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1.
BMC Infect Dis ; 20(1): 318, 2020 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-32357835

RESUMO

BACKGROUND: Sichuan is a province located in southwestern China, which have a higher incidence of tuberculosis (TB). This study aimed to analyze the epidemiological and clinical characteristics, as well as drug resistance in culture-confirmed children with Tuberculosis meningitis (TBM) in Southwest of China. METHODS: We performed a retrospective study on children (< 14 years old) with cerebrospinal fluid (CSF) culture-confirmed TBM between January 2013 and December 2018 at Public Health Clinical Center of Chengdu (PHCCC). Mycobacterium tuberculosis (MTB) drug sensitivity testing (DST) was performed using the MicroDST™ method. The age, gender, family history of tuberculosis, status of Bacillus Calmette-Guérin (BCG) vaccination, residential areas information, clinical, laboratory, and radiological features were recorded. Data were analyzed using SPSS Statistics Client 25.0, and the change in drug resistance rate was examined using the Cruskal-Wallis test. RESULTS: Among 319 patients clinically diagnosed with TBM, 42 (13.2%) were Mycobacterial culture positive. Their median age was nine years, and the distribution was equal among female and male patients. Among 42 patients who were enrolled in the study, 1/42 (2.38%) passed away. Children with TBM were concentrated in the minority areas of western Sichuan, where 34/42 (81.0%) patients with TBM belonged to ethnic minorities, and only 2/42 (4.76%) received BCG vaccination in the past. Chest X-rays changes were observed in all patients. Fever and headache were the most common presenting symptom. Thirty-five (83.3%) patients suffered from neck stiffness, and 30/42 (71.4%) had high CSF pressure. DST results showed that the resistance rate was high; resistance to any anti-tuberculosis drug (ATD) was observed in 13 (31.0%) patient isolates, while multidrug-resistant TB (MDR-TB) and extensively drug-resistant TB (XDR-TB) were found in 2 (4.8%) and 1 (2.4%) patients, respectively. CONCLUSIONS: TBM among children in Southwest China was mainly concentrated in the minority areas of western Sichuan and more than 95% of patients did not receive BCG vaccination at birth. The most common symptoms were fever, headache, and neck stiffness and all patients had positive chest X-ray findings. In addition, high rates of drug resistance were found.

3.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 50(2): 234-240, 2019 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-31106546

RESUMO

OBJECTIVE: To screen the genes with significant changes in DNA methylation level in active tuberculosis patients, we used the methylation chips and expanded the sample size to verify candidate genes. METHODS: ① This study enrolled 9 cases of active tuberculosis patients, 3 cases of latent tuberculosis patients and 3 cases of healthy controls whose age and gender were all matched. Genome DNA was extracted from peripheral blood mononuclear cell in blood samples collected from these candidates, and bisulfite conversion treatment was then conducted. After hybridization with the Illumina HD 450K Infinium Mehtylation BeadChip, the results were compared between patients group and control group, and GO and KEGG pathway analyses were performed to evaluate the function of differentially expressed genes. ② We further enrolled 60 cases of active tuberculosis patients and 60 cases of health controls (age-and gender-matched), DNA was extracted from their peripheral blood and also followed bisulfite conversion treatment. Pyrosequencing method was used to detect the methylation levels of candidate genes (IFNGR2, PTPN6, CRK1, ATP6V0B, WIF1, DKK1 and SFRP1) screened by gene chip. RESULTS: Compared with healthy controls, the fragments in the patients that showed low methylation change accounted for the vast majority. Most of the methylation differential fragments (DMRs) were located in the main body region, followed by the upstream region of transcription initiation site, and the lowest DMRs distribution area was 3´UTR area. GO and Pathway analysis showed that the functions of the differentially methylated regions related genes are mainly enriched in the biological processes of the regulation of leukocyte differentiation, apoptosis, cytokine regulation and inflammatory response which are closely related to tuberculosis. There were 32 CpG sites involved in the verified 7 tuberculosis related genes, and 16 CpG locus showed significant difference (P<0.05), they were distributed in 6 genes: PTPN6, WIF1, CRK1, SFRP1, DKK1 and IFNGR2.Of these genes with significant difference, PTPN6 genes showed hypermethylation status and WIF1, CRK1, SFRP1, DKK1 and IFNGR2 genes exhibited demethylation status in the patients group compared to the health controls. SFRP1 and CRK-1 mRNA up-regulated in the patients group compared with health controls. CONCLUSION: In the course of MTB infection, the methylation status of genomic DNA is altered, and most of the differentially methylated regions (DMRs) are showed status of demethylation. The expressions ofSFRP1and CRK-1gene up-regulate in tuberculosis infection.


