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1.
Medicine (Baltimore) ; 99(11): e19484, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32176083

RESUMEN

Novel molecular signatures are needed to improve the early and accurate diagnosis of autism spectrum disorder (ASD), and indicate physicians to provide timely intervention. This study aimed to identify a robust blood non-coding RNA (ncRNA) signature in diagnosing ASD. One hundred eighty six blood samples in the microarray dataset were randomly divided into the training set (n = 112) and validation set (n = 72). Then, the microarray probe expression profile was re-annotated into the expression profile of 4143 ncRNAs though probe sequence mapping. In the training set, least absolute shrinkage and selection operator (LASSO) penalized generalized linear model was adopted to identify the 20-ncRNA signature, and a diagnostic score was calculated for each sample according to the ncRNA expression levels and the model coefficients. The score demonstrated an excellent diagnostic ability for ASD in the training set (area under receiver operating characteristic curve [AUC] = 0.96), validation set (AUC = 0.97) and the overall (AUC = 0.96). Moreover, the blood samples of 23 ASD patients and 23 age- and gender-matched controls were collected as the external validation set, in which the signature also showed a good diagnostic ability for ASD (AUC = 0.96). In subgroup analysis, the signature was also robust when considering the potential confounders of sex, age, and disease subtypes. In comparison with a 55-gene signature deriving from the same dataset, the ncRNA signature showed an obviously better diagnostic ability (AUC: 0.96 vs 0.68, P < .001). In conclusion, this study identified a robust blood ncRNA signature in diagnosing ASD, which might help improve the diagnostic accuracy for ASD in clinical practice.


Asunto(s)
Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/genética , Perfilación de la Expresión Génica , Marcadores Genéticos , ARN no Traducido/sangre , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Análisis por Micromatrices , Distribución Aleatoria
2.
Medicine (Baltimore) ; 99(3): e18790, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011476

RESUMEN

BACKGROUND: Chordoma is a rare malignant tumor with limited treatment. Recent studies have shown that the proliferation and invasion ability of chordoma after Tumor necrosis factor alpha (TNF-α) treatment is enhanced, which may activate the gene pathway involved in the development of chordoma. This study tends to identify differentially expressed genes (DEGs) before and after treatment of TNF-α in chordoma cell line, providing a new target for future molecular therapy of chordoma. METHODS: The gene expression profile of GSE101867 was downloaded from the Gene Expression Omnibus database, and the differentially expressed genes were obtained using GEO2R. Based on the CLUEGO plugin in Cytoscape, DEGs functionality and enrichment analysis. A protein-protein interaction (PPI) network was constructed using Cytoscape based on data collected from the STRING online dataset. The Hub genes are selected from the CytoHubba, the first 20 genes that coexist with the KEGG tumor-related pathway. RESULTS: A total of 560 genes, including 304 up-regulated genes and 256 down-regulated genes, were selected as DEGs. Obviously, GO analysis shows that up-regulated and down-regulated DEGs are mainly enriched in biological processes such as synaptic tissue, cell adhesion, extracellular matrix organization and skeletal system development. DEGs are mainly enriched in tumor-associated pathways such as Pi3k-akt Signal path, Rap1 signal path. Three key genes were identified: PDGFRB, KDR, FGF2. All of these genes are involved in the tumor-associated pathways described previously. CONCLUSION: This study is helpful in understanding the molecular characteristics of chordoma development. Hub genes PDGFRB, KDR, FGF2 and pi3k-akt signaling pathway, Rap1 signaling pathway will become a new target for the future treatment of chordoma.


