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排序方式: 共有113条查询结果,搜索用时 15 毫秒
1.
Marco W.F. van Gent Sebastiaan Velthuis Martijn C. Post Repke J. Snijder Cornelis J.J. Westermann Tom G.W. Letteboer Johannes J. Mager 《American journal of medical genetics. Part A》2013,161(3):461-466
The clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) is based on the Curaçao criteria. Three out of four criteria are required for a definite clinical diagnosis HHT, two criteria are considered “possible” HHT, and 0 or 1 criterion makes the diagnosis unlikely. However, these consensus diagnostic criteria have not been validated. We report on the diagnostic accuracy of the clinical criteria. A total of 450 consecutive persons ≥16 years of age were screened for HHT between May 2004 and September 2009, including a chest CT to screen for pulmonary arteriovenous malformations (AVMs). We selected 263 first‐degree relatives of disease‐causing mutation carriers who underwent mutation analysis. Genetic test results were considered the gold standard. The family mutation was present in 186 patients (mean age 42.9 ± 14.6 yr; 54.8% female). A clinical diagnosis was definite, “possible”, and unlikely in 168 (90.3%), 17 (9.1%), and 1 (0.5%) patient, respectively. In 77 persons the family mutation was absent (mean age 37.1 ± 12.3 yr, 59.7% female). In this group a clinical diagnosis was definite, possible, and unlikely in 0, 35 (45.5%), and 42 (54.5%) persons, respectively. The positive predictive value of a definite clinical diagnosis was 100% (95% CI 97.8–100), the negative predictive value of an unlikely diagnosis 97.7% (95% CI 87.9–99.6). Of 52 patients with “possible” HHT, 17 (32.7%) displayed an HHT‐causing mutation. The Curaçao clinical criteria have a good diagnostic performance. Genetic testing is particularly helpful in patients with a “possible” clinical diagnosis HHT. © 2013 Wiley Periodicals, Inc. 相似文献
2.
目的:研究Endoglin在各期血管瘤组织中的表达情况、与转化生长因子-β1(TGF-β1)的关系。方法:随机选取51例血管瘤病例(增生期29例、退化期22例)和5例正常皮肤组织,用免疫组化方法分别显示Endoglin、TGF-β1在组织中的表达情况,并运用病理图像分析软件分析它们的表达差异和关系。结果:Endoglin在增生期血管瘤组织的新生毛细血管中有较强表达(光密度值和阳性面积率分别为0.219 0±0.009 0、0.119 5±0.034 7),而在退化期血管瘤和正常皮肤组织中表达较弱(分别为0.123 5±0.005 9、0.057 8±0.018 8;0.122 9±0.004 6、0.057 2±0.017 5),有显著统计学差异(P<0.01)。TGF-β1在退化期血管瘤组织中的表达明显强于增生期和正常皮肤组织,具有显著性差异(P<0.01)。Endoglin和TGF-β1在血管瘤不同时期中的表达具有负相关性。结论:Endoglin在增生期血管瘤组织中有异常高表达,且其表达异常在血管瘤的病理发展中有着重要作用。 相似文献
3.
目的探讨乳腺癌患者血清可溶性细胞膜糖蛋白(Endoglin)水平测定的临床意义。方法采用酶联免疫吸附试验(ELISA)检测35例健康女性、70例乳腺癌患者的血清可溶性Endoglin水平,并比较48例乳腺癌患者手术前后血清可溶性Endoglin水平。结果乳腺癌患者血清可溶性Endoglin水平明显高于健康对照者,差异有统计学意义(P0.01);血清可溶性Endoglin水平与患者临床分期相关,与患者年龄、病理类型无关;Ⅳ期乳腺癌患者血清可溶性Endoglin水平明显高于其他各期,差异有统计学意义(P0.01或P0.05),Ⅲ期高于Ⅱ期,差异有统计学意义(P0.01),Ⅱ期高于Ⅰ期,差异有统计学意义(P0.05);乳腺癌患者术后血清可溶性Endoglin水平明显低于术前,差异有统计学意义(P0.01)。结论动态检测可溶性Endoglin水平对乳腺癌的诊断和临床分期具有重要意义。 相似文献
4.
