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41.
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Manetti M Allanore Y Saad M Fatini C Cohignac V Guiducci S Romano E Airó P Caramaschi P Tinazzi I Riccieri V Della Rossa A Abbate R Caporali R Cuomo G Valesini G Dieudé P Hachulla E Cracowski JL Tiev K Letenneur L Amouyel P Lambert JC Chiocchia G Martinez M Ibba-Manneschi L Matucci-Cerinic M 《Annals of the rheumatic diseases》2012,71(6):1034-1041
43.
Koumakis E Giraud M Dieudé P Cohignac V Cuomo G Airò P Hachulla E Matucci-Cerinic M Diot E Caramaschi P Mouthon L Riccieri V Cracowski JL Tiev KP Francès C Amoura Z Sibilia J Cosnes A Carpentier P Valentini G Manetti M Guiducci S Meyer O Kahan A Boileau C Chiocchia G Allanore Y 《Arthritis and rheumatism》2012,64(8):2746-2752
44.
Tiacci E Schiavoni G Forconi F Santi A Trentin L Ambrosetti A Cecchini D Sozzi E Francia di Celle P Di Bello C Pulsoni A Foà R Inghirami G Falini B 《Blood》2012,119(1):192-195
Hairy cell leukemia (HCL) is a distinct clinicopathologic entity that responds well to purine analogs but is sometimes difficult to differentiate from HCL-like disorders (e.g., splenic marginal zone lymphoma and HCL variant). We recently identified the BRAF-V600E mutation as the disease-defining genetic event in HCL. In this study, we describe a new, simple, and inexpensive test for genetics-based diagnosis of HCL in whole-blood samples that detects BRAF-V600E through a sensitive allele-specific PCR qualitative assay followed by agarose-gel electrophoresis. This approach detected BRAF-V600E in all 123 leukemic HCL samples investigated containing as few as 0.1% leukemic cells. BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. Conversely, 115 non-HCL chronic B-cell neoplasms, including 79 HCL-like disorders, were invariably negative for BRAF-V600E. This molecular assay is a powerful tool for improving the diagnostic accuracy in HCL. 相似文献
45.
Guidetti A Carlo-Stella C Locatelli SL Malorni W Pierdominici M Barbati C Mortarini R Devizzi L Matteucci P Marchianò A Lanocita R Farina L Dodero A Tarella C Di Nicola M Corradini P Anichini A Gianni AM 《British journal of haematology》2012,158(1):108-119
The safety and activity of the multikinase inhibitor sorafenib were investigated in patients with relapsed or refractory lymphoproliferative disorders who received sorafenib (400 mg) twice daily until disease progression or appearance of significant clinical toxicity. The primary endpoint was overall response rate (ORR). Biomarkers of sorafenib activity were analysed at baseline and during treatment. Thirty patients (median age, 61 years; range, 18-74) received a median of 4 months of therapy. Grade 3-4 toxicities included hand/foot skin reactions (20%), infections (12%), neutropenia (20%) and thrombocytopenia (14%). Two patients achieved complete remission (CR), and two achieved partial remission (PR) for an ORR of 13%. Stable disease (SD) and progressive disease (PD) was observed in 15 (50%) and 11 patients (37%), respectively. The median overall survival (OS) for all patients was 16 months. For patients who achieved CR, PR and SD, the median time to progression and OS was 5 and 24 months, respectively. Compared with patients with PD, responsive patients had significantly higher baseline levels of extracellular signal-regulated kinase phosphorylation and autophagy and presented a significant reduction of these parameters after 1 month of therapy. Sorafenib was well tolerated and had a clinical activity that warrants development of combination regimens. 相似文献
46.