Asunto(s)
Antineoplásicos/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Neoplasias Óseas/metabolismo , Cordoma/tratamiento farmacológico , Cordoma/metabolismo , Factor de Necrosis Tumoral alfa/uso terapéutico , Neoplasias Óseas/genética , Línea Celular Tumoral , Cordoma/genética , Biología Computacional , Perfilación de la Expresión Génica , Humanos , Análisis por Micromatrices
3.
Medicine (Baltimore) ; 99(5): e19014, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32000445

RESUMEN

To investigate the association between pathogenic copy number variants (p-CNVs) and abnormal karyotypes detected by chromosomal microarray analysis (CMA) and echogenic intracardiac focus (EIF).This was a retrospective study of fetuses with EIF with CMA data at the Prenatal Diagnosis Center of the West China Second University Hospital of Sichuan University between September 2014 and May 2017. Fetuses were assigned to the isolated EIF and non-isolated EIF groups according to the presence of other ultrasound abnormalities.Among 244 pregnant women, there were 143 cases of isolated EIF and 101 of non-isolated EIF. CMA revealed chromosome abnormality (n = 9 (3.7%): trisomy 21, n = 4; sexual trisomy, n = 2; and p-CNV, n = 3), variants of unknown significance (VOUS, n = 19), and benign CNV (b-CNV, n = 216). Among the fetuses with isolated EIF, 5 had chromosomal abnormalities (3.5%). Among the fetuses with non-isolated EIF, four had chromosomal abnormalities (4.0%). All fetuses with trisomy 21 were in the non-isolated group. The frequency of labor induction was 66.7% (6/9) among the fetuses with chromosome abnormality and 21.1% (4/19) among those with VOUS. Among those with chromosomal abnormalities, one (11.1%) had congenital heart disease.In pregnant women without high-risk factors for chromosomal abnormalities, ultrasound abnormalities, including EIF, could be an indication for CMA. Ultrasound abnormalities (including EIF) and chromosome abnormality could indicate a high risk of CHD. The presence of EIF and at least another ultrasound abnormality could indicate a high risk of trisomy 21.


Asunto(s)
Aberraciones Cromosómicas , Cardiopatías Congénitas/genética , Análisis por Micromatrices , Diagnóstico Prenatal , Adolescente , Adulto , Femenino , Asesoramiento Genético , Humanos , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Ultrasonografía Prenatal
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 186-189, 2020 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-32034752

RESUMEN

OBJECTIVE: To detect chromosomal aberrations in two fetuses with multiple malformation. METHODS: The two fetuses were subjected to chromosomal microarray analysis (CMA) by using Affymetrix CytoScan 750K arrays. The results were analyzed by bioinformatic software. RESULTS: CMA analysis suggested that both fetuses harbored pathogenic copy number variations (CNVs) in the 2p15-16.1 region, which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes. CONCLUSION: Deletion of the chr2 (61 659 957-61 733 075, hg19) encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.


Asunto(s)
Deleción Cromosómica , Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal , Femenino , Humanos , Análisis por Micromatrices , Embarazo , Síndrome , Proteasas Ubiquitina-Específicas
5.
DNA Cell Biol ; 39(3): 441-450, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32101049

RESUMEN

Diabetes mellitus (DM) is one of the growing public health threats globally and as one of the common serious microvascular complications of DM, diabetic retinopathy (DR) is the leading cause of irreversible visual impairments and blindness. There is growing concern about the role of microRNAs (miRNAs) in the pathogenesis of DR. This meta-analysis was designed to collect those published miRNA expression profiling studies that compared the miRNA expression profiles in the biological samples of DR patients with those in the control group. Eight publications were finally included in the meta-analysis, and a total of 93 differentially expressed miRNAs were reported. Although six miRNAs were reported in at least two studies and with the consistent direction, after stratification by the type of biological samples, miR-320a was consistently reported to be upregulated in two serum sample-based studies and miR-423-5p was consistently reported to be upregulated in two vitreous humor sample-based studies. miR-27b was consistently reported to be downregulated in two serum sample-based studies. In conclusion, the results of this meta-analysis of human DR miRNAs' expression profiling studies might provide some clues of the potential biomarkers of DR. Further investigation of the mechanisms of miRNAs and more external validation studies are warranted with the aim of developing new diagnostic markers for preventing or reversing DR.