Amol Ramchandra Gadbail Alka Hande Minal Chaudhary Atul Nikam Madhuri Gawande Swati Patil Satyajit Tekade Shailesh Gondivkar 《Journal of oral pathology & medicine》2011,40(3):263-269
J Oral Pathol Med (2011) 40 : 263–269 Background: The purpose of this study was to assess and compare angiogenesis with proliferative activity in Keratocystic odontogenic tumors (KCOT) and dentigerous cysts (DC) by using monoclonal mouse anti‐human antibody against CD105 (endoglin). Material and Methods: Angiogenesis was assessed in 38 KCOT, 27 DCs and 19 Normal Oral Mucosa (NOM) by measuring the Mean Vascular Density (MVD), Total Vascular Area (TVA) and Mean Vascular Area (MVA). Cell proliferation was assessed by obtaining Ki‐67 Labeling Index (Ki‐67LI) in all the groups. Results: Statistically significant difference was observed in MVD, TVA, MVA and Ki‐67 LI between the KCOT, DC and NOM (P = 0.000). The MVD, TVA, MVA and Ki‐67 LI were significantly higher in KCOT than in DC and NOM (P = 0.000). The Ki‐67 LI was significantly higher in NOM than in DC (P = 0.000). MVD (P = 0.032) and TVA (P = 0.038) were significantly higher in NOM than in DC. There was significant positive correlation between Ki‐67 LI and MVD, Ki‐67 and TVA and Ki‐67 and MVA. Conclusion: The result suggests that CD105 (endoglin) is strongly expressed in microvessels of KCOT compared with that in Dentigerous cyst and Normal oral mucosa. Thus, it suggests that angiogenesis may be associated with locally aggressive biological behavior of KCOT. These findings further stress on the hypothesis that the stroma of KCOT could be regarded not just as a structural support of the cyst wall, but as playing a part in the neoplastic behavior of cyst. 相似文献
5.
Takuichi Oikawa Tadatoshi Takayama Shunji Okada Tomohisa Kamo Masahiko Sugitani Michiie Sakamoto 《Journal of Hepato-Biliary-Pancreatic Surgery》2009,16(1):90-93
We present a case of multiple colorectal liver metastases with macroscopic portal vein thrombi. A 55-year-old woman presented
to us with rectosigmoid cancer and presented with two liver metastases. The tumor in the posterior sector was associated with
invasion of first order branches of the portal vein. We performed low anterior resection, hepatic posterior sectorectomy and
partial left anterior sectorectomy. Both the colorectal cancer and liver tumors exhibited histological characteristics of
moderately differentiated adenocarcinoma with a substantial amount of mucin production. The liver metastases were associated
with prominent tumor thrombi in many branches of the portal vein. Stronger staining for endoglin (CD 105) than for Fas ligand
(Fas L) and matrix metalloproteinase (MMP-2) was observed in both the colorectal cancer and metastatic liver tumor cells.
Expression of the vascular endothelial growth factor within the tumor cells was seen in both the colorectal cancer as well
as the metastatic liver tumor cells. Six months after the operation, she was diagnosed to have multiple, more than about 20
liver metastases, and in 9 months after the operation, the patient died. The colorectal cancer with liver metastases associated
with portal vein tumor thrombosis was poor prognosis, found neoplastic microvessel formation. 相似文献
6.
Martins SF Reis RM Rodrigues AM Baltazar F Filho AL 《World journal of clinical oncology》2011,2(6):272-280
Colorectal cancer (CRC) is one of the cancer models and most of the carcinogenic steps are presently well understood. Therefore, successful preventive measures are currently used in medical practice. However, CRC is still an important public health problem as it is the third most common cancer and the fourth most frequent cause of cancer death worldwide. Nowadays, pathologic stage is a unique and well-recognized prognostic indicator, however, more accurate indicators of the biologic behavior of CRC are expected to improve the specificity of medical treatment. Angiogenesis plays an important role in the growth and progression of cancer but its role as a prognostic factor is still controversial. Probably the most important clinical implication of tumor angiogenesis is the development of anti-angiogenic therapy. The goal of this review is to critically evaluate the role of angiogenic markers, assessed by either endoglin-related microvessel density or expression of vascular endothelial growth factor family members in the CRC setting and discuss the role of these angiogenic markers in anti-angiogenic therapies. 相似文献
7.
Wuttipong Tirakotai Sandra Fremann Niels Soerensen Wolfgang Roggendorf Adrian M. Siegel Hans Dieter Mennel Yuan Zhu Helmut Bertalanffy Ulrich Sure 《Child's nervous system》2006,22(7):685-691
Objective According to the hypothesis that paediatric cerebral cavernomas may have different biological activity compared to adult cavernomas, immunohistochemical analysis was used to elucidate the biological nature of paediatric cavernomas.Patients and methods We examined the histological features and the proliferative and angiogenic capacity of the tissue specimens acquired from 28 paediatric patients. Normal paediatric brain tissues obtained from paediatric autopsy cases were used as a control group. The proliferative activity of the endothelium and the neoangiogenetic capacity were investigated by immunohistochemistry for proliferating cell nuclear antigen (PCNA), Ki-67 epitope (MIB-1), Flk-1 receptor, vascular endothelial growth factor (VEGF), hypoxia-inducible factor (HIF)-1 α, and endoglin antibody, respectively. Afterwards, the results of the paediatric lesions were analysed and compared with the correspondent values of previously reported immunohistochemical analysis in adult cavernomas.Results Positive immunostaining of VEGF was detected significantly less in paediatric cavernomas compared to adult cases (p<0.05). In contrast, endoglin, a protein that is upregulated during an increased vascular shear stress, was expressed more often in paediatric cavernomas (p<0.05). Neither the expression of the PCNA nor the expression of the HIF-1α was found significantly different between paediatric and adult cavernomas. However, the positive immunoreaction for MIB-1 occurred more often in the paediatric cases (p<0.05).Conclusions The immunohistochemical study indicates that paediatric cavernomas are dynamic lesions. The VEGF/Flk-1 associated neoangiogenesis may play a minor role for the biology of paediatric cavernomas, while endoglin seems to act more prominently than previously thought, particularly for the biology of paediatric cavernomas. 相似文献
8.
