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Journal of Clinical Laboratory Analysis

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https://www.readbyqxmd.com/read/30014550/the-snp43-g-a-polymorphism-in-capn10-gene-confers-an-increased-risk-of-cognitive-impairment-in-cerebral-small-vessel-disease
#1
Kai Wu, Ying Cai
BACKGROUND: Cognitive impairment, significantly reducing processing speed and executive function, is the critical consequence of cerebral small vessel disease (SVD), in which genetic variations have been studied. In this study, we explore the role of SNP43 (G/A) and SNP63 (C/T) polymorphism in the CAPN10 on cognitive impairment process in cerebral SVD. METHODS: Cerebral SVD patients (n = 224) and healthy controls (n = 187) were recruited. The relationship between frequency distribution of SNP43 (G/A) and SNP63 (T/C) genotype and allele in CAPN10 gene, and cognitive impairment was examined...
July 16, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30014524/predictive-accuracy-of-serum-total-calcium-for-both-critically-high-and-critically-low-ionized-calcium-in-critical-illness
#2
Zhi-De Hu, Yuan-Lan Huang, Mei-Ying Wang, Ge-Ji-Le Hu, Yan-Qiu Han
BACKGROUND: The accuracy of total calcium and its corrected value for predicting critically high and critically low ionized calcium in critical illness is controversial. The aim of this study was to investigate whether the concentration of total serum calcium, either corrected for albumin or not, could predict critically high or low values in critical illness. METHODS: This report describes a retrospective study using the Medical Information Mart for Intensive Care (MIMIC) III database...
July 16, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30009497/diagnostic-performance-of-ca-125-he4-and-risk-of-ovarian-malignancy-algorithm-for-ovarian-cancer
#3
Boyeon Kim, Yongjung Park, Banseok Kim, Hyo Jun Ahn, Kyung-A Lee, Jae Eun Chung, Sang Won Han
OBJECTIVE: We evaluated the diagnostic performance of CA 125, HE4, and ROMA for ovarian cancer in Koreans and set optimal cutoffs. METHOD: Serum levels of HE4 and CA 125 and the ROMA score were determined in 762 patients with benign gynecological disease and 70 with ovarian cancer. Receiver operating characteristic curves were constructed to calculate the areas under the curve (AUC). CA 125, HE4, and ROMA exhibiting maximum Youden index were determined, respectively, as the optimal cutoffs, and sensitivity and specificity were evaluated by applying those cutoffs...
July 15, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30006974/association-of-hla-dqa1-gene-polymorphisms-with-the-risk-of-children-primary-nephrotic-syndrome-in-chinese-population
#4
Bingbing Zhu, Ruifeng Zhang, Huandan Yang, Tingting Yuan, Juan Lv, Qianqian Peng, Lijun Tian
BACKGROUND: The association between gene polymorphisms and the risk of primary nephrotic syndrome (PNS) is uncovering recently. This study aims to investigate the relationship between single nucleotide polymorphisms (SNPs) on HLA-DQA1 gene and the risk of PNS. METHODS: In this study, we genotyped eight single nucleotide polymorphisms (SNPs) in the HLA-DQA1 gene in 501 PNS patients and 532 healthy people in Chinese population. Then we analyzed associations of these SNPs with the clinical features in primary nephrotic syndrome of children in Chinese population...
July 13, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30006944/genetic-diagnosis-for-x-linked-hypohidrotic-ectodermal-dysplasia-family-with-a-novel-ectodysplasin-a-gene-mutation
#5
Xin Ma, Xue Lv, Hong-Yan Liu, Xing Wu, Li Wang, Hao Li, Hai-Yan Chou
AIM: To make a gene diagnosis for a family with Ectodysplasin A (EDA) gene mutation as well as prenatal diagnosis, and report a novel EDA gene mutation. METHODS: All coding sequences and flanking sequences of EDA gene were analyzed by Sanger sequencing in the proband, and then, according to EDA gene mutation in the proband, the EDA gene sequencing was performed on the family members. Based on the results above, the pathogenic mutation in EDA gene was finally identified, which was used for making prenatal diagnosis...