Asunto(s)
Retinopatía Diabética/genética , MicroARNs/genética , Adulto , Anciano , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , MicroARNs/metabolismo , Análisis por Micromatrices , Persona de Mediana Edad , Regulación hacia Arriba , Cuerpo Vítreo/metabolismo
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 67-70, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922601

RESUMEN

OBJECTIVE: To assess the application value of chromosomal microarray analysis (CMA) for prenatal diagnosis of fetus with ultrasound abnormalities. METHODS: For 293 fetuses with ultrasound abnormalities (including 168 with structural abnormalities and 125 with non-structured abnormalities) but no common chromosomal abnormalities, CMA assay was performed. RESULTS: Sixteen pathogenic copy number variants (pCNVs) were detected by CMA with a detection rate of 5.46%. The detection rates were 5.95% (10/168) for those with structural abnormalities and 4.80% (6/125) for those with non-structural abnormalities. CONCLUSION: Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormality and provide an effective means for prenatal diagnosis.


Asunto(s)
Trastornos de los Cromosomas , Análisis por Micromatrices , Diagnóstico Prenatal , Aberraciones Cromosómicas , Variaciones en el Número de Copia de ADN , Femenino , Feto/anomalías , Humanos , Análisis por Micromatrices/normas , Embarazo , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal
7.
BMC Oral Health ; 20(1): 24, 2020 01 29.
Artículo en Inglés | MEDLINE | ID: mdl-31996191

RESUMEN

BACKGROUND: Our study aimed to reveal the regulatory mechanisms of miRNAs and matrix metalloproteinases (MMPs) in oral squamous cell carcinoma (OSCC). METHODS: The mRNA and miRNA expression profiles of six metastatic tumour samples, six nonmetastatic tumour samples, and six normal tissue samples were used for microarray analysis. Moreover, the important genes and miRNAs were validated by published profiles in Oncomine and by qRT-PCR. RESULTS: MMP7, MMP13, and MMP10 were upregulated, and MMP12 and MMP9 were downregulated in metastatic tumours compared with nonmetastatic tumours. MMP7 was regulated by miR-4697-5p and miR-7109-5p. MMP7 and MMP13 were upregulated in OSCC samples compared with normal samples in Oncomine. Moreover, qRT-PCR revealed that the expression of miR-7109-5p and miR-34b was decreased in metastatic tumours compared with nonmetastatic tumours. CONCLUSIONS: Our study suggested that miR-7109-5p and miR-34b might play important roles in the metastasis of OSCC by regulating MMP7 and MMP13 expression, respectively.


Asunto(s)
Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/metabolismo , Metaloproteinasas de la Matriz/metabolismo , MicroARNs/genética , Análisis por Micromatrices/métodos , Neoplasias de la Boca/genética , Metástasis de la Neoplasia/genética , Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/patología , Regulación hacia Abajo , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , MicroARNs/metabolismo , Neoplasias de la Boca/metabolismo , Neoplasias de la Boca/patología , ARN Neoplásico/sangre , ARN Neoplásico/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Regulación hacia Arriba/genética
8.
Gene ; 728: 144285, 2020 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-31838253

RESUMEN

Stroke has serious implications on patients and a huge impact on society. The current treatment regimens with drug for acute cerebral infarction are unsatisfactory. Here, we explore whether the two long non-coding RNA (lncRNA) candidates from preliminary research regulate apoptosis after cerebral infarction, and evaluate the underlying mechanism of action. Bioinformatics analysis of the lncRNA microarray in the preliminary research of our group was performed. Changes in the expression of candidate lncRNAs in SH-SY5Y cells were detected by quantitative polymerase chain reaction (qPCR) after treatment with seven different oxygen and glucose deprivation (OGD) methods. The changes were detected after transfection of cells with six small-interfering RNAs (siRNAs). Cell models were established by OGD after transfection with siRNAs. Cell viability was evaluated with the cell counting kit 8 (CCK8) assay, while TUNEL staining and flow cytometry analysis were performed to determine apoptosis. Changes in the expression and phosphorylation of three proteins were detected by western blotting after the knockdown of NR_120420. Changes in the expression and phosphorylation of P65 protein were detected by western blotting after this cell model was treated with PDTC. Cells were transfected with siNR_120420 and treated with and without PDTC, followed by analysis of cell viability and apoptosis. Bioinformatics analysis revealed that the differentially expressed lncRNAs after acute cerebral infarction were mainly involved in nuclear factor kappa B (NF-κB) and apoptosis. Expression of the two lncRNA candidates in SH-SY5Y cells was the maximum after incubation under the OGD condition for 8 h. The knockdown efficiency was more than 60% for four of the six siRNAs, and knockdown of NR_120420 increased the cell viability and decreased the percentage of TUNEL-positive cells and apoptotic cells. Knockdown of lnc-GCH1-2:3 resulted in none of these effects. Phosphorylation of NF-κB (P65) decreased significantly after the knockdown of NR_120420. Expression and phosphorylation of P65 was significantly reduced after it was treated with PDTC. The inhibitor of NF-κB (PDTC) could abolish the effect of NR_120420 on the regulation of apoptosis in this cell model. Both NR_120420 and lnc-GCH1-2:3 had significant changes in this cell model. Knockdown of NR_120420 inhibited the apoptosis of cells, while NR_120420 knockdown inhibited apoptosis after cerebral infarction by downregulating the phosphorylation of a subunit of NF-κB (P65). This study may provide new idea for improving drug treatment of acute cerebral infarction.


