Abstract:
BACKGROUND:Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and on reference intervals in children and adolescents are lacking. METHODS:We established a LC-MS/MS assay to measure Cholestane-3β, 5α, 6β-triol (C-triol) and 7-Ketocholesterol (7-KC) following Steglich esterification. To assess reference intervals and intra-individual variation we determined oxysterols in 148 children and adolescents from 0 to 18 years and repeat measurements in 19 of them. RESULTS:The reported method is linear (r>0.99), sensitive (detection limit of 0.03 ng/mL [0.07 nM] for C-triol, and 0.54 ng/mL [1.35 nM] for 7-KC) and precise, with an intra-day imprecision of 4.8% and 4.1%, and an inter-day imprecision of 7.0% and 11.0% for C-triol (28 ng/ml, 67 nM) and 7-KC (32 ng/ml, 80 nM), respectively. Recoveries for 7-KC and C-triol range between 93% and 107%. The upper reference limit obtained for C-triol is 40.4 ng/mL (95% CI: 26.4-61.7 ng/mL, 96.0 nM, 95% CI: 62.8-146.7 nM) and 75.0 ng/mL for 7-KC (95% CI: 55.5-102.5 ng/mL, 187.2 nM, 95% CI: 138.53-255.8 nM), with no age or gender dependency. Both oxysterols have a broad intra-individual variation of 46%±23% for C-triol and 52%±29% for 7-KC. Nevertheless, all Niemann-Pick patients showed increased C-triol levels including Niemann-Pick type A and B patients. CONCLUSIONS:The LC-MS/MS assay is a robust assay to quantify C-triol and 7-KC in plasma with well documented reference intervals in children and adolescents to screen for NP-C in the pediatric population. In addition our results suggest that especially the C-triol is a biomarker for all three Niemann-Pick diseases.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Klinke G,Rohrbach M,Giugliani R,Burda P,Baumgartner MR,Tran C,Gautschi M,Mathis D,Hersberger Mdoi
10.1016/j.clinbiochem.2015.03.007subject
Has Abstractpub_date
2015-06-01 00:00:00pages
596-602issue
9eissn
0009-9120issn
1873-2933pii
S0009-9120(15)00084-3journal_volume
48pub_type
杂志文章abstract:OBJECTIVE:To develop sensitive nonisotopic assays for protein-tyrosine phosphatase (PTP) activity. METHODS:The fluorometric assay is based on the fact that phosphotyrosine but not tyrosine forms highly fluorescent complexes with Tb3+. Thus, PTP activity can be followed by measuring the decrease of fluorescence due to ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(95)02026-8
更新日期:1996-04-01 00:00:00
abstract:OBJECTIVE:We evaluated the erythrocyte lipid susceptibility to oxidation and erythrocyte antioxidant status in patients with myocardial infarction (MI). DESIGN AND METHODS:Patients with MI were divided into two group according to the severity of the disease as severe (n = 30) or milder (n = 25). Malondialdehyde as a m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00070-8
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVES:Delayed graft function (DGF) is still a major issue in kidney transplantation. Plasma and urine neutrophil gelatinase-associated lipocalin (NGAL) were evaluated in a population of kidney donors and recipients to investigate their performance to predict early renal function. DESIGN AND METHODS:Plasma (pNGAL)...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.06.079
更新日期:2014-10-01 00:00:00
abstract::Children whose parents had early coronary heart disease were investigated. In order to assess high-risk parameters serum total cholesterol (TC), total triglyceride (TT), high-density lipoprotein cholesterol (HDLC), low-density lipoprotein cholesterol (LDLC), lipid peroxide (LP), prostacyclin (PGI2), thromboxane (TX) l...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(91)90541-l
更新日期:1991-04-01 00:00:00
abstract:OBJECTIVE:This article will review the advancements and new developments being made in (1) advanced computers, (2) microtechnology, (3) advanced immunodiagnostics, (4) neural networks, and (5) molecular biology. The influence of these technologies and their products on clinical laboratories is also discussed. CONCLUSI...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(94)00075-7
更新日期:1995-06-01 00:00:00
abstract::Monitoring blood levels of Cyclosporine (CsA) has been the basis for adjusting individual dosage regimens in the clinic. Radioimmunoassays using polyclonal antisera reacted with CsA and some CsA metabolites, leading to overestimation when compared with high-performance liquid chromatographic measurements of CsA. Monoc...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(91)90147-7
更新日期:1991-02-01 00:00:00
abstract:OBJECTIVES:Measurements of myoglobin and creatine kinase (CK)-MB isoforms have been suggested to be sensitive tests for the early diagnosis of myocardial infarction (MI). We have investigated the utility of myoglobin, creatine kinase (CK)-MB isoforms and creatine kinase MB mass (CK-MBm) in early diagnosis of MI using c...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00385-5
