Abstract:
:Several clinical entities are associated with disorders of fatty acid oxidation or transfer across the inner mitochondrial membrane. Over 40 cases of the primary carnitine deficiency syndrome have been reported to date and various subtypes have been characterized. This represents a large clinical spectrum. The deficiency of carnitine in muscle is at the basis of a syndrome characterized by muscle weakness and lipid storage myopathy. The systemic form of carnitine deficiency is more generalized and includes recurrent episodes of hepatic encephalopathy as well as lipid storage in muscle, liver and heart. In one subtype, hypoglycemia upon fasting and cardiomyopathy are found. There are also several causes of secondary carnitine deficiency states which are either acquired or associated with inborn errors of metabolism (organic acidurias, defects of acyl-CoA dehydrogenases). Clinically, Carnitine palmitoyltransferase (CPT) deficiency is a rather homogeneous syndrome presenting with recurrent episodes of myoglobinuria provoked by fasting or prolonged exercise. The only exception is an infantile variety associated with severe hypoglycemia and hepatic CPT deficiency. Using malonyl-CoA, a specific inhibitor of CPT-I, we had suggestions in five adult patients with myoglobinuria that CPT-II is lacking in muscle, liver and platelets while CPT-I is above the control level. The enzyme abnormality seems partial and limited to CPT-II or to its binding to the inner mitochondrial membrane.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Angelini C,Trevisan C,Isaya G,Pegolo G,Vergani Ldoi
10.1016/s0009-9120(87)80090-5subject
Has Abstractpub_date
1987-02-01 00:00:00pages
1-7issue
1eissn
0009-9120issn
1873-2933pii
S0009-9120(87)80090-5journal_volume
20pub_type
杂志文章,评审abstract:OBJECTIVES:To develop a tandem mass spectrometry (MS/MS) method for plasma free and total carnitine, incorporating acid hydrolysis for total carnitine measurement, for improved accuracy and sample throughput. DESIGN AND METHODS:Limit of detection (LOD), limit of quantitation (LOQ), linearity, accuracy, precision coeff...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.08.015
更新日期:2010-11-01 00:00:00
abstract:OBJECTIVE:To evaluate a novel surface plasmon resonance (SPR) system for the direct measurement of tumor marker carbohydrate antigen 15-3 (CA15-3) in human saliva. DESIGN AND METHODS:We measured the presence of the tumor marker carbohydrate antigen 15-3 (CA15-3) in human saliva using 2 different surface plasmon resona...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.09.001
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:This study aimed to evaluate the effects of statin therapy on serum levels of antibodies to several specific heat shock proteins (HSPs) in dyslipidemic patients. DESIGN AND METHODS:Participants (n=102) were treated with simvastatin (40mg/day), or placebo in a randomized, double-blind, placebo-controlled, cro...
