Abstract:
:Premortem diagnosis of the DiGeorge syndrome and its partial variants relies on the demonstration of a primary defect in cell-mediated immunity, generally in the setting of an infant with congenital heart disease, hypocalcemia, absence of a thymic shadow, and typical dysmorphic features. Although T-cell enumeration is considered a vital part of the diagnostic evaluation, no studies to date have addressed the issue of appropriate reference data in infants with congenital heart disease. We therefore undertook a prospective descriptive study of lymphocyte phenotype analysis in 27 nontransfused infants undergoing diagnostic cardiac catheterization. Striking differences were seen between patients and adult controls in means percentages and numbers of most lymphocyte subsets analyzed. Few differences were found in comparing the patient data to values for age-matched control infants without heart disease. The data are discussed with reference to published values for patients with partial DiGeorge syndrome. It is concluded that lymphocyte phenotype analysis in the diagnostic evaluation of patients with suspected DiGeorge syndrome must utilize appropriate reference values.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Slade HB,Greenwood JH,Beekman RH 3rd,McCoy JP Jr,Hudson JL,Pahwa S,Schwartz SAdoi
10.1002/jcla.1860030105subject
Has Abstractpub_date
1989-01-01 00:00:00pages
14-20issue
1eissn
0887-8013issn
1098-2825journal_volume
3pub_type
杂志文章abstract:BACKGROUND:Little is known about the involvement of herpes simplex virus (HSV) or Mycobacterium tuberculosis (MTB) as potentially curable causes of central nervous system (CNS) infections in sub-Saharan Africa. OBJECTIVE:In this study, we developed a PCR assay dedicated to simultaneous testing of HSV1/HSV2 and MTB in ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22719
更新日期:2019-03-01 00:00:00
abstract:OBJECTIVE:This study aimed at exploring the correlation of microRNA (miR)-497/fibroblast growth factor-23 (FGF-23) axis with major adverse cardiac and cerebral event (MACCE) occurrence in end-stage renal disease (ESRD) patients who underwent continuous ambulatory peritoneal dialysis (CAPD). METHODS:Totally, 360 ESRD p...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23220
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVES:Existing evidence suggests that impaired vitamin D metabolism contribute to the development of atherosclerosis. Aortic intima-media thickness (IMT) is an earlier marker than carotid IMT of preclinical atherosclerosis. However, there is a lack of researches on direct investigation of relevance between serum 2...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21770
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:In this study, the fresh stool samples from 254 children under 5 years of age with acute gastroenteritis which were delivered between October 2012 and December 2013 were collected. METHODS:In the stool samples, rotavirus antigens were investigated using two different immunochromatographic methods which are ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22030
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:The trends in usage of tumor markers, including CEA, SCC, NSE, Cyfra21-1, and ProGRP, in Chinese lung cancer patients in the real-world setting are not fully investigated. METHODS:A retrospective descriptive study was conducted using the database of Qilu Hospital of Shandong University, China between Januar...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23465
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Early recognition and treatment for severe drug eruption are important in improving clinical outcomes. A few studies have reported laboratory parameters to evaluate the severity of drug eruptions. This study aimed to determine the association between serum ferritin and the severity of drug eruptions. METHOD...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23043
更新日期:2020-02-01 00:00:00
abstract::Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.10062
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:Ursodeoxycholic acid (UDCA) has been widely recommended as the first-line drug for primary biliary cholangitis (PBC) in the current guidelines. However, its therapeutic effects are poor in nearly one-third of patients. The early identification and intervention of these patients is crucial for delaying diseas...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23501
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:The human epididymis protein 4 (HE4) may have high specificity in the detection of malignant diseases, making the development of an immunoassay for HE4 essential. METHODS:In our study, a fusion gene was constructed encoded with the HE4 protein. This protein was then produced in the bacterial cells (Escheric...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21906
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Platelet-reactive antibodies lead to thrombocytopenia and bleeding disorders, and diverse assays are used for their detection. In this retrospective analysis, the applicability of three different test systems was compared and antibody specificities were assessed. METHODS:Sera of 1,234 patients were tested w...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21750
更新日期:2015-05-01 00:00:00
abstract:INTRODUCTION:The pro- and anti-inflammatory cytokines play crucial role in the development and functions of placenta. Any changes in these cytokines may be associated with many pregnancy-related disorders like preeclampsia. Therefore, the present study is aimed to study the expression of pro-inflammatory (TNF-α, IL-6) ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22834
更新日期:2019-05-01 00:00:00
abstract::The Venereal Disease Research Laboratory (VDRL) test has long been considered the best serological test for the diagnosis of neurosyphilis. The goal of this study was to find out if the Rapid Plasma Reagin (RPR) could be an alternative to the VDRL. Cerebrospinal fluid (CSF) and sera samples from patients in the follow...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20254
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Newborn screening tests have been designed to identify infants with severe disorders that are relatively prevalent and treatable or controllable. Comparing to other countries, the incidence of these diseases are very high in Turkey where the rate of consanguineous marriage is high. METHODS:In this article, ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21645
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Today, the genetic and genomic research entered in a new era of high-throughput genotyping technology. However, mutagenic polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is still a choice of genotyping method in molecular epidemiological research. It has been extensively used fo...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21832