Assuntos
Metilação de DNA , Tuberculose Latente/genética , Análise de Sequência com Séries de Oligonucleotídeos , Tuberculose/genética , Ilhas de CpG , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Leucócitos Mononucleares , Proteínas de Membrana/genética , Proteínas Proto-Oncogênicas c-crk/genética
4.
Psychiatry Clin Neurosci ; 73(3): 109-115, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30375100

RESUMO

AIM: Although peripheral low-grade inflammation and brain-derived neurotrophic factor (BDNF) levels have been implicated in schizophrenia (SCZ), the interactions between them remain to be fully revealed. We aimed to compare BDNF and cytokines in patients with SCZ and healthy controls (HC). Additionally, we aimed to investigate the association between peripheral levels of cytokines and BDNF in patients with SCZ. METHODS: Plasma levels of BDNF, interferon gamma, interleukin (IL)-10, IL-12, IL-1, IL-6, IL-8, tumor necrosis factor alpha, macrophage migration inhibitory factor, IL-1 receptor antagonist (IL-1Ra), and CD40 Ligand were compared in 45 SCZ patients and 38 HC using Luminex technology. RESULTS: Compared to HC, patients had significantly higher IL-1Ra levels (P = 0.031). We found a strong positive association between BDNF and CD40 Ligand in the patient group (rho = 0.858, P < 0.001) as well as in the HC group (rho = 0.822, P < 0.001), respectively. Furthermore, there was a negative association between BDNF and tumor necrosis factor alpha in patients (rho = -0.429, P = 0.030) as well as in HC (rho = -0.649, P < 0.001). CONCLUSION: These results suggest that the cytokine IL-1Ra may play a role in SCZ pathophysiology. Additionally, the interaction between cytokines and BDNF levels further indicated the diverse actions of these cytokines.


Assuntos
Fator Neurotrófico Derivado do Encéfalo/sangue , Citocinas/sangue , Proteína Antagonista do Receptor de Interleucina 1/sangue , Fatores Inibidores da Migração de Macrófagos/sangue , Esquizofrenia/sangue , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Adulto Jovem
5.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 49(5): 731-736, 2018 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-30378335

RESUMO

OBJECTIVE: To screen and identify the gene of DNA methylation in patients with active tuberculosis. METHODS: ① This study enrolled 9 cases of active tuberculosis patients (including 3 newly diagnosed tuberculosis patients and 6 cases of retreatment of active tuberculosis patients), 3 cases of latent tuberculosis patients and 3 cases of healthy controls. Genome DNA was extracted from Peripheral Blood Mononuclear Cell and following bisulfite conversion treatment. After hybridization with the Illumina HD 450K Infinium Mehtylation BeadChip, the results were compared between patients group and control group, GO and Pathway analysis were performed to evaluate the function of differentially expressed genes; ② We further enrolled 60 cases of active tuberculosis patients and 60 cases of health controls (their age and gender were matched). By using pyrosequencing method to detect the methylation levels of candidate genes (TLR1, TLR2, TLR4) screened by gene chip. RESULTS: ① Compared with healthy controls, we found that most of them were showed demethylation status. GO and Pathway analysis showed that the functions of the differentially methylated regions related genes were mainly enriched in the biological processes of the regulation of leukocyte apoptosis, cytokine regulation and inflammatory response which were closely related to tuberculosis. ②There were 10 CpG sites involved in the verified tuberculosis related genes (TLR1, TLR2, TLR4), the CpG sites of TLR1 gene showed the hypermethylation status (P<0.001), the CpG sites of TLR4 gene showed demethylation status (P=0.012). CONCLUSION: The present study demonstrated that in the course of MTB infection, the methylation status of genomic DNA was altered, and most of the Differentially Methylated Regions (DMRs) were showed status of demethylation. TLR1 gene and TLR4 gene may play an important role in the occurrence and development of tuberculosis.


