Translating exome sequencing from research to clinical diagnostics.

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：:Age-related macular degeneration (AMD) is a sight threatening eye disease that affects millions of humans over the age of 65 years. It is considered to be the major cause of irreversible blindness in the elderly population in the developed world. The disease is prevalent in Europe and the United States, which has a la...

journal_title：Clinical chemistry and laboratory medicine

authors： Kokotas H,Grigoriadou M,Petersen MB

更新日期：2011-04-01 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：BACKGROUND:The calibration of Jaffe method for serum creatinine using one serum-based standard complemented with artificial matrix compensating standard's Jaffe-interfering substances allows two-point calibration with results well comparable with enzymatic methods. METHOD:Spectrophotometry was used. RESULTS:Jaffe pro...

journal_title：Clinical chemistry and laboratory medicine

authors： Chromý V,Rozkosná K,Sedlák P

更新日期：2008-01-01 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：:Although prostate-specific antigen (PSA), or human kallikrein 3, is the most valuable tool available for the diagnosis and management of prostate cancer, as currently used it is insufficiently sensitive and specific for early detection or staging of the malignancy. Many new concepts have been introduced in order to op...

journal_title：Clinical chemistry and laboratory medicine

authors： Daher R,Beaini M

更新日期：1998-09-01 00:00:00

abstract：BACKGROUND:Squamous cell carcinoma antigen-immunoglobulin M (SCCA-IgM) is a useful biomarker for the risk of development of hepatocellular carcinoma (HCC) in patients with cirrhosis due to its progressive increase associated to HCC evolution. In patients with cirrhosis, other assays have been affected by interfering re...

journal_title：Clinical chemistry and laboratory medicine

authors： Zuin J,Veggiani G,Pengo P,Gallotta A,Biasiolo A,Tono N,Gatta A,Pontisso P,Toth R,Cerin D,Frecer V,Meo S,Gion M,Fassina G,Beneduce L

更新日期：2010-02-01 00:00:00

abstract：BACKGROUND:Detection of systemic sclerosis-associated autoantibodies (SSc-Ab) is mostly restricted to anti-centromere and anti-topoisomerase-I. However, anti-RNA-polymerase-III and anti-PM/Scl are also important diagnostic markers for the disease supporting their incorporation in the laboratory repertoire. The aim of t...

journal_title：Clinical chemistry and laboratory medicine

authors： Bonroy C,Smith V,Van Steendam K,Van Praet J,Deforce D,Devreese K,De Keyser F

更新日期：2013-11-01 00:00:00

abstract：Background:Anti-mitochondrial autoantibodies (AMA) detected by indirect immunofluorescence (IIF) on rodent tissues are the diagnostic marker of primary biliary cholangitis (PBC). However, up to 15% of patients with PBC are AMA-negative by IIF. In the effort to close the serological gap and improve the diagnostic sensit...

journal_title：Clinical chemistry and laboratory medicine

authors： Villalta D,Seaman A,Tiongson M,Warren C,Bentow C,Bizzaro N,Alessio MG,Porcelli B,Norman GL,Mahler M

更新日期：2020-04-10 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：BACKGROUND:Chronic atrophic gastritis (CAG) is a precursor of the intestinal type of gastric cancer, the second leading cause of cancer-related death worldwide. GastroPanel is a recently marketed serological kit for the non-invasive diagnosis of CAG, defined by some authors "even more reliable than biopsy histology". T...

journal_title：Clinical chemistry and laboratory medicine

authors： Lombardo L,Leto R,Molinaro G,Migliardi M,Ravarino N,Rocca R,Torchio B

更新日期：2010-09-01 00:00:00

abstract：:Advanced age-related macular degeneration (AAMD) is a complex sight-threating disease of public health significance. Micro RNAs (miRNAs) have been proposed as biomarkers for AAMD. The presence of certain single nucleotide polymorphisms (SNPs) may influence the explanatory value of these biomarkers. Here we present fin...

