypoxanthine phosphoribosyl transferase, beta-glucuronidase and beta2-micro-globulin, ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2007.303
更新日期:2007-01-01 00:00:00
abstract::Severe thermal injury causes an immune dysfunction which includes a decrease of monocyte human leukocyte antigen DR (HLA-DR) expression. Interleukin-10 exerts a negative influence on this parameter in vitro. In this study we determined the prognostic value of reduced monocyte HLA-DR expression with regard to infectiou...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1999.036
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:The objective of this study was to examine the diagnostic accuracy of high-sensitivity cardiac troponin T (hs-cTnT) for acute myocardial infarction (AMI) in patients with renal insufficiency, since this population has a high incidence of non-AMI elevations of hs-cTnT. METHODS:In this prospective study, we e...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0715
更新日期:2015-04-01 00:00:00
abstract::In Greece, there is no officially organized training in clinical chemistry for scientists. The Greek Society of Clinical Chemistry-Clinical Biochemistry (GSCC-CB), following the encouragement of the EC4/RC decided to organize a voluntary Register for specialists in clinical chemistry. The following criteria for regist...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2011.687
更新日期:2011-08-30 00:00:00
abstract::Evidence of the acute lack of interchangeable laboratory results and consensus in current practice among clinical laboratories has underpinned greater attention to standardization and harmonization projects. Although the focus is mainly on the standardization of measurement procedures, the scope of harmonization goes ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/cclm-2013-0075
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Accurate outcome prediction in gastroesophageal malignancies is challenging. Acute-phase response proteins (APRPs) have been claimed to be independent prognosticators, although the basis for their association with prognosis remains unexplained. We hypothesized that, similarly to pancreatic and lung cancers, ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.089
更新日期:2008-01-01 00:00:00
abstract::Reference intervals in clinical chemistry are commonly based on results of measurements in reference populations or are taken from the literature. A reference population should represent a defined group of individuals and be as similar as possible to the patients under investigation. Frequently, reference populations ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2000.093
更新日期:2000-07-01 00:00:00
abstract:BACKGROUND:This paper describes the evolution, structure, operation and some outcomes of the Brazilian Laboratory Indicators Program created by the Brazilian Society of Clinical Pathology/Laboratory Medicine (Sociedade Brasileira de Patologia Clínica/Medicina Laboratorial, or SBPC/ML), in partnership with ControlLab, a...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0357
更新日期:2012-11-01 00:00:00
abstract::There is currently no well-established biomarker for Parkinson's disease. The need to better diagnose the condition, define the subtypes of disease, and follow its course independent of any symptomatic drug effects is well-established. In this review, we will begin by reviewing the evidence for biological fluid biomar...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2011.080
更新日期:2011-03-01 00:00:00