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1.
Mol Med Rep ; 15(2): 793-797, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28035386

RESUMO

Triphalangeal thumb­polysyndactyly syndrome (TPT­PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre­axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT­PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior­posterior axis and numbers of digits in limb bud development. Point mutation or duplication in the ZPA regulatory sequence (ZRS), a cis­regulator of SHH, will lead to TPT­PS. The present study describes a 1­year­old female congenital heart disease (CHD) patient with TPT­PS phenotype. In this Han Chinese family with TPT­PS, high resolution single nucleotide polymorphism array technology identified a novel 0.29 Mb duplication comprising ZRS at 7q36.3 where LMBR1 is located. Additionally, a novel deletion of 22q11.21 was detected in the proband with Tetralogy of Fallot. However, the parents and other relatives of the patient did not harbor this genomic lesion nor CHD. The findings supported the hypothesis that an increased copy number variation of ZRS is the genetic mechanism underlying the phenotype of TPT­PS, and corroborated that 22q11.21 deletion is a genetic cause of CHD.


Assuntos
Cromossomos Humanos Par 7/genética , Anormalidades Congênitas/genética , Duplicação Gênica/genética , Cardiopatias/genética , Disostose Mandibulofacial/genética , Proteínas de Membrana/genética , Cromossomos Humanos Par 22 , Anormalidades Congênitas/patologia , DNA/química , DNA/isolamento & purificação , DNA/metabolismo , Feminino , Cardiopatias/complicações , Cardiopatias/congênito , Cardiopatias/patologia , Humanos , Lactente , Cariótipo , Disostose Mandibulofacial/complicações , Disostose Mandibulofacial/patologia , Análise de Sequência com Séries de Oligonucleotídeos , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Proteínas com Domínio T/genética
2.
Oncotarget ; 7(4): 4507-21, 2016 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-26683359

RESUMO

Esophageal squamous cell carcinoma (ESCC) is the leading cause of cancer-related death worldwide. Previous studies have suggested that DNA methylation involved in the development of ESCC. However, the precise mechanisms underlying the regulation and maintenance of the methylome as well as their relationship with ESCC remain poorly understood. Herein, we used methylated DNA immunoprecipitation sequencing (MeDIP-Seq) and RNA-Seq to investigate whole-genome DNA methylation patterns and the genome expression profiles in ESCC samples. The results of MeDIP-Seq analyses identified differentially methylated regions (DMRs) covering almost the entire genome with sufficient depth and high resolution. The gene ontology (GO) analysis showed that the DMRs related genes belonged to several different ontological domains, such as cell cycle, adhesion, proliferation and apoptosis. The RNA-Seq analysis identified a total of 6150 differentially expressed genes (3423 up-regulated and 2727 down-regulated). The significant GO terms showed that these genes belonged to several molecular functions and biological pathways. Moreover, the bisulfite-sequencing of genes MLH1, CDH5, TWIST1 and CDX1 confirmed the methylation status identified by MeDIP-Seq. And the mRNA expression levels of MLH1, TWIST1 and CDX1 were consistent with their DNA methylation profiles. The DMR region of MLH1 was found to correlate with survival. The identification of whole-genome DNA methylation patterns and gene expression profiles in ESCC provides new insight into the carcinogenesis of ESCC and represents a promising avenue through which to investigate novel therapeutic targets.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma de Células Escamosas/genética , Metilação de DNA , Neoplasias Esofágicas/genética , Perfilação da Expressão Gênica , Genoma Humano , Idoso , Carcinoma de Células Escamosas/patologia , Estudos de Casos e Controles , Ilhas de CpG , Neoplasias Esofágicas/patologia , Feminino , Ontologia Genética , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Taxa de Sobrevida
3.
J Cardiothorac Surg ; 10: 178, 2015 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-26615403

RESUMO

BACKGROUND: A primary chondromyxoid fibroma (CMF) arising from sternum is quite uncommon tumor in thoracic surgery. Removal of giant sternal tumors requires extensive resection of the anterior chest wall, and results in deformity and paradoxical movement. CASE PRESENTATION: A 40-year-old female presented a progressively enlarging mass of her anterior chest wall. Computed tomography revealed an osteolytic lesion with discrete calcification in the bone marrow of the sternum. The tumor extended across the destroyed cortex to the parietal and visceral soft aspects, involving some of the costal cartilage and most of the sternal body. Partial sternal resection was performed successfully and an individual-specific stainless steel plate was used to reconstruct the anterior chest wall. The early result was good, however, nine months after the first surgery, fractures of plate were found at bilateral plate-clavicular junction. The plate had to be removed, and a titanium mesh was used to reconstruction of the chest wall. The patient has been of disease free for more than 18 month after the second surgery. CONCLUSIONS: Our experience indicated that the individual-specific plate may not be suitable for reconstructing both the anterior chest wall as well as the sternoclavicular joint after subtotal sternum resection.


