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 results of renal pathological examination revealed mesangial hyperplasia and IgA deposition. The proband's father exhibited gross hematuria, eye swelling, and bilateral hearing loss after the age of 5, renal function progressively decreased, and he underwent right renal allograft at the age of 23 due to renal failure. The proband and her father were clinically diagnosed as IgA nephropathy and chronic glomerulonephritis, respectively. METHODS:For proband, targeted exome capture sequencing was performed using the Targeted Exome Capture Kit; this kit targets 162 genes known to cause renal diseases. The identified mutation was confirmed and analyzed for cosegregation by Sanger sequencing in other family members whose gDNA was available. RESULTS:Targeted exome capture sequencing revealed a novel heterozygous variant (NM_000495, c.697delG, p.G233fs) in the COL4A5 gene of the proband; the variant was inherited from her father. The variant was likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. CONCLUSION:In this study, we first report a c.697delG mutation of COL4A5 in two patients presumed IgA nephropathy and chronic glomerulonephritis. This study emphasizes on the diagnostic value of next-generation sequencing for hereditary kidney diseases to help in their timely and cost-effective diagnosis, determine appropriate treatments, and promote genetic counseling.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Zhu Q,Zhou C,Wang Jdoi
10.1002/jcla.23558subject
Has Abstractpub_date
2020-09-06 00:00:00pages
e23558eissn
0887-8013issn
1098-2825pub_type
abstract：:In this study, the effect of the synthetic glucocorticoid hormone dexamethasone (DXM) on HSV replication was studied in a DXM receptor-positive mouse neuroblastoma (NB) cell line. In cells treated with 10(-7) M DXM and then infected with HSV, there was a statistically significant 9-18-fold increase in the amount of vi...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860080304
更新日期：1994-01-01 00:00:00
abstract：BACKGROUND:Technical innovation of autoimmune blistering dermatoses (ABDs) diagnosis aimed at multiplex approach. Two multiparametric ELISA tests are commercially available for ABDs serology. The aim was to compare diagnostic accuracy of multiparametric and monospecific ELISAs and to examine the diagnostic value/agreem...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22336
更新日期：2018-05-01 00:00:00
abstract：:Second- and higher-order degradation reactions sometimes cannot be approximated with linear or exponential relationships and need to be appropriately modeled. Events above the COULTER HmX Analyzer white blood cell (WBC) counting threshold were recorded for the HmX PAK reagent system stored at five elevated temperature...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.10043
更新日期：2002-01-01 00:00:00
abstract：BACKGROUND:Fork head/winged helix transcription factor (Foxp3) plays a pivotal role in regulatory T (Treg) cells. The present study aimed to assess the association of Crohn's disease (CD) with Foxp3 polymorphisms and its colonic expression in Chinese patients. METHODS:The Foxp3 polymorphisms, rs3761547, rs2232365, rs2...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22835
更新日期：2019-05-01 00:00:00
abstract：INTRODUCTION:Neonatal polycythemia may result in increased cytokine production. We aimed to investigate whether polycythemia and partial exchange transfusion (PET) affect interleukin-6 (IL-6) response pattern in early neonatal period. METHODS:Ninety-four newborns, 57 with polycythemia (Group 1) and 37 as control group...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.20413
更新日期：2010-01-01 00:00:00
abstract：:Medical treatment for Helicobacter pylori (Hp) infection is now recommended in several types of gastroduodenal disease, and its success is usually monitored by hystology. The end-points of our work were to identify the most suitable serum index of Hp eradication among pepsinogen A (PGA), pepsinogen C (PGC), PGA/PGC ra...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/(SICI)1098-2825(1996)10:1<1::AID-JCLA1>3.0
更新日期：1996-01-01 00:00:00
abstract：:We described an automated enzymatic assay for conjugated bilirubin (Bc) in serum using the Iatro D-Bil kit, with bilirubin oxidase (EC 1.3.3.5 BOD) from Myrothecium species. The specificity of the enzyme in the Iatro D-Bil kit was examined by analyzing unconjugated bilirubin (Bu), delta bilirubin (Bdelta), and Bc with...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/(sici)1098-2825(1999)13:5<219::aid-jcla5>3
更新日期：1999-01-01 00:00:00
abstract：BACKGROUND:The pulmonary surfactant especially lipids in amniotic fluid can reflect the development stage of fetal lung maturity (FLM). However, the conventional lecithin/sphingomyelin (L/S) ratio method by thin layer chromatography (TLC) is insufficient and inconvenient for FLM prediction in clinical practice. METHOD...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.23109
