Abstract:
BACKGROUND:Nager syndrome is a rare genetic syndrome characterized by craniofacial and preaxial limb anomalies. Haploinsufficiency of the SF3B4 gene has been identified as a significant reason for Nager syndrome. Treacher Collins syndrome (TCS) has similar facial features; however, the TCOF1, POLR1D, and POLR1C genes have been reported as the critical disease-causing genes. Similar phenotypes make it easy to misdiagnose. CASE REPORT:In this report, we have presented a case of one newborn with acrofacial dysostosis, who was first diagnosed with TCS. Expanded next-generation sequencing eventually detected a (c.1A>G) heterozygous mutation in the SF3B4 gene at chr1:149899651 that was confirmed by Sanger sequencing. Combined with his preaxial limb anomalies discovered after his death, a diagnosis of Nager syndrome was made. CONCLUSIONS:This report presents one patient with Nager syndrome who was initially misdiagnosed with TCS. Correct genetic testing will be beneficial to future prenatal diagnosis.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Zhao J,Yang Ldoi
10.1002/jcla.23426subject
Has Abstractpub_date
2020-09-01 00:00:00pages
e23426issue
9eissn
0887-8013issn
1098-2825journal_volume
34pub_type
abstract::For many years, fluorescence polarization immunoassay (FPIA) on the TDx analyzer has been used for determination of free phenytoin concentration. Recently Abbott Laboratories decided to discontinue the TDx analyzer and related assays on this analyzer. Free phenytoin assay is also available from Roche Diagnostics for a...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21536
更新日期:2013-01-01 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:BACKGROUND:Previous studies suggested that adiponectin (APN) could ameliorate ischemia/reperfusion injury and endothelial dysfunction in patients with acute myocardial infarction. However, the relationship between serum APN level and coronary flow after primary percutaneous coronary intervention (PPCI) in patients with...
journal_title:Journal of clinical laboratory analysis
pub_type: 临床试验,杂志文章
doi:10.1002/jcla.22864
更新日期:2019-06-01 00:00:00
abstract::This study compared the use of conventional urine microscopy, the KOVA system, Neubauer hemacytometry, and the Yellow IRIS for the determination of white blood cell (WBC) and red blood cell (RBC) counts in urine samples. Both KOVA WBC and RBC counts correlated better with the IRIS counts than with conventional microsc...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860060604
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:To study the role of toll-like receptor 4 (TLR4) and MicroRNA-155 (miR-155) in the peripheral blood mononuclear cell (PBMC)-mediated inflammation in coronary slow flow (CSF) and coronary arteriosclerosis. METHODS:Patients were divided into acute coronary syndrome (ACS), stable angina pectoris (SAP), CSF, an...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22232
更新日期:2018-02-01 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 cell counters have become more and more sophisticated with passing years. The numerical and graphic data both provide useful clues for suspecting a diagnosis especially when the workload is very high. AIM:We present our experience of useful information provided by graphic displays of an automated ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22392
更新日期:2018-06-01 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::Mycobacterium avium is an important intracellular pathogen, particularly in AIDS patients. It also shows the second frequency among nontuberculous mycobacteria infections in Korea. Point mutations of domain V region of the 23S rRNA gene has been known to confer clarithromycin resistance to M. avium. In order to isolat...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20403
更新日期:2011-01-01 00:00:00
abstract::During the past few years, interest in xenotransplantation of porcine islets of Langerhans for the future therapy of type I diabetes has increased markedly. Therefore, we established a semiautomated digestion method for isolating islets from the porcine pancreas. However, although the isolation technique was standardi...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860080611
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Liver biopsy is recommended in the majority of patients with chronic viral hepatitis for fibrosis evaluation. Because of the potential risks of liver biopsy, many studies related to non-invasive biomarkers of hepatic fibrosis have been performed. We aimed to assess the diagnostic value of serum biglycan as a...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22109
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:The GABA-A receptor signaling pathway regulates proliferation, differentiation, apoptosis, and responses to overt DNA damage during embryonic development. METHODS:To analyze the gene expression after intracytoplasmic sperm injection (ICSI) and in in vivo mouse embryos, the global pattern of gene expression ...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23584
更新日期:2020-09-20 00:00:00
abstract::Antibodies to neutrophil cytoplasmic antigens (ANCA) targeted toward granule enzymes have been recognized as a valuable diagnostic tool in the detection of Wegener's granulomatosis and systemic vasculitides. However, the most commonly used method of detection, the indirect immunofluorescence assay, is prone to false-p...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(sici)1098-2825(1998)12:1<54::aid-jcla9>3.
