Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.

abstract：BACKGROUND:Fibrinogen-based clot firmness is reported as the maximum amplitude (MA) when using the citrated functional fibrinogen (CFF) assay in thrombelastography (TEG), and as the maximum clot firmness (MCF) together with several clot amplitude parameters when using the FIBTEM assay in thromboelastometry (ROTEM). Con...

journal_title：Clinical chemistry and laboratory medicine

authors： Prüller F,Münch A,Preininger A,Raggam RB,Grinschgl Y,Krumnikl J,Toller W,Metzler H,Mahla E,Mangge H

更新日期：2016-03-01 00:00:00

abstract：BACKGROUND:Hyperhomocysteinemia is a risk factor for ischemic heart disease. Several other mechanisms apply also to dilative types of heart failure of various, non-ischemic etiologies. We hypothesized that hyperhomocysteinemia is associated with left ventricular (LV) dilatation and hypertrophy in dilative cardiomyopath...

journal_title：Clinical chemistry and laboratory medicine

authors： Alter P,Rupp H,Rominger MB,Figiel JH,Renz H,Klose KJ,Maisch B

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:The European Society for Pediatric Gastroenterology and Nutrition states that if IgA anti-tissue transglutaminase (tTG) exceeds 10 times the upper limit of normal (ULN), there is the possibility to diagnose celiac disease (CD) without duodenal biopsy, if supported by anti-endomysium testing and human leukocy...

journal_title：Clinical chemistry and laboratory medicine

authors： Oyaert M,Vermeersch P,De Hertogh G,Hiele M,Vandeputte N,Hoffman I,Bossuyt X

更新日期：2015-09-01 00:00:00

abstract：BACKGROUND:Gestational age-specific reference values are essential for the accurate interpretation of haemostatic tests during pregnancy. METHODS:Our 1-year prospective study included 40 healthy pregnant women with a median age of 30 (range 22-40) years; the subjects were followed in order to establish the gestational...

journal_title：Clinical chemistry and laboratory medicine

authors： Kovac MK,Lalic-Cosic SZ,Dmitrovic JM,Djordjevic VJ,Radojkovic DP

更新日期：2015-11-01 00:00:00

abstract：BACKGROUND:Apolipoprotein E (APOE) is a key player in lipid transport and metabolism and exists in three common isoforms: APOE2, APOE3 and APOE4. The presence of the E4 allelic variant is recognized as a major genetic risk factor for dementia and other chronic (neuro)degenerative diseases. The availability of a validat...

journal_title：Clinical chemistry and laboratory medicine

authors： Badrnya S,Doherty T,Richardson C,McConnell RI,Lamont JV,Veitinger M,FitzGerald SP,Zellner M,Umlauf E

更新日期：2018-04-25 00:00:00

abstract：:Removal of low molecular weight proteins from plasma by kidneys depends on glomerular filtration rate (GFR), protein-glomerular membrane electric charge, steric interactions and a number of functionally active nephrons present in the kidneys. There is a well documented relationship between the concentration of low mol...

journal_title：Clinical chemistry and laboratory medicine

authors： Naskalski J,Anyszek T,Surdacka E,Hoyer B,Sulowicz W

更新日期：2004-03-01 00:00:00

abstract：:Betaine serves as a methyl donor in a reaction converting homocysteine to methionine, catalysed by the enzyme betaine-homocysteine methyltransferase. It has been used for years to lower the concentration of plasma total homocysteine (tHcy) in patients with homocystinuria, and has recently been shown to reduce fasting ...

journal_title：Clinical chemistry and laboratory medicine

authors： Ueland PM,Holm PI,Hustad S

更新日期：2005-01-01 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

authors： Herrmann M,Herrmann W

更新日期：2004-01-01 00:00:00

abstract：Background:Liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assays are employed in more and more clinical laboratories to quantify steroids. The steroid quantification by LC-MS/MS shows great value in screening or diagnosing endocrine disorders; however, the number of functional steroids included in the ...

journal_title：Clinical chemistry and laboratory medicine

authors： Wang Z,Wang H,Peng Y,Chen F,Zhao L,Li X,Qin J,Li Q,Wang B,Pan B,Guo W

更新日期：2020-02-21 00:00:00

abstract：:Objectives Cerebrospinal fluid (CSF) is a clear, colorless body fluid filling the central nervous system. The determination of the CSF total protein (TP) content represents an important screening test of various pathologies. We aimed to address the effect of sex and age on CSF-TP content and the use of the current upp...