Mugurel Constantin Rusu Andreea Cristiana Didilescu Ruxandra Stănescu Florinel Pop Valentina Mariana Mănoiu Adelina Maria Jianu Marek Vâlcu 《Anatomical record (Hoboken, N.J. : 2007)》2013,296(2):350-363
This study aimed to evaluate by immunohistochemistry and transmission electron microscopy (TEM) the morphological features of the oral mucosa endothelial tip cells (ETCs) and to determine the immune and ultrastructural patterns of the stromal nonimmune cells which could influence healing processes. Immune labeling was performed on bioptic samples obtained from six edentulous patients undergoing surgery for dental implants placement; three normal samples were collected from patients prior to the extraction of the third mandibular molar. The antibodies were tested for CD34, CD117(c‐kit), platelet derived growth factor receptor‐alpha (PDGFR‐α), Mast Cell Tryptase, CD44, vimentin, CD45, CD105, alpha‐smooth muscle actin, FGF2, Ki67. In light microscopy, while stromal cells (StrCs) of the reparatory and normal oral mucosa, with a fibroblastic appearance, were found positive for a CD34/CD44/CD45/CD105/PDGFR‐α/vimentin immune phenotype, the CD117/c‐kit labeling led to a positive stromal reaction only in the reparatory mucosa. In TEM, non‐immune StrCs presenting particular ultrastructural features were identified as circulating fibrocytes (CFCs). Within the lamina propria CFCs were in close contact with ETCs. Long processes of the ETCs were moniliform, and hook‐like collaterals were arising from the dilated segments, suggestive for a different stage migration. Maintenance and healing of oral mucosa are so supported by extensive processes of angiogenesis, guided by ETCs that, in turn, are influenced by the CFCs that populate the stromal compartment both in normal and reparatory states. Therefore, CFCs could be targeted by specific therapies, with pro‐ or anti‐angiogenic purposes. Anat Rec, 2013. © 2012 Wiley Periodicals, Inc. 相似文献
47.
Adriana Sampaio Sylvain Bouix Nuno Sousa Cristiana Vasconcelos Montse Férnandez Martha E. Shenton Óscar F. Gonçalves 《Brain structure & function》2013,218(3):711-720
Brain abnormalities in Williams syndrome (WS) have been consistently reported, despite few studies have devoted attention to connectivity between different brain regions in WS. In this study, we evaluated corpus callosum (CC) morphometry: bending angle, length, thickness and curvature of CC using a new shape analysis method in a group of 17 individuals with WS matched with a typically developing group. We used this multimethod approach because we hypothesized that neurodevelopmental abnormalities might result in both volume changes and structure deformation. Overall, we found reduced absolute CC cross-sectional area and volume in WS (mean CC and subsections). In parallel, we observed group differences regarding CC shape and thickness. Specifically, CC of WS is morphologically different, characterized by a larger bending angle and being more curved in the posterior part. Moreover, although CC in WS is shorter, a larger relative thickness of CC was found in all callosal sections. Finally, groups differed regarding the association between CC measures, age, white matter volume and cognitive performance. In conclusions, abnormal patterns of CC morphology and shape may be implicated in WS cognitive and behavioural phenotype. 相似文献
48.
S. Guiducci S. Bellando Randone C. Bruni G. Carnesecchi A. Maresta F. Iannone G. Lapadula M. Matucci Cerinic 《Clinical rheumatology》2012,31(12):1723-1725
Bosentan, a dual endothelin receptor antagonist, may reduce blood pressure by blocking the vasoconstrictor effect of endothelin-1. In systemic sclerosis (SSc) nailfold videocapillaroscopy (NVC); allows diagnostic and follow-up of microvascular damage. Distinct NVC patterns have been identified for the evaluation of severity of SSc microvascular damage. The objective of this study is to evaluate the modification of the microvasculature under Bosentan therapy in SSc patients with pulmonary arterial hypertension (PAH). Nine patients with PAH related to SSc in New York Heart Association classes III?CIV were treated with Bosentan 125?mg twice a day. NVC optical probe videocapillaroscopy equipped with 100× and 200× contact lenses and connected to image analyse software was performed before and after 12?months of Bosentan therapy to evaluate the modification of microvasculature. Nine PAH SSc patients treated with Iloprost were used as controls. Before Bosentan therapy, seven patients showed at NVC severe loss of capillaries with large avascular areas and vascular architectural disorganisation which are typically ??late?? SSc pattern. After 12?months of Bosentan, NVC pattern changed in seven patients from ??late?? into ??active?? SSc pattern. The disappearance of avascular areas and capillary haemorrhages was the most striking result. Two patients had an ??active?? SSc pattern, not modified by Bosentan treatment. These data show that Bosentan may improve NVC pattern in SSC and the presence of new capillaries suggests that it may favour angiogenesis. Bosentan may improve and stabilise the microvasculature in long-term treatment modulating the structural modifications detected by NVC. 相似文献
49.
50.
Almerighi C Bergamini A Lionetti R Sinistro A Lenci I Tariciotti L Tisone G Angelico M 《Digestive and liver disease》2012,44(1):67-73