Assuntos
Metilação de DNA , Tuberculose/genética , Estudos de Casos e Controles , Ilhas de CpG , Humanos , Leucócitos Mononucleares , Análise de Sequência com Séries de Oligonucleotídeos , Receptor 1 Toll-Like/genética , Receptor 2 Toll-Like/genética , Receptor 4 Toll-Like/genética
6.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(2): 232-7, 2016 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-27263301

RESUMO

OBJECTIVE: To determine gene variations and genotype-phenotype correlations in Duchenne/Bayesian muscular mystrophy (DMD/BMD) patients, and the association between dystrophin gene polymorphisms and clinical phenotype. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was adopted to detect dystrophin gene variations in 170 patients. Sanger sequencing was performed in 3 cases with decreased peaks in MLPA results. RESULTS: The MLPA detected 72.94% mutations in dystrophin gene, including 62.35% (106/170) deletions, 8.82% (15/170) duplications, and 1.76% (3/170) point mutations. 64 different types of mutations were found. 75.47% of deletions occurred in the range from exon 44 to 55. Most 5' breakpoints of exonic variations were located in 2 hotspots (major hotspot: intron 43-55; minor hotspot: intron 1-20), which is different from findings of other studies. Genotype-phenotype analysis showed that the severity of DMD/BMD was associated with frame shift mutation (r = 0.640, P < 0.001) but not with deletions or duplications. CONCLUSION: Deletions and duplications of exon compose the main type of dystrophin gene mutations. DMD/BMD is associated with frame shift mutation.


Assuntos
Distrofina/genética , Estudos de Associação Genética , Distrofia Muscular de Duchenne/genética , Polimorfismo Genético , China , Análise Mutacional de DNA , Éxons , Humanos , Íntrons , Mutação , Fenótipo
7.
Asian Pac J Cancer Prev ; 17(3): 965-71, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27039821

RESUMO

AIMS: To investigate the distribution of epidermal growth factor receptor (EGFR) mutations, and explore any relationships with clinical characteristics in non-small-cell lung carcinoma (NSCLC) patients. MATERIALS AND METHODS: EGFR mutations were assessed by ADx-ARMS in 261 NSCLC patients from West China Hospital of Sichuan University. Relationships between EGFR mutation and clinical characteristics were analyzed by SPSS. RESULTS: The EGFR mutation rate was 48.7% (127/261), 19-del and L858R mutations occurred predominantly, accounting for 33.1% and 40.9%, respectively, in mutated cases. Moreover, 10.2% patients were found to carry double mutations. EGFR mutations occurred more frequently in women (57.5%) than in men (41.8%) (P=0.01), and were more frequent in non-smokers (61.2%) than in former or current smokers (31.2%) (P<0.00). In addition, they were more common in adenocarcinomas (52.8%) and adenosquamous carcinomas (42.8%) than in squamous cell carcinomas (14.8%) (p<0.00). However, only smoking history and pathological types, rather than gender, proved to be associated with EGFR mutations on multivariate logistic regression analysis. No significant differences in pathological stage and metastasis status were found between EGFR wild-type and mutated cases, although EGFR mutation type was related to pathological type (p=0.00) - 19-del, L858R and other mutation types respectively occurred in 34.2%, 42.5% and 23.3% of adenocarcinomas, but in 14.3%, 0% and 85.7% of non-adenocarcinomas. CONCLUSIONS: The EGFR mutation rate was 48.7% in NSCLCs in Southwest China, so that nearly 40% patients might benefit from targeted therapies. Smoking status and pathological types were independent predictors of EGFR mutation, while EGFR mutation type was related to only pathological type, rather than smoking status.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Receptores ErbB/genética , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Mutação/genética , Adenocarcinoma/genética , Adenocarcinoma/patologia , Carcinoma Adenoescamoso/genética , Carcinoma Adenoescamoso/patologia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , China , Feminino , Humanos , Masculino , Prevalência , Fumar/genética
8.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 908-915, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598123

RESUMO

Over the past 20 years,clinical molecular diagnostic technology has made rapid development,and became the most promising field in clinical laboratory medicine.In particular,with the development of genomics,clinical molecular diagnostic methods will reveal the nature of clinical diseases in a deeper level,thus guiding the clinical diagnosis and treatments.Many molecular diagnostic projects have been routinely applied in clinical works.This paper reviews the advances on application of clinical diagnostic techniques in infectious disease,tumor and genetic disorders,including nucleic acid amplification,biochip,next-generation sequencing,and automation molecular system,and so on.


