Abstract:
:The discovery of the causal association of adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiency with some forms of primary immunodeficiency disease had led to new approaches to therapy, such as enzyme replacement. In ADA deficiency, bone marrow transplantation remains the primary method of choice. If no suitable bone marrow donor is available, enzyme replacement with irradiated erythrocyte transfusions should be considered. The latter therapy may be sustained by treatment with thymic factors. In ADA deficiency, bone marrow transplantation and, in about 50% of the cases, also enzyme replacement, may result in clinical and neurological improvement with concurrent (partial) restoration of immune function and (partial) disappearance of the metabolic abnormalities present before treatment. In PNP deficiency, enzyme replacement has been evaluated carefully in only two patients. The results disclose profound changes in the purine excretion patterns after each transfusion, and a slow but partial restoration of in vitro T cell function. Treatment of ADA and PNP deficiency with continued enzyme replacement by erythrocyte transfusions has certain risks which hopefully can be overcome in the near future by loading the patient's own blood cells with the missing enzyme.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Zegers BJ,Stoop JWdoi
10.1016/s0009-9120(83)94381-3subject
Has Abstractpub_date
1983-02-01 00:00:00pages
43-7issue
1eissn
0009-9120issn
1873-2933pii
S0009-9120(83)94381-3journal_volume
16pub_type
杂志文章,评审abstract::We report the evaluation of four new commercially available sensitive assay kits for determination of thyrotropin (TSH) and their clinical utility in normal subjects and patients with thyroidal and non-thyroidal illnesses. The sensitivity for the reliable detection of serum TSH by these methods ranged from 0.1-0.4 mU/...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(87)80077-2
更新日期:1987-10-01 00:00:00
abstract::A study conducted on 228 diabetic patients has shown a significant positive association between serum gamma-glutamyl transpeptidase (GGT) and triglyceride levels. Both fall with treatment, the most marked reduction occurring in patients on insulin. We suggest that the association between serum GGT and triglyceride lev...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(76)80059-8
更新日期:1976-08-01 00:00:00
abstract:OBJECTIVE:To evaluate if peak characteristics, the retention time, and percentage of total hemoglobin of an unknown peak on the Bio-Rad VARIANT II Hb A1c method may be used to establish a tentative identification of hemoglobin variants. METHOD:The peak characteristics, retention time, and percentage of total hemoglobi...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2004.11.004
更新日期:2005-03-01 00:00:00
abstract::The solid-phase radioimmunoassay procedures for serum digoxin and cortisol with the Concept-4 were evaluated for specificity, correlation with other radioimmunoassay procedures, parallelism, recovery, carryover, and precision. 1. The detection limits of the digoxin and cortisol assays were 10 pg/tube and 40 pg/tube, r...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(79)80136-8
更新日期:1979-08-01 00:00:00
abstract:OBJECTIVE:This study was conducted to investigate the potential role of intravascular oxidative stress in inexplicable episodes of coronary artery spasm (CAS) during coronary angiography (CAG). DESIGN AND METHODS:Serial patients with stable angina scheduled for routine CAG were prospectively evaluated. Patients with c...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.01.021
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVES:The relative proportion in percentage of the isoenzyme A of beta-hexosaminidase (Hex) is the single discriminatory function most frequently used for the biochemical screening of heterozygote Tay-Sachs disease carriers. It has been suggested that the assay of the Hex isoenzymes in homogeneous cell preparation...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.05.016
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVES:The International Federation of Clinical Chemistry (IFCC) initiated a pilot study, with cortisol as an example, that aims to implement the concept of standardization of hapten immunoprocedures on the basis of metrological traceability. In fact, this standardization concept comes down to correct calibration o...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00037-x
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVES:We investigated the relationships of biomarkers of various pathophysiologic pathways including high-sensitivity C-reactive protein (hs-CRP), lipocalin-2 (LCN2), myeloperoxidase (MPO) and matrix metalloproteinases 9 (MMP9) with mortality in stroke patients. DESIGN AND METHODS:hs-CRP, LCN2 and MPO concentrati...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.06.014
更新日期:2012-11-01 00:00:00
abstract::In order to provide quality control serum in the hypoglycemic range, pooled human serum was treated with yeast. Yeast destroyed about 50% of the serum glucose in about 4 1/2 hrs. The yeast-treated serum remained suitable for quality control of the most commonly analyzed clinical chemistry constituents which showed onl...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(80)90562-7
更新日期:1980-02-01 00:00:00
abstract::The paraoxonases (PON1, PON2 and PON3) are an enzyme family with a high structural homology. All of them have lactonase activity and degrade lipid peroxides in lipoproteins and cells. As such, they play a role in protection against oxidation and inflammation. Infectious diseases are often associated with oxidative str...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2017.04.016
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:We aimed to establish correlations for the levels of follicle-stimulating hormone (FSH), estrone (E1) and estradiol (E2) between urine and serum in premenopausal and postmenopausal women using immunoassays. METHODS:In this study of 92 women (61 postmenopausal, 31 premenopausal), both urine and blood specimen...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/j.clinbiochem.2019.08.009
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVES:In 2004, a novel grading system for papillary non-invasive bladder cancer was introduced; low grade (LG) and high grade (HG) in lieu of the former G1, G2, G3. This change allowed for increased reproducibility as well as diminished interobserver variability in histopathological grading among individual pathol...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.09.013