journal_title：Clinical chemistry and laboratory medicine

authors： Castellazzi M,Pizzicotti S,Lombardo I,Alfiero S,Morotti A,Pellegatti P,Negri G,Natali L,Ferri C,Fainardi E,Bellini T,Pugliatti M

更新日期：2020-10-25 00:00:00

abstract：:Protein-coding genes comprise only 3% of the human genome, while the genes that are transcribed into RNAs but do not code for proteins occupy majority of the genome. Once considered as biological darker matter, non-coding RNAs are now being recognized as critical regulators in cancer genome. Among the many types of no...

journal_title：Clinical chemistry and laboratory medicine

authors： Ling H,Girnita L,Buda O,Calin GA

更新日期：2017-05-01 00:00:00

abstract：:For several decades, researchers have been investigating the relations between the consumption of Maillard reaction products (MRPs) and biological activities, whether harmful or beneficial. Interest in this area is growing because the intake of these compounds has increased in parallel with the consumption of thermall...

journal_title：Clinical chemistry and laboratory medicine

authors： Delgado-Andrade C

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Cardiac troponins currently represent the preferred biomarkers for the detection of myocardial necrosis. The objective of the present study was to compare the performance of the Access AccuTnl assay (Beckman Coulter) measured on two different platforms, the UniCel Dxl 800 and the Access 2 (Beckman Coulter). ...

journal_title：Clinical chemistry and laboratory medicine

authors： Zaninotto M,Mion MM,Novello E,Moretti M,Delprete E,Rocchi MB,Sisti D,Plebani M

更新日期：2009-01-01 00:00:00

abstract：:Method comparisons are indispensable tools for the extensive validation of analytic procedures. Laboratories often only want to know whether an established procedure (x-method) can be replaced by another one (y-method) without interfering with diagnostic purposes. Then split patients' samples are analyzed more or less...

journal_title：Clinical chemistry and laboratory medicine

authors： Haeckel R,Wosniok W,Al Shareef N

更新日期：2011-11-01 00:00:00

abstract：BACKGROUND:Mutations in BRCA1 and BRCA2 genes are associated with family predisposition to breast and ovarian cancer. Novel screening methods are required for efficient and rapid detection of sequence variants in cancer patients and their family members. METHODS:The screening for variants in the breast and ovarian can...

journal_title：Clinical chemistry and laboratory medicine

authors： Cvok ML,Cretnik M,Musani V,Ozretic P,Levanat S

更新日期：2008-01-01 00:00:00

abstract：BACKGROUND:Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India. METHODS:Newborn bab...

journal_title：Clinical chemistry and laboratory medicine

authors： Upadhye DS,Jain DL,Trivedi YL,Nadkarni AH,Ghosh K,Colah RB

更新日期：2014-12-01 00:00:00

abstract：BACKGROUND:The new swine influenza (H1N1) requires fast and accurate diagnosis. Currently, there are few reports about the diagnostic performance of influenza antigen tests with regard to the H1N1 virus infection. We evaluated the reactivity of eight commercially available rapid antigen tests in samples from confirmed ...

journal_title：Clinical chemistry and laboratory medicine

authors： Herzum I,Lutz T,Koch F,Geisel R,Gehrt A

更新日期：2010-01-01 00:00:00

abstract：Objectives:External quality assessment schemes (EQAS) are being established worldwide to support the faecal immunochemical test (FIT) for haemoglobin (Hb). FIT is widely used as a screening test for colorectal cancer and increasingly in assessment of patients presenting with symptoms. EQA for FIT is provided in several...

journal_title：Clinical chemistry and laboratory medicine

authors： O'Driscoll S,Piggott C,Bruce H,Benton SC

更新日期：2020-08-07 00:00:00

abstract：:Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII. This X-linked recessive disorder occurs in approximately 1:5000 males. Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and redu...

journal_title：Clinical chemistry and laboratory medicine

authors： Castaldo G,D'Argenio V,Nardiello P,Zarrilli F,Sanna V,Rocino A,Coppola A,Di Minno G,Salvatore F

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:The European Directive 98/79/EC on in-vitro diagnostic medical devices (IVDs) regulates IVD marketing practices and post-market surveillance. IVD manufacturers have to inform the responsible Competent Authorities of any issues. In Germany, the Federal Institute for Drugs and Medical Devices (BfArM) is respon...