Assuntos
Neoplasias Ósseas/cirurgia , Condroma/cirurgia , Fibroma/cirurgia , Estadiamento de Neoplasias , Esternotomia/métodos , Esterno , Neoplasias Torácicas/cirurgia , Adulto , Neoplasias Ósseas/diagnóstico , Condroma/diagnóstico , Feminino , Fibroma/diagnóstico , Humanos , Neoplasias Torácicas/diagnóstico , Tomografia Computadorizada por Raios X
4.
BMC Cancer ; 14: 98, 2014 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-24529193

RESUMO

BACKGROUND: Esophageal squamous cell carcinoma (ESCC) is one of the most lethal malignancies with a 5-year survival rate less than 15%. Understanding of the molecular mechanisms involved in the pathogenesis of ESCC becomes critical to develop more effective treatments. METHODS: Mcl-1 expression was measured by reverse transcription (RT)-PCR and Western blotting. Human Mcl-1 promoter activity was evaluated by reporter gene assay. The interactions between DNA and transcription factors were confirmed by electrophoretic mobility shift assay (EMSA) in vitro and by chromatin immunoprecipitation (ChIP) assay in cells. RESULTS: Four human ESCC cell lines, TE-1, Eca109, KYSE150 and KYSE510, are revealed increased levels of Mcl-1 mRNA and protein compare with HaCaT, an immortal non-tumorigenic cell line. Results of reporter gene assays demonstrate that human Mcl-1 promoter activity is decreased by mutation of kappaB binding site, specific NF-kappaB inhibitor Bay11-7082 or dominant inhibitory molecule DNMIkappaBalpha in TE-1 and KYSE150 cell lines. Mcl-1 protein level is also attenuated by Bay11-7082 treatment or co-transfection of DNMIkappaBalpha in TE-1 and KYSE150 cells. EMSA results indicate that NF-kappaB subunits p50 and p65 bind to human Mcl-1-kappaB probe in vitro. ChIP assay further confirm p50 and p65 directly bind to human Mcl-1 promoter in intact cells, by which regulates Mcl-1 expression and contributes to the viability of TE-1 cells. CONCLUSIONS: Our data provided evidence that one of the mechanisms of Mcl-1 expression in human ESCC is regulated by the activation of NF-kappaB signaling. The newly identified mechanism might provide a scientific basis for developing effective approaches to treatment human ESCC.


Assuntos
Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/metabolismo , Neoplasias Esofágicas/patologia , Proteína de Sequência 1 de Leucemia de Células Mieloides/metabolismo , NF-kappa B/biossíntese , NF-kappa B/genética , NF-kappa B/metabolismo , Linhagem Celular Transformada , Linhagem Celular Tumoral , Sobrevivência Celular/genética , Carcinoma de Células Escamosas do Esôfago , Humanos , Transdução de Sinais/genética
5.
Eur Spine J ; 23(3): 560-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24142043

RESUMO

PURPOSE: To investigate the relationship between spinopelvic parameters and clinical symptoms for patients with severe isthmic spondylolisthesis. METHODS: A series of spinopelvic parameters were measured in 64 patients with L5 severe isthmic spondylolisthesis. The patients were divided into two groups according to Oswestry score obtained preoperatively, i.e. mild or severe low back pain group. T test was used to compare parameters between two groups, and multiple linear regression analysis was employed to investigate the association between parameters and Oswestry score. RESULTS: Compared with two group patients, parameters of spondylolisthesis grade, pelvic tilt (PT), lumbar lordosis (LL), T9 tilting angle (T9TA), sacro-femoral horizontal distance (SFHD), distance between perpendicular line through C7 and sacrum (SC7D), pelvic tilt/sacral slope (PT/SS), sacro-femoral horizontal distance/vertical distance (SFHD/SFVD), and lumbar lordosis/thoracic kyphosis (LL/TK) were significantly increased in severe low back pain group, while SS and SFVD were significantly decreased, and no significant difference was found for pelvic incidence (PI) and TK. The statistical analysis showed that spondylolisthesis grade, PT, SC7D, LL, SFHD, PT/SS, SFHD/SFVD, and LL/TK had a significant positive correlation with Oswestry score, with an order of spondylolisthesis grade > PT/SS > SC7D > PT > SFHD/SFVD > SFHD > LL/TK > LL. No significant correlation was found for PI, TK, T9TA with Oswestry score, while SS and SFVD had a significant negative correlation with Oswestry score, with an order of SS > SFVD. CONCLUSIONS: The spinopelvic parameters (spondylolisthesis grade, SS, PT, SC7D, LL, SFVD, SFHD, PT/SS, SFHD/SFVD, LL/TK) are significantly correlated with clinical symptoms of severe isthmic spondylolisthesis in patients. The association of the exacerbation of low back pain with SS (correlation coefficient -0.981, strong) and SFVD (correlation coefficient -0.802, strong) is the most significant correlation.