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVES:Analysis of serum/plasma methylmalonic acid (MMA) is important for the diagnosis and management of methylmalonic acidemia in pediatric populations. This work focuses on developing and validating a liquid chromatography tandem mass spectrometry (LC-MS/MS) method to monitor methylmalonic acidemia using a simpl...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.05.010
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:The gold standard test for the diagnosis of urinary tract infection is bacterial culture. However, urine cultures are labor intensive and costly. Furthermore, since results take 1-2 days many patients are treated presumptively prior to culture results being known. METHODS:We evaluated the Sysmex UF-1000i fo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.03.005
更新日期:2013-06-01 00:00:00
abstract::The current review presents the results of the most recent studies performed on different aspects of human head and neck squamous cell carcinoma, including radiosensitivity induction, efficiency improvement of monoclonal antibodies using low-intensity ultrasound, chemical compounds such as toll-like receptor (TLC) ago...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2014.05.066
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:Plasma ammonia measurement is greatly influenced by pre-analytical conditions, which may lead to false positives. We wanted to evaluate the prevalence and clinical impact of plasma ammonia false positives in a pediatric population. DESIGN AND METHODS:Over a 28-month period, charts of patients with elevated a...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.01.024
更新日期:2007-05-01 00:00:00
abstract::Erythrocyte morphology, kinematic viscosity, and membrane lipid composition have not been well documented in heterozygous hypobetalipoproteinemia (HBL). In our study of nine subjects with HBL from two kindreds, three presented with schistocytes (3-6%) while two of them also showed acanthocytosis (25-35%) on their peri...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(88)80020-1
更新日期:1988-12-01 00:00:00
abstract:OBJECTIVES:Non-invasive prenatal aneuploidy testing (NIPT) by next-generation sequencing of circulating cell-free DNA in maternal plasma relies on chromosomal ratio (chrratio) measurements to detect aneuploid values that depart from euploid ratios. Diagnostic performances are known to depend on the fraction of fetal DN...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.06.015
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVES:Receptor for advanced glycation end products (RAGE) plays a role in inflammatory reactions. Soluble RAGE (sRAGE) level is elevated in patients with acute respiratory distress syndrome (ARDS). However, which clinical parameters and inflammatory biomarkers including sRAGE are associated with death in ARDS pati...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.12.014
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:To determine Retinol Binding Protein 4 (RBP4) levels in patients with Familial Partial Lipodystrophy (FPLD). METHODS:Ten patients with FPLD and a control group (9 patients) were selected to participate in the study. RESULTS:RBP4-log levels were lower in patients with FPLD in comparison to control group (1.5...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.03.006
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVES:To assess the association of serum adiponectin and microvascular complications of diabetes in an urban south Indian type 2 diabetic population. DESIGN AND METHODS:Diabetic subjects [n=487] were included from Chennai Urban Rural Epidemiology Study (CURES). Four-field stereo retinal color photography was done...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.10.009
更新日期:2015-01-01 00:00:00
abstract::An affinity chromatographic method (AC) was compared with ion exchange chromatography (IEC) for determination of glycated hemoglobin (gHb). In vitro, increasing glucose concentration produced no change on AC-determined gHb. gHb measurement by AC was highly correlated with mean blood glucose (r = 0.96). Mean values of ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(86)80010-8
更新日期:1986-12-01 00:00:00
abstract:OBJECTIVES:To develop immunofluorometric procedures for measuring BRCA1 protein in various biological fluids and tissue extracts. DESIGN AND METHODS:Five commercially available monoclonal and polyclonal antibodies against BRCA1 were evaluated for developing competitive and non-competitive immunofluorometric procedures...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(97)00042-8
更新日期:1997-07-01 00:00:00
abstract::This study was performed to investigate the antioxidant mechanisms of polymorphonuclear leucocytes (PMN) in active stage of Behçet's Disease. PMN activities of myeloperoxidase (p < 0.02), superoxide dismutase (p < 0.001), catalase (p < 0.005), and glutathione peroxidase (p < 0.005) were significantly lower in the pati...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(94)90046-9
