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1.
Ann Vasc Surg ; 106: 264-272, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38815920

RESUMO

BACKGROUND: This study was performed to summarize our experience in treating acute superior mesenteric artery embolism (SMAE) by percutaneous mechanical thrombectomy (PMT). METHODS: Between January 2023 and October 2023, 18 patients presenting with acute mesenteric ischemia were admitted to our center, including 11 cases of SMAE, 3 cases of superior mesenteric artery thrombosis, and 4 cases of superior mesenteric vein thrombosis. We retrospectively reviewed 8 patients (4 males and 4 females; range, 51-79 years; mean, 62.50 ± 9.67 years) who underwent treatment of acute SMAE using the AcoStream system. The patients had no obvious evidence of intestinal necrosis as shown by peritoneal puncture or computed tomography. Thrombectomy was performed on the superior mesenteric artery (SMA) using an 8F AcoStream thrombus aspiration system (Acotec, China). The demographics, risk factors, therapeutic effect, complications, mortality, and follow-up of the study population were assessed. RESULTS: The technical success rate was 100%. After 1-3 passes (2.38 ± 0.92) and aspiration thrombectomy, complete thrombus removal was achieved in 7 (87.50%) patients. One patient received an adjunctive catheter-directed thrombolysis due to partial thrombus removal. Thrombolysis was conducted for 2 days, resulting in complete resolution of the thrombus. The other 7 patients did not receive adjunctive endovascular intervention due to complete thrombus removal and no residual stenosis. No distal embolization or device-related complications were noted during the procedure. After the procedure, sufficient clinical improvement was seen in 6 patients within 1-2 days. Two patients showed no significant improvement of their symptoms. Laparotomy was performed on day 1 and day 2 after thrombectomy in patients 3 and 7, respectively. Intestinal necrosis was diagnosed operatively and intestinal resection was performed. All patients were discharged 6-15 days (9.50 ± 3.07) after admission without perioperative complication or death. The mean follow-up period was 5.00 ± 3.30 months (range, 1-10 months), and the follow-up rate was 100%. During the follow-up, all patients remained symptom-free. Computed tomography angiography images showed good flow in the trunk and branches of the SMA in all patients. CONCLUSIONS: PMT using the AcoStream system is a minimally invasive, safe, and effective technique for acute SMAE. Early application of PMT can achieve immediate revascularization of the SMA and have the potential advantage of avoiding laparotomy or reducing the extension of enterectomy, as it could theoretically restore intestinal perfusion in less time than open revascularization. If the symptoms do not improve after PMT, exploratory laparotomy should be scheduled as soon as possible. Further studies are necessary on this field to confirm these findings.

2.
Nutr Cancer ; 74(9): 3172-3178, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35414283

RESUMO

Many studies have been published to assess the association about dietary protein intake on the risk of pancreatic cancer, but with inconsistent result. This meta-analysis aimed to evaluate whether protein intake could affect the risk of pancreatic cancer. A systematic literature search was performed in PubMed, EMBASE and Web of Science up to October 1, 2019. Pooled relative risks (RR) and 95% confidence intervals (CI) were calculated using a random-effect model. A total of 14 studies (12 case-control studies and two cohort studies) were included. Overall, total protein intake had no significant association on the risk of pancreatic cancer (RR = 1.02, 95%CI= 0.85-1.22, I2=45.7%). Subgroup analyses showed such relationships were almost not influenced by study design and geographic location. Interestingly, when we performed the subgroup analysis by protein type, the opposite association was found in animal protein intake (RR = 1.37, 95%CI= 0.93-2.01) and vegetable protein intake (RR = 0.78, 95%CI= 0.54-1.14), although these two groups were not statistically significant. In conclusion, this meta-analysis indicated that dietary total protein intake may be not associated with the risk of pancreatic cancer. However, protein type may be affecting the result which was found from our research. Therefore, studies with detailed information, especially protein type, are warranted to further confirm these findings.