journal_title：Clinical chemistry and laboratory medicine

authors： Siekmeier R,Lütz J

更新日期：2007-01-01 00:00:00

abstract：:The use of highly sensitive immunometric methods in clinical laboratories to assay anti-thyroid antibodies has progressively expanded in recent years but it is not known whether the new techniques have improved the analytical variability connected with the preceding methodologies. The Italian Society of Laboratory Med...

journal_title：Clinical chemistry and laboratory medicine

authors： Tozzoli R,Bizzaro N,Tonutti E,Pradella M,Manoni F,Vilalta D,Bassetti D,Piazza A,Rizzotti P,Italian Society of Laboratory Medicine (SIMeL) Study Group on the Laboratory Diagnosis of Autoimmune Diseases.

更新日期：2002-06-01 00:00:00

abstract：:Translational research and translational medicine (referred to hereafter as translational research) are interchangeable terms that underline the pressing need to translate into practical benefits for those affected by disease the extensive investments divested by the private and public sectors in biomedical research. ...

journal_title：Clinical chemistry and laboratory medicine

authors： Plebani M,Marincola FM

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:The stability limit of an analyte in a biological sample can be defined as the time required until a measured property acquires a bias higher than a defined specification. Many studies assessing stability and presenting recommendations of stability limits are available, but differences among them are frequen...

journal_title：Clinical chemistry and laboratory medicine

authors： Gómez Rioja R,Martínez Espartosa D,Segovia M,Ibarz M,Llopis MA,Bauça JM,Marzana I,Barba N,Ventura M,García Del Pino I,Puente JJ,Caballero A,Gómez C,García Álvarez A,Alsina MJ,Álvarez V

更新日期：2018-10-25 00:00:00

abstract：:Measurement of S-100B protein in serum or cerebrospinal fluid is increasingly used as a molecular marker of brain damage. However, there is no information about the pre-analytical in vitro stability of S-100B. We have investigated whether storing blood samples at different time periods and conditions affected the meas...

journal_title：Clinical chemistry and laboratory medicine

authors： Raabe A,Kopetsch O,Gross U,Zimmermann M,Gebhart P

更新日期：2003-05-01 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

authors： Puehringer H,Najmabadi H,Law HY,Krugluger W,Viprakasit V,Pissard S,Baysal E,Taher A,Farra C,Al-Ali A,Al-Ateeq S,Oberkanins C

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:The aim of this study was to provide inter-laboratory imprecision comparisons of different groups of diagnostic systems as well as a comparison of professional laboratories with medical offices performance on the basis of 88,429 glucose results obtained in external quality assessment (EQA) schemes organized ...

journal_title：Clinical chemistry and laboratory medicine

authors： Morandi PA,Deom A,Kesseler D,Cohen R

更新日期：2010-09-01 00:00:00

abstract：:A questionable scientific approach to measuring at low concentrations and inappropriate censoring of results below certain cut-offs have resulted in the dichotomous classification of troponin assays based on their so-called analytical sensitivity. The definition of "high-sensitivity" cardiac troponin is flawed. Eviden...

journal_title：Clinical chemistry and laboratory medicine

authors： Ungerer JPJ,Pretorius CJ

更新日期：2017-10-26 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

authors： Cornes M,van Dongen-Lases E,Grankvist K,Ibarz M,Kristensen G,Lippi G,Nybo M,Simundic AM,Working Group for Preanalytical Phase (WG-PRE), European Federation of Clinical Chemistry and Laboratory Medicine (EFLM).

更新日期：2017-01-01 00:00:00

abstract：:We discovered a hitherto undescribed insertion/deletion (I/D) polymorphism of 7 base pairs in intron 4 of the HP1 allele and intron 4 and 6 of the HP2 allele. Genotyping was performed in 311 Belgian subjects. The association between serum haptoglobin (Hp) and lipid concentrations and the Hp I/D genotypes was investiga...

journal_title：Clinical chemistry and laboratory medicine

authors： Wuyts B,Hetet G,Grandchamp B,Delanghe JR

更新日期：2002-05-01 00:00:00

abstract：BACKGROUND:The objective of the work was to study the manifestations of antiphospholipid syndrome (APS) in the Chinese population, and evaluate the ability of lupus anticoagulant (LAC) assays to identify APS. METHODS:Consecutive patients with APS from 2012 to 2015 in our hospital were recruited, strictly following the...

journal_title：Clinical chemistry and laboratory medicine

authors： Tang N,Sun Z,Yin S

更新日期：2016-11-01 00:00:00