Assuntos
Técnicas de Diagnóstico Molecular/tendências , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Técnicas de Amplificação de Ácido Nucleico
9.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 916-919, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598124

RESUMO

OBJECTIVES: To determine the targeted regulating role of has-miR-577 and has-miR-583 on the expression of fibroblast growth factor 21 (FGF-21) based on a constructed luciferase reporter FGF-21 gene vector. METHODS: The site of has-miR-577 and has-miR-583 target genes FGF-21 were predicted by the bioinformatics analyzing tools online.FGF-21 gene fragments,combined with has-miR-577 or has-miR-583 sequences and mutant sequences,were designed and synthesized.The wild type (psiCHECK2-FGF-21) and mutant (psiCHECK2-FGF-21-mut) luciferase reporter gene carriers were constructed.The relevant plasmids [hsa-miR-577mimics,hsa-miR-583 mimics or miR negative control (miR-NC)] and luciferase reporter gene carrier (wild type or mutant ) were co-transfected into 293T cells.The luciferase reporter system was used to detect the luciferase activity.The effects of has-miR-577 and has-miR-583 on the expression of FGF-21 were observed. RESULTS: The double enzyme electrophoresis and sequencing results showed that the gene fragment size and sequences of the wild type (psiCHECK2-FGF-21) and mutant (psiCHECK2-FGF-21-mut) carriers met expectations of the experiment.The luciferase assays revealed that has-miR-577 and has-miR-583 significantly diminished luciferase activity from the reporter vector containing 3'UTR of FGF-21 (P<0.05),whereas no suppression of luciferase activity was found in the mutant (psiCHECK2-FGF-21-mut). CONCLUSIONS: FGF-21 gene can be targeted by has-miR-577 and has-miR-583.


Assuntos
Fatores de Crescimento de Fibroblastos/genética , Marcação de Genes , MicroRNAs/genética , Regiões 3' não Traduzidas , Genes Reporter , Vetores Genéticos , Humanos , Luciferases , Transfecção
10.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 920-925, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598125

RESUMO

OBJECTIVES: To determine the correlation between gene polymorphisms in Wnt signal pathway and susceptibility of Chinese Tibetan people to tuberculosis. METHODS: A total of 488 active tuberculosis patients and 454 healthy subjects(control) were enrolled in this case-control study.Five single nucleotide polymorphisms (SNPs) in Wnt signal pathway (rs4135385 in CTNNB1 gene,rs11001553 in DKK1 gene,rs56900803 in WIF1 gene,rs7832767 in SFRP1 gene and rs11079571 in AXIN2 gene) were genotyped using MassARRAY method.The genotype and allele distributions of these loci were determined using SPSS19.0 and SNP stats software.Significant SNPs were measured in the co-dominant,dominant and recessive genetic models.The polymorphism distributions of Chinese Tibetans were compared with those of Chinese Han populations. RESULTS: The genotype distributions of all SNPs coincided with the Hardy-Weinberg equilibrium in the 2 groups.The frequencies of genotype and allele of rs7832767 in SFRP1 gene were significantly different (P=0.004,0.002,respectively) between the Tibetan patients with tuberculosis and the Tibetan healthy controls.Compared with C allele carriers,those carrying T allele of rs7832767 showed increased risk of tuberculosis [odds ratio (OR)=1.260,95% confidence interval (CI):1.086-1.471,P=0.002].The co-dominant,dominant and recessive models of this locus were also associated with higher risk of tuberculosis.No significant differences in genotype and allele distributions were observed for the other four SNP loci (P all>0.05).The distribution of rs4135385 in CTNNB1 gene in the Chinese Tibetan population differed from the Han population (P=0.035 for genotype,0.021 for allele).There were no obvious differences in genotype and allele distributions for the other four SNPs between the Tibetan and Han populations (P all >0.05). CONCLUSIONS: SFRP1 gene polymorphism in Wnt signal pathway is associated with tuberculosis susceptibility in Chinese Tibetan population.The distribution of CTNNB1 gene polymorphism differs between Chinese Tibetan and Han populations.


