Abstract:
:Recent progress in the understanding of the pathophysiology of hemostasis has established that blood coagulation disorders causing bleeding or thrombosis often indicate a multi-casual nature in which the interaction between genetic and acquired factors plays a major mechanistic role. The interaction of two or more factors may attenuate clinical symptoms. However, a synergic worsening may also occur, resulting in a higher risk than expected from the combination of the separate effects. The role of genetic factors on the modulation of the phenotypic expression of coagulation disorders will be addressed in this review, with particular emphasis on the underlying pathogenic mechanisms and clinical implications.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Franchini M,Mannucci PMdoi
10.1515/CCLM.2009.331subject
Has Abstractpub_date
2009-01-01 00:00:00pages
1455-60issue
12eissn
1434-6621issn
1437-4331journal_volume
47pub_type
杂志文章,评审abstract::Background The relationship between renal disease and cardiovascular disease (CVD) is currently known as cardiorenal syndrome. Indoxyl sulfate (IS) is one of the uremic toxins that accelerates the progression of cardiorenal syndrome. This report presents a new method for measuring IS in a simpler way. Methods We evalu...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0218
更新日期:2019-10-25 00:00:00
abstract:BACKGROUND:Vitamin B12 deficiency and bone fractures are common in vegetarians. However, a direct relationship between vitamin B12 status and bone metabolism in vegetarians has not been tested sufficiently. METHODS:Our study included 96 vegetarians (23 German vegans, and 54 German and 19 Indian lacto-, lacto-ovo-veget...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2009.302
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Selective serotonin reuptake inhibitors (SSRIs) in general, and citalopram/escitalopram in particular, are widely used to treat clinical depression. However, SSRI bioavailability and non-compliance represent major issues, especially in the clinical trials setting. In this context, frequent drug-level measure...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2007.108
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Cystatin C (CST3), a strong inhibitor of cysteine proteinases, is freely filtered by the kidney glomerulus and is reabsorbed by the tubules, where it is almost totally catabolized, with the remainder then eliminated in urine. In tubular diseases, it seems sensible to postulate that CST3 degradation would be ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.050
更新日期:2006-01-01 00:00:00
abstract::Two reverse transcription-polymerase chain reaction methods to detect the AML1/ETO rearrangement in the M2 subtype of acute myeloid leukaemia those of Downing et al. (Blood 1993; 81: 2860-5) and Satake et al. (Br J Haematol 1995; 91: 892-8) were evaluated. Bone marrow samples, one at diagnosis and two in complete remi...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1998.026
更新日期:1998-03-01 00:00:00
abstract::Circulating tumor cells (CTCs) provide unique information for the management of breast cancer patients, since their detection and monitoring is useful for prognosis, prediction of response to therapy, or monitoring clinical course in patients with localized or metastatic disease. Currently, the most practical applicat...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2011.628
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, Retinitis pigmentosa and probably age-related macular degeneration. METHODS:Screening for mutations in the ABCA4 ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.116
更新日期:2006-01-01 00:00:00
abstract::The variability of the tumor markers cancer antigen (CA) 15.3, carcinoembryonic antigen (CEA) and tissue polypeptide antigen (TPA) during steady state concentrations and the rate of increase during progression is described. One hundred and ninety-two patients were monitored during first-line chemotherapy for metastati...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2000.066
更新日期:2000-05-01 00:00:00
abstract::Adequate volume loading may be the most important step in the treatment of patients with septic shock. Techniques allowing us to achieve and tightly control volume loading and regional perfusion are considered to be helpful. An elevated oxygen delivery may be beneficial in some patients but the increase of oxygen deli...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.1999.056
更新日期:1999-03-01 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
pub_type: 杂志文章
doi:10.1515/CCLM.2011.668
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:EML4-ALK fusion oncogene has emerged as a novel molecular target in non-small cell lung cancer (NSCLC). Although break-apart fluorescent in situ hybridization (FISH) is the standard method for diagnosis, it is expensive, not readily available and sometimes difficult to interpret. In addition, ALK immunohisto...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2013-0044
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:We aimed to investigate the prevalence of undiagnosed abnormal glucose regulation (AGR, including diabetes and prediabetes) in patients undergoing coronary angiography (CAG) by using both glycated hemoglobin (HbA1c) and oral glucose tolerance test (OGTT) to screen, and to compare the performance of fasting p...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0860
更新日期:2015-08-01 00:00:00
abstract::Soluble transferrin receptor (sTfR) is reported to be a reliable marker for the diagnosis of iron deficiency, especially when iron metabolism is influenced by inflammatory disorders such as infection, chronic inflammation and cancer-related anemia. In the present multicenter study the analytical performance of a recen...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2002.091
