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1.
Braz J Med Biol Res ; 51(4): e6651, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29490003

RESUMEN

The aim of this study was to evaluate the clinical and radiographic outcomes of upper thoracic (UT) versus lower thoracic (LT) upper instrumented vertebrae (UIV) for adult scoliosis by meta-analysis. We conducted a literature search in three databases to retrieve related studies up to March 15, 2017. The preliminary screened studies were assessed by two reviewers according to the selection criteria. All analyses were carried out using the statistical software package R version 2.31. Odds ratios (OR) with 95% confidence intervals (CI) were used to describe the results. The I2 statistic and Q statistic test were used for heterogeneity assessment. Egger's test was performed to detect publication bias. To assess the effect of each study on the overall pooled OR or standardized mean difference (SMD), sensitive analysis was conducted. Ten trials published between 2007 and 2015 were eligible and included in our study. Meta-analysis revealed that the UT group was associated with more blood loss (SMD=0.4779, 95%CI=0.3349-0.6209, Z=6.55, P<0.0001) and longer operating time (SMD=0.5780, 95%CI=0.1971-0.958, Z=2.97, P=0.0029) than the LT group. However, there was no significant difference in Oswestry Disability Index, Scoliosis Research Society (SRS) function subscores, radiographic outcomes including sagittal vertical axis, lumbar lordosis, and thoracic kyphosis, length of hospital stay, and revision rates between the two groups. No evidence of publication bias was found between the two groups. Fusion from the lower thoracic spine (below T10) has as advantages a shorter operation time and less blood loss than upper thoracic spine (above T10) in posterior long-segment fixation for degenerative lumbar scoliosis.


Asunto(s)
Vértebras Lumbares/diagnóstico por imagen , Escoliosis/diagnóstico por imagen , Escoliosis/cirugía , Fusión Vertebral/instrumentación , Vértebras Torácicas/diagnóstico por imagen , Adulto , Medicina Basada en la Evidencia , Estudios de Seguimiento , Humanos , Sesgo de Publicación , Estudios Retrospectivos
2.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;51(4): e6651, 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-889066

RESUMEN

The aim of this study was to evaluate the clinical and radiographic outcomes of upper thoracic (UT) versus lower thoracic (LT) upper instrumented vertebrae (UIV) for adult scoliosis by meta-analysis. We conducted a literature search in three databases to retrieve related studies up to March 15, 2017. The preliminary screened studies were assessed by two reviewers according to the selection criteria. All analyses were carried out using the statistical software package R version 2.31. Odds ratios (OR) with 95% confidence intervals (CI) were used to describe the results. The I2 statistic and Q statistic test were used for heterogeneity assessment. Egger's test was performed to detect publication bias. To assess the effect of each study on the overall pooled OR or standardized mean difference (SMD), sensitive analysis was conducted. Ten trials published between 2007 and 2015 were eligible and included in our study. Meta-analysis revealed that the UT group was associated with more blood loss (SMD=0.4779, 95%CI=0.3349-0.6209, Z=6.55, P<0.0001) and longer operating time (SMD=0.5780, 95%CI=0.1971-0.958, Z=2.97, P=0.0029) than the LT group. However, there was no significant difference in Oswestry Disability Index, Scoliosis Research Society (SRS) function subscores, radiographic outcomes including sagittal vertical axis, lumbar lordosis, and thoracic kyphosis, length of hospital stay, and revision rates between the two groups. No evidence of publication bias was found between the two groups. Fusion from the lower thoracic spine (below T10) has as advantages a shorter operation time and less blood loss than upper thoracic spine (above T10) in posterior long-segment fixation for degenerative lumbar scoliosis.


Asunto(s)
Humanos , Adulto , Vértebras Lumbares/diagnóstico por imagen , Escoliosis/diagnóstico por imagen , Escoliosis/cirugía , Fusión Vertebral/instrumentación , Vértebras Torácicas/diagnóstico por imagen , Medicina Basada en la Evidencia , Estudios de Seguimiento , Sesgo de Publicación , Estudios Retrospectivos
3.
Braz J Med Biol Res ; 50(7): e5403, 2017 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-28678913

