De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.

abstract：:Despite many years of study, clinical trials of new drugs to prevent thrombosis have often been disappointing. Part of the problem lies in our incomplete understanding of the regulation of plasminogen activation and/or inhibition in vivo. We have previously shown that in vitro nitration of plasminogen in plasma by per...

journal_title：Clinical chemistry and laboratory medicine

authors： Hathuc C,Hermo R,Schulze J,Gugliucci A

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:The Enhanced Liver Fibrosis (ELF) score combining serum hyaluronan, N-terminal peptide of type III procollagen and tissue inhibitor of metalloproteinase-1, was reported as relevant in predicting liver fibrosis in chronic liver disease and proposed as an alternative to liver biopsy. METHODS:We evaluated the ...

journal_title：Clinical chemistry and laboratory medicine

authors： Guéchot J,Trocmé C,Renversez JC,Sturm N,Zarski JP,ANRS HC EP 23 Fibrostar Study Group.

更新日期：2012-01-13 00:00:00

abstract：:Steroid 21-hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17-hydroxyprogesterone), which results in excessi...

journal_title：Clinical chemistry and laboratory medicine

authors： Concolino P,Mello E,Zuppi C,Capoluongo E

更新日期：2010-08-01 00:00:00

abstract：:Recent studies demonstrated that large amounts of the pro-hormone peptide of brain natriuretic peptide (proBNP) can be detected in plasma of healthy subjects and in particular of patients with heart failure. As a result, a great part of B-type natriuretic peptides measured in patients with cardio-vascular disease may ...

journal_title：Clinical chemistry and laboratory medicine

authors： Clerico A,Vittorini S,Passino C

更新日期：2011-08-26 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：:The aim of this work was to assess the diagnostic value of anti-CCP-3 and anti-CCP-2 for the diagnosis of rheumatoid arthritis (RA) and determine whether anti-CCP-3 more accurately identifies patients with rheumatoid arthritis than anti-CCP-2. PubMed and CNKI databases were searched for studies published in English an...

journal_title：Clinical chemistry and laboratory medicine

authors： Zhang WC,Wu H,Chen WX

更新日期：2014-06-01 00:00:00

abstract：:Circulating blood platelets play a central role in the maintenance of hemostasis. They adhere to subendothelial extracellular matrix proteins that become exposed upon vessel wall damage, which is followed by platelet activation, further platelet recruitment, platelet aggregation and formation of an occlusive, or non-o...

journal_title：Clinical chemistry and laboratory medicine

authors： Provost P

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:The use of laboratory tests has been increasing in recent years due to various factors affecting laboratories, physicians, legal aspects, or patients themselves. METHODS:The efficacy of laboratory tests must be evaluated on the basis of the clinical benefits that they provide in terms of prevention, diagnos...

journal_title：Clinical chemistry and laboratory medicine

authors： Alonso-Cerezo MC,Martín JS,García Montes MA,de la Iglesia VM

更新日期：2009-01-01 00:00:00

abstract：:Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder of the pluripotent stem cell resulting from the somatic mutation of the X-linked PIG-A gene, involved in the synthesis of the glycosylphosphatidyl-inositol anchor of membrane proteins such as CD55, CD59 and CD14. In the past decade, flow cytometry has b...

journal_title：Clinical chemistry and laboratory medicine

authors： Hevessy Z,Nagy B Jr,Kiss F,Kiss A,Kappelmayer J

更新日期：2005-01-01 00:00:00

abstract：BACKGROUND:Chagas disease is endemic in Latin America, affecting 16-18 million people with more than 100 million exposed to risk of infection. Its etiological agent is Trypanosoma cruzi. To date, benznidazole is the only treatment of Chagas disease available in Europe. METHODS:A high-performance reversed-phase isocrat...

journal_title：Clinical chemistry and laboratory medicine

authors： Guerrero L,Pinazo MJ,Posada E,Gascón J,Ribas J,Soy D

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:It has been proposed that only anti-thyroid-peroxidase (TPOAb) and not anti-thyroglobulin (TgAb) antibodies should be assayed in the diagnosis of autoimmune thyroid disease (AITD). METHODS:We analyzed the thyroid autoantibody profile with a multiplex bead array system, which allows simultaneous measurement ...