Asunto(s)
Apoptosis , Infarto Cerebral/patología , Glucosa/deficiencia , FN-kappa B/metabolismo , Neuroblastoma/patología , Oxígeno/metabolismo , ARN Largo no Codificante/genética , Enfermedad Aguda , Anciano , Estudios de Casos y Controles , Hipoxia de la Célula , Proliferación Celular , Infarto Cerebral/genética , Infarto Cerebral/metabolismo , Femenino , Humanos , Masculino , Análisis por Micromatrices , FN-kappa B/genética , Neuroblastoma/genética , Neuroblastoma/metabolismo , Fosforilación , Transducción de Señal , Células Tumorales Cultivadas
9.
J Invest Surg ; 33(2): 172-180, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29672183

RESUMEN

Background: Peripheral nerve injury (PNI) has devastating consequences. Dorsal root ganglion as a pivotal locus participates in the process of neuropathic pain and nerve regeneration. In recent years, gene sequencing technology has seen rapid rise in the biomedicine field. So, we attempt to gain insight into in the mechanism of neuropathic pain and nerve regeneration in the transcriptional level and to explore novel genes through bioinformatics analysis. Methods: The gene expression profiles of GSE96051 were downloaded from GEO database. The gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway (KEGG) enrichment analyses were performed, and protein-protein interaction (PPI) network of the differentially expressed genes (DEGs) was constructed by Cytoscape software. Results: Our results showed that both IL-6 and Jun genes and the signaling pathway of MAPK, apoptosis, P53 present their vital modulatory role in nerve regeneration and neuropathic pain. Noteworthy, 13 hub genes associated with neuropathic pain and nerve regeneration, including Ccl12, Ppp1r15a, Cdkn1a, Atf3, Nts, Dusp1, Ccl7, Csf, Gadd45a, Serpine1, Timp1 were rarely reported in PubMed database, these genes may provide us the new orientation in experimental research and clinical study. Conclusions: Our results may provide more deep insight into the mechanism and a promising therapeutic target. The next step is to put our emphasis on an experiment level and to verify the novel genes from 13 hub genes.


Asunto(s)
Traumatismos de los Nervios Periféricos , Ganglios Espinales , Ontología de Genes , Humanos , Análisis por Micromatrices , Nervio Ciático
10.
Talanta ; 207: 120277, 2020 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-31594622

RESUMEN

A low-cost and disposable microcell was constructed with a screen-printed electrode for the non-enzymatic electrochemical determination of creatinine. The working electrode was modified with carbon black and maintained in contact with paper-adsorbed iron (III) ions. A small sample volume of 3 µL was required for the device operation. Then, iron (III) ions were complexed in the presence of creatinine in a chemical step, followed by an electrochemical reduction of non-complexed metallic ions in excess. Cyclic voltammetry and differential-pulse voltammetry experiments were employed for the electrochemical characterizations and analytical performance evaluation of the microcell. The working electrode modification with carbon black provided a significant increase of analytical signal. The sensor presented a linear response for creatinine concentrations ranging from 0.10 to 6.5 mmol L-1, with a limit of detection of 0.043 mmol L-1. Experiments for creatinine determination in real samples were successful performed through of standard recovery in urine.