更新日期：2020-04-01 00:00:00
abstract：OBJECTIVE:To explore the role of serum periostin in patients with aneurysmal subarachnoid hemorrhage (aSAH). METHOD:We conducted a retrospective study and 124 aSAH patients treated in Shenzhen People's hospital during March 1st 2015 to December 30th 2016 were included. Baseline information, neurological status and cli...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22389
更新日期：2018-06-01 00:00:00
abstract：BACKGROUND:Modern automated laboratory hematology analyzers allow the measurement of over 30 different hematological parameters useful in the diagnostic and clinical interpretation of patient symptoms. They use different methods to measure the same parameters. Thus, a comparison of complete blood count made by Mindray ...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.21992
更新日期：2016-11-01 00:00:00
abstract：:Numerous detection methods for Helicobacter Pylori (H. pylori) have been developed with varying degrees of purported diagnostic utility. We have developed a rapid nonradioactive in situ hybridization (ISH) method for H. pylori detection in paraffin-embedded tissue and assessed its relative diagnostic performance by re...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：BACKGROUND:Toxocariasis is the clinical term that is applied to infection in the human host with Toxocara species larvae. Serological tests are important tools for the diagnosis of toxocariasis. The aim of this study was to evaluate the excretory-secretory (ES) antigens of T. cati larvae using enzyme-linked immunosorbe...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.21844
更新日期：2016-05-01 00:00:00
abstract：BACKGROUND:Essential trace elements are vital to human health. In this study, our aim was to establish reference intervals of and to evaluate relationships among Ca, Fe, Cu, Mg, and Zn for children. METHODS:We collected blood samples of 3210 children aged 0-14 years from Lu'an, China, and concentrations of the above e...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22043
更新日期：2017-03-01 00:00:00
abstract：BACKGROUND:Circular RNAs (circRNAs) are a special class of endogenous noncoding RNAs that have numerous biological functions in normal situation and diseases including cancers. However, the clinical significance of circRNAs in gastric cancer (GC) remains largely unknown. Here, we chose two representative circRNAs, hsa_...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22984
更新日期：2019-11-01 00:00:00
abstract：:Positive predictive values for the diagnosis of systemic lupus erythematosus (SLE) were determined for two antinative DNA assays: a Farr-type radioimmunoassay (RIA) and a solid-phase enzyme immunoassay (EIA). The study population consisted of all patients whose EIA anti-DNA results were positive (greater than 250 IU) ...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860030503
更新日期：1989-01-01 00:00:00
abstract：OBJECTIVE:To investigate consistency of lymphocyte immunophenotype between labial gland and peripheral blood in patients with primary Sjogren's syndrome (pSS). METHODS:Seventy-one pSS patients and 35 patients with maxillofacial trauma were included in the study. Based on the ratio of CD20 to CD3 in labial gland from 7...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.22585
更新日期：2018-11-01 00:00:00
abstract：OBJECTIVE:To develop a reliable and specific method for rapid prenatal diagnosis of Trisomy 21 (Down syndrome). METHODS:We established a dual color competitive fluorescent Polymerase Chain Reaction (PCR) to measure the gene dosage of Down syndrome critical region (DSCR), a single copy sequence in chromosome 21. Anothe...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.21593
更新日期：2013-05-01 00:00:00
abstract：BACKGROUND:The performances of the QMS(®) Teicoplanin immunoassay recently developed on Cobas(®) 6000/8000 systems were evaluated and compared to a fluorescence polarization immunoassay (FPIA) [Teicoplanin Innofluor(®) Assay (Thermo Fisher Scientific, Indianapolis, IN)] on FLX analyzer (Abbott Laboratories, Abbott Park...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.21567
更新日期：2013-03-01 00:00:00
abstract：:The pathogenic role of immune-mediated mechanisms in chronic hepatitis C virus (HCV) infection has not yet been elucidated. In this study, we report different cytokine expression profiles from hemodialysis (HD) and non-HD HCV (+) patients. IL-1beta, IL-2, IL-4, IL-6, TNF-alpha, and TGF-beta1 serum levels, and liver bi...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.2060
更新日期：2002-01-01 00:00:00
abstract：BACKGROUND:Primary adrenal lymphoma (PAL) is an infrequent malignant disease and there is no consensus classification or specialized treatment for it. However, PAL has been observed to have worse prognosis compared with other extrarenal malignant lymphomas and diffuse large B-cell lymphoma presents as the most common s...