Assuntos
Polimorfismo de Nucleotídeo Único , Tuberculose/genética , Via de Sinalização Wnt/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Proteína Axina/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas Repressoras/genética , Tibet , beta Catenina/genética
11.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 926-930, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598126

RESUMO

OBJECTIVES: To determine the correlation between fms-like tyrosine kinase 3 gene (FLT3) expression and FLT3-internal tandem duplication (ITD) mutations in acute myeloid leukemia patients,and the association between expression of FLT3 gene and clinical and laboratory features of patients. METHODS: The expression of FLT3 mRNA in bone marrow (BM) leukemic cells of 128 acute myeloid leukemia (AML) patients was measured by real-time PCR.The patients were divided into two groups using the 35% FLT3 expression as a cut-off point.The associations between the expression level of FLT3 and clinical and laboratory features of patients were analyzed. RESULTS: The patients had a FLT3 gene expression level of 0.01-180.68 (mean 14.65) at the initial diagnosis,with AML-M1 the most expressed and AML-M6 the least expressed,but without statistical significance.The patients with a high level of FLT3 gene expression had higher peripheral blood white blood cell count (WBC) (P<0.01) and were more likely to become anemic and febrile (P<0.05).WBC [regression coefficient (B)=1.508,odds ratio (OR)=4.518,95% confidence interval(CI):1.465-13.390,P=0.009] and anemia (B=2.142,OR=8.513,95%CI:3.201-22.644,P<0.001)were predictors of higher expression of FLT3.The patients with high levels of FLT3 gene expression had lower complete remission rate (32/83),compared with those (36/44) with low levels of FLT3 gene expression (P<0.05).The Cox regression analysis showed that the patients with higher levels of FLT3 gene expression had a higher risk of death (B=1.338, relative risk=3.810, 95%CI:1.820-7.947,P<0.001).The Kaplan-Meier analysis showed that the patients with higher levels of FLT3 gene expression had lower survival time (56.63%) than those with lower levels of FLT3 expression (70.45%,P<0.05). CONCLUSIONS: FLT3 gene has adverse impacts on complete remission of AML.High expression of FLT3 gene is associated with poor prognosis of patients with AML.


Assuntos
Leucemia Mieloide Aguda/genética , Tirosina Quinase 3 Semelhante a fms/genética , Humanos , Estimativa de Kaplan-Meier , Mutação , Prognóstico , Indução de Remissão
12.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 931-935, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598127

RESUMO

OBJECTIVES: To determine the correlations between AML1-ETO fusion gene and clinical characteristics of patients with AML,and its association with the prognosis of AML-M2. METHODS: Medical records of 94 AML-M2 cases with positive AML1-ETO fusion gene and 51 AML-M2 cases with negative AML1-ETO gene were retrospective reviewed.Their clinical characteristics,treatment responses and prognostic outcomes were compared. RESULTS: No significant differences in the clinical symptoms,predominantly anemia,fever and hemorrhage,were found between the AML1-ETO fusion gene positive and negative AML-M2 (P>0.05).However,lower levels of red blood cell (RBC) and platelet (PLT),and higher levels of ratio of grain to red,percentage of bone marrow granulocyte (NC),CD34,human leukocyte antigen DR (HLA-DR),CD56 and CD19 were found in those with positive AML1-ETO fusion gene (P<0.05).The efficacy of treatments and survival curves showed no significant differences between the two groups (P>0.05).CD56 and original percentage of bone marrow granulocyte were predictors of poor long-term survival.Complete remission was the only predictor of better long-term survival. CONCLUSIONS: AML1-ETO fusion gene is neither associated with clinical symptoms,nor with survival and long term prognosis in Sichuan.As many factors affect the efficacy of treatments and prognosis of AML-M2,stratified analysis is needed to determine the role of AML1-ETO.