July 13, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30006939/use-of-interferon-%C3%AE-release-assay-for-the-diagnosis-of-female-genital-tuberculosis-in-northwest-china
#6
Xi Lu, Chunmeng Li, Wangping Li, Xiaoheng Long, Yanfeng Fang, Ruilin Sun, Faguang Jin, Enqing Fu, Yonghong Xie
BACKGROUND: Female genital tuberculosis (FGTB) is one of the major causes of infertility. However, nonspecific manifestations and the lack of easy access to gold-standard diagnostic test render a diagnostic difficult for FGTB. The objective of this study was to determine T-SPOT.TB (an interferon-γ release assay, IGRA) performance in patients with FGTB. METHODS: A total of 213 female patients with validated T-SPOT.TB results were recruited in this retrospective study...
July 13, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/30006935/comparison-of-two-commercial-quality-control-sera-for-adrenocorticotropin-acth-used-in-elecsys-%C3%A2-immunoassay-system
#7
Zhi-Qi Wu, Hua-Guo Xu
OBJECTIVES: The purpose of our study was to investigate whether the storage time and temperature of internal quality control (IQC) material influence the result of ACTH in IQC measurements. DESIGN AND METHODS: Five levels of IQC materials from two manufacturers were tested through the precision of ACTH, the three freeze/thaw cycles, and the storage time and temperature to evaluate the stability of IQC material. All commercial control materials were simultaneously tested three times a day for five consecutive days...
July 13, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29992646/impaired-ankle-brachial-index-in-antiphospholipid-syndrome-beyond-the-traditional-risk-factors
#8
Simona Caraiola, Ciprian Jurcut, Alina Dima, Ruxandra Jurcut, Cristian Baicus, Anda Baicus
INTRODUCTION: The patients with antiphospholipid syndrome (APS) associate an increased risk of atherosclerosis. OBJECTIVE: To determine the predictors of an abnormal ankle-brachial index (ABI), surrogate measure of atherosclerosis, in patients with APS. METHODS: The ABI was measured according to standard recommendations in 106 patients. Traditional cardiovascular risk factors were assessed in all cases. A large spectrum of APS antibodies was determined in 73 patients...
July 10, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29992636/association-of-cd28-and-ctla4-haplotypes-with-susceptibility-to-primary-sj%C3%A3-gren-s-syndrome-in-mexican-population
#9
Erika Fabiola López-Villalobos, Francisco Josué Carrillo-Ballesteros, José Francisco Muñoz-Valle, Claudia Azucena Palafox-Sánchez, Yeminia Valle, Gerardo Orozco-Barocio, Edith Oregon-Romero
BACKGROUND: Primary Sjögren's syndrome (pSS) is an autoimmune disease characterized by destruction of exocrine glands as a result of T and B cells infiltrated in glandular tissue. CD28 and CTLA-4 play a crucial role in T cell activation and inhibition. The aim of this study was to associate CD28 and CTLA4 haplotypes with susceptibility to pSS in patients from western Mexico. METHODS: Polymerase chain reaction and restriction fragment length polymorphism were performed to identify CD28 and CTLA4 genotypes in 111 patients with pSS and 138 control subjects (CS)...
July 10, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29978502/association-of-single-nucleotide-polymorphisms-in-resistin-gene-with-rheumatoid-arthritis-in-a-chinese-population
#10
Hong-Miao Li, Tian-Ping Zhang, Xiao-Mei Li, Hai-Feng Pan, Dong-Chun Ma
BACKGROUND: Recent evidences have revealed that resistin is associated with the development of rheumatoid arthritis (RA). The aim of this study was to analyze the association of resistin gene single nucleotide polymorphisms (SNPs) with RA susceptibility. METHODS: In this study, we finally analyzed three resistin SNPs (rs1862513, rs3745368, and rs3745367) in 278 RA patients and 276 normal controls recruited from Chinese population using TaqMan SNP genotyping assays...