journal_title：Journal of clinical laboratory analysis
pub_type：
doi：10.1002/jcla.23173
更新日期：2020-05-01 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：:Using a fully automated reticulocyte counter, the roles of the reticulocyte count with maturation in pancytopenia were evaluated. Different groups of pancytopenia including aplastic anemia, infiltrative marrow disorder, hypersplenism, and megaloblastic anemia were recruited. All patients had bone marrow examinations f...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860070612
更新日期：1993-01-01 00:00:00
abstract：:An immunoenzymometric assay (IEMA) for a new CA125-like antigen, CA602, was developed. Five monoclonal antibodies raised against a human ovarian carcinoma cell line could detect their respective antigens in the sera of ovarian carcinoma patients. The antigen levels detected in serum by the various antibodies correlate...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860060204
更新日期：1992-01-01 00:00:00
abstract：AIM:To evaluate, retrospectively, the frequency of autoantibodies of antiphospholipid syndrome (APLS) in Tunisian patients with primary biliary cirrhosis (PBC). PATIENTS AND METHODS:We analyzed 80 PBC sera and 80 sera from blood donors. ELISA was used to determine the frequency of antibodies against cardiolipin (aCL I...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.21723
更新日期：2015-01-01 00:00:00
abstract：:Hemoglobin F (HbF) is an effective inhibitor of HbS polymerization. Hydroxyurea (HU) is used to increase HbF synthesis and improve the clinical course of sickle cell disease (SCD) patients. We studied a series of laboratory parameters concerning HbF production and reticulocyte response, and compared data between two g...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.10070
更新日期：2003-01-01 00:00:00
abstract：:A method that could be facilitated for the quantitation and qualitation of gangliosides in human plasma was developed and applied in the present study for characterization of ganglioside patterns in plasmas of patients with neoplastic diseases including gastric cancer, adult T-cell leukemia (ATL), and acute lymphocyti...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860030508
更新日期：1989-01-01 00:00:00
abstract：:Determination of free digoxin levels in patients treated with digoxin immune FAb has long been a problematic area in clinical laboratory testing. The older radioimmunoassays resulted in inaccurate and variable results due to the competition of the administered drug with the radioactively labelled forms. The 1995 Physi...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.1860090612
更新日期：1995-01-01 00:00:00
abstract：:The importance of the neutrophil function to host defense and tissue damage has been widely recognized. However, the usefulness of the correlation analysis between phagocytic activity and superoxide production of neutrophils is unknown. We investigated the relationship by histochemical NBT assay using rats and mice ex...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/(SICI)1098-2825(1996)10:6<458::AID-JCLA25>
更新日期：1996-01-01 00:00:00
abstract：:Staphylococcus lugdunensis is an unusually virulent coagulase-negative species, associated with severe infections. The present report describes the development of a single-step, species-specific PCR protocol for S. lugdunensis identification. fbl gene, encoding a fibrinogen-binding adhesin, was exploited and assessed ...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/jcla.20352
更新日期：2010-01-01 00:00:00
abstract：:Previously, an ultrasensitive enzyme immunoassay (immune complex transfer enzyme immunoassay) for p24 antigen of HIV-1 was developed. The immune complex comprising 2,4-dinitrophenyl-biotinyl-bovine serum albumin-rabbit anti-p24 Fab' conjugate, p24 antigen, and rabbit anti-p24 Fab' -beta-D-galactosidase conjugate was t...
journal_title：Journal of clinical laboratory analysis
pub_type： 杂志文章
doi：10.1002/(SICI)1098-2825(1996)10:5<302::AID-JCLA11>
更新日期：1996-01-01 00:00:00