RESUMEN

Solution reflux and edema hamper the convection-enhanced delivery of the standard treatment for glioma. Therefore, a real-time magnetic resonance imaging (MRI) method was developed to monitor the dosing process, but a quantitative analysis of local diffusion and clearance parameters has not been assessed. The objective of this study was to compare diffusion into the extracellular space (ECS) at different stages of rat C6 gliomas, and analyze the effects of the extracellular matrix (ECM) on the diffusion process. At 10 and 20 days, after successful glioma modeling, gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) was introduced into the ECS of rat C6 gliomas. Diffusion parameters and half-life of the reagent were then detected using MRI, and quantified according to the mathematical model of diffusion. The main ECM components [chondroitin sulfate proteoglycans (CSPGs), collagen IV, and tenascin C] were detected by immunohistochemical and immunoblot analyses. In 20-day gliomas, Gd-DTPA diffused more slowly and derived higher tortuosity, with lower clearance rate and longer half-life compared to 10-day gliomas. The increased glioma ECM was associated with different diffusion and clearance parameters in 20-day rat gliomas compared to 10-day gliomas. ECS parameters were altered with C6 glioma progression from increased ECM content. Our study might help better understand the glioma microenvironment and provide benefits for interstitial drug delivery to treat brain gliomas.


Asunto(s)
Neoplasias Encefálicas/patología , Espacio Extracelular/diagnóstico por imagen , Glioma/patología , Imagen por Resonancia Magnética/métodos , Animales , Western Blotting , Neoplasias Encefálicas/diagnóstico por imagen , Difusión , Progresión de la Enfermedad , Gadolinio DTPA , Glioma/diagnóstico por imagen , Inmunohistoquímica , Masculino , Ratas , Ratas Sprague-Dawley
4.
Genet Mol Res ; 16(1)2017 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-28252167

RESUMEN

Phosphorylation is an important part of post-translational modifications of proteins, and is essential for many biological activities. Phosphorylation and dephosphorylation can regulate signal transduction, gene expression, and cell cycle regulation in many cellular processes. Phosphorylation is extremely important for both basic research and drug discovery to rapidly and correctly identify the attributes of a new protein phosphorylation sites. Moreover, abnormal phosphorylation can be used as a key medical feature related to a disease in some cases. The using of computational methods could improve the accuracy of detection of phosphorylation sites, which can provide predictive guidance for the prevention of the occurrence and/or the best course of treatment for certain diseases. Furthermore, this approach can effectively reduce the costs of biological experiments. In this study, a flexible neural tree (FNT), particle swarm optimization, and support vector machine algorithms were used to classify data with secondary encoding according to the physical and chemical properties of amino acids for feature extraction. Comparison of the classification results obtained from the three classifiers showed that the classification of the FNT was the best. The three classifiers were then integrated in the form of a minority subordinate to the majority vote to obtain the results. The performance of the integrated model showed improvement in sensitivity (87.41%), specificity (87.60%), and accuracy (87.50%).


Asunto(s)
Algoritmos , Biología Computacional/métodos , Modelos Teóricos , Proteínas/metabolismo , Secuencia de Aminoácidos , Aminoácidos/química , Aminoácidos/genética , Aminoácidos/metabolismo , Animales , Sitios de Unión/genética , Bases de Datos de Proteínas , Humanos , Interacciones Hidrofóbicas e Hidrofílicas , Redes Neurales de la Computación , Fosforilación , Proteínas/química , Proteínas/genética , Reproducibilidad de los Resultados , Máquina de Vectores de Soporte
5.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;50(7): e5403, 2017. graf
Artículo en Inglés | LILACS | ID: biblio-951700

RESUMEN

Solution reflux and edema hamper the convection-enhanced delivery of the standard treatment for glioma. Therefore, a real-time magnetic resonance imaging (MRI) method was developed to monitor the dosing process, but a quantitative analysis of local diffusion and clearance parameters has not been assessed. The objective of this study was to compare diffusion into the extracellular space (ECS) at different stages of rat C6 gliomas, and analyze the effects of the extracellular matrix (ECM) on the diffusion process. At 10 and 20 days, after successful glioma modeling, gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) was introduced into the ECS of rat C6 gliomas. Diffusion parameters and half-life of the reagent were then detected using MRI, and quantified according to the mathematical model of diffusion. The main ECM components [chondroitin sulfate proteoglycans (CSPGs), collagen IV, and tenascin C] were detected by immunohistochemical and immunoblot analyses. In 20-day gliomas, Gd-DTPA diffused more slowly and derived higher tortuosity, with lower clearance rate and longer half-life compared to 10-day gliomas. The increased glioma ECM was associated with different diffusion and clearance parameters in 20-day rat gliomas compared to 10-day gliomas. ECS parameters were altered with C6 glioma progression from increased ECM content. Our study might help better understand the glioma microenvironment and provide benefits for interstitial drug delivery to treat brain gliomas.