Asunto(s)
Creatinina/análisis , Electroquímica/instrumentación , Análisis por Micromatrices/instrumentación , Impresión , Creatinina/química , Creatinina/orina , Electrodos , Tecnología Química Verde , Humanos , Hierro/química , Límite de Detección , Hollín/química
11.
Cancer Immunol Immunother ; 68(12): 2067-2080, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31720813

RESUMEN

PURPOSE: Tumor-associated macrophages (TAMs) exist as heterogeneous subsets and have dichotomous roles in cancer-immune evasion. This study aims to assess the clinical effects of Galectin-9+ tumor-associated macrophages (Gal-9+TAMs) in muscle-invasive bladder cancer (MIBC). EXPERIMENTAL DESIGN: We identified Gal-9+TAMs by immunohistochemistry (IHC) analysis of a tumor microarray (TMA) (n = 141) from the Zhongshan Hospital and by flow cytometric analysis of tumor specimens (n = 20) from the Shanghai Cancer Center. The survival benefit of platinum-based chemotherapy in this subpopulation was evaluated. The effect of the tumor-immune microenvironment with different percentages of Gal-9+TAMs was explored. RESULTS: The frequency of Gal-9+TAMs increased with tumor stage and grade. Gal-9+TAMs predicted poor overall survival (OS) and recurrence-free survival (RFS) and were better than Gal-9-TAMs and TAMs to discriminate prognostic groups. In univariate and multivariate Cox regression analyses, patients with high percentages of Gal-9+TAMs showed the prominent survival benefit after receiving adjuvant chemotherapy (ACT). High Gal-9+TAM infiltration correlated with increasing numbers of regulatory T cells (Tregs) and mast cells and decreasing numbers of CD8+T and dendritic cells (DCs). Dense infiltration of Gal-9+TAMs was related to reduced cytotoxic molecules, enhanced immune checkpoints or immunosuppressive cytokines expressed by immune cells, as well as active proliferation of tumor cells. Additionally, the subpopulation accumulated was strongly associated with PD-1+TIM-3+CD8+T cells. CONCLUSIONS: Gal-9+TAMs predicted OS and RFS and response to ACT in MIBC patients. High Gal-9+TAMs were associated with a pro-tumor immune contexture concomitant with T cell exhaustion.


Asunto(s)
Galectinas/metabolismo , Macrófagos/inmunología , Músculos/patología , Linfocitos T Reguladores/inmunología , Neoplasias de la Vejiga Urinaria/terapia , Adulto , Biomarcadores Farmacológicos , Movimiento Celular , Quimioterapia Adyuvante , Femenino , Humanos , Masculino , Análisis por Micromatrices , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Pronóstico , Análisis de Supervivencia , Escape del Tumor , Microambiente Tumoral , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/mortalidad
12.
BMC Bioinformatics ; 20(1): 608, 2019 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-31775613

RESUMEN

BACKGROUND: Microarray datasets consist of complex and high-dimensional samples and genes, and generally the number of samples is much smaller than the number of genes. Due to this data imbalance, gene selection is a demanding task for microarray expression data analysis. RESULTS: The gene set selected by DGS has shown its superior performances in cancer classification. DGS has a high capability of reducing the number of genes in the original microarray datasets. The experimental comparisons with other representative and state-of-the-art gene selection methods also showed that DGS achieved the best performance in terms of the number of selected genes, classification accuracy, and computational cost. CONCLUSIONS: We provide an efficient gene selection algorithm can select relevant genes which are significantly sensitive to the samples' classes. With the few discriminative genes and less cost time by the proposed algorithm achieved much high prediction accuracy on several public microarray data, which in turn verifies the efficiency and effectiveness of the proposed gene selection method.


