Abstract:
:Because tandem mass spectrometry- (MS/MS-) based newborn screening identifies many suspicious cases of fatty acid oxidation and carnitine cycle disorders, a simple, noninvasive test is required to confirm the diagnosis. We have developed a novel method to evaluate the metabolic defects in peripheral blood mononuclear cells loaded with deuterium-labeled fatty acids directly using the ratios of acylcarnitines determined by flow injection MS/MS. We have identified diagnostic indices for the disorders as follows: decreased ratios of d27-C14-acylcarnitine/d31-C16-acylcarnitine and d23-C12-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-II (CPT-II) deficiency, decreased ratios of d23-C12-acylcarnitine/d27-C14-acylcarnitine for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and increased ratios of d29-C16-OH-acylcarnitine/d31-C16-acylcarnitine for trifunctional protein (TFP) deficiency, together with increased ratios of d7-C4-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-I deficiency. The decreased ratios of d1-acetylcarnitine/d31-C16-acylcarnitine could be indicative of β-oxidation ability in patients with CPT-II, VLCAD, and TFP deficiencies. Overall, our data showed that the present method was valuable for establishing a rapid diagnosis of fatty acid oxidation disorders and carnitine cycle disorders and for complementing gene analysis because our diagnostic indices may overcome the weaknesses of conventional enzyme activity measurements using fibroblasts or mononuclear cells with assumedly uncertain viability.
journal_name
Dis Markersjournal_title
Disease markersauthors
Yuasa M,Hata I,Sugihara K,Isozaki Y,Ohshima Y,Hara K,Tajima G,Shigematsu Ydoi
10.1155/2019/2984747subject
Has Abstractpub_date
2019-02-07 00:00:00pages
2984747eissn
0278-0240issn
1875-8630journal_volume
2019pub_type
杂志文章相关文献
DISEASE MARKERS文献大全abstract:INTRODUCTION:Vitamin D deficiency is associated with the onset and progression of hypertension and cardiovascular disease (CVD). However, mechanisms underlying vitamin D deficiency-mediated increased risk of CVD remain unknown. We sought to examine the differential effect of high-dose versus low-dose vitamin D suppleme...
journal_title:Disease markers
pub_type: 杂志文章,随机对照试验
doi:10.1155/2015/918968
更新日期:2015-01-01 00:00:00
abstract::Pancreatic adenocarcinoma (PDAC) still represents a devastating disease associated with a very limited survival. Novel biomarkers allowing an early diagnosis as well as an optimal selection of suitable treatment options for individual patients are urgently needed to improve the dismal outcome of PDAC patients. Recentl...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2019/5603474
更新日期:2019-10-20 00:00:00
abstract:Objective:Recent studies have demonstrated that miRNA-155 is involved in the occurrence and development of atherosclerosis. Furthermore, miRNA-155 has emerged as a new indirect marker for inflammation associated with adverse outcomes in oncology and cardiovascular diseases. This study investigated the correlation betwe...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2018/6345284
更新日期:2018-06-25 00:00:00
abstract::In an attempt to better unfold the antitumor immune response and invasion strategies perused by tumor cells, markers such as CD99 and HLA-II have been stained in breast tumors, some of them turned out to be important for prognosis and its outcome. CD99 is involved in the intracellular transport of HLA-II proteins. The...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.3233/DMA-130982
更新日期:2013-01-01 00:00:00
abstract::PIZ allele frequencies were defined by PCR amplification and hybridization using a PIZ SSO (sequence specific oligonucleotide) probe. The groups studied included 64 normal controls, 104 subjects with rheumatoid arthritis (RA) without any extra-articular features, 29 of whom had severe arthritis and 31 of whom had mild...