Assuntos
Cifose/patologia , Lordose/patologia , Dor Lombar/etiologia , Espondilolistese/fisiopatologia , Adolescente , Adulto , Idoso , Feminino , Humanos , Incidência , Vértebras Lombares/patologia , Masculino , Pessoa de Meia-Idade , Pelve , Estudos Prospectivos , Sacro , Índice de Gravidade de Doença , Espondilolistese/cirurgia , Vértebras Torácicas/patologia , Adulto Jovem
6.
Zhonghua Yi Xue Za Zhi ; 93(15): 1133-7, 2013 Apr 16.
Artigo em Chinês | MEDLINE | ID: mdl-23902880

RESUMO

OBJECTIVE: To explore the relationship between variations of severe isthmic spondylolisthesis spino-pelvic parameters and clinical symptoms. METHODS: A retrospective study of spino-pelvic parameters was conducted for 45 patients with L5 severe isthmic spondylolisthesis. Their spino-pelvic parameters were analyzed on preoperative full spinal radiography: grade of spondylolisthesis, pelvic incidence (PI), sacral slope (SS), pelvic tilt (PT), lumbar lordosis (LL), thoracic kyphosis (TK), SFHD, SFVD, SC7D and T9 tilting angle. According to the Oswestry score, the patients with low back pain were divided into light and severe groups. T-tests were used to compare their parameters. The analyses of multiple factor correlation, linear regression and stepwise regression were used to examine the associations between all parameters and Oswestry score. RESULTS: Grade of spondylolisthesis, PT, LL, T9 tilting angle, SFHD, SC7D, PT/SS, SFHD/SFVD, LL/TK were significantly greater and SS, SFVD were significantly smaller for patients with severe low back pain versus light low back pain (P < 0.05). PI or TK had no statistically significant difference between two groups. Multiple factor correlation, linear regression and stepwise regression: Grade of spondylolisthesis, PT, SC7D, LL and SFHD had significant positive correlations with Oswestry score. Degree of positive correlation: Grade of spondylolisthesis > SC7D > PT > LL > SFHD. And PI, TK or T9 tilting angle had no significant correlation with Oswestry score. SS and SFVD had significant negative correlations with Oswestry score. Degree of negative correlation: SS > SFVD. PT/SS, SFHD/SFVD and LL/TK had significant positive correlation with Oswestry score. Degree of positive correlation: PT/SS> SFHD/SFVD > LL/TK. CONCLUSION: Clinical symptoms of severe isthmic spondylolisthesis have significant positive correlations with grade of spondylolisthesis, PT, SC7D, LL, SFHD, PT/SS, SFHD/SFVD, LL/TK and significant negative correlations with SS and SFVD. Low back pain symptom has no significant correlation with PI, TK or T9 tilting angle.


Assuntos
Pelve/patologia , Coluna Vertebral/patologia , Espondilolistese/patologia , Adolescente , Adulto , Feminino , Humanos , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Estudos Retrospectivos , Adulto Jovem
7.
J Pediatr Surg ; 48(5): 1137-41, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23701795