Assuntos
Proteínas Alimentares , Neoplasias Pancreáticas , Estudos de Casos e Controles , Humanos , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/etiologia , Risco , Fatores de Risco , Verduras , Neoplasias Pancreáticas
3.
Ann Vasc Surg ; 59: 202-207, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30802573

RESUMO

BACKGROUND: To investigate the effect of bowel resection combined with fluoroscopic-assisted balloon thrombectomy for small bowel infarction caused by acute mesenteric venous thrombosis (AMVT). METHODS: Between June 2016 and August 2017, nine patients (seven males and two females; range, 40-73 years; mean, 55.11 ± 10.08 years) with small bowel infarction caused by AMVT underwent bowel resection combined with fluoroscopic-assisted balloon thrombectomy. The demographics, risk factors, therapeutic effect, complications, mortality, and follow-up of the study population were assessed. RESULTS: The effective rate was 100% with substantial clinical improvement in symptoms. All patients underwent small bowel resection with primary anastomosis. The length of bowel resection ranged from 60 to 170 cm (108.67 ± 35.05). In none of the cases there was surgery with second look. The patients were discharged 13-42 days (20.11 ± 8.75) after admission without perioperative complication or death. The follow-up period was 8-21 months (12.89 ± 4.65), and the follow-up rate was 100%. All patients returned to normal activities, regained lost body weight, and remained asymptomatic during the follow-up period. CONCLUSIONS: The combination therapy of bowel resection and fluoroscopic-assisted balloon thrombectomy is technically feasible and may be beneficial for small bowel infarction caused by AMVT in removing a thrombus efficiently, relieving symptoms rapidly, averting second-look surgery, lowering extensive surgical resections, and improving the prognosis.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório , Infarto/cirurgia , Intestino Delgado/irrigação sanguínea , Oclusão Vascular Mesentérica/cirurgia , Veias Mesentéricas/cirurgia , Radiografia Intervencionista/métodos , Trombectomia/métodos , Trombose Venosa/cirurgia , Adulto , Idoso , Terapia Combinada , Angiografia por Tomografia Computadorizada , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Feminino , Fluoroscopia , Humanos , Infarto/diagnóstico por imagem , Infarto/fisiopatologia , Masculino , Oclusão Vascular Mesentérica/diagnóstico por imagem , Oclusão Vascular Mesentérica/fisiopatologia , Veias Mesentéricas/diagnóstico por imagem , Veias Mesentéricas/fisiopatologia , Pessoa de Meia-Idade , Flebografia/métodos , Radiografia Intervencionista/efeitos adversos , Recuperação de Função Fisiológica , Estudos Retrospectivos , Circulação Esplâncnica , Trombectomia/efeitos adversos , Trombectomia/instrumentação , Fatores de Tempo , Resultado do Tratamento , Dispositivos de Acesso Vascular , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/fisiopatologia
4.
Pharm Biol ; 55(1): 1863-1867, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28614959

RESUMO

CONTEXT: Combining sorafenib with triptolide could inhibit tumour growth with greater efficacy than single-agent treatment. However, their herb-drug interaction remains unknown. OBJECTIVE: This study investigates the herb-drug interaction between triptolide and sorafenib. MATERIALS AND METHODS: The effects of triptolide (10 mg/kg) on the pharmacokinetics of different doses of sorafenib (20, 50 and 100 mg/kg) in rats, and blood samples were collected within 48 h and evaluated using LC-MS/MS. The effects of triptolide on the absorption and metabolism of sorafenib were also investigated using Caco-2 cell monolayer model and rat liver microsome incubation systems. RESULTS: The results showed that the Cmax (low dose: 72.38 ± 8.76 versus 49.15 ± 5.46 ng/mL; medium dose: 178.65 ± 21.05 versus 109.31 ± 14.17 ng/mL; high dose: 332.81 ± 29.38 versus 230.86 ± 9.68 ng/mL) of sorafenib at different doses increased significantly with the pretreatment of triptolide, and while the oral clearance rate of sorafenib decreased. The t1/2 of sorafenib increased significant (p < 0.05) from 9.02 ± 1.16 to 12.17 ± 2.95 h at low dose with the pretreatment of triptolide. Triptolide has little effect on the absorption of sorafenib in Caco-2 cell transwell model. However, triptolide could significantly decrease the intrinsic clearance rate of sorafenib from 51.7 ± 6.37 to 32.4 ± 4.43 µL/min/mg protein in rat liver microsomes. DISCUSSION AND CONCLUSIONS: These results indicated that triptolide could change the pharmacokinetic profiles of sorafenib in rats; these effects might be exerted via decreasing the intrinsic clearance rate of sorafenib in rat liver.