journal_title:Clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.clinbiochem.2010.09.016
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:We seek to identify the differentially expressed miRNAs in the clear cell subtype (ccRCC) of kidney cancer. DESIGN AND METHODS:We performed a miRNA microarray analysis to compare the miRNA expression levels between ccRCC tissues and their normal counterpart. The top dysregulated miRNAs were validated by quan...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.07.020
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:The aims of the study were to test the susceptibility of THP-1 macrophages to develop oxidative stress and to deploy antioxidant defense mechanisms that insure the balance between the pro- and antioxidant molecules. DESIGN AND METHODS:Differentiated THP-1 were incubated in the presence or absence of iron-as...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.04.012
更新日期:2011-07-01 00:00:00
abstract:UNLABELLED:Free radical production and high catecholamine levels are implicated with the modulation of acetylcholinesterase (AChE) activity. OBJECTIVE:To investigate the effect of the mode of delivery on maternal-neonatal erythrocyte membrane AChE activity. SUBJECTS AND METHODS:Some women with normal pregnancy (N = 3...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.04.005
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVES:Glycosylation analysis provides many opportunities for diagnostics, but its complexity hampers its routine application. Aiming to alleviate this problem, we developed a simple assay that can measure sialylation of transferrin directly from serum. DESIGN AND METHODS:Transferrin samples with different levels ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.01.010
更新日期:2007-06-01 00:00:00
abstract:UNLABELLED:Chronic liver diseases may cause inflammation and progressive scarring, over time leading to irreversible hepatic damage (cirrhosis). As a result, the need to assess and closely monitor individuals for risk factors of components of matrix deposition and degradation, as well as the severity of the fibrosis us...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2015.07.019
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Elevated concentrations of Hepatocarcinoma-Intestine-Pancreas/Pancreatitis-associated Protein I (HIP/PAP-I) in pancreatic juice have been reported in patients with pancreatic adenocarcinoma and have been considered as a promising tumor marker. This study was conducted to investigate whether biliar...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.01.012
更新日期:2005-06-01 00:00:00
abstract::To date, pancreatic cancer (PDAC) can't be diagnosed early. Consequently, a majority of patient (80%) display an advanced disease that results in a low resection rate leading to an overall median survival of 4 to 6months. Accordingly, robust markers for the early diagnosis and prognosis of pancreatic cancer, or marker...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2013.03.019
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVE:Third generation oral contraceptives (OC) may increase the risk of cardiovascular events in healthy young women. DESIGN AND METHODS:We assessed the effect of second and third generation OC on CRP, lipids and apolipoproteins in 128 women. RESULTS:CRP was significantly higher in third generation contraceptive...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.12.013
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:We developed assays for measurement of urinary betaLH and betaFSH under collection and storage conditions typical of non-clinical research settings. DESIGN AND METHODS:IEMAs for free betaLH and total betaFSH were validated by standard methods. Stability of urinary betaLH and betaFSH was tested across freeze-...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.08.009
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:The purpose of our study was to investigate the serum levels of soluble a-proliferation-inducing ligand (sAPRIL) in patients with colorectal cancer (CRC), benign intestinal disease and healthy volunteers and explore the potential possibility of sAPRIL severing as a CRC biomarker. METHODS:Our investigation wa...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.06.008
更新日期:2013-10-01 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::Post-transplant ischemic acute kidney injury (AKI), secondary to ischemia reperfusion injury (IRI), is a major problem influencing on the short and long term graft and patient survival. Many molecular and cellular modifications are observed during IRI, for example, tissue damage result production of reactive oxygen sp...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2018.03.022
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:To clarify the possibility that midband Lp in LDL fractions might act as an atherogenic lipoprotein in their interaction with macrophages. DESIGN AND METHODS:Low density lipoproteins (LDL) isolated by zonal ultracentrifugation from midband lipoprotein-positive serum in type lib hyperlipidemics were subjected...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(96)00009-c
更新日期:1996-06-01 00:00:00
abstract:OBJECTIVES:Researchers have proposed that cancer stem cells (CSCs) are the driving force of tumorigenesis, recurrence, and metastases, contributing to the failure of some cancer treatments. Water bath hyperthermia, a novel treatment for cancer, can be highly effective when combined with chemotherapy, radiotherapy, or i...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.08.023