RESUMO

BACKGROUND: Although the Nuss procedure has been widely accepted as the standard procedure for the repair of pectus excavatum in children, adolescents, and even adults, few reports have documented the bar removal procedure as a whole. In this study, we retrospectively evaluated the safety and efficacy of a modified Nuss bar removal procedure. METHODS: A total of 186 patients undergoing bar removal after the Nuss procedure were included in this study. All cases had unilateral incision (metallic stabilizers were used on one side in all patients). Patients were laid down in the supine position and given general anesthesia through a single lumen tracheal tube or laryngeal mask. The bar was pulled out along the thoracic wall without straightening or overturning through the original right incision. RESULTS: The mean operation time for bar removal was 12 min (range: 8-20 min). The mean operative blood loss was 5 mL (range: 3-20 mL). No patient suffered from an infection at the incision after surgery, but 3 patients (1.6%) developed mild pneumothorax. All patients were discharged from the hospital within a day after the surgery. The bar in 133 patients (71.5%) was removed in 2 years after Nuss procedure but more than two and a half years in 53 patients (28.5%). The patients were followed up for 4 to 48 months with a mean of 21.4 months. No recurrence was observed during the follow-up period. CONCLUSIONS: The Nuss bar can be safely and easily removed in 2 years or longer after the Nuss procedure. Our study suggests that, after removing the metallic stabilizer, the bar should be turned with the flipper to loosen it from the surrounding fibrous capsule and then pulled out along the original surgical incision without bending or turning.


Assuntos
Remoção de Dispositivo/métodos , Tórax em Funil/cirurgia , Dispositivos de Fixação Ortopédica , Adulto , Perda Sanguínea Cirúrgica , Criança , Pré-Escolar , Cicatriz/prevenção & controle , Feminino , Seguimentos , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pneumotórax/epidemiologia , Pneumotórax/etiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/prevenção & controle , Estudos Retrospectivos , Rotação , Esterno/cirurgia , Adulto Jovem
8.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 38(5): 503-9, 2013 May.
Artigo em Chinês | MEDLINE | ID: mdl-23719525

RESUMO

OBJECTIVE: To analyze and discuss the feasibility of rabbit carotid artery treated with decellularization and photo-oxidation. METHODS: Sixty vascular slices of rabbit carotid artery were divided into a fresh group, a cryopreservation group, a glutaraldehyde group, and a decellularization plus photo-oxidation group 15 in each group. To evaluate the physical properties of all the rabbit carotid arteries by testing heat-shrinking temperature, tensile stress and the max elongation of each group. Then by buliding subcutaneous embedding model in SD rats we evaluated the biological stability and the anti-calcification function property of the above rabbit carotid arteries, and the detection means included HE stain, atomic absorption spectrometry and Von-Kossa calcium salt stain. RESULTS: The heat-shrinking temperature, tensile stress and the max elongation in the cryopreservation group were lower or shorter than those of the other groups and the difference had statistical significance (P<0.05). Although the heat-shrinking temperature and the tensile stress in the decellularization plus photo-oxidation group were lower or shorter than those in the glutaraldehyde group (P<0.05), the max elongation in the decellularization plus photo-oxidation group was much longer than that in the glutaraldehyde group (P<0.05). The rabbit carotid artery treated with decellularization plus photo-oxidation showed lower immunogenicity and better biological stability and better anti-calcification property compared with the other groups. CONCLUSION: Decellularization associated with photo-oxidation is a suitable and novel protocol for small caliber artery allograft with a diameter of less than 6 mm which is unbreakable to mechanical properties and conducive to biological stability, which has a broad prospect.


Assuntos
Prótese Vascular , Calcinose/prevenção & controle , Artérias Carótidas/citologia , Separação Celular/métodos , Oxidantes Fotoquímicos/farmacologia , Animais , Artérias Carótidas/transplante , Feminino , Técnicas de Preparação Histocitológica , Masculino , Oxirredução , Coelhos , Ratos , Ratos Sprague-Dawley , Transplante Heterólogo
9.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 38(3): 274-8, 2013 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-23545816

RESUMO

OBJECTIVE: To evaluate the safety and efficacy of modified technique for removing Nuss bar after Nuss procedure. METHODS: We reviewed 186 patients undergoing bar removal after repair of pectus excavatum with Nuss procedure at our institution from December 2008 to February 2012. All patients had unilateral incision (metallic stabilizers have been used on one side in all patients). Under general anesthesia with single lumen tracheal tube or laryngeal mask, with the patient lying down in supine position, the bar was pulled out along the thoracic wall without overturning or straightening. RESULTS: Totally 132 patients (71.0%) had the bar removed 2 years after the Nuss procedure, 1 (0.5%) removed within 1 year and 53 (28.5%) removed over 2 and half years. The operation time for bar removal was 9-20 (13.1 ± 3.4) min, and the operative blood loss was 3-20 (5.2 ± 2.7) mL. There was no hemorrhage. Three patients (1.6%) developed mild pneumothorax and none showed infection of incision after the operation. All patients were discharged 1 day after the surgery and followed up for 4-48 (21.4 ± 6.8) months. Recurrence was found in the one who which had the bar removed within 1 year (0.5%). CONCLUSION: With modified procedures, Nuss bar can be easily and safely removed 2 years or longer after the Nuss operation. After removing the metallic stabilizer, the bar should be turned and then pulled out along the original surgical incision without bending or turning.