journal_title：Clinical chemistry and laboratory medicine

authors： SanGiovanni JP,SanGiovanni PM,Sapieha P,De Guire V

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:The circulating levels of plasminogen activator inhibitor type 1 (PAI-1) are increased in individuals carrying the 4G allele at position -675 of the PAI-1 gene. In turn, overexpression of PAI-1 has been found to affect both atheroma and thrombosis. However, the association between PAI-1 levels and the incide...

journal_title：Clinical chemistry and laboratory medicine

authors： Nikolopoulos GK,Bagos PG,Tsangaris I,Tsiara CG,Kopterides P,Vaiopoulos A,Kapsimali V,Bonovas S,Tsantes AE

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Established general risk score models for intensive care patients incorporate several clinical and laboratory data. However, the collection, documentation and classification of clinical data are time-consuming, incur labor-related costs, and are dependent on the experience of the examiner. Therefore, in the ...

journal_title：Clinical chemistry and laboratory medicine

authors： Stachon A,Segbers E,Hering S,Kempf R,Holland-Letz T,Krieg M

更新日期：2008-01-01 00:00:00

abstract：:The results of several recent experimental studies using animal models and clinical trials suggested that obesity is not merely an epiphenomenon or a prominent comorbidity in patients with heart failure (HF). Indeed, recent studies suggest that obesity is intimately involved in the pathogenesis of HF with preserved ej...

journal_title：Clinical chemistry and laboratory medicine

authors： Clerico A,Zaninotto M,Passino C,Plebani M

更新日期：2018-06-27 00:00:00

abstract：:An increasing incidence of male infertility has been noted over the past few decades. This adds urgency to the need to develop immunohistochemical markers for better evaluation of testicular biopsies. We provide evidence that a histopathological evaluation performed according to morphological criteria and assisted by ...

journal_title：Clinical chemistry and laboratory medicine

authors： Bar-Shira Maymon B,Yavetz H,Schreiber L,Paz G

更新日期：2002-03-01 00:00:00

abstract：BACKGROUND:The aim was to investigate whether first trimester glycodelin and angiopoietin-2 can predict small-for-gestational age (SGA) at delivery, individually or in combination. METHODS:In this case-control study we measured glycodelin and angiopoietin-2 on serum from 170 singleton pregnant women delivering SGA neo...

journal_title：Clinical chemistry and laboratory medicine

authors： Hansen YB,Myrhøj V,Jørgensen FS,Sørensen S

更新日期：2016-09-01 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:Transferrin (Tf) glycoform lacking one or two complete or incomplete glycan chains (i.e., asialo-monosialo- and disialo-Tf) typically appear in blood after chronic alcohol consumption, though recently it was reported that monosialo-Tf is associated with trisialo-Tf but not with alcohol consumption. These gly...

journal_title：Clinical chemistry and laboratory medicine

authors： Daves M,Cemin R,Floreani M,Pusceddu I,Cosio G,Lippi G

更新日期：2011-10-01 00:00:00

abstract：:Intake of drugs may influence the interpretation of laboratory test results. Knowledge and correct interpretation of possible drug-laboratory test interactions (DLTIs) is important for physicians, pharmacists and laboratory specialists. Laboratory results may be affected by analytical or physiological effects of medic...

journal_title：Clinical chemistry and laboratory medicine

authors： van Balveren JA,Verboeket-van de Venne WPHG,Erdem-Eraslan L,de Graaf AJ,Loot AE,Musson REA,Oosterhuis WP,Schuijt MP,van der Sijs H,Verheul RJ,de Wolf HK,Kusters R,Hoedemakers RMJ,Dutch Society for Clinical Chemistry and Laborat

更新日期：2018-11-27 00:00:00

abstract：BACKGROUND:Sequencing based mutation screening assays of genes encompassing large numbers of exons could be substantially optimized by multiplex PCR, which enables simultaneous amplification of many targets in one reaction. In the present study, a multiplex PCR protocol originally developed for fragment analysis was ev...

journal_title：Clinical chemistry and laboratory medicine

authors： Horn MP,Mäder-Heinemann G,Andrey G,Largiadèr CR

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:Crohn's disease (CD) is an incurable and difficult to diagnose condition. While high sensitive C-reactive protein (CRP) remains the best biochemical marker, we evaluated the diagnostic usefulness of lipid peroxidation indices. METHODS:Malondialdehyde/thiobarbituric acid-reactive substances (MDA/TBARS), pero...