journal_title：Clinical chemistry and laboratory medicine

authors： Tozzoli R,Villalta D,Kodermaz G,Bagnasco M,Tonutti E,Bizzaro N

更新日期：2006-01-01 00:00:00

abstract：:We developed a time-resolved-fluoro-immunoassay to measure cortisol binding globulin (CBG) in serum. It is a microtitre plate, solid phase, reagent excess, sandwich assay in which the same polyclonal antiserum is used as a source of capture and labeled antibodies. The results of this assay were shown to be reliable an...

journal_title：Clinical chemistry and laboratory medicine

authors： Bonte HA,van den Hoven RJ,van der Sluijs Veer G,Vermes I

更新日期：1999-02-01 00:00:00

abstract：BACKGROUND:The measurement of C-reactive protein (CRP) concentrations has been of interest as a classical marker of acute phase response; in addition, it has been of particular interest in cardiovascular risk stratification where high-sensitive measurements are necessary. Since CRP is able to bind phospholipids (mainly...

journal_title：Clinical chemistry and laboratory medicine

authors： Drieghe SA,Alsaadi H,Tugirimana PL,Delanghe JR

更新日期：2014-06-01 00:00:00

abstract：:Automation is considered one of the most important breakthroughs in the recent history of laboratory diagnostics. In a model of total laboratory automation (TLA), many analyzers performing different types of tests on different sample matrices are physically integrated as modular systems or physically connected by asse...

journal_title：Clinical chemistry and laboratory medicine

authors： Lippi G,Da Rin G

更新日期：2019-05-27 00:00:00

abstract：:Cryoglobulins are proteins that precipitate at temperatures below 37 degrees C. Cold-induced precipitation of proteins may occur in vivo secondary to several important diseases, and lead to pathological manifestations involving different organs. Cryoprecipitation may be observed in vitro by exposing serum samples, sup...

journal_title：Clinical chemistry and laboratory medicine

authors： Di Stasio E,Bizzarri P,Bove M,Casato M,Giardina B,Fiorilli M,Galtieri A,Pucillo LP

更新日期：2003-02-01 00:00:00

abstract：BACKGROUND:Thrombopoietin (TPO), a growth factor primarily involved in regulating thrombopoiesis, has been recently implicated in the pathogenesis of sepsis. TPO levels are, indeed, greatly increased in patients with sepsis compared to control subjects, and correlate with sepsis severity. The aim of this study was to e...

journal_title：Clinical chemistry and laboratory medicine

authors： Segre E,Pigozzi L,Lison D,Pivetta E,Bosco O,Vizio B,Suppo U,Turvani F,Morello F,Battista S,Moiraghi C,Montrucchio G,Lupia E

更新日期：2014-10-01 00:00:00

abstract：BACKGROUND:Mid-regional pro-adrenomedullin (MR-proADM) and endothelin-1 have been shown to predict mortality of patients with acute myocardial infarction. However, the prognostic value of both biomarkers in predicting long-term clinical events after acute myocardial infarction remains unclear. METHODS:In a prospective...

journal_title：Clinical chemistry and laboratory medicine

authors： Behnes M,Papassotiriou J,Walter T,Fiedler E,Sauer T,Lang S,Elmas E,Hoffmann U,Borggrefe M,Brueckmann M

更新日期：2008-01-01 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：:In our efforts to develop diagnostic tests for complex multifactorial disorders, and to assist the research community in evaluating genetic markers for predisposition to cardiovascular disease, we have developed a prototype assay to genotype up to 35 variable sites among 15 genes. The candidate markers in this panel w...

journal_title：Clinical chemistry and laboratory medicine

authors： Cheng S,Pallaud C,Grow MA,Scharf SJ,Erlich HA,Klitz W,Pullinger CR,Malloy MJ,Kane JP,Siest G,Visvikis S

更新日期：1998-08-01 00:00:00

abstract：BACKGROUND:Aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT) measurements are important for the assessment of liver damage. The aim of this study was to define the reference intervals (RIs) for these enzymes in adults, paying attention to standardization of the methods us...

journal_title：Clinical chemistry and laboratory medicine

authors： Ceriotti F,Henny J,Queraltó J,Ziyu S,Özarda Y,Chen B,Boyd JC,Panteghini M,IFCC Committee on Reference Intervals and Decision Limits (C-RIDL).,Committee on Reference Systems for Enzymes (C-RSE).

