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91.
Hiroko Morisaki Gretchen MacCarrick Mark Lindsay David Liang Sarju G. Mehta Jennifer Hague Judith Verhagen Ingrid van de Laar Marja Wessels Yvonne Detisch Mieke van Haelst Annette Baas Klaske Lichtenbelt Kees Braun Denise van der Linde Jolien Roos‐Hesselink George McGillivray Josephina Meester Isabelle Maystadt Paul Coucke Elie El‐Khoury Sandhya Parkash Birgitte Diness Lotte Risom Ingrid Scurr Yvonne Hilhorst‐Hofstee Takayuki Morisaki Julie Richer Julie Désir Marlies Kempers Andrea L. Rideout Gabrielle Horne Chris Bennett Elisa Rahikkala Geert Vandeweyer Maaike Alaerts Aline Verstraeten Hal Dietz Lut Van Laer Bart Loeys 《Human mutation》2018,39(5):621-634
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor‐β (TGF‐β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF‐β signaling. More recently, TGF‐β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF‐β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. This emphasizes the role of disturbed TGF‐β signaling in LDS pathogenesis. Since most literature so far has focused on TGFBR1/2, we provide a comprehensive review on the known and some novel TGFB2/3 and SMAD2/3 mutations. For TGFB2 and SMAD3, the clinical manifestations, both of the patients previously described in the literature and our newly reported patients, are summarized in detail. This clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified. All mutations described here are present in the corresponding Leiden Open Variant Database. 相似文献
92.
Transcatheter arterial chemoembolization with or without radiofrequency ablation in the management of patients with advanced hepatic malignancy 总被引:24,自引:0,他引:24
Bloomston M Binitie O Fraiji E Murr M Zervos E Goldin S Kudryk B Zwiebel B Black T Fargher S Rosemurgy AS 《The American surgeon》2002,68(9):827-831
Transcatheter arterial chemoembolization (TACE) is efficacious against hepatic malignancies by rendering tumors ischemic while delivering high-dose chemotherapy. The added benefit of radiofrequency ablation (RFA) has not been determined. We sought to review our experience with TACE with or without RFA in the treatment of hepatocellular carcinoma and colorectal liver metastases in patients not amenable to resection. TACE and RFA were undertaken in 13 patients with hepatocellular carcinoma (n = 7) or colorectal liver metastases (n = 6). Concurrently 24 patients underwent TACE alone for hepatocellular carcinoma (n = 15) or colorectal liver metastases (n = 9). Patients undergoing TACE with or without RFA were similar in age, gender, and diagnosis. Overall follow-up was 9.1 months +/- 7.1. One-year survival was greater in patients undergoing TACE with RFA than with TACE alone (100% vs 67%, P = 0.04). Mean survival was longer after TACE with RFA compared with TACE alone (25.3 months +/- 15.9 vs 11.4 months +/- 7.3, P < 0.05). No patients suffered significant complications. The addition of RFA to TACE improves survival in patients with unresectable primary or metastatic hepatic malignancies. RFA with TACE should be in the armamentarium of surgeons caring for patients with malignant liver lesions. 相似文献
93.
Gaëtan Des Guetz Claire Alapetite Philippe Anract Gonzague de Pinieux Caroline Elie Pierre Pouillart 《European journal of orthopaedic surgery & traumatology : orthopedie traumatologie》2008,18(6):455-459
Background
The introduction of a combined-modality approach, which added chemotherapy to local therapy (surgery and radiotherapy), has been controversial. We present our experience of the efficacy of neoadjuvant chemotherapy in patients with high-risk sarcomas and evaluate the benefit of intra-arterial (IA) chemotherapy.Patients and methods
Forty patients with intermediate to high-grade soft tissue sarcomas (STS) were treated with neoadjuvant chemotherapy from 1994 to 2001 at the Institut Curie. Thirty-seven patients had localized tumours. Neoadjuvant intravenous (IV) chemotherapy consisted of 4–6 cycles of treatment (mainly CYVADIC, MAID). Sixteen patients (40%) received 2 cycles of IA chemotherapy with a combination of adriamycin and cisplatin. Radiotherapy was delivered in an adjuvant setting.Results
All patients underwent limb-sparing surgical resection after neoadjuvant therapy and pathologic assessment of tumour necrosis was performed on the resected specimens. Two groups of tumours were analysed: 1–95% (28 cases), and 95–100% (10 cases) of pathological necrosis, with a survival benefit in the group with more than 95% necrosis (p = 0.07). IA chemotherapy was superior to IV chemotherapy in terms of the necrosis rate (p = 0.045). With a median follow-up of 51 months, the 2-year overall survival rate was 90% for localized tumours.Conclusion
Neoadjuvant chemotherapy can be considered to be effective in the treatment of STS. This study demonstrates the benefit of neoadjuvant therapy for patients with a high necrosis rate (very clear tendency) and the contribution of IA chemotherapy to the response rate, but with no survival advantage. 相似文献94.