Assuntos
Subunidade alfa 2 de Fator de Ligação ao Core/genética , Leucemia Mieloide Aguda/genética , Proteínas de Fusão Oncogênica/genética , Proteína 1 Parceira de Translocação de RUNX1/genética , China , Humanos , Prognóstico , Estudos Retrospectivos
13.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 936-940, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598128

RESUMO

OBJECTIVES: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. METHODS: We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study.The copy numbers of survival motor neuron gene (SMN) and uronal-apoptosis inhibitory protein gene (NAIP) were measured by using multiplex ligation-dependent probe amplification (MLPA). RESULTS: Of 62 patients,the copy number of SMA1-4 were 30.65% (19/62),41.94%(26/62),16.13% (10/62),11.29% (7/62),respectively.The deletion of SMN1 exon 7 accounts for 98.38% (61/62).The deletion of SMN1 exon 8 accounts for 82.26% (51/62).Among SMA 1 patients,the homozygous deletion of NAIP exon 5 accounts for 68.42% (13/19) and heterzygous deletion accounts for 26.32% (5/19).Among SMA2-4patients,the homozygous deletion of NAIP exon 5 accounts for 13.95% (6/43) and heterzygous deletion accounts for 62.79% (27/43).Furthermore,68.42% (13/19) patients of SMA1have 1 copy and 2 copies of SMN2 gene,84.62% (22/26) patients of SMA 2 have more than 2 copies of SMN2 gene,90.00% (9/10) SMA3 and 85.71% (6/7) SMA4 have over 2 copies of SMN2 gene and even have 5 and 6 copy of SMN2 gene. CONCLUSIONS: The deletion of SMN1 gene is the main cause of SMA,and the change of SMN2 and NAIP copy number can affect the severity of SMA.


Assuntos
Atrofia Muscular Espinal/genética , Proteína Inibidora de Apoptose Neuronal/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , China , Grupos Étnicos , Éxons , Deleção de Genes , Dosagem de Genes , Humanos , Proteínas de Ligação a RNA
14.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 46(3): 403-8, 2015 May.
Artigo em Chinês | MEDLINE | ID: mdl-26121862

RESUMO

OBJECTIVE: To determine the impacts of Wnt signaling pathway products-polymorphisms of rs4135385, rs11079571 and rs7832767 located in ß-catenin gene (CTNNB1), Axin gene (AXIN2), and secreted frizzled-related protein gene (SFRP1) on the risk and treatment outcomes of acute leukemia. METHODS: Bone marrows (volume 1-1. 5 mL) were collected from 372 untreated patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL), and peripheral blood samples (2. 0 mL) were obtained from 401 healthy controls for the purpose of total DNA extraction. Polymorphisms of rs4135385, rs11079571 and rs7832767 located in CTNNB1, AXIN2 and SFRP1 were genotyped with high-resolution melting method (HRM). Chi-square analyses were performed to compare the genotype and allele distributions of the three single nucleotides (SNPs) between the leukemia patients and healthy controls. Single factor variance tests were performed to compare the differences in clinical features among different genotype groups. Complete remission (CR) rates after induction chemotherapy were also compared between different genotype groups using Chi-square tests. RESULTS: No significant differences were found beiween the leukemia patients and healthy controls in the frequencies of alleles and genotypes of CTNNB1 rs4135385, SFRP1 rs7832767 polymorphisms. Those with A allele in AXIN2 rs11079571 polymorphism was less likely to have acute myelomonocytic/monocytic leukemia than those with G allele (P = 0. 016, OR=0. 677, 95%CI:0. 439-0. 930). Acute bead monocyte/mononuclear cell leukemia (AML-M4/5)patients with AA genotype presented higher platelet count (P = 0. 040), and higher complete remission rate after chemotherapy (P = 0. 040), compared with the patients with AG and GG genotypes. CONCLUSION: AML-M4/5 patients have less frequency of A allele in AXIN2 rs11079571 polymorphism than healthy controls. Patients carrying A allele have higher platelet counts and higher sensitivity to chemotherapy.


Assuntos
Leucemia Mieloide Aguda/genética , Leucemia Mielomonocítica Aguda/genética , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Via de Sinalização Wnt/genética , Alelos , Proteína Axina/genética , Estudos de Casos e Controles , Frequência do Gene , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas de Membrana/genética , Indução de Remissão , beta Catenina/genética
15.
Asian Pac J Cancer Prev ; 15(22): 9961-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25520136

