Abstract:
:Congenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) protein variants. Analysis of serum Tf by isoelectric focusing is used as a common method suitable for screening 19 out of a total of 22 types of glycosylation defects identified so far. In three members of a family, several indicators showed evidence of a Tf protein variant, however, routine neuraminidase-based demonstration failed to confirm this result. On the assumption that we should be able to exclude Tf protein variants at the screening-level of the diagnostic algorithm, our concern is a possible cause of our failure to confirm some of the Tf D variants (in contrast to the other C, B and D allelic combinations that are commonly well identified). Several explanations are discussed.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Marklová E,Albahri Zdoi
10.1002/jcla.20293subject
Has Abstractpub_date
2009-01-01 00:00:00pages
77-81issue
2eissn
0887-8013issn
1098-2825journal_volume
23pub_type
杂志文章abstract::N-terminal pro-brain natriuretic peptide (NT-proBNP) and BNP measurement could have a significant role in differentiating dyspnea between cardiac or pulmonary origin in the emergency room. The development of new and different commercial assays for these B-type natriuretic peptides offers the possibility of improving a...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20146
更新日期:2006-01-01 00:00:00
abstract:AIMS:Essential hypertension (EH) is a high prevalence disease facing a public health challenge. People were little known about the genetics of diagnosing the cause of EH. Circular RNAs that have a continuous cycle of covalent closure, without affected by RNA exonuclease, and are more stable and hard to degrade may invo...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22853
更新日期:2019-05-01 00:00:00
abstract::Novel molecular approaches have recently become available allowing improved major histocompatibility complex (MHC) matching of potential allogeneic bone marrow donors and recipients. Current cellular and serological assays are hindered by aberrant cell populations and limited reagents which only detect an individuals'...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860060515
更新日期:1992-01-01 00:00:00
abstract::Elevated serum chromogranin A (CgA) levels have been detected in patients with prostate cancer who have developed resistance to hormonal therapy. We would like to reexamine these cases by using serial specimens to determine whether such elevated levels are also detectable in prostate cancer patients not undergoing hor...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::An optimized reaction condition for amplification of influenza A virus RNA, by thermus thermophilus (Tth) DNA polymerase-based PCR, incorporating uracil N glycosylase (UNG) and dUTP in the reaction has been determined. dUTP could not be substituted for all dTTP sites when UNG was present in the reaction. The relative ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(sici)1098-2825(1997)11:6<323::aid-jcla2>3
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Reference intervals are critical for interpreting test results of a clinical laboratory. The aim of this study was to establish local reference intervals of complete blood count for healthy preschoolers in China. METHODS:Three thousand eight hundred and twenty-one blood specimens from children aged 4 months...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22095
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:The many techniques used to diagnose the Factor V Leiden (FVL) mutation, the most common hereditary hypercoagulation disorder in Eurasians, and the most frequently requested genetic test reflect the evolving strategies in protein and DNA diagnosis. METHODS:Here, molecular methods to diagnose the FVL mutatio...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20470
更新日期:2011-01-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2825(1996)10:3<134::AID-JCLA4>3
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND:Adiponectin, an adipocyte-derived protein, is known to play a key role in the processes leading to atherosclerosis and coronary artery disease (CAD) through its anti-atherogenic, anti-inflammatory, antioxidative, and anti-apoptotic properties. In the current study, we have studied the association of two sing...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22446
更新日期:2018-09-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21934
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:(a) To evaluate the clinical performance of endocrine analytes using the sigma metrics (σ) model. (b) To redesign quality control strategies for performance improvement. METHODS:The sigma values of the analytes were initially evaluated based on the allowable total error (TEa), bias, and coefficient of varia...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23581
更新日期:2020-09-20 00:00:00
abstract::Previously, an ultrasensitive enzyme immunoassay (immune complex transfer enzyme immunoassay) for p24 antigen of HIV-1 was developed. The immune complex comprising 2,4-dinitrophenyl-biotinyl-bovine serum albumin-rabbit anti-p24 Fab' conjugate, p24 antigen, and rabbit anti-p24 Fab' -beta-D-galactosidase conjugate was t...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2825(1996)10:5<302::AID-JCLA11>
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:Cell-free circular RNAs (circRNAs) are stable and abundantly exist in body fluids. In this study, we aimed to investigate plasma cell-free circRNAs as a novel class of biomarkers for the diagnosis of breast cancer (BC). METHODS:Differentially expressed circRNAs from 6 normal and 6 BC plasma samples were dete...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23393
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:DRI cotinine assay is suitable only for screening for cotinine in urine specimens. We studied the reliability of DRI cotinine semiquantitative values by comparing them with the cotinine concentration obtained with a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. METHODS:Semiquantitative c...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21988
更新日期:2016-11-01 00:00:00
abstract::Staphylococcus lugdunensis is an unusually virulent coagulase-negative species, associated with severe infections. The present report describes the development of a single-step, species-specific PCR protocol for S. lugdunensis identification. fbl gene, encoding a fibrinogen-binding adhesin, was exploited and assessed ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20352