更新日期:1994-10-01 00:00:00
abstract::Lipoprotein lipase (LPL) of adipose cells is present only in membrane compartments, mainly in the Golgi apparatus. LPL is a typical secretory protein which appears to be active as a homodimer. The process of LPL synthesis and maturation requires multiple steps. LPL is synthesized in the endoplasmic reticulum as an ina...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(90)90034-r
更新日期:1990-10-01 00:00:00
abstract:BACKGROUND:Measurement of 25(OH)D has evolved rapidly, with an increased number of high-throughput automated immunoassays becoming available in recent years. The aim of this study was to fully evaluate six commercially available automated 25(OH)D immunoassays, including 2 newly available (Beckman Coulter) and one recal...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.08.005
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To evaluate relationships between apolipoprotein B (Apo B), LDL cholesterol (LDL-C), and non-HDL-C in high-risk patients treated with lipid-lowering therapy. DESIGN AND METHODS:This post-hoc analysis calculated LDL-C and non-HDL-C levels corresponding to an Apo B of 0.9 g/L following treatment with 1) statin...
journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.clinbiochem.2011.02.008
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVES:To establish whether normal human subjects excrete glycine betaine at a constant rate. DESIGN AND METHODS:Urine was collected from ten normal healthy male subjects for 14 days, during which fluid intake was systematically varied from <800 mL to >3 L per day. Glycine betaine, sorbitol and creatinine excretio...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.10.029
更新日期:2007-04-01 00:00:00
abstract::In the column chromatographic determination of Hb A1c, hemoglobin variants affect Hb A1c results and column patterns. Samples from several patients with hemoglobin variants were run on Bio-Rad Hb A1c columns to demonstrate these patterns. Columns should be examined during the run to detect the presence of Hb F which m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(85)80103-x
更新日期:1985-06-01 00:00:00
abstract:OBJECTIVES:Characterization of beta-galactosidase in leukocytes and fibroblasts of heterozygotes for GM1 type I. DESIGN AND METHODS:Leukocyte and fibroblast beta-galactosidase activity was determined fluorimetrically using 4-methylumbelliferyl-beta-D-galactoside as an artificial substrate. Optimum pH, Km, Vmax and the...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(00)00049-7
更新日期:2000-03-01 00:00:00
abstract::Point of Care Testing (POCT) refers to clinical laboratory testing performed outside the central laboratory, nearer to the patient and sometimes at the patient bedside. The testing is usually performed by clinical staff, such as physicians or nurses, who are not laboratory trained. This document was developed by the P...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2020.11.008
更新日期:2021-02-01 00:00:00
abstract:UNLABELLED:Antioxidant capacity testing is commonly used in clinical investigations to provide an estimate of in vitro antioxidant capacity of biosamples. Although beneficial to measure the synergistic contribution of all compounds with antioxidant functionality, assessing the capacity of non-protein fractions or small...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.06.021
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVES:In joint degenerative diseases, the collagens are degraded by matrix metalloproteinases and protein fragments are released to serum as potential biomarkers. METHODS:A collagen type II specific neoepitope, CIIM, was identified (…RDGAAG(1053)) by mass spectrometry. Two ELISAs against the neoepitope were devel...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.01.001
更新日期:2011-04-01 00:00:00
abstract::We investigated the effects of medium supplementation with increasing amounts of different fatty acids on HepG2 cell cholesterol biosynthesis and esterification. Up to 200 microM 16:0 led to an increase in cholesterol secretion/synthesis of 60%/40%; 18:1, 18:2, or 18:3 decreased secretion/synthesis by 35%/25%, 65%/65%...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(92)80008-5
更新日期:1992-10-01 00:00:00
abstract::We present a systematic parametric method for resolving age-related reference intervals based on differential-polynomial regression analysis. Application of this method to plasma zinc concentrations in a childhood population results in a third degree polynomial expression from which two statistically independent age-r...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(79)90056-0
更新日期:1979-02-01 00:00:00