K O'Leary A Shia F Cavicchioli V Haley A Comino M Merlano F Mauri K Walter M Lackner M B Wischnewsky T Crook C Lo Nigro P Schmid 《British journal of cancer》2015,113(6):970-978
Background:
The transforming growth factor-beta (TGF- β) pathway has been implicated in proliferation, migration and invasion of various cancers. Endoglin is a TGF-β accessory receptor that modulates signalling. We identified Endoglin as an epigenetically silenced tumour-suppressor gene in lung cancer by means of a genome-wide screening approach, then sought to characterise its effect on lung cancer progression.Methods:
Methylation microarray and RNA sequencing were carried out on lung cancer cell lines. Epigenetic silencing of Endoglin was confirmed by methylation and expression analyses. An expression vector and a 20-gene expression panel were used to evaluate Endoglin function. Pyrosequencing was carried out on two independent cohorts comprising 112 and 202 NSCLC cases, respectively, and the impact of Endoglin methylation on overall survival (OS) was evaluated.Results:
Methylation in the promoter region resulted in silencing of Endoglin, which could be reactivated by demethylation. Increased invasion coupled with altered EMT marker expression was observed in cell lines with an epithelial-like, but not those with a mesenchymal-like, profile when Endoglin was absent. Methylation was associated with decreased OS in stage I but not in stages II–III disease.Conclusions:
We show that Endoglin is a common target of epigenetic silencing in lung cancer. We reveal a link between Endoglin silencing and EMT progression that might be associated with decreased survival in stage I disease. 相似文献9.
10.
Yu Y Jenkins AJ Nankervis AJ Hanssen KF Scholz H Henriksen T Lorentzen B Clausen T Garg SK Menard MK Hammad SM Scardo JC Stanley JR Dashti A May K Lu K Aston CE Wang JJ Zhang SX Ma JX Lyons TJ 《Diabetologia》2009,52(1):160-168
Aims/hypothesis Elevated anti-angiogenic factors such as soluble fms-like tyrosine kinase 1 (sFlt1), a soluble form of vascular endothelial
growth factor receptor, and endoglin, a co-receptor for TGFβ1, confer high risk of pre-eclampsia in healthy pregnant women.
In this multicentre prospective study, we determined levels of these and related factors in pregnant women with type 1 diabetes,
a condition associated with a fourfold increase in pre-eclampsia.
Methods Maternal serum sFlt1, endoglin, placental growth factor (PlGF) and pigment epithelial derived factor were measured in 151
type 1 diabetic and 24 healthy non-diabetic women at each trimester and at term.
Results Approximately 22% of the diabetic women developed pre-eclampsia, primarily after their third trimester visit. In women with
pre-eclampsia (diabetic pre-eclampsia, n = 26) vs those without hypertensive complications (diabetic normotensive, n = 95), significant changes in angiogenic factors were observed, predominantly in the early third trimester and prior to clinical
manifestation of pre-eclampsia. Serum sFlt1 levels were increased approximately twofold in type 1 diabetic pre-eclampsia vs
type 1 diabetic normotensive women at the third trimester visit (p < 0.05) and the normal rise of PlGF during pregnancy was blunted (p < 0.05). Among type 1 diabetic women, third trimester sFlt1 and PlGF were inversely related (r2 = 42%, p < 0.0001). Endoglin levels were increased significantly in the diabetic group as a whole vs the non-diabetic group (p < 0.0001).
Conclusions/interpretation Higher sFlt1 levels, a blunted PlGF rise and an elevated sFlt1/PlGF ratio are predictive of pre-eclampsia in pregnant women
with type 1 diabetes. Elevated endoglin levels in women with type 1 diabetes may confer a predisposition to pre-eclampsia
and may contribute to the high incidence of pre-eclampsia in this patient group. 相似文献