Assuntos
Remoção de Dispositivo/métodos , Tórax em Funil/cirurgia , Dispositivos de Fixação Ortopédica , Próteses e Implantes , Adolescente , Perda Sanguínea Cirúrgica , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Masculino , Pneumotórax/epidemiologia , Pneumotórax/etiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/prevenção & controle , Esterno/cirurgia , Adulto Jovem
10.
J Pharmacol Sci ; 121(4): 343-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23514788

RESUMO

We explored the neuroprotection by atorvastatin in the ischemia/reperfusion model of rat and its microRNA-related mechanisms. At first, we uncovered a previously unknown alteration in temporal expression of a large set of microRNAs following spinal cord ischemia-reperfusion injury (IRI). The target genes for the differentially expressed microRNAs include genes encoding components that are involved in the inflammation, apoptosis, and neural damage that are known to play important roles in IRI. Atorvastatin pretreatment restored part of the up or down regulations. These findings suggest that altered expression of microRNAs may contribute to the mechanism of neuroprotection of statins in spinal cord IRI.


Assuntos
Expressão Gênica/efeitos dos fármacos , Ácidos Heptanoicos/farmacologia , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , MicroRNAs/metabolismo , Fármacos Neuroprotetores , Pirróis/farmacologia , Traumatismo por Reperfusão/genética , Isquemia do Cordão Espinal/genética , Animais , Atorvastatina , Modelos Animais de Doenças , Ácidos Heptanoicos/administração & dosagem , Pirróis/administração & dosagem , Ratos , Reação em Cadeia da Polimerase em Tempo Real , Traumatismo por Reperfusão/patologia , Medula Espinal/metabolismo , Isquemia do Cordão Espinal/patologia
11.
Heart Lung Circ ; 22(3): 229-30, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22889648

RESUMO

BACKGROUND AND AIM OF THE STUDY: Double-orifice tricuspid valve (DOTV) is an extremely rare congenital anomaly. By analysing the feature of its diagnosis and surgical treatment, we want to summarise the clinical experience of treating DOTV. MATERIALS AND METHODS: Review two cases of DOTV treated by us between August 2009 and December 2011. One case was diagnosed as partial atrioventricular septum defect, and the other was tetralogy of Fallot. The defects were both identified during the operation for other congenital cardiac malformations and both accessory orifices were normal. But one of them was sutured because of its possible effect in future. RESULTS: Cardiac colour Doppler echocardiogram was made at three to five days after operation and all results were normal. No operative complication or late deaths occurred. The time of follow-up were one month, three months, six months, one year and two years after operation, and all examinations were normal. CONCLUSIONS: The accessory orifice of DOTV patients has its own independent chordae tendinea and mastoid muscle. So the gap of tricuspid valve should be excluded and the classification should be amended according to it. It should be surgically treated, when there is of dysfunction with it or potential harmful effect in sequent treatment.


Assuntos
Doenças das Valvas Cardíacas/diagnóstico , Valva Tricúspide/anormalidades , Adulto , Idoso , Feminino , Comunicação Interatrial/complicações , Comunicação Interatrial/cirurgia , Doenças das Valvas Cardíacas/congênito , Doenças das Valvas Cardíacas/cirurgia , Humanos , Achados Incidentais , Masculino , Tetralogia de Fallot/complicações , Tetralogia de Fallot/cirurgia , Adulto Jovem
12.
Oncol Rep ; 29(3): 1115-23, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23254782