RESUMO

BACKGROUND: Some reports have suggested that chronic myeloid leukemia (CML) patients have a higher prevalence of M-bcr than acute lymphoblastic leukemia (ALL) patients, which show a higher prevalence of m-bcr. However, the relationship between BCR-ABL subtypes and progression of CML and ALL remains unclear. MATERIALS AND METHODS: 354 CML chronic phase (CML-CP) patients, 26 CML blastic phase (CML-BP) patients and 72 ALL patients before treatment with BCR-ABL positive were recruited for blood routine examination and bone marrow smear cytology. Some 80 CML-CP and 32 ALL patients after imatinib (IM) treatment were followed-up for BCR-ABL relative concentrations detected after treatment for 3, 6 and 9 months and 1 year. RESULTS: Before treatment, CML-CP patients showed lower BCR-ABL relative concentrations with a higher proportion of M-bcr (42.7%) compared to CML-BP and ALL patients while ALL patients had a higher BCR-ABL relative concentration with high expression of m-bcr (51.4%). Patients with M-bcr demonstrated higher WBC counts than those with m-bcr and the mixed group and higher PLT counts were noted in the CML-CP and ALL groups. After imatinib (IM) treatment, patients with m-bcr showed higher BCR-ABL relative concentrations in both CML-CP and ALL groups. CONCLUSIONS: This study identified the BCR-ABL gene as an important factor in CML and ALL cases. The M-bcr subtype was associated more with CML while the m-bcr subtype was associated more with ALL. Patients with m-bcr seem to have a poorer response to IM in either CML or ALL patients compared to M-bcr patients.


Assuntos
Crise Blástica/genética , Proteínas de Fusão bcr-abl/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Adulto , Benzamidas/uso terapêutico , Crise Blástica/tratamento farmacológico , Crise Blástica/patologia , Estudos de Casos e Controles , Pontos de Quebra do Cromossomo , Resistencia a Medicamentos Antineoplásicos/genética , Feminino , Seguimentos , Humanos , Mesilato de Imatinib , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Piperazinas/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Prognóstico , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Adulto Jovem
16.
J Clin Lab Anal ; 27(5): 341-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24038218

RESUMO

BACKGROUND: To establish a reliable correction method for automated hemoglobin (HGB) measurement by minimizing the interference from blood high triglyceride (TG). METHODS: Fifty whole blood samples and 50 plasma samples containing variable TG concentrations were used to determine the centrifugation speed and time. Complete blood cell counts (CBCs) were performed by an automated hematology analyzer for 102 blood samples, in which high-level TG were artificially added. The same blood samples were centrifuged at low -speed to separate the plasma from blood cells. Then the plasma was analyzed by the same analyzer. By using the two CBC results, a correction formula was established to calculate the corrected HGB, mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) values. Comparisons were also made of HGB, MCH, and MCHC values before and after correction of in-patient individuals who received intralipid and developed lipemia. RESULTS: The percentage differences between the corrected and true values of HGB, MCH and MCHC were -0.28%, 0.06%, and -0.31%, respectively. The correlation coefficients of corrected values versus true values of HGB, MCH, and MCHC were 0.989, 0.935, and 0.717, respectively. This correction method was also effective for native lipemic samples. CONCLUSION: High blood TG level can cause blood turbidity and erroneously high HGB results by hematology analyzers commonly used in clinical laboratories. Adding a simple step of low-speed centrifugation and measurement of HGB in the plasma fraction allows a quick correction of HGB measurement in lipemic blood samples.


Assuntos
Automação Laboratorial , Índices de Eritrócitos , Hipertrigliceridemia/sangue , Triglicerídeos/sangue , Contagem de Células Sanguíneas , Centrifugação , Hemoglobinas/análise , Humanos , Triglicerídeos/química
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(5): 582-6, 2012 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-23042399

RESUMO

OBJECTIVE: To assess the correlation between JAK2-V617F mutation and complete blood counts among patients with BCR/ABL-negative myeloproliferative diseases (MPD). METHODS: One hundred and ninety one patients were recruited. Retrospectively, their laboratory data were analyzed for the counts of red blood cells (RBC), white blood cells (WBC) and platelets (PLT). And the incidence of JAK2-V617F mutation was determined. RESULTS: There was significant difference in the incidence of JAK2-V617F mutation between patients with different cell counts (P< 0.01). The incidence of JAK2-V617F mutation has increased with the counts of RBC and PLT, which was the highest (92.86%) among those featuring simultaneous increase in all three series. CONCLUSION: The incidence of JAK2-V617F mutation seems to be strongly associated with variation of peripheral blood cell counts among patients with BCR/ABL-negative MPD. Variation of peripheral blood cells, particularly RBC, may be correlated with the rate of JAK2-V617F mutation.