更新日期：2010-11-01 00:00:00

abstract：:There is evidence that angiogenesis plays an important role in the progression of multiple myeloma (MM). Hepatocyte growth factor (HGF) and tumor necrosis factor-alpha (TNF-alpha) are cytokines that potently stimulate angiogenesis. We evaluated the microvascular density (MVD) of bone marrow biopsies (after immunostain...

journal_title：Clinical chemistry and laboratory medicine

authors： Alexandrakis MG,Passam FJ,Ganotakis E,Dafnis E,Dambaki C,Konsolas J,Kyriakou DS,Stathopoulos E

更新日期：2004-01-01 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

authors： Serebruany V,Malinin A,Dragan V,Atar D,van Zyl L,Dragan A,Lexapro Compliance Task Force.

更新日期：2007-01-01 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:The knowledge of physiological fluctuation and variation of even commonly used biochemical quantities in extreme age groups and during development is sparse. This challenges the clinical interpretation and utility of laboratory tests in these age groups. To explore the utility of hospital laboratory data as ...

journal_title：Clinical chemistry and laboratory medicine

authors： Søeby K,Jensen PB,Werge T,Sørensen S

更新日期：2015-09-01 00:00:00

abstract：BACKGROUND:Cytochrome P450 3A5 (CYP3A5) and ABCB1 polymorphisms have been shown to influence tacrolimus (Tc) blood concentrations in the stable phase after organ transplantation. We hypothesized that Tc pharmacokinetics may be affected by genetic mutations subsequent to starting doses. METHODS:We retrospectively analy...

journal_title：Clinical chemistry and laboratory medicine

authors： Mourad M,Wallemacq P,De Meyer M,Brandt D,Van Kerkhove V,Malaise J,Chaïb Eddour D,Lison D,Haufroid V

更新日期：2006-01-01 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：:Background Intravascular hemolysis and in vitro hemolysis are prevalent contributors to failed blood sample analysis in the routine hospital laboratory. Interferences by hemoglobin in spectrophotometric and certain enzyme activity assays is the major causative factor. Methods By exploiting the hemoglobin-binding prope...

journal_title：Clinical chemistry and laboratory medicine

authors： Sæderup KL,Revsholm J,Richardt PB,Christiansen SH,Hennig D,Moestrup SK,Graversen JH

更新日期：2019-10-25 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

authors： Fogazzi GB,Secchiero S,Garigali G,Plebani M

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:To prospectively evaluate the role of procalcitonin (PCT) in detecting or excluding medullary thyroid carcinoma (MTC) among patients with thyroid nodules and increased calcitonin (CT) levels. METHODS:Fourteen of 1236 patients referred for thyroid nodules had increased serum CT >10 pg/mL. A stimulation test ...

journal_title：Clinical chemistry and laboratory medicine

authors： Giovanella L,Verburg FA,Imperiali M,Valabrega S,Trimboli P,Ceriani L

更新日期：2013-07-01 00:00:00

abstract：:Many limitations and conflicting results have cast serious doubts on the validity of cerebrospinal fluid tau and Abeta42 levels for the biological diagnosis of Alzheimer's disease, particularly extreme variations of the reference limits found by unrelated groups as a consequence of different reference populations used...

journal_title：Clinical chemistry and laboratory medicine

authors： Burkhard PR,Fournier R,Mermillod B,Krause KH,Bouras C,Irminger I

更新日期：2004-04-01 00:00:00