更新日期:2013-11-01 00:00:00
abstract::Many clinical laboratories use the Beckman Microzone electrophoretic system (Beckman Instruments Inc. Fullerton, CA 92634) for serum protein separation. Although detailed instruction is supplied in the manufacturer's manual (1) for protein separation, the effect of different sample application positions on the cellulo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(78)80019-8
更新日期:1978-12-01 00:00:00
abstract:OBJECTIVE:To report the phenotypes and genetic basis of a novel (A)γδβ(0)-thalassemia found in Thai individuals with several forms of thalassemia. DESIGNS AND METHODS:An initial study was done in an adult Thai woman who had hypochromic microcytic red cells with unusually 100% Hb F. Extended study was carried out on he...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.03.023
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVES:This study aimed to examine the association between promoter polymorphisms of Th1 and Th2 cytokine genes [interleukin-4 (IL-4 T-34C, A-81G, C-285T and T-589C), IL-6 (G-174C), IL-10 (A-592C and T-819C) and tumour necrosis factor-alpha (TNF-alpha G-238A and G-308A)] and Graves' disease (GD) in Taiwanese popula...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.11.009
更新日期:2007-02-01 00:00:00
abstract:OBJECTIVES:To investigate the association between oxidative stress and certain trace elements in the blood of breast cancer patients. DESIGN AND METHODS:Malondialdehyde (MDA) was measured in serum of patients with breast cancer (n = 35) and controls (n = 35) by high performance liquid chromatography. Trace elements we...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/s0009-9120(98)00096-4
更新日期:1999-03-01 00:00:00
abstract::This article reviews some of the important determinants of variation in drug disposition such as age, gender, body weight, diet, environmental influences, drug - protein interactions, compliance, drug - drug interactions, endogenous substances, disease states, circadian variation and genetics. ...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(86)80050-9
更新日期:1986-04-01 00:00:00
abstract:OBJECTIVES:Amyloidosis results from local or systemic extracellular deposition of insoluble protein fibrils and is associated with certain rare mutations in APOA1 encoding apolipoprotein (apo) A-I. DESIGN AND METHODS:In a patient with renal-predominant amyloidosis with neuropathy, we found the APOA1 G26R mutation. CO...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(03)00110-3
更新日期:2003-11-01 00:00:00
abstract::Fourteen antirheumatoid drugs were tested for their effects on the in vitro hyaluronidase activity of normal human serum. Four drugs produced significant changes in enzyme activity. Different results were obtained with ovine testicular hyaluronidase when diluted with either saline or inactivated human serum. No increa...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(76)80053-7
更新日期:1976-08-01 00:00:00
abstract:OBJECTIVE:In this study, we determined the assay performance criteria necessary to produce acceptable results for >or=98% of neonate bilirubin samples collected by capillary heel-stick. STUDY DESIGN AND METHODS:We determined serum free hemoglobin levels in 151 heel-stick serum samples to determine the hemolysis level....
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.08.003
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVES:To determine salivary cortisol reference intervals in a healthy adult population, at 6 different time points during a 24-hour (h) period. METHODS:In a prospective study, salivary cortisol concentrations were measured upon waking, one-hour post-waking and at specific times of the day: at 12 h00, 16 h00, 20 h...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/j.clinbiochem.2018.02.012
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVES:In a study by Couto et al. (Use of an algorithm applied to urine drug screening to assess adherence to an oxycontin regimen. J Opioid Manag 2009;5:359-64), adjusted urine measurements of oxycodone plus metabolites noroxycodone and oxymorphone were determined among volunteer subjects in three groups according...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.09.016
更新日期:2013-01-01 00:00:00
abstract::Plasma membrane-bound 5'-nucleotidase (5'-NT), gamma-glutamyltransferase (gamma-GT) and soluble deoxynucleotidyltransferase (TdT) were studied in peripheral blood cells (PBMN) of 35 individuals, 26 male and 9 female, with circulating anti-HIV antibodies. Twenty-six were drug abusers, 2 were drug abusers and homosexual...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(89)80026-8
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVES:Human kallikrein 11 gene (KLK11) encodes a secreted serine protease. In view of its diagnostic and prognostic strength in many malignancies, we investigated the mRNA expression levels of KLK11 in laryngeal tissues in order to unveil its clinical usefulness in laryngeal cancer. DESIGN AND METHODS:KLK11 expre...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.03.005
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to establish the range of chitotriosidase (CT) activity in normal individuals, patients with Gaucher disease (GD) and Niemann-Pick disease (NPD), types A or B. The kinetics of CT in these three groups was also investigated. DESIGN AND METHODS:CT activity, as well as Km, Vmax...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2004.06.008
更新日期:2004-10-01 00:00:00