Assuntos
Proteínas de Fusão bcr-abl/análise , Janus Quinase 2/genética , Mutação , Transtornos Mieloproliferativos/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/sangue
19.
J Clin Lab Anal ; 26(2): 49-54, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22467317

RESUMO

BACKGROUND: Serum cystatin C (Cys-C), an inhibitor of cysteine proteases, has been suggested as an ideal biomarker of glomerular filtration rate (GFR). OBJECTIVES: The objective of this study was to describe the reference intervals of serum Cys-C and identify factors associated with serum Cys-C or its variability, including age, gender, creatinine (Crea), blood urea nitrogen (BUN), and uric acid (UA). DESIGN AND METHODS: Serum Cys-C, Crea, BUN, and UA were measured in 4,517 healthy participants aged 8-89 years attending our hospital. Serum Cys-C was analyzed using a latex-enhanced immunoturbidimetric method. Crea were tested by picric acid jaffe method, BUN, and UA by kinetic UV assays. RESULTS: The predominant characteristic of Cys-C distribution was that Cys-C concentration in age ≥60 years group was the highest (P < 0.05). The differences of Cys-C concentration between males and females existed for subjects aged from 30 to 59 years (P < 0.05). In a multiple model adjusted only for gender and age, gender (ß = 0.007) has stronger effect on Cys-C levels, compared with age (ß = 0.003). The clinical variables, comprised of age, gender, Crea, BUN, and UA, involved in the fully adjusted equation accounted for 37.6% of variation of Cys-C. CONCLUSIONS: Ninety-five percent reference intervals for healthy population were partitioned into three categories only by age, 0.59-1.07 mg/L for subjects aged 19-59 years; 0.74-1.14 mg/L for the older aged ≥60 years; and 0.63-1.11 mg/L for children aged ≤18 years. Serum Cys-C is significantly related to gender, age, UA, Crea, and BUN. Besides, there are still other factors contributing to variation of Cys-C levels.


Assuntos
Grupo com Ancestrais do Continente Asiático , Cistatina C/sangue , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Nitrogênio da Ureia Sanguínea , Criança , China , Creatinina/sangue , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Caracteres Sexuais , Ácido Úrico/sangue , Adulto Jovem
20.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 43(1): 104-7, 117, 2012 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-22455143

RESUMO

OBJECTIVE: To develop an estimating formula for glomerular filtration Rate (GFR) based on serum cystatin C in patients with chronic kidney disease (CKD). METHODS: Clinical characteristics of 242 CKD patients were collected. The patients were randomly divided into modeling group and model validation group. The rGFR obtained from 99mTc-DTPA clearance rate was used as a reference value of GFR. s-cystatin C was detected by latex enhanced immunoturbidimetric method. Preliminary linear regression analysis followed by multiple linear regression were performed to investigate the association between s-cystatin C and rGFR. The validity of the estimation formula was tested in the model validation group in comparison with Hoek formula and Orebro formula. RESULTS: With standardised countdown conversion, s-cystatin showed linear correlation with rGFR, with a correlation coefficient of 0.773. The multiple correlation coefficient, determination coefficient, adjusted R square and std. error of the estimation model were 0.863, 0.745, 0.742, and 0.207, respectively. The residuals P-P probability plot analysis showed that the model residuals fitted into normal distribution with homogeneity of variance. Theeformula was: eGFR = 67/s-cystatin C +3. No significant difference was found between the distribution of eGFR and rGFR. Our formula had an accuracy of 30% and 50%, which were no less than those obtained from Hoek formula and Orebro formula. The new formula also had acceptable bias and high precision. The Bland-Altman analysis and ROC curve analysis showed good applicability of the new formula. CONCLUSION: The GFR prediction formula we established has a good prediction performance as comparised with other formulae, which could be used in measuring GFR in CKD patients.


Assuntos
Cistatina C/sangue , Taxa de Filtração Glomerular/fisiologia , Nefropatias/fisiopatologia , Insuficiência Renal Crônica/fisiopatologia , Adulto , Idoso , Doença Crônica , Feminino , Humanos , Nefropatias/metabolismo , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Insuficiência Renal Crônica/metabolismo , Reprodutibilidade dos Testes
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