July 6, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29978492/a-promising-novel-index-in-the-diagnosis-and-follow-up-of-patent-ductus-arteriosus-red-cell-distribution-width-to-platelet-ratio
#11
Buse Özer Bekmez, Cüneyt Tayman, Mehmet Büyüktiryaki, Aslıhan Köse Çetinkaya, Ufuk Çakır, Turan Derme
BACKGROUND: The role of red cell distribution width-to-platelet ratio (RPR) has not previously been mentioned in reports on patent ductus arteriosus (PDA). Our objective was to evaluate whether RPR would have a role in the diagnosis and/or prediction of pharmacological closure of PDA. METHODS: Preterm infants' gestational age ≤30 weeks and ≤1500 g who were given first ibuprofen treatment in the first week of life for hemodynamically significant PDA (hsPDA) were included in the study...
July 6, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29978598/tumor-suppression-effect-of-targeting-periostin-with-sirna-in-a-nude-mouse-model-of-human-laryngeal-squamous-cell-carcinoma
#12
Dong Ye, Chongchang Zhou, Sijia Wang, Hongxia Deng, Zhisen Shen
BACKGROUND: The incidence of laryngeal carcinoma is increasing, however, the mechanism is not fully understood. We aimed to investigate the efficacy of periostin gene silencing by siRNA on tumor inhibition, in a novel nude mouse model of human laryngeal squamous cell carcinoma, and to explore possible inhibitory mechanisms. METHODS: Tumors were established in nude mice by transplantation of LSCC AMC-HN-8 cell line. Forty-eight nude mice were randomly divided into groups of eight each, and treated with high (1...
July 5, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29974524/clinical-relevance-of-copeptin-plasma-levels-as-a-biomarker-of-disease-severity-and-mortality-in-critically-ill-patients
#13
Alexander Koch, Eray Yagmur, Alexander Hoss, Lukas Buendgens, Ulf Herbers, Ralf Weiskirchen, Ger H Koek, Christian Trautwein, Frank Tacke
BACKGROUND: Copeptin, also termed C-terminal pre-pro-vasopressin or CTproAVP, mirrors endogenous vasopressin (anti-diuretic hormone, ADH) activity and might thereby serve as a biomarker reflecting the biological stress level. We therefore hypothesized that copeptin plasma concentrations are associated with disease severity in critically ill patients and could predict mortality. METHODS: We analyzed plasma copeptin levels in a prospective, single-center, observational study comprising 218 critically ill patients at admission to the medical intensive care unit (ICU)...
July 5, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29974517/comparison-of-whole-blood-tacrolimus-concentrations-measured-by-different-immunoassay-systems
#14
Tetsuya Kaneko, Takashi Fujioka, Yosuke Suzuki, Toshiaki Nagano, Yuhki Sato, Syunji Asakura, Hiroki Itoh
INTRODUCTION: Different measured values for tacrolimus were obtained with different automated immunoassays. We aimed to examine the differences in the blood tacrolimus concentrations measured by the major immunoassay systems commercially available in Japan. METHODS: Whole-blood samples from 118 patients were assayed by 3 commercial assays: chemiluminescent enzyme immunoassay (CLIA), affinity column-mediated immunoassay (ACMIA), and enzyme-multiplied immunoassay technique (EMIT)...
July 5, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29959793/haplotype-based-association-of-vascular-endothelial-growth-factor-gene-polymorphisms-with-urothelial-bladder-cancer-risk-in-tunisian-population
#15
Safa Ben Wafi, Amani Kallel, Mohamed Kacem Ben Fradj, Ahmed Sallemi, Sami Ben Rhouma, Meriam Ben Halima, Haifa Sanhaji, Yassine Nouira, Riadh Jemaa, Moncef Feki
BACKGROUND/AIM: Accumulated data suggested that Vascular Endothelial Growth Factor is a major mediator in vasculogenesis, angiogenesis and recently in tumorigenesis. Therefore, we aimed to investigate for the first time the association between VEGF gene variants (-2549I/D (rs35569394), -2578C/A (rs699947), and +936C/T (rs3025039)) with urothelial bladder cancer (UBC) in Tunisian population. METHODS: A total of 218 UBC patients and 204 controls were recruited and genotyped by Polymerase Chain Reaction technique...