Assuntos
Antineoplásicos Fitogênicos/farmacologia , Antineoplásicos/farmacocinética , Diterpenos/farmacologia , Microssomos Hepáticos/efeitos dos fármacos , Niacinamida/análogos & derivados , Fenantrenos/farmacologia , Compostos de Fenilureia/farmacocinética , Inibidores de Proteínas Quinases/farmacocinética , Animais , Antineoplásicos/administração & dosagem , Antineoplásicos/sangue , Antineoplásicos/metabolismo , Biotransformação/efeitos dos fármacos , Células CACO-2 , Citocromo P-450 CYP3A/química , Citocromo P-450 CYP3A/metabolismo , Inibidores do Citocromo P-450 CYP3A/farmacologia , Relação Dose-Resposta a Droga , Interações Medicamentosas , Enterócitos/efeitos dos fármacos , Enterócitos/metabolismo , Compostos de Epóxi/farmacologia , Feminino , Meia-Vida , Humanos , Absorção Intestinal/efeitos dos fármacos , Masculino , Taxa de Depuração Metabólica/efeitos dos fármacos , Microssomos Hepáticos/enzimologia , Microssomos Hepáticos/metabolismo , Niacinamida/administração & dosagem , Niacinamida/sangue , Niacinamida/metabolismo , Niacinamida/farmacocinética , Compostos de Fenilureia/administração & dosagem , Compostos de Fenilureia/sangue , Compostos de Fenilureia/metabolismo , Inibidores de Proteínas Quinases/administração & dosagem , Inibidores de Proteínas Quinases/sangue , Inibidores de Proteínas Quinases/metabolismo , Ratos Sprague-Dawley , Sorafenibe
5.
Neuroepidemiology ; 43(3-4): 253-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25531943

RESUMO

BACKGROUND: Epidemiological studies evaluating the association between vitamin E intake and glioma risk have produced inconsistent results. Thus, we conducted a meta-analysis to summarize the evidence from epidemiological studies of vitamin E intake with the risk of glioma. METHODS: Pertinent studies were identified by a search in pubmed and web of knowledge up to August 2014. The random-effect model was used to combine the results. Publication bias was estimated using the Egger's regression asymmetry test. RESULTS: Twelve studies including 3180 glioma cases about vitamin E intake with the risk of glioma were included in this meta-analysis. The combined relative risk (RR) of glioma associated with vitamin E intake was 0.88 (95% CI = 0.69-1.12). The association was significant neither in the case-control studies nor in the cohort studies. No publication biases were found. CONCLUSIONS: Our analysis indicated that vitamin E intake is not associated with the risk of glioma.


Assuntos
Neoplasias Encefálicas/epidemiologia , Suplementos Nutricionais/efeitos adversos , Glioma/epidemiologia , Vitamina E/efeitos adversos , Adulto , Idoso , Neoplasias Encefálicas/prevenção & controle , Pré-Escolar , Feminino , Glioma/prevenção & controle , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Vitamina E/administração & dosagem , Adulto Jovem
6.
J Chin Med Assoc ; 87(1): 126-130, 2024 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-38016115