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:The association between genetic variations of vascular endothelial growth factor (VEGF) gene and the risk for atherosclerosis has been hypothesized. We aimed to assess the relationship between rs2010963 (+405 C/G) polymorphism and presence, severity, and outcome of coronary artery disease (CAD) in an Iranian...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22066
更新日期:2017-07-01 00:00:00
abstract::We studied antibody production in serial serum samples from patients with acute Epstein-Barr virus (EBV) and cytomegalovirus (CMV) infections. Sera were analyzed both by enzyme-linked immunosorbent assay (ELISA) using a synthetic peptide (P62) derived from the glycine-alanine repeating region of the Epstein-Barr nucle...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860040613
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Hypoalbuminemia has been proven to be a powerful predictor of mortality in adult patients. However, prognostic value of serum albumin in neonates is not clear. OBJECTIVE:To assess the relationship between serum albumin level within the first day of life and outcome in preterm infants born before 32 weeks of...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21949
更新日期:2016-11-01 00:00:00
abstract::C-peptide is secreted in equimolar concentrations with insulin, and is often measured to assess pancreatic beta-cell function. C-peptide analysis is most often performed by radioimmunoassay (RIA) which has several disadvantages. We evaluated an automated, chemiluminescent immunoassay for C-peptide in terms of precisio...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::Multidrug resistance (MDR) is a multifactorial phenomenon and the role of these proteins in generating the MDR phenotype is controversial. With this in mind, this review compiled the current data on the role of ABCB1, ABCC1, and LRP proteins in the prognosis of hematologic neoplasms and their influence on the choice o...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章,评审
doi:10.1002/jcla.21563
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:MYBPC3 mutations have been described in dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). A mutation, c.3373G>A, has been reported to cause autosomal recessive form of HCM. Here, we report that this mutation can cause autosomal dominant form of DCM. METHODS:Next-generation sequencing using...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22419
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND:Screening tests are available to determine immunity to vaccine-preventable diseases, such as mumps and rubella. We aimed to define better assay for detecting immune status of health care personnel to vaccine-preventable diseases. METHODS:Mumps and rubella antibodies of health care personnel at Shimane Unive...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21621
更新日期:2013-09-01 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:OBJECTIVE:This study aimed to investigate the predictive value of microRNA-146b (miR-146b) on acute respiratory distress syndrome (ARDS) risk, and the correlation of miR-146b with disease severity and 28-day mortality in sepsis patients. METHODS:A total of 104 sepsis patients and 100 healthy controls (HCs) were consec...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.23510
更新日期:2020-08-26 00:00:00
abstract:BACKGROUND:Low concentration C-reactive protein (CRP) has favorable prognostic significance in patients with cardiovascular risks. METHODS:We compared the wr-CRP method with the hs-CRP method both on Roche Cobas c702 analyzer for the determination of low CRP concentration (<20 mg/L) including 200 patients treated in C...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22957
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:We evaluated the effects of pneumatic tube system (PTS) transport rates and distances on routine hematology and coagulation analysis. PTS effects on centrifuged blood samples were also examined. METHOD:The study was completed at Dicle University Hospital, which has the longest pneumatic tube system in Turke...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21484
更新日期:2012-02-01 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:BACKGROUND:Cell-free DNA (cfDNA) in the plasma of patients with both malignant and benign breast lesions was analyzed to determine whether the findings may have diagnostic and prognostic implications and to analyze the association between the levels of cfDNA and prognostic parameters. METHODS:Plasma samples were obtai...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21548
更新日期:2012-11-01 00:00:00
abstract::The human insulin domains, signal peptide, B-chain, C-peptide, and A-chain, were highly expressed in Escherichia coli as recombinant proteins N-terminally fused to glutathione-S-transferase and a histidine-hexapeptide. The recombinant proteins were purified from insoluble cell fraction by affinity chromatography using...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.1860080309
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVES:The objectives of this article are to investigate the serum lipid hydroperoxide (LOOH) levels and paraoxonase-1 (PON1) and arylesterase (ARE) activity in patients with lung, breast, and colorectal cancer. DESIGN AND METHODS:Serum PON1 and ARE activities and LOOH levels were measured in 110 patients with can...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21503
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:There is a high prevalence of Hepatitis B virus (HBV) infection in China. The aim of this article is to reveal the HBV prevalence and its outcome in southern China by analyzing the HBV serum markers and their relationship to HBV genotype. METHODS:HBV serum markers, HBV-DNA and Alanine aminotransferase (ALT)...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21573
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Blood gas analysis and blood lactate measurement have important roles in patient management. Point-of-care (POC) testing simplifies and provides rapid blood gas and lactate measurements. This study aimed to compare pH, pCO2 , pO2 , and lactate measurements between a POC device and a benchtop blood gas analyz...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22885
更新日期:2019-06-01 00:00:00