Asunto(s)
Animales , Masculino , Ratas , Neoplasias Encefálicas/patología , Imagen por Resonancia Magnética/métodos , Espacio Extracelular/diagnóstico por imagen , Glioma/patología , Neoplasias Encefálicas/diagnóstico por imagen , Inmunohistoquímica , Western Blotting , Ratas Sprague-Dawley , Progresión de la Enfermedad , Gadolinio DTPA , Difusión , Glioma/diagnóstico por imagen
6.
Genet Mol Res ; 15(2)2016 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-27323137

RESUMEN

Henoch-Schönlein purpura nephritis (HSPN), the most serious long-term complication of Henoch-Schönlein purpura, is one of the most common renal diseases in children. Matrix metalloproteinase-9 (MMP-9) is implicated in the pathogenesis of renal diseases. Genomic DNA was isolated from the venous blood leukocytes of 220 unrelated patients with HSPN and 205 unrelated healthy individuals. To identify markers contributing to genetic susceptibility to HSPN, this study examined the potential association between HSPN and four single nucleotide polymorphisms of the MMP-9 gene (MMP9) (rs17576, rs3918254, rs3787268, and rs2236416) by using the MassARRAY system. The allelic or genotypic frequencies of the rs17576 (exon 6) and rs3918254 (intron 6) polymorphisms in HSPN were significantly different from those in the healthy controls. The HSPN subjects had a significantly higher frequency of the G allele of rs17576 (χ(2) = 8.416, P = 0.004, OR = 1.556, 95%CI = 1.153-2.100) and a significantly lower frequency of the A allele of rs2236416 (χ(2) = 10.363, P = 0.001, OR = 0.545, 95%CI = 0.375-0.791). Linkage disequilibrium was observed in two blocks (D' > 0.9; r(2) > 0.8 in control). In block 1, significantly more G-C haplotypes (P = 0.011) and significantly fewer A-C haplotypes (P = 0.008) were found in the HSPN subjects. In block 2, significantly more G-G haplotypes (P = 0.016) and significantly fewer A-G haplotypes (P = 0.006) were found in the HSPN subjects. These observations suggest that the rs17576 and rs3918254 polymorphisms of MMP9 are associated with HSPN.


Asunto(s)
Estudios de Asociación Genética , Vasculitis por IgA/genética , Metaloproteinasa 9 de la Matriz/genética , Adolescente , Niño , Preescolar , Exones/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Vasculitis por IgA/patología , Masculino , Polimorfismo de Nucleótido Simple
7.
Genet Mol Res ; 15(1)2016 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-26909901

RESUMEN

Chronic lymphocytic leukemia (CLL) is a disease that involves progressive accumulation of nonfunctioning lymphocytes and has a low cure rate. There is an urgent requirement to determine the molecular mechanism underlying this disease in order to improve the early diagnosis and treatment of CLL. In this study, genes differentially expressed between CLL samples and age-matched controls were identified using microRNA (miRNA) and mRNA expression profiles. Differentially expressed (DE) miRNA targets were predicted by combining five algorithms. Common genes were obtained on overlapping the DE mRNA and DE miRNA targets. Then, network and module analyses were performed. A total of 239 miRNA targets were predicted and 357 DE mRNAs were obtained. On intersecting miRNA targets and DE mRNAs, 33 common genes were obtained. The protein-protein interaction network and module analysis identified several crucial genes and modules that might be associated with the development of CLL. These DE mRNAs were significantly enriched in the hematopoietic cell lineage (P = 2.58E-4), mitogen-activated protein kinase signaling pathway (P = 0.0025), and leukocyte transendothelial migration pathway (P = 0.0026). Thus, we conducted biological analysis on integration of DE mRNAs and DE miRNAs in CLL, determined gene expression patterns, and screened out several important genes that might be related to CLL.