RESUMO

BACKGROUND: To determine the feasibility and safety of ultrasound-guided totally implantable venous access port (TIVAP) implantation via the posterior approach of the internal jugular vein (IJV). METHODS: From September 2021 to August 2022, 88 oncology patients underwent ultrasound-guided implantation of TIVAPs via the posterior approach of the IJV for the administration of chemotherapy. The catheter tip was adjusted to be positioned at the cavoatrial junction under fluoroscopic guidance. Clinical data including surgical success, success rate for the first attempt, intraoperative, and postoperative complications were all collected and analyzed. RESULTS: All patients underwent successful surgery (100%), whereby 58 were via the right IJV and 30 via the left IJV, and the success rate for the first attempt was 96.59% (85/88). The operation time was 20 to 43 minutes, with an average of 26.59 ± 6.18 minutes with no intraoperative complications. The follow-up duration ranged from 1 to 12 months (mean = 5.28 ± 3.07) and the follow-up rate was 100%. The rate of postoperative complications was 4.55% (4/88), including port-site infection in two cases, fibrin sheath formation in one case, and port flip in one case. No other complications were observed during follow-up. CONCLUSION: Ultrasound-guided TIVAP implantation via the posterior approach of the IJV is feasible, safe, and effective, with a low rate of intraoperative and postoperative complications. Not only was the curvature of the catheter device smooth, but patients were satisfied with the comfort and cosmetic appearance. Additionally, we could reduce the possible complications of pinching and kinking of the catheter by using this approach. Therefore, further large-sample, prospective, and randomized controlled trials are warranted.


Assuntos
Cateterismo Venoso Central , Humanos , Veias Jugulares/diagnóstico por imagem , Veias Jugulares/cirurgia , Cateteres de Demora , Estudos Prospectivos , Complicações Pós-Operatórias , Ultrassonografia de Intervenção , Estudos Retrospectivos
7.
Onco Targets Ther ; 12: 2373-2381, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30992673

RESUMO

INTRODUCTION: Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related death worldwide. This study aimed to investigate the expression patterns of microRNA-664 (miR-664) in HCC tissues and cells, and assess its clinical significance and functional role in HCC. PATIENTS AND METHODS: One hundred and thirty-four paired HCC and non-cancerous tissues were collected from patients who underwent surgery in Qianfoshan Hospital affiliated to Shandong University (Shandong, China) between 2009 and 2012. Expression of miR-664 was measured by quantitative real-time polymerase chain reaction (qRT-PCR). Prognostic value of miR-664 in HCC was evaluated using Kaplan-Meier survival analysis and Cox regression analysis. Cell proliferation was analyzed using the CCK-8 assay, and cell migration and invasion of HCC cells was evaluated by the Transwell assay. RESULTS: Expression of miR-664 was significantly upregulated in HCC tissues and cells when compared with the normal controls (all P<0.05). MiR-664 expression was associated with lymph node metastasis, TNM stage and differentiation (all P<0.05) in the HCC patients. High miR-664 expression predicted poor overall survival (log-rank P=0.004) and acted as an independent prognostic factor (HR =1.945, 95% CI=1.078-3.508, P=0.027). According to cell experiments, the upregulation of miR-664 could promote, whereas the downregulation of miR-664 could inhibit proliferation, migration and invasion of HCC cells (all P<0.05). SIVA1 was predicted as a direct target gene of miR-664 in HCC. CONCLUSION: All data indicated that overexpression of miR-664 is associated with poor prognosis of HCC patients, and may enhance tumor progression of HCC by targeting SIVA1. MiR-664 may be a candidate therapeutic target for HCC treatment.

8.
Biosci Rep ; 36(6)2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27756825

RESUMO

Whether dietary vitamin A intake could reduce pancreatic cancer risk is still conflicting. We therefore conducted a meta-analysis to summarize the evidence from epidemiological studies. We searched the databases of PubMed and Web of Knowledge up to July 2016. Random model was used to combine study-specific relative risks (RR) and 95% confidence interval (CI). Publication bias was assessed by Egger regression asymmetry test and Begg's funnel plot. Eleven studies (10 case-control studies and 1 cohort study) involving 2705 pancreatic cancer cases were included in the present study. The RR (95% CI) of pancreatic cancer for highest category of vitamin A intake compared with lowest category was 0.839 (95% CI=0.712-0.988) with low heterogeneity detected (I2=17.8%, Pheterogeneity=0.274). The relationships were also significant for studies designed by case-control [RR=0.808, 95% CI=0.690-0.947], as well as in European population [RR=0.821, 95% CI=0.693-0.972]. No evidence of publication bias was found. This meta-analysis demonstrated that dietary vitamin A intake might inversely associated with the risk of pancreatic cancer.