RESUMO

LIM and SH3 protein 1 (LASP1) is an actin-binding protein which is overexpressed in many types of cancers and plays important roles in cancer progression. however, the role of LASP1 in esophageal squamous cell carcinoma (ESCC) is still unknown. We sought to analyze the expression level of LASP1 in ESCC, and the role of LASP1 in the development of ESCC was further investigated. We evaluated the expression levels of LASP1 in 89 ESCC tissues and two ESCC cell lines using quantitative real-time polymerase chain reaction, western blotting and immunohistochemistry. The effects of LASP1 depletion on tumor cell behavior were investigated using gene transfection and small interfering RNA (siRNA) in ESCC cell lines in vitro. The expression levels of LASP1 at the mRNA and protein levels were significantly higher in ESCC tissues and ESCC cell lines compared to adjacent tissues. Immunohistochemistry showed that LASP1 was localized in the cytoplasm and nuclei of tumor epithelia. Silencing of LASP1 in ECA109 and KYSE510 cell lines significantly inhibited cell proliferation, migration and invasion when compared with the negative control cells in vitro. LASP1 may play an important role in the pathogenesis of ESCC and shows promise as a treatment target in ESCC.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Carcinoma de Células Escamosas/metabolismo , Movimento Celular , Proliferação de Células , Proteínas do Citoesqueleto/metabolismo , Neoplasias Esofágicas/metabolismo , Proteínas com Domínio LIM/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Carcinoma de Células Escamosas/patologia , Linhagem Celular Tumoral , Proteínas do Citoesqueleto/genética , Neoplasias Esofágicas/patologia , Carcinoma de Células Escamosas do Esôfago , Expressão Gênica , Técnicas de Silenciamento de Genes , Humanos , Proteínas com Domínio LIM/genética , Invasividade Neoplásica , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , RNA Interferente Pequeno/genética
13.
Oncol Res ; 21(3): 145-54, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24512729

RESUMO

MicroRNA (miR) plays an important role in tumorigenesis including malignant peripheral nerve sheath tumor (MPNST). miR-210 downregulation is frequently observed in a variety of tumors. In this study, miR-210 was identified as downregulated in MPNST cells, and its potential target ephrin-A3 (EFNA3) was upregulated in them compared with neurofibroma cells using quantitative real-time (qRT)-PCR. Luciferase reporter assay further demonstrates that EFNA3 is a target of miR-210. Then it is confirmed that miR-210 can regulate EFNA3 mRNA and protein expression in MPNST ST88-14 (NF1 wild-type) and sNF96.2 (NF1 mutant type) cell lines. The functions of miR-210 in MPNST cells were investigated, and the results showed that overexpression of miR-210 increased cellular viability, colony formation, S phase percentage, and invasiveness of MPNST cells. Inversely, inhibition of miR-210 expression induced suppression of proliferation and invasion of MPNST cells. These results suggest that miR-210-mediated EFNA3 promotion of proliferation and invasion of MPNST cells plays an important role in MPNST tumorigenesis and progression. miR-210 and EFNA3 may be candidate novel therapeutic targets for MPNST.


Assuntos
Efrina-A3/genética , MicroRNAs/genética , Neurofibroma/genética , Neurofibroma/patologia , Processos de Crescimento Celular/genética , Regulação para Baixo , Efrina-A3/biossíntese , Efrina-A3/metabolismo , Células HEK293 , Humanos , MicroRNAs/biossíntese , MicroRNAs/metabolismo , Invasividade Neoplásica , Neurofibroma/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Fase S/genética , Transfecção
14.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 37(7): 711-3, 2012 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-22886220

RESUMO

OBJECTIVE: To evaluate the efficiency of video-assisted thoracoscopic surgery for primary palm hyperhidrosis by T4 sympathicotomy plus bypass fiber resection, and to describe our experience regarding the prevention of related postoperative complications. METHODS: Clinical data for 32 cases of primary palmar hyperhidrosis in patients who underwent bilateral video-assisted thoracoscopic sympathictomy plus bypass fiber resection from October 2008 to June 2011 were analyzed retrospectively. RESULTS: The operation was performed successfully on all patients, and their palmar hyperhidrosis was completely alleviated after operation. No severe, surgery-related, postoperative complications occurred. CONCLUSION: Video-assisted thoracoscopic sympathictomy is an effective, safe and minimally invasive procedure for primary palmar hyperhidrosis.


Assuntos
Mãos , Hiperidrose/cirurgia , Simpatectomia/métodos , Cirurgia Torácica Vídeoassistida/métodos , Adolescente , Adulto , Feminino , Humanos , Hiperidrose/etiologia , Fibras Nervosas , Complicações Pós-Operatórias/prevenção & controle , Adulto Jovem
15.
Mol Med Rep ; 6(3): 459-65, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22751839

RESUMO

Esophageal cancer (EC) is one of the most common malignant tumors worldwide. EC is usually diagnosed at a locally advanced stage or at a stage with involvement of lymph nodes. Despite aggressive treatment, the overall five-year survival rate remains poor. microRNAs (miRNAs) are small, non-coding endogenous RNAs that negatively regulate gene expression at the post-transcriptional and/or translational level. Accumulating evidence suggests that the deregulation of miRNAs not only results in cancer progression, but also directly promotes tumor initiation. Previous studies found that miRNAs are frequently deregulated in EC, indicating that miRNAs are important in tumorigenesis. In this review, we summarize therecently recognized miRNA expression and its impact on the biology of EC and the potential applications for EC.