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:Certain genetic polymorphisms can lead to differences in immunity function, resulting in different clinical outcomes for hepatitis B virus (HBV) patients. The aim of this study was to investigate the association between apolipoprotein E (ApoE) gene polymorphisms and HBV infection status in northern Chinese i...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.354
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Quantification of glycated hemoglobin (HbA1c) is a challenge in patients with hemoglobin (Hb) variants. We evaluated the impact of various Hb variants on five routine HbA1c assays by comparing with the IFCC reference measurement procedure (RMP). METHODS:Whole blood samples showing warning flags or no result...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2016-0865
更新日期:2017-07-26 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
pub_type: 杂志文章
doi:10.1515/CCLM.2003.106
更新日期:2003-05-01 00:00:00
abstract::Surface-enhanced laser desorption time of flight mass spectrometry (SELDI-TOF-MS) is an important proteomic technology that is immediately available for the high throughput analysis of complex protein samples. Over the last few years, several studies have demonstrated that comparative protein profiling using SELDI-TOF...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2007.351
更新日期:2007-01-01 00:00:00
abstract::The clinical usefulness of C-reactive protein (CRP) and of transthyretin (TTR) for the early diagnosis and follow-up of infection after an open fracture was prospectively investigated (cohort A). It was complemented by a retrospective study of trauma patients admitted to an intensive care unit (cohort B). Serial deter...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2002.230
更新日期:2002-12-01 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
pub_type: 杂志文章
doi:10.1515/cclm.2009.080
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Cardiac biomarkers, including cardiac troponin-I (cTn-I) and N-terminal pro brain natriuretic peptide (NT-proBNP) have been associated with poor outcome in hemodialysis (HD) patients. The present study was designed to evaluate these biomarkers as biological risk factors for early and late mortality in HD pat...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0664
更新日期:2013-09-01 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
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2006.136
更新日期:2006-01-01 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
pub_type: 杂志文章
doi:10.1515/CCLM.2011.776
更新日期:2011-11-10 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
pub_type: 杂志文章
doi:10.1515/CCLM.2003.082
更新日期:2003-04-01 00:00:00
abstract::Background Evaluating the tumor RAS/BRAF status is important for treatment selection and prognosis assessment in metastatic colorectal cancer (mCRC) patients. Correction of artifacts from library preparation and sequencing is essential for accurately analyzing circulating tumor DNA (ctDNA) mutations. Here, we assessed...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0142
更新日期:2019-09-25 00:00:00
abstract:BACKGROUND:The appearance of nucleated red blood cells (NRBCs) in peripheral blood is associated with a variety of severe diseases. When NRBCs are detected in blood, this is generally associated with increased mortality. METHODS:In a prospective study, NRBCs and other laboratory parameters were measured daily in the p...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.183
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Haemoglobin (Hb) variants are well-known factors interfering with accurate HbA1c testing. This report describes two novel Hb variants leading to inappropriate quantification of HbA1c by ion-exchange chromatography. METHODS:Glycated forms of novel Hb variants were recognised in the blood of two patients with...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2015-0054
更新日期:2015-08-01 00:00:00
abstract:BACKGROUND:When performed erroneously, the venous blood specimen collection (VBSC) practice steps patient identification, test request management and test tube labeling are at high risk to jeopardize patient safety. VBSC educational programs with the intention to minimize risk of harm to patients are therefore needed. ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2018-0051
更新日期:2018-10-25 00:00:00
abstract::Hepatocellular carcinoma (HCC) is one of the most common causes of cancer-induced death. Somatic mutation of the p53 gene is the most common genetic abnormality so far described in human cancer and there is evidence that supports a high level of p53 alterations in HCC. The aim of this study was to investigate serum le...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.091
更新日期:2006-01-01 00:00:00
abstract::This review evaluates the role of platelets in bleeding risk among patients with hematological disease and thrombocytopenia. Platelets are pivotal in primary hemostasis, and possess non-hemostatic properties involved in angiogenesis, tissue repair, inflammation and metastatis. Also, platelets safeguard vascular integr...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/cclm-2019-0380
更新日期:2019-11-26 00:00:00
abstract:BACKGROUND:Antinuclear autoantibody determination relies on an initial screening step using immunofluorescence on HEp2 cells. This may be followed by anti-deoxyribonucleic acid (DNA) determination, if the fluorescence of nuclei is homogeneous. We assessed the validity of a restricted algorithm and compared this to a mo...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2009.122
更新日期:2009-01-01 00:00:00