Assuntos
Neoplasias Pancreáticas/etiologia , Neoplasias Pancreáticas/metabolismo , Vitamina A/administração & dosagem , Vitamina A/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Estudos Transversais , Dieta , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Risco
9.
Mol Med Rep ; 12(5): 7310-6, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26458985

RESUMO

Vascular disorders, including hypertension, atherosclerosis and restenosis, arise from dysregulation of vascular smooth muscle cell (VSMC) differentiation, which can be controlled by regulatory factors. The present study investigated the regulatory mechanism of the phenotypic transformation of human VSMCs by NELIN in order to evaluate its potential as a preventive and therapeutic of vascular disorders. An in vitro model of NELIN­overexpressing VSMCs was prepared by transfection with a lentiviral (LV) vector (NELIN­VSMCs) and NELIN was slienced using an a lentiviral vector with small interfering (si)RNA in another group (LV­NELIN­siRNA­VSMCs). The effects of NELIN overexpression or knockdown on the phenotypic transformation of human VSMCs were observed, and its regulatory mechanism was studied. Compared with the control group, cells in the NELIN­VSMCs group presented a contractile phenotype with a significant increase of NELIN mRNA, NELIN protein, smooth muscle (SM)α­actin and total Ras homolog gene family member A (RhoA) protein expression. The intra­nuclear translocation of SMα­actin­serum response factor (SMα­actin­SRF) occurred in these cells simultaneously. Following exposure to Rho kinsase inhibitor Y­27632, SRF and SMα­actin expression decreased. However, cells in the LV­NELIN­siRNA­VSMCs group presented a synthetic phenotype, and the expression of NELIN mRNA, NELIN protein, SMα­actin protein and total RhoA protein was decreased. The occurrence of SRF extra­nuclear translocation was observed. In conclusion, the present study suggested that NELIN was able to activate regulatory factors of SMα­actin, RhoA and SRF successively in human VSMCs cultured in vitro. Furthermore, NELIN­induced phenotypic transformation of human VSMCs was regulated via the RhoA/SRF signaling pathway. The results of the present study provide a foundation for the use of NELIN in preventive and therapeutic treatment of vascular remodeling diseases, including varicosity and atherosclerosis.


Assuntos
Proteínas dos Microfilamentos/metabolismo , Músculo Liso Vascular/citologia , Miócitos de Músculo Liso/citologia , Actinas/análise , Actinas/metabolismo , Amidas/farmacologia , Diferenciação Celular , Células Cultivadas , Técnicas de Silenciamento de Genes , Humanos , Masculino , Proteínas dos Microfilamentos/análise , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Relaxantes Musculares Centrais/farmacologia , Músculo Liso Vascular/efeitos dos fármacos , Músculo Liso Vascular/metabolismo , Miócitos de Músculo Liso/efeitos dos fármacos , Miócitos de Músculo Liso/metabolismo , Fenótipo , Transporte Proteico/efeitos dos fármacos , Piridinas/farmacologia , Fator de Resposta Sérica/análise , Fator de Resposta Sérica/metabolismo , Regulação para Cima , Proteína rhoA de Ligação ao GTP/análise , Proteína rhoA de Ligação ao GTP/metabolismo
10.
Exp Ther Med ; 9(3): 845-849, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25667639

RESUMO

The aim of the present study was to investigate the expression of NELIN and SM22α in lower extremity varicose vein tissue, and their association with varicose veins. Tissue samples were collected from 18 patients with lower extremity varicose veins for the experimental group, while normal great saphenous vein tissue was reserved during coronary artery bypass surgery from 14 patients for the controls. Reverse transcription polymerase chain reaction (RT-PCR) analysis was applied to detect the mRNA expression levels of NELIN and SM22α, while immunohistochemical techniques were used to detect the protein expression levels in the normal and abnormal veins. RT-PCR results revealed that the mRNA expression levels of NELIN and SM22α in the experimental group decreased significantly when compared with the control group (P<0.01). In the two groups, immunohistochemical staining demonstrated that NELIN and SM22α were primarily expressed in the cytoplasm of smooth muscle cells, and the expression quantity decreased significantly in the experimental group when compared with the control group (P<0.05). The low expression of SM22α in the primary lower limb varicose vein tissue indicated that the vascular smooth muscle cell layer had transformed from a contractile to a secretory phenotype, which may have resulted in the remodeling of the vein walls and the occurrence of varicose veins. Therefore, NELIN and SM22α were demonstrated to play a key role in the development of varicosity.