Assuntos
Neoplasias Esofágicas/metabolismo , MicroRNAs/metabolismo , Biomarcadores/metabolismo , Epigênese Genética , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/patologia , Regulação Neoplásica da Expressão Gênica , Humanos , Invasividade Neoplásica , Polimorfismo de Nucleotídeo Único , Prognóstico
16.
Am J Med Genet A ; 158A(8): 1918-23, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22786616

RESUMO

Noonan syndrome (NS) is a clinically variable and genetically heterogeneous disorder with congenital heart defects (CHD), short stature, and craniofacial dysmorphisms. Gain-of-function mutations in RAF1 can cause NS and the highly related NS with multiple lentigines (previously known as LEOPARD syndrome). Here we report on a 15-year-old male with NS phenotype: short stature, heart defects, low posterior hairline, facial malformations, malformed left ear with sensorineural hearing loss, widely spaced nipples, and unilateral upper limb anomaly. Using high-resolution SNP array technology, we identified in this patient a 0.25 Mb microduplication at 3p25.2 in which RAF1 is located. Sequence analysis did not identify mutations in genes associated with Holt-Oram syndrome. These findings suggest that duplications of genomic regions encompassing RAF1 could cause NS and are consistent with the notion that rare copy number variations encompassing causative genes may underlie a small percentage of patients with syndromic CHD like NS.


Assuntos
Duplicação Cromossômica , Cromossomos Humanos Par 3 , Cardiopatias Congênitas/genética , Síndrome de Noonan/genética , Adolescente , Humanos , Masculino , Polimorfismo de Nucleotídeo Único
17.
Oncol Rep ; 28(1): 283-90, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22576803

RESUMO

Adhesion regulating molecule 1 (ADRM1), a 19S proteasome cap-associated protein, and nuclear factor kappa B (NF-κB), a protein transcription factor controlling DNA transcription, may play an important role in tumorigenesis. Overexpression of ADRM1 and activation of NF-κB are well-observed in hepatocellular carcinoma (HCC). However, little is known about whether both are functionally connected during hepatocarcinogenesis, and the mechanisms involved. In this study, using laboratory techniques including short hairpin RNA (shRNA)-mediated knockdown, immunohistochemistry (IHC), both semi-quantitative and real-time RT-PCR, western blotting, MTT assay, transwell assay, flow cytometry and electrophoretic mobility shift assay (EMSA), the expression of ADRM1, the effects of ADRM1 knockdown on NF-κB activity, as well as the biological behavior of HCC cells including proliferation, migration, invasion and apoptosis were investigated in the samples from HCC patients and HCC cell lines. We found that both mRNA and protein levels of ADRM1 were increased in HCC tissues and that this increase in ADRM1 expression was parallel to the metastatic potential of HCC cell lines. After ADRM1 knockdown in MHCC97-H cells, the expression of IκB-α was increased and the NF-κB activity was reduced. Furthermore, ADRM1 knockdown inhibited MHCC97-H cell proliferation and induced cell apoptosis, and the migration and invasion of MHCC97-H cells were significantly repressed. These results indicate that there is a clear functional connection between ADRM1 and NF-κB in hepatocarcinogenesis, despite the precise mechanisms through which the two work together still being unknown.


Assuntos
Carcinoma Hepatocelular/metabolismo , Transformação Celular Neoplásica/metabolismo , Neoplasias Hepáticas/metabolismo , Glicoproteínas de Membrana/genética , NF-kappa B/metabolismo , Apoptose , Carcinoma Hepatocelular/patologia , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Feminino , Técnicas de Silenciamento de Genes , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Neoplasias Hepáticas/patologia , Masculino , Glicoproteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Invasividade Neoplásica , Interferência de RNA , Transcrição Gênica , Regulação para Cima
18.
Cell Biochem Biophys ; 62(1): 101-5, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22170604