Asunto(s)
Regulación Leucémica de la Expresión Génica , Redes Reguladoras de Genes , Leucemia Linfocítica Crónica de Células B/genética , MicroARNs/genética , ARN Mensajero/genética , Algoritmos , Estudios de Casos y Controles , Linaje de la Célula/genética , Perfilación de la Expresión Génica , Células Madre Hematopoyéticas/metabolismo , Células Madre Hematopoyéticas/patología , Humanos , Leucemia Linfocítica Crónica de Células B/metabolismo , Leucemia Linfocítica Crónica de Células B/patología , Linfocitos/metabolismo , Linfocitos/patología , MicroARNs/metabolismo , Proteínas Quinasas Activadas por Mitógenos/genética , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Mapeo de Interacción de Proteínas , ARN Mensajero/metabolismo , Transducción de Señal , Migración Transendotelial y Transepitelial/genética
8.
Genet Mol Res ; 14(3): 9571-84, 2015 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-26345890

RESUMEN

Although many studies have been carried out on monoclonal gammopathy of unknown significances (MGUS), smoldering multiple myeloma (SMM), and multiple myeloma (MM), their classification and underlying pathogenesis are far from elucidated. To discover the relationships among MGUS, SMM, and MM at the transcriptome level, differentially expressed genes in MGUS, SMM, and MM were identified by the rank product method, and then co-expression networks were constructed by integrating the data. Finally, a pathway-network was constructed based on Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis, and the relationships between the pathways were identified. The results indicated that there were 55, 78, and 138 pathways involved in the myeloma tumor developmental stages of MGUS, SMM, and MM, respectively. The biological processes identified therein were found to have a close relationship with the immune system. Processes and pathways related to the abnormal activity of DNA and RNA were also present in SMM and MM. Six common pathways were found in the whole process of myeloma tumor development. Nine pathways were shown to participate in the progression of MGUS to SMM, and prostate cancer was the sole pathway that was involved only in MGUS and MM. Pathway-network analysis might provide a new indicator for the developmental stage diagnosis of myeloma tumors.


Asunto(s)
Redes Reguladoras de Genes , Redes y Vías Metabólicas , Mieloma Múltiple/genética , Mieloma Múltiple/metabolismo , Transducción de Señal , Biología Computacional , Conjuntos de Datos como Asunto , Perfilación de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Humanos , Anotación de Secuencia Molecular , Gammopatía Monoclonal de Relevancia Indeterminada/genética , Gammopatía Monoclonal de Relevancia Indeterminada/metabolismo , Gammopatía Monoclonal de Relevancia Indeterminada/patología , Mieloma Múltiple/patología , Paraproteinemias/genética , Paraproteinemias/metabolismo , Paraproteinemias/patología
9.
Genet Mol Res ; 14(2): 5407-16, 2015 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-26125736

RESUMEN

We investigated type II deiodinase (DIO2) polymorphisms and serum thyroid hormone levels in subjects with mild cognitive impairment (MCI) in a Uygur population. We studied the DIO2 Thr92Ala (rs225014) and ORFa-Gly3Asp (rs12885300) polymorphisms of 129 unrelated MCI cases and 131 matched controls. All subjects were genotyped using SNaPshot SNP genotyping assays. Serum thyroid hormone levels were measured by radioimmunoassay. Levels of serum triiodothyronine and thyroxine in the MCI group were significantly lower than those in the control group. Genotype and allele frequencies in the DIO2 gene between the MCI and control groups were not significantly different. There was no association in genotype and allele frequencies of Thr92Ala between genders in both groups. ORFa-Gly3Asp genotype and allele frequencies were significantly different in patients and controls by gender. The Asp allele was less frequent among male MCI patients compared to controls (odds ratio = 0.471, 95% confidence interval = 0.261-0.848). However, female Asp carriers were more frequent among MCI patients than among controls (odds ratio = 2.842, 95% confidence interval = 1.326-6.09). Serum levels of triiodothyronine and thyroxine were lower in individuals of the Ala/Ala genotype than in those with the Thr/Thr or Thr/Ala genotype. Serum levels of triiodothyronine were lower in male Gly/Gly carriers than in Gly/Asp or Asp/Asp carriers. Decreased serum levels of triiodothyronine and thyroxine may influence the incidence of MCI in the Uygur population. DIO2 gene polymorphisms may play a role in the incidence of MCI in male patients.