A two-stage hepatectomy procedure combined with portal vein embolization to achieve curative resection for initially unresectable multiple and bilobar colorectal liver metastases 总被引:15,自引:0,他引:15 下载免费PDF全文
Jaeck D Oussoultzoglou E Rosso E Greget M Weber JC Bachellier P 《Annals of surgery》2004,240(6):1037-1051
OBJECTIVE: To assess outcome after a 2-stage hepatectomy procedure (TSHP) combined with portal vein embolization (PVE) in the treatment of patients with unresectable multiple and bilobar colorectal liver metastases (MBCLM). BACKGROUND: Patients with MBCLM are often considered for palliative chemotherapy only, due to too small future remnant liver (FRL). Recently, right hepatectomy with simultaneous left liver wedge resections after previous right PVE has been reported in a curative intent. However, the growth of metastatic nodules in FRL after PVE can be more rapid than that of the nontumoral remnant hepatic parenchyma. Therefore, metastases located in the FRL should be ideally resected before PVE. Then, a right (or extended right) hepatectomy can be safely performed during a second-stage hepatectomy. Therefore, we analyzed our experience with the use of TSHP combined with PVE in treatment of MBCLM. PATIENTS AND METHODS: Between December 1996 and April 2003, 33 patients with unresectable MBCLM were selected for a TSHP. A right or an extended right hepatectomy was planned after treatment of left FRL metastases to achieve a curative resection. The first-stage hepatectomy consisted in a clearance of the left hemiliver by resection or radiofrequency destruction of metastases of the left FRL. Subsequently, a right PVE was performed to induce atrophy of the right hemiliver and hypertrophy of the left hemiliver. Finally, a second-stage hepatectomy was planned to resect the right liver metastases. RESULTS: There was no operative mortality. Post-PVE morbidity was 18.1%; postoperative morbidity was 15.1% and 56.0% after first- and second-stage hepatectomy, respectively. TSHP could be achieved in 25 of 33 patients (75.7%). The 1- and 3-year survival rates were 70.0% and 54.4%, respectively, in the 25 patients in whom the TSHP was completed. CONCLUSIONS: In selected patients with initially unresectable MBCLM, a TSHP combined with PVE can be achieved safely with long-term survival similar to that observed in patients with initially resectable liver metastases. 相似文献
95.
Alain Herment PhD Nadjia Kachenoura PhD Muriel Lefort BS Mourad Bensalah MD Anas Dogui MS Frédérique Frouin PhD Elie Mousseaux MD PhD Alain De Cesare PhD 《Journal of magnetic resonance imaging : JMRI》2010,31(4):881-888
Purpose:
To assess if segmentation of the aorta can be accurately achieved using the modulus image of phase contrast (PC) magnetic resonance (MR) acquisitions.Materials and Methods:
PC image sequences containing both the ascending and descending aorta of 52 subjects were acquired using three different MR scanners. An automated segmentation technique, based on a 2D+t deformable surface that takes into account the features of PC aortic images, such as flow‐related effects, was developed. The study was designed to: 1) assess the variability of our approach and its robustness to the type of MR scanner, and 2) determine its sensitivity to aortic dilation and its accuracy against an expert manual tracing.Results:
Interobserver variability in the lumen area was 0.59 ± 0.92% for the automated approach versus 10.09 ± 8.29% for manual segmentation. The mean Dice overlap measure was 0.945 ± 0.014. The method was robust to the aortic size and highly correlated (r = 0.99) with the manual tracing in terms of aortic area and diameter.Conclusion:
A fast and robust automated segmentation of the aortic lumen was developed and successfully tested on images provided by various MR scanners and acquired on healthy volunteers as well as on patients with a dilated aorta. J. Magn. Reson. Imaging 2010;31:881–888. ©2010 Wiley‐Liss, Inc. 相似文献96.
97.
Elie E. Daou 《Saudi Dental Journal》2010,22(4):153-160
This article reviews the current trends in materials used for complete denture impression. Peer-reviewed articles, published in English and in French between 1954 and 2007, were identified through a MEDLINE search (Pubmed and Elsevier) and a hand search of relevant textbooks and annual publications. Emphasis was made on the characteristics of the elastomers, their manipulation, the different techniques used, and the quality of the impression obtained. The combination of excellent physical properties, handling characteristics, and unlimited dimensional stability assures the popularity of these impression materials. 相似文献
98.
Pierre-Alexandre Just Aurélie Cazes Heike Goebel Elie Mousseaux Jean-No?l Fabiani Patrick Bruneval 《Cardiovascular pathology》2009,18(6):375-378
BackgroundA 59-year-old male had a latent epicardial mass discovered at cardiovascular imaging during the assessment of an aortic murmur.ResultsThe resected mass surrounded the left anterior descending coronary artery. It was a well-limited pericoronary cellular lesion. It was made of a mixture of polytypic plasma cells, lymphocytes with lymphoid follicles, hyaline vascular hyperplasia, and focal eosinophils. No immunoglobulin and TCR-γ gene rearrangements were detected. In this immunocompetent patient, HHV-8 was negative.ConclusionThe pattern was consistent with a pericoronary localized Castleman's disease of composite histologic subtype. 相似文献
99.
100.