The Human Genome Project: from mapping to sequencing.

abstract：BACKGROUND:An E670G polymorphism of the exon 12 of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene was recently found to be associated with increased plasma low-density lipoprotein cholesterol (LDL-C) levels and severity of coronary atherosclerosis. This case-control study tested for a possible link betw...

journal_title：Clinical chemistry and laboratory medicine

authors： Hsu LA,Teng MS,Ko YL,Chang CJ,Wu S,Wang CL,Hu CF

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:An effective quality control (QC) program requires the establishment of control limits within which the results of the QC sample is expected to fall. Traditionally, the mean plus/minus two standard deviations calculated for a set of QC sample results is used to establish control limits. Allowable total error...

journal_title：Clinical chemistry and laboratory medicine

authors： Dimech W,Vincini G,Karakaltsas M

更新日期：2015-02-01 00:00:00

abstract：:The research into non-invasive and invasive prenatal diagnostic techniques developed almost in parallel. On the one hand the need was arising to ensure the birth of normal progeny in all cases, while on the other, it was not possible to eliminate the abortion risks connected with the invasiveness of amniocentesis (ris...

journal_title：Clinical chemistry and laboratory medicine

authors： Torricelli F,Pescucci C

更新日期：2001-06-01 00:00:00

abstract：BACKGROUND:High-dose biotin therapy is beneficial in progressive multiple sclerosis (MS) and is expected to be adopted by a large number of patients. Biotin therapy leads to analytical interference in many immunoassays that utilize streptavidin-biotin capture techniques, yielding skewed results that can mimic various e...

journal_title：Clinical chemistry and laboratory medicine

authors： Piketty ML,Prie D,Sedel F,Bernard D,Hercend C,Chanson P,Souberbielle JC

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:EGFR mutation is an emerging biomarker for treatment selection in non-small-cell lung cancer (NSCLC) patients. However, optimal mutation detection is hindered by complications associated with the biopsy procedure, tumor heterogeneity and limited sensitivity of test methodology. In this study, we evaluated th...

journal_title：Clinical chemistry and laboratory medicine

authors： Shin S,Kim J,Kim Y,Cho SM,Lee KA

更新日期：2017-10-26 00:00:00

abstract：:Both technological advances and economic drivers have led to major changes in clinical laboratories across the world, with vastly improved testing productivity. However, the production process capability advances have far outpaced the clinical pathologists' success in assuring optimal test utilization and interpretati...

journal_title：Clinical chemistry and laboratory medicine

authors： Blanckaert N

更新日期：2010-07-01 00:00:00

abstract：BACKGROUND:The biochemical determination of cardiac natriuretic peptides, primarily brain natriuretic peptide (BNP) and the amino-terminal fragment of its pro-hormone proBNP (NT-proBNP), are reliable tools for diagnosing cardiac disease, establishing prognosis and evaluating the effectiveness of treatment. These biomar...

journal_title：Clinical chemistry and laboratory medicine

authors： Zaninotto M,Mion MM,Di Serio F,Caputo M,Ottomano C,Plebani M

更新日期：2010-07-01 00:00:00

abstract：BACKGROUND:Iodine requirements increase during pregnancy and previous studies have reported the inadequate iodine status of pregnant women in areas that have achieved iodine sufficiency in the general population. We examined the urinary iodine (UI) concentrations of pregnant women in Ukraine, where the iodine status is...

journal_title：Clinical chemistry and laboratory medicine

authors： Sekitani Y,Hayashida N,Takahashi J,Kozlovsky AA,Rudnitskiy S,Petrova A,Gutevych OK,Chorniy SA,Yamashita S,Takamura N

更新日期：2013-04-01 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

authors： Plebani M

更新日期：2013-04-01 00:00:00

abstract：BACKGROUND:Although many reports have elucidated pathophysiological characteristics of abnormal bone metabolism in patients with type 2 diabetes mellitus (DT2), determinants of bone mineral density (BMD) in patients with DT2 are still controversial. METHODS:We examined 168 Belarussian men 45-60 years of age. Plasma to...