journal_title:Disease markers
pub_type: 杂志文章
doi:
更新日期:1992-05-01 00:00:00
abstract:BACKGROUND:The apolipoprotein (apo) B/apoA-I ratio represents the balance between apoB-rich atherogenic particles and apoA-I-rich antiatherogenic particles, and this ratio is considered to be a marker of cardiovascular risk. Although many studies have demonstrated the importance of the apoB/apoA-I ratio in predicting t...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2015/591454
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:Acute gangrenous appendicitis (AGA) is a common medical condition; however, the grade of appendicitis usually cannot be established preoperatively. We have attempted to identify some indicators, such as the mean platelet volume (MPV) and the platelet distribution width (PDW), to diagnose AGA. Aims. To eval...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2015/542013
更新日期:2015-01-01 00:00:00
abstract:Objective:In order to further study the changes of cerebral functional connectivity in patients with toothache (TA), this study used the resting-state functional magnetic resonance imaging (rs-fMRI) technique and degree centrality (DC) analysis method. Methods:Eighteen TA patients (8 males, 10 females) and 18 healthy ...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2020/6683161
更新日期:2020-12-28 00:00:00
abstract::Vitamin D plays a role in central nervous system (CNS) development. Recent literature focused on vitamin D status in children and adolescents with autism spectrum disorder (ASD), but with inconsistent results. Our case-control study is aimed at evaluating serum 25-hydroxyl-vitamin D (25(OH)D) concentration in children...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2020/9292560
更新日期:2020-09-18 00:00:00
abstract::Alterations of the retinoblastoma (Rb) gene have been described in several human neoplasms and recently, it has been suggested that these alterations may play a role in the development of endometrial carcinomas. Paraffin sections from 31 cases of normal endometrium (16 proliferative, 15 secretory), 35 hyperplastic les...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2002/496345
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Both adaptive and innate immune systems are involved in coronary artery disease (CAD). The aim of this study was to evaluate TH17 cytokines expression profiles in un-stimulated peripheral blood lymphocytes (PBMCs) of patients with coronary artery disease. METHODS:Expression profiles of IL-17, IL-23, and TGF-...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.3233/DMA-2012-00933
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND AND AIM:Because B-type natriuretic peptide is a powerful predictor of heart failure, its capability to predict a fatal outcome in stroke might be limited to the cardioembolic stroke subtype. In this study, we attempt to ascertain the difference in the prognostic value of N-terminal pro-B-type natriuretic pep...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2015/597570
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To determine the proportion of initial troponin (cTn) elevations associated with Type I MI versus other cardiovascular and noncardiovascular diagnoses in an emergency department (ED) and whether or not a relationship exists between the cTn level and the likelihood of Type I MI. BACKGROUND:In the ED, cTn is u...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2015/157812
更新日期:2015-01-01 00:00:00
abstract::Plasma from bronchial asthma patients and healthy controls was investigated for the content of lipoxygenase products. After lipid extraction using SEP-PAK C18 Cartridges, the lipoxygenase products were measured by Enzyme-Immunoassay. Elevated chemotactic B4 was found in plasma from asthmatic patients with mean value (...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/1994/121453
更新日期:1995-03-01 00:00:00
abstract::To identify the novel, noninvasive biomarkers to assess the outcome and prognosis of breast cancer (BC), patients with high sensitivity and specificity are greatly desired. Herein, the miRNA expression profile and matched clinical features of BC patients were extracted from The Cancer Genome Atlas (TCGA) database. The...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2019/3815952
更新日期:2019-12-30 00:00:00
abstract::There is a known relationship between serum alanine aminotransferase (ALT) and obesity in humans, but the mechanism(s) are not clarified. This study investigated the associations between serum ALT and body composition in an overweight and obese population. The results are based on data from a previous randomized contr...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2019/1695874
更新日期:2019-08-26 00:00:00
abstract:BACKGROUND:Up to 43% of HIV-infected patients co-infected with Mycobacterium tuberculosis experience exacerbations of tuberculosis (TB) after commencing antiretroviral therapy (ART). These are termed immune restoration disease (IRD). It is unclear why individual susceptibility varies. OBJECTIVE:We investigate if singl...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.3233/DMA-130991
更新日期:2013-01-01 00:00:00
abstract::Renal cell carcinoma (RCC) is one of the most common genitourinary cancers worldwide. Previous evidence shows that long noncoding RNA (LncRNA) APOC1P1 plays an important role in cancer development. However, the role of LncRNA APOC1P1 in ccRCC remains to be explored. LncRNA APOC1P1 expression in 283 ccRCC tissues and 3...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2019/2814058
更新日期:2019-12-01 00:00:00
abstract::Transforming growth factor β1 (TGF-β1) is an important mediator in Chagas disease. Furthermore, patients with higher TGF-β1 serum levels show a worse clinical outcome. Gene polymorphism may account for differences in cytokine production during infectious diseases. We tested whether TGFB1 polymorphisms could be associa...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2018/4579198
更新日期:2018-02-18 00:00:00
abstract:Aim:B7-H4 is member of the B7 family that negatively regulates the immune response, which are associated with tumor development and prognosis. The present study is aimed at examining serum B7-H4 expression and exploring its contribution to diagnosis in patients with colorectal cancer. Methods:We determined serum expre...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2018/4310790
更新日期:2018-09-27 00:00:00
abstract::Restriction fragment length polymorphism (RFLP) analyses of DR1 positive peripheral blood leukocytes DNA was carried out. The Taq I digested DNA was hybridized with cDNA probes for HLA-DR and -DQ beta genes. The DR probe detected fragments commonly observed in the DR1 specificity, whereas a new DQ-beta fragment was de...