Asunto(s)
Técnicas Genéticas , Neoplasias/genética , Algoritmos , Perfilación de la Expresión Génica/métodos , Regulación Neoplásica de la Expresión Génica , Humanos , Análisis por Micromatrices , Proyectos de Investigación
13.
Genes (Basel) ; 10(10)2019 10 12.
Artículo en Inglés | MEDLINE | ID: mdl-31614849

RESUMEN

Microglia, the main immune cells of the central nervous system, are increasingly implicated in Alzheimer's disease (AD). Manifold transcriptomic studies in the brain have not only highlighted microglia's role in AD pathogenesis, but also mapped crucial pathological processes and identified new therapeutic targets. An important component of many of these transcriptomic studies is the investigation of gene expression networks in AD brain, which has provided important new insights into how coordinated gene regulatory programs in microglia (and other cell types) underlie AD pathogenesis. Given the rapid technological advancements in transcriptional profiling, spanning from microarrays to single-cell RNA sequencing (scRNA-seq), tools used for mapping gene expression networks have evolved to keep pace with the unique features of each transcriptomic platform. In this article, we review the trajectory of transcriptomic network analyses in AD from brain to microglia, highlighting the corresponding methodological developments. Lastly, we discuss examples of how transcriptional network analysis provides new insights into AD mechanisms and pathogenesis.


Asunto(s)
Enfermedad de Alzheimer/genética , Encéfalo/metabolismo , Microglía/metabolismo , Enfermedad de Alzheimer/inmunología , Enfermedad de Alzheimer/metabolismo , Redes Reguladoras de Genes , Humanos , Análisis por Micromatrices/métodos , Microglía/inmunología , Análisis de la Célula Individual/métodos , Transcriptoma
14.
Int J Mol Sci ; 20(20)2019 Oct 14.
Artículo en Inglés | MEDLINE | ID: mdl-31615030

RESUMEN

The extracellular matrix (ECM) provides structural support for tissue architecture and is a major effector of cell behavior during skin repair and inflammation. Macrophages are involved in all stages of skin repair but only limited knowledge exists about macrophage-specific expression and regulation of ECM components. In this study, we used transcriptome profiling and bioinformatic analysis to define the unique expression of ECM-associated genes in cultured macrophages. Characterization of the matrisome revealed that most genes were constitutively expressed and that several genes were uniquely regulated upon interferon gamma (IFNγ) and dexamethasone stimulation. Among those core matrisome and matrisome-associated components transforming growth factor beta (TGFß)-induced, matrix metalloproteinase 9 (MMP9), elastin microfibril interfacer (EMILIN)-1, netrin-1 and gliomedin were also present within the wound bed at time points that are characterized by profound macrophage infiltration. Hence, macrophages are a source of ECM components in vitro as well as during skin wound healing, and identification of these matrisome components is a first step to understand the role and therapeutic value of ECM components in macrophages and during wound healing.


Asunto(s)
Matriz Extracelular/genética , Macrófagos/metabolismo , Piel/metabolismo , Cicatrización de Heridas/genética , Animales , Biología Computacional , Elastina/genética , Perfilación de la Expresión Génica , Humanos , Macrófagos/patología , Análisis por Micromatrices , Piel/patología
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 970-974, 2019 Oct 10.
Artículo en Chino | MEDLINE | ID: mdl-31598938

RESUMEN

OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION: CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.


Asunto(s)
Aberraciones Cromosómicas , Análisis por Micromatrices , Medida de Translucencia Nucal , Resultado del Embarazo , Diagnóstico Prenatal , Aneuploidia , Cromosomas , Variaciones en el Número de Copia de ADN , Edema , Femenino , Feto , Humanos , Linfangioma Quístico , Embarazo , Ultrasonografía Prenatal
16.
Medicine (Baltimore) ; 98(37): e17156, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31517861

RESUMEN

This study aims to screen differentially expressed host miRNAs that could be used as diagnostic markers for liver alveolar echinococcosis (LAE).Differentially expressed miRNAs were first screened by miRNA microarray in liver tissues from2 LAE patients and normal liver tissues from 3 LAE patients, followed by qRT-PCR validation in 15 LAE tissues and 15 normal tissues. Target genes of differentially expressed miRNAs were predicted using Targetscan, PITA and microRNAorg database, and the overlapped predicted target genes were analyzed by GO and KEGG.The hsa-miR-1237-3p, hsa-miR-33b-3p, and hsa-miR-483-3p were up-regulated whereas the hsa-miR-4306 was down-regulated in LAE tissues compared with normal controls (P < .05). The expression change of miR-483-3p was further confirmed in both liver tissues and plasma. Several predicted targets of miR-1237-3p, miR-4306, and miR-483-3p were related to DNA-dependent transcriptional regulation, developmental regulation of multicellular organisms, and biological functions such as cellular immune responses (T cell proliferation). The overlapped predicted target genes of the 4 differentially expressed miRNAs were enriched in mRNA surveillance, cancer signaling pathway, intestinal immune network, and other signal pathways.Our results indicate that miR-483-3p is a potential marker for the diagnosis of LAE, and targets of this miRNA could be the focus of further studies.