journal_title：Clinical chemistry and laboratory medicine

authors： Vasilkova O,Mokhort T,Sanec I,Sharshakova T,Hayashida N,Takamura N

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Angiotensin II is produced primarily by angiotensin I-converting enzyme (ACE) within atherosclerotic lesions and ACE level in plaques correlates with the severity of vessel wall damage. Therefore, we investigated the possible association of ACE gene insertion/deletion (I/D) polymorphism and the severity of a...

journal_title：Clinical chemistry and laboratory medicine

authors： Niemiec P,Zak I,Wita K

更新日期：2008-01-01 00:00:00

abstract：:Modifications in lipoprotein lipase levels lead to elevated triglycerides and reduced high density lipoprotein (HDL), both of which are risk factors for coronary artery disease (CAD). Hence, we examined the influence of the -93T/G, D9N, N291S, and S447X polymorphisms in the lipoprotein lipase (LPL) gene on CAD risk an...

journal_title：Clinical chemistry and laboratory medicine

authors： Ferencak G,Pasalić D,Grsković B,Cheng S,Fijal B,Sesto M,Skodlar J,Rukavina AS

更新日期：2003-04-01 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

authors： Arzideh F,Wosniok W,Haeckel R

更新日期：2011-04-01 00:00:00

abstract：:Objectives Our recent survey of 44 mass spectrometry laboratories across 17 countries identified variation in internal standard (IS) choice for the measurement of serum/plasma 17α-hydroxyprogesterone (17OHP) by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The choice of IS may contribute to inter-method v...

journal_title：Clinical chemistry and laboratory medicine

authors： Loh TP,Ho CS,Hartmann MF,Zakaria R,Lo CWS,van den Berg S,de Rijke YB,Cooke BR,Hoad K,Graham P,Davies SR,Mackay LG,Wudy SA,Greaves RF

更新日期：2020-09-25 00:00:00

abstract：:Most studies of the relation between psychological performance in the elderly and deficiencies of cobalamin and folate have used methods that determine the blood concentrations of these vitamins, which might not reflect the vitamin status in the tissues. Recently, two new markers, plasma homocysteine and methylmalonic...

journal_title：Clinical chemistry and laboratory medicine

authors： Hultberg B,Jensen E,Dehlin O,Hagberg B,Samuelsson G,Svensson T

更新日期：1999-10-01 00:00:00

abstract：:A body of evidence has been accumulated to demonstrate that current practice is not sufficiently safe for several stages of central laboratory testing. In particular, while analytical and perianalytical steps that take place within the laboratory are subjected to quality control procedures, this is not the case for se...

journal_title：Clinical chemistry and laboratory medicine

authors： Kay J

更新日期：2006-01-01 00:00:00

abstract：:Gestational diabetes mellitus (GDM) is defined as carbohydrate intolerance during pregnancy. In Denmark the health service offers selective screening for GDM, i.e., admission to an oral glucose tolerance test (OGTT) after pre-screening with interview for clinical risk factors for GDM, two capillary fasting blood gluco...

journal_title：Clinical chemistry and laboratory medicine

authors： Schytte T,Jørgensen LG,Brandslund I,Petersen PH,Andersen B

更新日期：2004-01-01 00:00:00

abstract：:Winning a Nobel Prize is a great personal achievement. Some Nobel laureates may consider that their award is a certificate of competence in any field. This may prompt them to undertake projects or accept positions which are beyond their capabilities. Since Nobels are awarded when the laureates have usually passed thei...

journal_title：Clinical chemistry and laboratory medicine

authors： Diamandis EP

更新日期：2013-08-01 00:00:00

abstract：BACKGROUND:In chronic kidney diseases of various etiologies, the urinary excretion of uromodulin is usually decreased in parallel with the glomerular filtration rate. This study aimed to investigate whether serum uromodulin is associated with kidney function. METHODS:Within the framework of the Seniorlabor study, a su...

journal_title：Clinical chemistry and laboratory medicine

authors： Risch L,Lhotta K,Meier D,Medina-Escobar P,Nydegger UE,Risch M

更新日期：2014-12-01 00:00:00

abstract：:Venous blood sampling (phlebotomy) is the most common invasive procedure performed in patient care. Guidelines on the correct practice of phlebotomy are available, including the H3-A6 guideline issued by the Clinical Laboratory Standards Institute (CLSI). As the quality of practices and procedures related to venous bl...