Asunto(s)
Disfunción Cognitiva/sangre , Predisposición Genética a la Enfermedad , Yoduro Peroxidasa/sangre , Tiroxina/sangre , Triyodotironina/sangre , Adulto , Disfunción Cognitiva/patología , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Yodotironina Deyodinasa Tipo II
10.
Genet Mol Res ; 13(4): 9976-85, 2014 Nov 28.
Artículo en Inglés | MEDLINE | ID: mdl-25501209

RESUMEN

We examined whether the X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism is a risk factor for bladder cancer by conducting a meta-analysis. We searched the Pubmed and Embase databases for study retrieval. This meta-analysis examined 16 case-control studies, including 892 prostate cancer cases and 1020 healthy controls. Meta-analysis results based on these studies showed no significant association between the XRCC1 Arg399Gln polymorphism and bladder cancer risk in comparisons of the glutamine (Gln) allele vs arginine (Arg) allele, Arg/Arg vs (Gln/Gln + Gln/Arg), Gln/Gln vs (Gln/Arg + Arg/Arg), Gln/Gln vs Arg/Arg, and Gln/Arg vs Arg/Arg [odds ratio (OR) = 0.96, 95% confidence interval (CI) = 0.80-1.16, P = 0.70; OR = 1.13, 95%CI = 0.70-1.82, P = 0.62; OR = 0.92, 95%CI = 0.79-1.07, P = 0.29; OR = 0.90, 95%CI = 0.69-1.16, P = 0.42; OR = 0.89, 95%CI = 0.75-1.05, P = 0.17, respectively]. In subgroup analysis by ethnicity, no association was observed between the XRCC1 Arg399Gln polymorphism and bladder cancer risk in Caucasian, Mongoloid, or black populations. We identified no association between the XRCC1 Arg399Gln polymorphism and bladder cancer risk.


Asunto(s)
Proteínas de Unión al ADN/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Neoplasias de la Vejiga Urinaria/genética , Alelos , Frecuencia de los Genes/genética , Heterogeneidad Genética , Humanos , Sesgo de Publicación , Factores de Riesgo , Proteína 1 de Reparación por Escisión del Grupo de Complementación Cruzada de las Lesiones por Rayos X
11.
Genet Mol Res ; 13(3): 6602-9, 2014 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-25177941

RESUMEN

The nucleotide-binding site (NBS) disease-resistance genes are the largest category of plant disease-resistance gene analogs. The complete set of disease-resistant candidate genes, which encode the NBS sequence, was filtered in the genomes of two varieties of foxtail millet (Yugu1 and 'Zhang gu'). This study investigated a number of characteristics of the putative NBS genes, such as structural diversity and phylogenetic relationships. A total of 269 and 281 NBS-coding sequences were identified in Yugu1 and 'Zhang gu', respectively. When the two databases were compared, 72 genes were found to be identical and 164 genes showed more than 90% similarity. Physical positioning and gene family analysis of the NBS disease-resistance genes in the genome revealed that the number of genes on each chromosome was similar in both varieties. The eighth chromosome contained the largest number of genes and the ninth chromosome contained the lowest number of genes. Exactly 34 gene clusters containing the 161 genes were found in the Yugu1 genome, with each cluster containing 4.7 genes on average. In comparison, the 'Zhang gu' genome possessed 28 gene clusters, which had 151 genes, with an average of 5.4 genes in each cluster. The largest gene cluster, located on the eighth chromosome, contained 12 genes in the Yugu1 database, whereas it contained 16 genes in the 'Zhang gu' database. The classification results showed that the CC-NBS-LRR gene made up the largest part of each chromosome in the two databases. Two TIR-NBS genes were also found in the Yugu1 genome.


Asunto(s)
Biología Computacional/métodos , Resistencia a la Enfermedad/genética , Enfermedades de las Plantas/genética , Setaria (Planta)/genética , Secuencia de Aminoácidos , Sitios de Unión/genética , Mapeo Cromosómico , Cromosomas de las Plantas/genética , Genes de Plantas/genética , Variación Genética , Genoma de Planta/genética , Datos de Secuencia Molecular , Familia de Multigenes , Nucleótidos/metabolismo , Filogenia , Proteínas de Plantas/clasificación , Proteínas de Plantas/genética , Homología de Secuencia de Aminoácido , Setaria (Planta)/clasificación , Especificidad de la Especie
12.
Genet Mol Res ; 13(2): 3577-85, 2014 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-24854438