Asunto(s)
Equinococosis Hepática/metabolismo , Hígado/metabolismo , MicroARNs/metabolismo , Adulto , Biomarcadores/metabolismo , Femenino , Expresión Génica , Humanos , Masculino , Análisis por Micromatrices , Persona de Mediana Edad
17.
Pak J Pharm Sci ; 32(3 Special): 1395-1408, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31551221

RESUMEN

Numerous cancer studies have combined different datasets for the prognosis of patients. This study incorporated four networks for significant directed random walk (sDRW) to predict cancerous genes and risk pathways. The study investigated the feasibility of cancer prediction via different networks. In this study, multiple micro array data were analysed and used in the experiment. Six gene expression datasets were applied in four networks to study the effectiveness of the networks in sDRW in terms of cancer prediction. The experimental results showed that one of the proposed networks is outstanding compared to other networks. The network is then proposed to be implemented in sDRW as a walker network. This study provides a foundation for further studies and research on other networks. We hope these finding will improve the prognostic methods of cancer patients.


Asunto(s)
Biología Computacional/métodos , Regulación Neoplásica de la Expresión Génica , Neoplasias/genética , Algoritmos , Biomarcadores de Tumor/genética , Bases de Datos Genéticas , Humanos , Análisis por Micromatrices , Mapas de Interacción de Proteínas/genética , Distribución Aleatoria , Reproducibilidad de los Resultados , Transcriptoma
18.
mSphere ; 4(5)2019 09 11.
Artículo en Inglés | MEDLINE | ID: mdl-31511367

RESUMEN

Serological assays are used to diagnose and characterize host immune responses against microbial pathogens. Microarray technologies facilitate high-throughput immunoassays of antibody detection against multiple pathogens simultaneously. To improve survey of influenza A virus (IAV), influenza B virus (IBV), respiratory syncytial virus (RSV), and adenovirus (AdV) antibody levels, we developed a microarray consisting of IAV H1N1, IAV H1N1pdm09 (vaccine), IAV H3N2, IBV Victoria, IBV Yamagata, RSV, AdV type 5 hexon protein, and control antigens printed on the bottom of a microtiter plate well. Bound IgG antibodies were detected with anti-human IgG-coated photon-upconverting nanoparticles and measured with a photoluminescence imager. The performance of the microarray immunoassay (MAIA) was evaluated with serum samples (n = 576) collected from children (n = 288) at 1 and 2 years of age and tested by standard enzyme immunoassays (EIAs) for antibodies to IAV vaccine and RSV. EIAs and MAIA showed substantial to almost perfect agreement (Cohen's κ, 0.62 to 0.83). Applying MAIA, we found seroprevalences of 55% for IAV H1N1, 54% for IAV vaccine, 30% for IAV H3N2, 24% for IBV Victoria, 25% for IBV Yamagata, 38% for RSV, and 26% for AdV in 1-year-old children (n = 768). By the age of 2 years, IgG seropositivity rates (n = 714) increased to 74% for IAV H1N1, 71% for IAV vaccine, 49% for IAV H3N2, 47% for IBV Yamagata, 49% for IBV Victoria, 68% for RSV, and 58% for AdV. By analyzing increases in antibody levels not biased by vaccinations, we found a reinfection rate of 40% for RSV and 31% for AdV in children between 1 and 2 years of age.IMPORTANCE The multiplex immunoassay was successfully used to simultaneously detect antibodies against seven different viruses. The developed serological microarray is a new promising tool for diagnostic, epidemiological, and seroprevalence analyses of virus infections.