June 29, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29959790/development-and-evaluation-of-armored-rna-based-standards-for-quantification-of-bcr-abl1-p210-p190-fusion-gene-transcripts
#16
Yu Fu, Rui Zhang, Qisheng Wu, Jiawei Zhang, Lihua Bao, Jinming Li
BACKGROUND: Standards play an important role in detection of the BCR-ABL1 fusion gene (FG) transcript. However, the standards widely used in laboratories are mainly based on plasmids or cDNA, which cannot accurately reflect the process of RNA extraction and cDNA synthesis. Therefore, we aimed to develop armored RNA-based standards for p210 and p190 BCR-ABL1FG transcripts' quantification. METHODS: Using overlapping polymerase chain reaction (PCR) technology, we first linked a segment of the p210 or p190 BCR-ABL1FG transcript with four control genes (CGs; ABL1, BCR, GUSB, and B2M) to form p210FG-CG and p190FG-CG...
June 29, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29943516/leucocyte-telomere-length-and-paroxysmal-atrial-fibrillation-a-prospective-cohort-study-and-systematic-review-with-meta-analysis
#17
Nixiao Zhang, Chong Fan, Mengqi Gong, Xue Liang, Weili Zhang, Guangping Li, Gary Tse, Tong Liu
BACKGROUND: Telomere length is a surrogate marker of biological aging. Whether telomere length predicts the risk of atrial fibrillation (AF) independently of biological aging is controversial. We conducted a cohort study to examine the relationship between telomere length and paroxysmal AF (PAF), followed by a systematic review and meta-analysis of the published literature, incorporating our own data. METHODS: DNA was extracted from peripheral blood. Leucocyte telomere length was measured by a real-time polymerase chain reaction-based method, normalized to a single copy gene, and presented as telomere/single gene ratio (t/s)...
June 26, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29943492/characteristic-and-influencing-factors-of-taqman-genotyping-calling-error
#18
Songcheng Yu, Xing Li, Xinxin Liu, Yan Wang, Fei Yu, Yuan Xue, Zhenxing Mao, Chongjian Wang, Wenjie Li
BACKGROUND: Taqman fluorescent probe was frequently applied in single nucleotide polymorphism (SNP) genotyping. However, the characteristic of calling error and the influencing factors remain unclear. METHOD: Calling errors of Taqman genotyping was evaluated systematically based on Mendelian inheritance. Twenty-two SNPs were genotyped by Taqman probe for 419 pedigrees. Mendelian genetic errors were counted for every SNP and pedigree. Cluster analysis was applied to investigate the compatibility between Taqman probes and DNA sample...
June 26, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29943480/high-frequency-of-variant-rhd-genotypes-among-donors-and-patients-of-mixed-origin-with-serologic-weak-d-phenotype
#19
Marcia Regina Dezan, Valéria B Oliveira, Çarolina Nunes Gomes, Fabio Luz, Antônio J Gallucci, Silvia L Bonifácio, Cecilia Salete, Ester C Sabino, Alexandre C Pereira, Jose E Krieger, Vanderson Rocha, Alfredo Mendrone-Junior, Carla L Dinardo
BACKGROUND: The current transfusion policy recommended for individuals with serologic weak-D phenotype is based on data derived from European-descent populations. Data referring to the distribution of RH alleles underlying weak-D phenotype among people of mixed origin are yet incomplete, and the applicability of European-based transfusion guidelines to this specific population is questionable. GOAL: To evaluate the distribution of RHD variant genotype among individuals with serologic weak-D phenotype of both African and European descent...
June 26, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29943471/mir-126-correlates-with-increased-disease-severity-and-promotes-keratinocytes-proliferation-and-inflammation-while-suppresses-cells-apoptosis-in-psoriasis
#20
Shike Feng, Lin Wang, Wang Liu, Yan Zhong, Shijun Xu
BACKGROUND: This study aimed to investigate the miR-126 expression in lesional skin and its correlation with clinical features in psoriasis patients and to explore the effect of upregulated miR-126 on cells' proliferation, apoptosis, and inflammation in human keratinocytes. METHODS: A total of 102 psoriasis patients were consecutively enrolled in this study. MiR-126 expressions in lesional skin and paired nonlesional skin were detected by quantitative polymerase chain reaction (qPCR)...
June 26, 2018: Journal of Clinical Laboratory Analysis
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