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:After hematopoietic stem cell transplantation (HSCT), early detection of engraftment would be of critical value for clinicians. The aim of this study was to identify faster parameters for engraftment. METHODS:We evaluated blood cell parameters including complete blood count (CBC), differential counts, and v...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21712
更新日期:2014-11-01 00:00:00
abstract::T-lymphocyte function was investigated in a group of eight patients with polycythemia vera (PV) and 13 normals. Responsiveness of T-cells to stimulation by mitogen was significantly impaired in the PV patients (p = .02). Analysis of immune cell subpopulation composition by assessment of cell surface phenotype did not ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860030204
更新日期:1989-01-01 00:00:00
abstract:BACKGROUND:Information on serum albumin and trace elements among children suffering from Sickle Cell Anemia (SCA) was poorly documented in Africa. The aim of this study was to describe and to compare different values of trace elements with published reports from other parts of the world. METHODS:We carried out a case-...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22160
更新日期:2018-01-01 00:00:00
abstract::We report nine donations with ABO inconsistency in reverse typing caused by partly or entirely missing antibodies. A and B antigens and antibodies were examined by serological blood typing, and ABO deoxyribonucleic acid (DNA) analyses were performed by sequence-specific priming and sequencing. A B101 allele was demons...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20196
更新日期:2007-01-01 00:00:00
abstract::In 23 patients with common migraine (CM), immune responsiveness and frequency of immunocompetent cells were investigated. In particular, phagocytosis and killing of Candida albicans by polymorphs (PMNs) and monocytes were analyzed. Also, the percentages of CD3+, CD4+, CD8+, natural killer, and CD15+ cells were evaluat...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860040105
更新日期:1990-01-01 00:00:00
abstract::The objective of this study was to analyze apparently discrepant results that arose during the use of an indirect immunofluorescence (IIF) assay using transfected HEp-2 cells to detect anti-SS-A/Ro autoantibodies in human sera. Fourteen sera that had SS-A/Ro antibodies as detected on this commercial substrate, but did...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.10026
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:Salmonella is an important foodborne pathogen that causes acute diarrhea in humans worldwide. This study analyzed the relationships of serotypes and antibiotic resistance with virulence genes of Salmonella isolated from children with salmonellosis. METHODS:Serological typing was performed using the slide-ag...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23525
更新日期:2020-08-14 00:00:00
abstract::Apoptosis of epithelial hepatocytes plays a pivotal role in acute as well as in chronic liver diseases. The cleavage of cytokeratin-18 (CK-18) by caspases is an early event in the apoptotic process. We therefore sought to investigate serum levels of CK-18 and 20S proteasome in patients with liver cirrhosis, primary gr...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20180
更新日期:2007-01-01 00:00:00
abstract::Amyloid peptide is thought to play a critical role in neuronal death in Alzheimer's disease (AD), most likely through oxidative stress. Free radical-related injury leads to DNA breaks, which subsequently activates the repair enzyme poly(ADP-ribose) polymerase-1 (PARP-1). In this study, the relationship between genetic...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20379
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Reference intervals are important for interpretation of clinical laboratory tests. The platelet (PLT) indices such as the mean platelet volume (MPV) and platelet distribution width (PDW) are newer hematological parameters, which have been recently reported as clinically valuable biomarkers. However, there ar...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21721
更新日期:2015-01-01 00:00:00
abstract::To investigate the influence of race, cigarette smoking, and immunologic parameters on serum immunoglobulins, we analyzed serum IgG, IgA, and IgM levels in 455 healthy adults. The study population ranged in age from 20 to 69 years, including 282 whites and 173 blacks, 181 never-smokers, 93 ex-smokers, and 181 current ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860090107
更新日期:1995-01-01 00:00:00
abstract::p21, an important regulator of the cell cycle, acts as a mediator of the growth-suppressing and -promoting functions of p53. We aimed to investigate the association between codon 31 polymorphisms of p21 gene and endometriosis. Women were divided into two groups: endometriosis (n = 102) and nonendometriosis (n = 119). ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1025
更新日期:2001-01-01 00:00:00
abstract::Vitamin D plays a vital role not only in bone health but also in pathophysiology of many other body functions. In recent years, there has been significant increase in testing of 25-hydroxyvitamin D (25-OH vitamin D), a marker of vitamin D deficiency. The most commonly used methods for the measurement of 25-OH vitamin ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21530
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:The prevalence of diabetes is increasing in China. Glucose control is very important in diabetic patients. The aim of this study was to compare the accuracy of five glucose meters used in Chinese hospitals with a reference method, in the absence and presence of various factors that may interfere with the met...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21611
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:The human epididymis protein 4 (HE4) may have high specificity in the detection of malignant diseases, making the development of an immunoassay for HE4 essential. METHODS:In our study, a fusion gene was constructed encoded with the HE4 protein. This protein was then produced in the bacterial cells (Escheric...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21906
更新日期:2016-09-01 00:00:00