journal_title：Clinical chemistry and laboratory medicine

authors： Boehm D,Krzystek-Korpacka M,Neubauer K,Matusiewicz M,Paradowski L,Gamian A

更新日期：2012-03-03 00:00:00

abstract：:The application of turbidimetric homogeneous immunoassays made the determination of several plasma components widely available. The sensitivity and accuracy of these assays are appropriate enough for routine laboratory use; however, in the case of many pathologically high concentration samples, prozone effect (high do...

journal_title：Clinical chemistry and laboratory medicine

authors： Papik K,Molnar B,Fedorcsak P,Schaefer R,Lang F,Sreter L,Feher J,Tulassay Z

更新日期：1999-04-01 00:00:00

abstract：:Brain natriuretic peptide is proposed as a biochemical marker which could provide a useful screening test to select patients for further cardiac investigations in heart failure. The applicability of such a biochemical test in clinics, hospital wards, and clinical laboratories is dependent on its ease of use and on the...

journal_title：Clinical chemistry and laboratory medicine

authors： Gobinet-Georges A,Valli N,Filliatre H,Dubernet MF,Dedeystere O,Bordenave L

更新日期：2000-06-01 00:00:00

abstract：BACKGROUND:Extensive application of measurement of urinary iodine concentration (UIC) in several benign and malignant thyroid diseases could profit by the availability of rapid and inexpensive measuring techniques. Aim of this study was to apply a simple and inexpensive commercially available potentiometric method for ...

journal_title：Clinical chemistry and laboratory medicine

authors： Giovacchini G,Giovanella L,Haldemann A,Staub U,Füchsel FG,Koch P

更新日期：2015-10-01 00:00:00

abstract：BACKGROUND:Despite remarkable advances in technology and laboratory automation, results of laboratory testing still suffer from a high degree of preanalytical variability. Although there is no definitive evidence, the use of small-gauge needles for venipuncture is usually discouraged to reduce the chance of producing u...

journal_title：Clinical chemistry and laboratory medicine

authors： Lippi G,Salvagno GL,Montagnana M,Brocco G,Cesare Guidi G

更新日期：2006-01-01 00:00:00

abstract：PURPOSE:DNA strand breaks are believed to induce carcinogenesis. This study was conducted to analyze induction and repair of irradiation- and chemotherapy-related strand breaks in vitro. METHODS:Friend Leukemia cells were exposed to irradiation and various chemotherapeutic agents at different doses and concentrations....

journal_title：Clinical chemistry and laboratory medicine

authors： Froelich JJ,Schneller FR,Zahn RK

更新日期：1999-04-01 00:00:00

abstract：:This review presents an overview of current research on the use of capillary electrophoretic techniques for the analysis of drugs in biological matrices. The discussion focuses on the applicability of the methods for the identification of unknown toxic compounds, which is defined as systematic toxicological analysis (...

journal_title：Clinical chemistry and laboratory medicine

authors： Boone CM,Ensing K

更新日期：2003-06-01 00:00:00

abstract：:Acute intestinal ischemic injury (i3) is a life-threatening condition with disastrous prognosis, which is currently difficult to diagnose at the early stages of the disease; a rapid diagnosis is mandatory to avoid irreversible ischemia, extensive bowel resection, sepsis and death. The overlapping protein expression of...

journal_title：Clinical chemistry and laboratory medicine

authors： Peoc'h K,Nuzzo A,Guedj K,Paugam C,Corcos O

更新日期：2018-02-23 00:00:00

abstract：BACKGROUND:Adiponectin is a cytokine produced by adipose tissue with insulin sensitising and anti-atherosclerotic effects. Low plasma adiponectin levels are used as a marker of the metabolic syndrome and incipient type 2 diabetes. METHODS:We carried out a series of studies to determine the short- and long-term variabi...

journal_title：Clinical chemistry and laboratory medicine

authors： Shand B,Elder P,Scott R,Frampton C,Willis J

更新日期：2006-01-01 00:00:00