journal_title:Disease markers
pub_type: 杂志文章
doi:
更新日期:1991-09-01 00:00:00
abstract::SIRT6 has been demonstrated to exert protective effects on endothelial cells and is closely associated with lipid metabolism, glucose metabolism, and obesity, indicating an important role in the pathogenesis and progression of coronary artery disease (CAD). Nonetheless, the biological significance of SIRT6 variants on...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2016/1628041
更新日期:2016-01-01 00:00:00
abstract:Objectives:To explore the impact of volume change in the fractionated tracking of stereotactic radiotherapy on the results of synchronous, respiratory tracking algorithm using CyberKnife. Methods:A total of 38 lung tumor patients receiving stereotactic radiotherapy at our center from March 2018 to October 2019 were co...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2020/9298263
更新日期:2020-01-11 00:00:00
abstract:BACKGROUND:Autism is among the commonest neurodevelopmental childhood disorders worldwide; its aetiology is still unknown. Iron metabolism alteration in the central nervous system is recently implicated as a risk factor for several neurodegenerative disorders. Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.3233/DMA-2011-0830
更新日期:2011-01-01 00:00:00
abstract:Objective:Several serum markers were reported to reflect the severity of pulmonary alveolar proteinosis (PAP). The aim of this study is to investigate a reliable and facile marker to access and monitor the clinical course of PAP in a large cohort. Methods:PAP patients from January 2010 to June 2018 were enrolled. Hosp...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2019/9709531
更新日期:2019-11-11 00:00:00
abstract::The human papilloma virus (HPV) associated with hyperplastic epithelium in an oral denture fibroma was examined by southern blot hybridization. Extracted DNA was hybridized with full length linear HPV type 2a, 6b, 11, 16, 18, 31 and 33 DNAs as a mixed probe only under low stringent conditions. The hybridized bands dig...
journal_title:Disease markers
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract:AIM:To assess and compare the roles of plasma and urine concentrations of neutrophil gelatinase associated lipocalin (NGAL) and Cystatin C for early diagnosis of septic acute kidney injury (AKI) in adult critically ill patients. METHODS:Patients were divided into three groups as sepsis-non AKI, sepsis-AKI and non seps...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.3233/DMA-130966
更新日期:2013-01-01 00:00:00
abstract::Nonenzymatic glycosylation or glycation of macromolecules, especially proteins leading to their oxidation, play an important role in diseases. Glycation of proteins primarily results in the formation of an early stage and stable Amadori-lysine product which undergo further irreversible chemical reactions to form advan...
journal_title:Disease markers
pub_type: 杂志文章,评审
doi:10.3233/DMA-2011-0791
更新日期:2011-01-01 00:00:00
abstract:Purpose:Liver metastasis is the final stage of cancer progression and is associated with poor prognosis. Although numerous indicators have been identified as having prognostic value for lung cancer and liver metastasis, liver metastases are still not diagnosed by imaging in many patients. To provide a more accurate met...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2020/8850873
更新日期:2020-12-09 00:00:00
abstract:BACKGROUND:Liver cirrhosis (LC) is the final stage of most of chronic liver diseases and is almost caused by chronic hepatitis B (CHB) in China. Liver biopsy is the reference method for the evaluation of liver cirrhosis. However, it is an invasive procedure with inherent risk. The aim of this study was to construct a n...
journal_title:Disease markers
pub_type: 杂志文章
doi:10.1155/2013/127962
更新日期:2013-01-01 00:00:00