Asunto(s)
Anticuerpos Antivirales/sangre , Ensayos Analíticos de Alto Rendimiento/métodos , Infecciones del Sistema Respiratorio/virología , Pruebas Serológicas/métodos , Virus/inmunología , Adenoviridae/inmunología , Preescolar , Estudios de Cohortes , Humanos , Inmunoensayo/métodos , Lactante , Virus de la Influenza A/inmunología , Virus de la Influenza B/inmunología , Análisis por Micromatrices , Estudios Observacionales como Asunto , Virus Sincitiales Respiratorios/inmunología , Infecciones del Sistema Respiratorio/inmunología
19.
J Genet ; 982019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31544782

RESUMEN

Although it is known that the parental carriers of chromosomal translocation are considered to be at high risk for spontaneous abortion and embryonic death, normal gestation and delivery remain possible. This study aims to investigate the genetic factors of a Chinese infant with multiple malformations and severe postnatal development retardation. In this study, the routine cytogenetic analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis were performed. Conventional karyotype analyses revealed normal karyotypes of all family members. CMA of the DNA of the proband revealed a 8.3 Mb duplication of 5q35.1-qter and a 6.9 Mb deletion of 11q24.3-qter. FISH analyses verified a paternal tiny translocation between the long arm of chromosomes 5 and 11. Our investigation serves to provide important information on genetic counselling for the patient and future pregnancies in this family. Moreover, the combined use of CMA and FISH is effective for clarifying pathogenically submicroscopic copy number variants.


Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 5/genética , Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Translocación Genética , Anomalías Múltiples/genética , Deleción Cromosómica , Duplicación Cromosómica/genética , Análisis Citogenético , Humanos , Hibridación Fluorescente in Situ , Lactante , Cariotipificación , Masculino , Análisis por Micromatrices , Trisomía/genética , Trisomía/patología
20.
Eur J Endocrinol ; 181(5): 525-537, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31536965

RESUMEN

Objective: To evaluate the effect of insulin resistance in obesity on the expression in whole blood of mRNA and miRNA affecting bone homeostasis as well as to estimate the influence of oral glucose load (OGTT) on serum osteocalcin concentration in obese individuals with and without insulin resistance. Design: Cross-sectional study. Methods: Carboxylated (cOC), undercarboxylated (ucOC) and total osteocalcin were measured by ELISA in the serum of obese subjects with insulin resistance (n = 41) and obese subjects without insulin resistance (n = 41) (control group) during OGTT. Analysis of gene expression (microarray) and miRNAs (real-time PCR) was performed in venous blood (representating samples) collected before OGTT from obese with insulin resistance and controls. Results: Obese subjects with insulin resistance (higher HOMA-IR and lower oral glucose insulin sensitivity index) presented significantly increased expression of WNT signalling inhibitors (DKK1, DKK2, SOST, SFRP1) and downregulation of the key factor in WNT signalling - ß catenin participating in osteoblasts differentiation. Expression of miRNA involved in osteoblastogenesis was also inhibited (miR-29b, miR-181a, miR-210, miR-324-3p). During OGTT, contrary to the control group, subjects with insulin resistance presented suppression of cOC and total OC decrease after 1 and 2 h of oral glucose load. Conclusions: Obese subjects with insulin resistance may have defects in osteoblastogenesis that was demonstrated via key signalling molecules mRNA downregulation, and increased expression of WNT antagonists as well as inhibition of expression of miRNA participating in the regulation of osteoblast differentiation. Disturbed osteoblastogenesis in insulin-resistant subjects results in the suppression of blood carboxylated and total osteocalcin decrease during OGTT.


Asunto(s)
Remodelación Ósea/fisiología , Resistencia a la Insulina/fisiología , MicroARNs/sangre , ARN Mensajero/sangre , Adulto , Estudios Transversales , Ensayo de Inmunoadsorción Enzimática , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Masculino , Análisis por Micromatrices , Persona de Mediana Edad , Obesidad/etiología , Obesidad/metabolismo , Osteoblastos/metabolismo , Osteoclastos/metabolismo , Vía de Señalización Wnt/fisiología
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