11.
Sci Rep ; 5: 8243, 2015 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-25649888

RESUMO

Quantification of the association between the intake of cholesterol and risk of pancreatic cancer is still conflicting. We therefore conducted a meta-analysis to summarize the evidence from epidemiological studies of cholesterol intake and the risk of pancreatic cancer. Pertinent studies were delivered by PubMed and Web of Knowledge issued through April of 2014. A random effects model was used to process the data for analysis. Sensitivity analysis and publication bias were conducted. Dose-response relationship was assessed by restricted cubic spline and variance-weighted least squares regression analysis. With 4513 pancreatic cases exemplified, 16 articles were applied in the meta-analysis. Pooled results suggest that cholesterol intake level was significantly associated with the risk of pancreatic cancer [summary relative risk (RR) = 1.371, 95%CI = 1.155-1.627, I(2) = 58.2%], especially in America [summary RR = 1.302, 95%CI = 1.090-1.556]. A linear dose-response relation was attested that the risk of pancreatic cancer rises by 8% with 100 mg/day of cholesterol intake. [summary RR = 1.08, 95% CI = 1.04-1.13]. In conclusion, our analysis suggests that a high intake of cholesterol might increase the risk of pancreatic cancer, especially in America.


Assuntos
Colesterol/efeitos adversos , Dieta/efeitos adversos , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/etiologia , Colesterol/administração & dosagem , Humanos , Razão de Chances , Viés de Publicação , Risco
12.
Am J Cancer Res ; 5(3): 1089-100, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26045988

RESUMO

Our recent study observed that the expression of Musashi-2 (MSI2), a member of the Musashi family, was up-regulated in hepatitis B virus (HBV) related hepatocellular carcinoma parenchymal cells. Using quantitative PCR, tissue microarray (TMA) and immunohistochemical staining, we evaluated MSI2 mRNA and protein levels in tumor tissues from patients with different stages of hepatocellular carcinoma with paired adjacent noncancerous sample sets. The following techniques were used to further investigate MSI2 function and its potential molecular mechanism: RNAi, wound healing assay, Transwell assay, quantitative PCR and western blot analysis. Immunohistochemical detection of MSI2 on a TMA containing 106 paired specimens showed that increased cytoplasmic and nuclear MSI2 staining was significantly associated with tumor size, tumor differentiation, recurrence, TNM stage, vessel invasion and Ki-67 proliferative index. Patients with MSI2-positive tumors had a significantly higher disease recurrence rate and poorer survival than patients with MSI2-negative tumors after radical surgery. Based on univariate analysis, MSI2 expression showed an unfavorable influence on both disease-free survival and overall survival. Multivariate analysis revealed that higher MSI2 expression, together with tumor size, tumor differentiation, tumor thrombus, and Ki-67 expression were independent predictors of overall survival. With MSI2 knockdown, hepatoma cell migration and invasion were inhibited and the expression of ß-catenin, T cell factor (TCF) and lymphoid enhancer factor (LEF) were dysregulated. Thus, we propose that MSI2 may predict unfavorable outcomes in hepatitis B virus related hepatocellular carcinoma and promote cancer progression via the Wnt/ß-catenin signaling pathway.

13.
Diagn Pathol ; 9: 25, 2014 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-24484584

RESUMO

Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other five members from the same family was also implemented to confirm new variants which may contribute to the pathogenesis of the disease. Two new variants, including one nonsense SNP in the Marfan syndrome gene FBN1 and one missense mutation in exon 15 of LRP1, which may be related to the phenotype of the patients were identified. The exome sequencing analysis provides us a new insight into the molecular events governing pathogenesis of Marfan syndrome. VIRTUAL SLIDE: http://www.diagnosticpathology.diagnomx.eu/vs/1229110069114125.


Assuntos
Análise Mutacional de DNA/métodos , Proteína-1 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Mutação , Adulto , Exoma/genética , Feminino , Fibrilina-1 , Fibrilinas , Testes Genéticos/métodos , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase
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