RESUMO

We sought to compare the preventive effects of mitomycin-C(MMC) and chitosan on intraarticular adhesion after knee surgery in rabbits. For this purpose, 48 New-Zealand rabbits were randomly and equally divided into MMC, chitosan, and control groups. Approximately 10 × 10 mm(2) of the cortical bone was removed from both sides of left femoral condyle and the cancellous bone underneath was exposed. The decorticated areas were topically treated with MMC and chitosan while control group was treated with physiological saline. The lower left limb was fixed in flexed position with Kirschner-wire for 4 weeks postoperatively. After 4 weeks, gross and histopathological examination, biochemical analysis, and fibroblast counts were performed on knee intraarticular adhesion in each group. The data show mild membrane-like fibrous intraarticular adhesion, presented in loose, in MMC group. There was moderate intraarticular adhesion in chitosan group while in controls; there was large-size compact fibrous tissue adhesion. Hydroxyproline contents and fibroblast quantity of MMC and chitosan groups were lower (P < 0.05) than that of control group. We, therefore, concluded that MMC and chitosan could prevent intraarticular adhesion of the knee in rabbits by inhibiting fibroblast proliferation and reducing collagenous fiber formation while MMC had a better preventive effect than that of chitosan.


Assuntos
Alquilantes/farmacologia , Quitosana/farmacologia , Cicatriz/prevenção & controle , Articulação do Joelho/efeitos dos fármacos , Articulação do Joelho/cirurgia , Mitomicina/farmacologia , Aderências Teciduais/prevenção & controle , Animais , Cicatriz/metabolismo , Cicatriz/patologia , Modelos Animais de Doenças , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Fibroblastos/patologia , Hidroxiprolina/metabolismo , Articulação do Joelho/metabolismo , Articulação do Joelho/patologia , Masculino , Coelhos , Aderências Teciduais/metabolismo , Aderências Teciduais/patologia
19.
Cancer Invest ; 29(8): 548-56, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21843048

RESUMO

To investigate whether alterations in histone modifications occur in esophageal squamous cell carcinoma (ESCC), we measured histone H3/ H4 acetylation and H3K4/H3K27 methylation levels, as well as the expression of chromatin modifier genes in tumor and healthy esophageal tissue from ESCC patients. We found evidence of global H3 and H4 hypoacetylation, H3K4 and H3K27 hypermethylation in ESCC tissue. Both H3 hypoacetylation and H3K27 hypermethylation correlated with the severity and histological differentiation of the tumor, and H3K4 hypermethylation also correlated with tumor differentiation. Our results suggest that aberrant histone modifications may play an important role in the development and progression of ESCC.


Assuntos
Carcinoma de Células Escamosas/metabolismo , Neoplasias Esofágicas/metabolismo , Histonas/metabolismo , Acetilação , Idoso , Feminino , Histona Desacetilase 1/fisiologia , Humanos , Masculino , Metilação , Pessoa de Meia-Idade , Processamento de Proteína Pós-Traducional
20.
Braz. j. med. biol. res ; 44(7): 618-623, July 2011. ilus
Artigo em Inglês | LILACS | ID: lil-595709

RESUMO

Taurine has positive effects on bone metabolism. However, the effects of taurine on osteoblast apoptosis in vitro have not been reported. The aim of this study was to investigate the activity of taurine on apoptosis of mouse osteoblastic MC3T3-E1 cells. The data showed that 1, 5, 10, or 20 mM taurine resulted in 16.7, 34.2, 66.9, or 63.75 percent reduction of MC3T3-E1 cell apoptosis induced by the serum deprivation (serum-free α-MEM), respectively. Taurine (1, 5, or 10 mM) also reduced cytochrome c release and inhibited activation of caspase-3 and -9, which were measured using fluorogenic substrates for caspase-3/caspase-9, in serum-deprived MC3T3-E1 cells. Furthermore, taurine (10 mM) induced extracellular signal-regulated kinase (ERK) phosphorylation in MC3T3-E1 cells. Knockdown of the taurine transporter (TAUT) or treatment with the ERK-specific inhibitor PD98059 (10 μM) blocked the activation of ERK induced by taurine (10 mM) and abolished the anti-apoptotic effect of taurine (10 mM) in MC3T3-E1 cells. The present results demonstrate for the first time that taurine inhibits serum deprivation-induced osteoblast apoptosis via the TAUT/ERK signaling pathway.


Assuntos
Animais , Bovinos , Camundongos , Apoptose/efeitos dos fármacos , Apoptose/fisiologia , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Glicoproteínas de Membrana/metabolismo , Proteínas de Membrana Transportadoras/metabolismo , Osteoblastos/efeitos dos fármacos , Taurina/farmacologia , Análise de Variância , Caspase 9/metabolismo , /metabolismo , Osteoblastos/metabolismo , RNA Mensageiro/metabolismo
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