RESUMEN

Elevated intraocular pressure is recognized as the principal risk factor for development of optic nerve head (ONH) injury. Lamina cribrosa (LC) cells and astrocytes are two types of cells in the ONH. We attempted to identify more target genes and predict their underlying molecular mechanisms. In this study, we performed meta-analysis of the data from two microarray sets containing samples from LC cells and astrocytes each. Our analysis indicated that 47 differentially expressed genes (DEGs) had been identified, and 24 of them were used to construct a bibliometric network with other related genes, including GSTT1 ENO2, CPE, PTN, PTGDS, IL6, MMP1, and EGFR. Further, our results predicted these genes might be involved in glaucoma development through Toll-like receptor signaling pathway, ErbB signaling pathway, and glioma and other cancer-related pathways. Therefore our study provides potential target genes and pathways for future therapeutic studies of glaucoma.


Asunto(s)
Astrocitos/metabolismo , Regulación de la Expresión Génica , Glaucoma/genética , Traumatismos del Nervio Óptico/genética , Astrocitos/patología , Bibliometría , Redes Reguladoras de Genes , Glaucoma/patología , Humanos , Disco Óptico/metabolismo , Disco Óptico/patología , Traumatismos del Nervio Óptico/patología , Proteómica
13.
Genet Mol Res ; 12(4): 4207-12, 2013 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-24114215

RESUMEN

We investigated the expression of Src homology 2 domain-containing phosphatase (SHP-2) in laryngeal carcinoma and its clinical significance. Expression of SHP-2 was detected by immunohistochemical staining in normal mucosal tissues and various grades of laryngeal carcinoma. We looked for possible correlations between expression of SHP-2 in laryngeal carcinoma and clinical staging and lymph node metastasis. Immunochemical staining results revealed that the SHP-2 expression was significantly higher (88.24%) in laryngeal carcinoma than in normal mucosal tissue (25%). Additionally, the expression of SHP-2 was significantly correlated with lymph node metastasis, but not with clinical stage and gender of patients with laryngeal carcinoma. Therefore, SHP-2 may be useful as a prognostic marker for laryngeal carcinoma and as a therapeutic target in laryngeal carcinoma treatment.


Asunto(s)
Carcinoma/enzimología , Neoplasias Laríngeas/enzimología , Proteína Tirosina Fosfatasa no Receptora Tipo 11/metabolismo , Carcinoma/mortalidad , Carcinoma/secundario , Femenino , Humanos , Neoplasias Laríngeas/mortalidad , Neoplasias Laríngeas/patología , Laringe/enzimología , Metástasis Linfática , Masculino , Persona de Mediana Edad , Análisis de Supervivencia
14.
Genet Mol Res ; 10(4): 2569-77, 2011 Oct 19.
Artículo en Inglés | MEDLINE | ID: mdl-22033938

RESUMEN

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients. Conflicting findings have been reported in different populations; few studies have explored whether this apparent association is affected by other host factors, such as specific epilepsy syndrome. We performed a case-control study to determine whether the risk of infantile spasms is influenced by common ABCB1 polymorphisms in a Han Chinese children's population consisting of 91 patients and 368 healthy individuals. DNA was isolated from whole blood, and three genetic polymorphisms (C1236T, G2677T/A, and C3435T) were assayed by PCR-RFLP. There were significant differences in the distributions of 3435TT [P = 0.001; odds ratio = 2.47; 95% confidence interval (CI) = 1.44-4.27] and 3435CT [P < 0.001; odds ratio = 0.28; 95% CI = 0.15-0.54] genotypes between infantile spasm cases and controls. No significant differences were observed in allelic and haplotypic frequencies of ABCB1 polymorphisms between the two groups. This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome.


Asunto(s)
Miembro 1 de la Subfamilia B de Casetes de Unión a ATP/genética , Pueblo Asiatico , Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Longitud del Fragmento de Restricción , Espasmos Infantiles , Subfamilia B de Transportador de Casetes de Unión a ATP , Pueblo Asiatico/etnología , Pueblo Asiatico/genética , Estudios de Casos y Controles , China/etnología , Femenino , Predisposición Genética a la Enfermedad/etnología , Predisposición Genética a la Enfermedad/genética , Humanos , Lactante , Recién Nacido , Masculino , Factores de Riesgo , Espasmos Infantiles/etnología , Espasmos Infantiles/genética
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