更新日期:2012-01-01 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:Proinflammatory cytokines, matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) play a role in left ventricular (LV) structural remodeling. We aimed to investigate the effects of cardiac resynchronization therapy (CRT) on serum levels of amino-terminal prohormone B-type natriuretic peptide (N...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.11.002
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVES:The aims of this study were to develop a new technique for determination of iron content of serum ferritin (ICF, micromol Fe/mg protein) and to investigate relations between ICF and clinical status in patients with hyperferritinemia. METHODS:ICF values were determined by a combination of immunoprecipitation...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00380-6
更新日期:2002-10-01 00:00:00
abstract::High-molecular-weight von Willebrand factor (vWf) multimers were separated from their smaller multimers by molecular-sieve chromatography and were measured by several sandwich enzyme-linked immunosorbent assays (ELISA) with monoclonal antibodies (moABs) against human vWf. The epitopes of these moABs were mapped partia...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(94)90022-1
更新日期:1994-04-01 00:00:00
abstract:OBJECTIVES:A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. DESIGN AND METHODS:Usage of a temperature gradient against running time was tested with 33 identified mutations in the LDL receptor gene. Most of the mutations were missense. RESULTS:32 mut...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.02.002
更新日期:2005-06-01 00:00:00
abstract::We describe a fast and efficient method for the isolation of drugs from blood serum by use of the DU PONT PREP I Automated Sample Processor and octadecyl bonded phase columns. Drugs are selectively adsorbed onto C18 bonded phase and eluted with methanol. The recovered residue is essentially free of sample matrix chrom...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(81)91245-5
更新日期:1981-08-01 00:00:00
abstract:OBJECTIVES:There has been growing interest in the use of serum B-type natriuretic peptide (BNP) and the N-terminal segment of its pro-hormone (NT-proBNP) as biomarkers for cardiac disease. The aim of this review is to summarize the current state of knowledge regarding BNP and NT-proBNP measurement in the pediatric popu...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2005.12.004
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Vitamin D (25-OHD) physiological functions have been expanded beyond traditional bone health, increasing the importance of its estimation in Laboratory Medicine, which renders validation of available methods mandatory. AIMS AND METHODS:We evaluated some preanalytical and analytical aspects of 25-OHD determi...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.08.003
更新日期:2012-12-01 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:OBJECTIVES:The relationship between glycated hemoglobin A1c (HbA1c) and average glucose has been described by the empirically derived estimated average glucose (eAG) equation in the A1c-Derived Average Glucose (ADAG) study, with extensive calibration efforts in four secondary reference HbA1c methods. It is not known if...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.02.012
更新日期:2015-05-01 00:00:00
abstract::Proteomics, the analysis of expressed proteins, has been an important developing area of research for the past two decades [Anderson, NG, Anderson, NL. Twenty years of two-dimensional electrophoresis: past, present and future. Electrophoresis 1996;17:443-453]. Advances in technology have led to a rapid increase in app...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2004.09.002
更新日期:2004-11-01 00:00:00
abstract::Core Alzheimer's Disease (AD) biomarkers are the cerebrospinal fluid (CSF) proteins amyloid β42 and β40, and the tau proteins, total and phosphorylated. Their use is recommended by research guidelines for diagnostic purpose and for stratification of patients for clinical trials. However, novel potential biomarkers are...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2019.08.008
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To statistically compare and evaluate commonly used methods of estimating reference intervals and to determine which method is best based on characteristics of the distribution of various data sets. DESIGN AND METHODS:Three approaches for estimating reference intervals, i.e. parametric, non-parametric, and r...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2017.07.005
更新日期:2017-12-01 00:00:00
abstract::The Institute of Medicine (IOM) report (1999) stated that the prevalence of medical errors is high in today's health care system. Some specialties in health care are more risky than others. A varying blunder/error rate of 0.1-9.3% in clinical diagnostic laboratories has been reported in the literature. Many of these e...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2004.08.009
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND AND AIM:TGF-β1 has been previously reported to be involved in the pathogenesis of atherosclerosis. The aim of the present study was to assess whether functional gene polymorphisms of TGF-β1 and its key receptor TGF-β receptor type II (TGFBR2) contribute as risk factors to the onset and severity of atheroscle...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.05.022
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVES:High-resolution melting analysis has been validated for screening several genes of clinical significance. We evaluated whether it would be useful for detecting mutations in the LDL receptor gene (LDLR). DESIGN AND METHODS:We analysed 60 samples heterozygous for different LDLR sequence variants, and compared...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.11.015
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVES:To examine the diagnostic validity of bone alkaline phosphatase (BAP) in serum (a marker of bone formation) and of urinary excretion of pyridinium cross-links (PYR) (a marker of bone resorption) for detection of bone metastases. DESIGN AND METHODS:Two heterogeneous immunoassays were employed for determinati...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(95)96621-a
更新日期:1995-10-01 00:00:00
abstract:OBJECTIVES:We sought to investigate whether heart-type fatty acid binding protein (H-FABP), a new marker of myocardial necrosis, increases in relation to elective cardioversion of atrial fibrillation (AF). METHODS:We studied 25 consecutive patients (61 ± 16 years old, 21 men) admitted to our hospital for elective card...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.05.029
更新日期:2011-08-01 00:00:00