更新日期:2016-03-01 00:00:00
abstract::A flow cytometric method for quantitation of glutathione (GSH) was applied to simultaneous analysis of the major leukocyte types in peripheral blood. Cellular thiols (predominantly GSH) were stained with monochlorobimane (MCIB), and thiol fluorescence was measured with a flow cytometer. The fluorescence of the thiols ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860040503
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Automated flow cytometry-based urine analyzer is increasingly being used to identify and enumerate cells and particles in urine specimens. It measures electrical conductivity which could be transformed to osmolality. Using this machine, all urine specimens could be screened for osmolality without requiring a...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23586
更新日期:2020-09-24 00:00:00
abstract::The levels of several soluble cytokine receptors in body fluids of healthy individuals change with age. Clinical application of the measurement of the serum soluble interleukin-1 receptor type I (sIL-1RI) level depends critically on the samples used as the controls. At present, there is no information regarding the le...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20315
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:DRI cotinine assay is suitable only for screening for cotinine in urine specimens. We studied the reliability of DRI cotinine semiquantitative values by comparing them with the cotinine concentration obtained with a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. METHODS:Semiquantitative c...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21988
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Although a diagnosis of infectious diseases is essential for timely treatment, the performance of diagnostic tests has been hardly evaluated due to variable results that are influenced by multiple factors in different conditions. In the present study, the performance of the Alinity i system, which is a newly...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23671
更新日期:2020-12-07 00:00:00
abstract:BACKGROUND:Alport syndrome (ATS) is a hereditary nephritis with hereditary and clinical heterogeneity; the early clinical symptoms are atypical, which can easily lead to misdiagnosis. The proband, a 6-year-old girl, was found to have microscopic hematuria, proteinuria, and visual impairment at about 5 years old; the re...
journal_title:Journal of clinical laboratory analysis
pub_type:
doi:10.1002/jcla.23558
更新日期:2020-09-06 00:00:00
abstract:BACKGROUND:It is generally believed that the lower limit of postprandial plasma glucose is the same or higher than that of fasting plasma glucose (FPG). This study aimed to investigate the relationship between 2-h postprandial plasma glucose (2-hPG) and FPG. Insulin sensitivity and β-cell function were also evaluated. ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23404
更新日期:2020-09-01 00:00:00
abstract::The experimental and clinical effectiveness of nasal salmon calcitonin (SCT) for treatment of osteoporosis in humans has been well established, but none is known yet about the pharmacokinetic property in relation to therapeutic efficacy, especially when used in a therapeutic dose range. This preclinical study was desi...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(sici)1098-2825(1997)11:3<129::aid-jcla2>3
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Diverse and circumstantial evidence suggests that schizophrenia is a neurodevelopmental disorder. Genes contributing to neurodevelopment may be potential candidates for schizophrenia. The human SOX11 gene is a member of the developmentally essential SOX (Sry-related HMG box) transcription factor gene family ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23306
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:So far, there has been no tool to estimate activity at diagnosis and predict all-cause mortality in patients with ANCA-associated vasculitis (AAV). Hence, we determined the initial predictors of them in patients with AAV. METHODS:We retrospectively reviewed the medical records of 182 patients with AAV. Seve...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23022
更新日期:2020-01-01 00:00:00
abstract::Adenosine deaminase (ADA) exists as two isoenzymes, ADA(1) and ADA(2). It appears that the ADA(2) isoenzyme originates mainly from monocytes and macrophages. In tuberculous pleural effusions most of the ADA activity consists of ADA(2). The aim of this prospective study was to analyse ADA isoenzymes in the CSF of patie...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1033
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:A-kinase-interacting protein 1 (AKIP1) has been reported as an oncogenetic factor in multiple cancers; however, no study has reported its role in non-small cell lung cancer (NSCLC) yet. This study aimed to evaluate the expression of AKIP1, and its correlation with tumor characteristics as well as prognosis i...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23128
更新日期:2020-04-01 00:00:00
abstract::Rare abnormal haemoglobin (Hb) often poses a problem in the diagnosis of relative electrophoresis mobility. The rare neutral Hbs interact with the Hb S and thus can increase the severity of sickle cell anaemia. In the present study, we investigated the use of reversed-phase high-performance liquid chromatography (RP-H...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20007
更新日期:2004-01-01 00:00:00
abstract::The objectives of this research were to establish an automatic analysis method for the determination of serum argininosuccinate lyase (ASL) and to investigate the value of serum ASL test in the diagnosis of various liver disorders. According to the chemical reaction catalyzed by ASL, an enzyme-coupled reaction system ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20245
更新日期:2008-01-01 00:00:00
abstract::There is an increasing demand for genetic testing of patients with hypercoagulability. We have developed a multiplex-polymerase chain reaction (PCR) technique that incorporates the state-of-the art of genetic testing for thrombosis mutations (Factor V Leiden [FVL] and G20210A F2 and C46T F12). The sequences are detect...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Neurofilaments are the major cytoskeletal components of neurons, and cell injury leads to their release into the surrounding area. The aim of this study was to compare the cerebrospinal fluid (CSF) and serum (S) concentrations of neurofilament light chains (NFLs) and phosphorylated neurofilament heavy chains...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22948
更新日期:2019-09-01 00:00:00