journal_title：Clinical chemistry and laboratory medicine

authors： van Dongen-Lases EC,Cornes MP,Grankvist K,Ibarz M,Kristensen GB,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：2016-07-01 00:00:00

abstract：:The non-forage feeding of dairy cows rich in fast absorption carbohydrates, the low value of their euglycemic-hyperinsulinemic clamp suggest a dysregulation of carbohydrate metabolism able to produce neurodegenerative disorders. Comparisons between Alzheimer's disease developed in diabetes mellitus and bovine spongifo...

journal_title：Clinical chemistry and laboratory medicine

authors： Frey J

更新日期：2002-02-01 00:00:00

abstract：BACKGROUND:Laboratory reference intervals are not necessarily reflecting the range in the background population. This study compared creatine kinase (CK) reference intervals calculated from a large sample from a Norwegian population with those elaborated by the Nordic Reference Interval Project (NORIP). It also assesse...

journal_title：Clinical chemistry and laboratory medicine

authors： Lilleng H,Johnsen SH,Wilsgaard T,Bekkelund SI

更新日期：2011-11-10 00:00:00

abstract：BACKGROUND:Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is...

journal_title：Clinical chemistry and laboratory medicine

authors： Odgerel Z,van der Ven PF,Fürst DO,Goldfarb LG

更新日期：2010-10-01 00:00:00

abstract：:The erythrocyte sedimentation rate (ESR), now more appropriately referred to as the "length of sedimentation reaction in blood (LSRB)", remains the most widely used laboratory test for monitoring the course of infections, inflammatory diseases and some types of cancer. Thanks to the several recently developed methods ...

journal_title：Clinical chemistry and laboratory medicine

authors： Piva E,Fassina P,Plebani M

更新日期：2002-07-01 00:00:00

abstract：:Measurement of total homocysteine (tHcy) in healthy and diseased children has documented the utility of this marker in pediatric research and diagnostics. This article focuses on novel data obtained in infants, children and adolescents, with emphasis on cobalamin status in infants. In children, determinants of plasma ...

journal_title：Clinical chemistry and laboratory medicine

authors： Ueland PM,Monsen AL

更新日期：2003-11-01 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

authors： Cao Y,Cheng M,Hu C

更新日期：2012-12-01 00:00:00

abstract：BACKGROUND:Surface-enhanced laser desorption and ionization time-of-flight mass spectrometry (SELDI-TOF/MS), a laboratory-friendly technique, is used to identify biomarkers for cancer. The aim of the present study was to explore the application of SELDI proteomic patterns in serum for distinguishing between cases of pa...

journal_title：Clinical chemistry and laboratory medicine

authors： Navaglia F,Fogar P,Basso D,Greco E,Padoan A,Tonidandel L,Fadi E,Zambon CF,Bozzato D,Moz S,Seraglia R,Pedrazzoli S,Plebani M

更新日期：2009-01-01 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 The aim of this study was to evaluate the diagnostic performance of cerebrospinal fluid (CSF) free light chains (FLCs) in the diagnosis of Lyme neuroborreliosis (LNB). Methods Serum and CSF levels of κ- and λ-FLC, albumin and total concentration of immunoglobulin M (IgM) were determined together with CSF ch...

journal_title：Clinical chemistry and laboratory medicine

authors： Tjernberg I,Johansson M,Henningsson AJ

更新日期：2019-11-26 00:00:00

abstract：BACKGROUND:The Sysmex DI-60 system (DI-60, Sysmex, Kobe, Japan) is a new automated digital cell imaging analyzer. We explored the performance of DI-60 in comparison with Sysmex XN analyzer (XN, Sysmex) and manual count. METHODS:In a total of 276 samples (176 abnormal and 100 normal samples), white blood cell (WBC) dif...

journal_title：Clinical chemistry and laboratory medicine

authors： Kim HN,Hur M,Kim H,Kim SW,Moon HW,Yun YM

更新日期：2017-11-27 00:00:00