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排序方式: 共有1096条查询结果,搜索用时 46 毫秒
21.
Emanuele Miraglia del Giudice Silverio Perrotta Bruno Nobili Luciano Pinto Luisa Cutillo Achille Iolascon 《British journal of haematology》1993,85(3):553-557
Summary. A kindred with hereditary spherocytosis and β-thalassaemia trait was identified. Detailed studies of the red cell membrane proteins on polyacrylamide gels with sodium dodecyl sulphate (SDS-PAGE) demonstrated the presence of band 3 (anion transporter) deficiency in all HS subjects (20–25% reduction) whereas spectrin content was in the normal range. The molecular defect of β thalassaemia in this kindred was due to a β° codon 39 (C-T) mutation, as assessed by β globin gene amplification and ASO-probe hybridization. Seven subjects of this family were studied: two were normal, two had HS alone, two co-inherited HS and β-thalassaemia trait, and one had β-thalassaemia trait only. The two subjects with HS alone had a typical clinical form of spherocytosis with anaemia, reticulocytosis and increased red cell osmotic fragility. The two with both HS and β-thalassaemia trait were not anaemic and showed a small, well-compensated haemoIysis. Hence the finding of red cells with abnormalities of both HS and β-thalassaemia indicates that β-thalassaemic trait 'silences' HS caused by band 3 deficiency. 相似文献
22.
Harry Sokol Sophie Georgin-Lavialle Danielle Canioni Stéphane Barete Gandhi Damaj Erinn Soucie Julie Bruneau Marie-Olivia Chandesris Felipe Suarez Jean-Marie Launay Achille Aouba Catherine Grandpeix-Guyodo Fanny Lanternier Bernard Grosbois Christian de Gennes Pascal Cathébras Olivier Fain Nadia Hoyeau-Idrissi Patrice Dubreuil Olivier Lortholary Laurent Beaugerie Brigitte Ranque Olivier Hermine 《The Journal of allergy and clinical immunology》2013
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Saadoun D Suarez F Lefrere F Valensi F Mariette X Aouba A Besson C Varet B Troussard X Cacoub P Hermine O 《Blood》2005,105(1):74-76
Hepatitis C virus (HCV) has been associated with the development of B-cell non-Hodgkin lymphomas. We recently reported the regression of splenic lymphoma with villous lymphocytes (SLVL) in patients with HCV after antiviral treatment, demonstrating a direct role of HCV in lymphomagenesis. This study expands our previous results in 18 patients with chronic HCV and SLVL. Mixed cryoglobulinemia (MC) was present in all cases and was symptomatic in 13 (72%). All patients were treated with interferon alone or in association with ribavirin. Hematologic and virologic responses were correlated. Fourteen (78%) patients achieved a sustained complete hematologic response after clearance of HCV RNA. Two patients had a virologic partial response and achieved a complete hematologic response. Two virologic nonresponders achieved partial hematologic response. Regardless of the response, monoclonal immunoglobulin gene rearrangement persisted after treatment. This study underscores the role of HCV in the lymphomagenesis and the benefit of antiviral treatment for patients presenting with HCV-driven lymphoproliferations. 相似文献
25.
Paciocco G Uslenghi E Bianchi A Mazzarella G Roviaro GC Vecchi G Harari S 《Chest》2004,125(1):135-142
BACKGROUND: High-resolution CT (HRCT) scanning plays an important role in the diagnosis of diffuse cystic lung diseases (DCLDs). However, its role in the clinical evaluation of patients affected by DCLD has not yet been well-clarified. At present, pulmonary function tests are the only methods available for the evaluation of lung impairment due to these diseases, but their sensitivity and reliability are still limited. PURPOSE: The aim of this study was to correlate the quantitative score of cystic-aerial lesions obtained by a HRCT density mask (DM) software with pulmonary function data in DCLDs. METHODS: Spirometry, lung volumes, diffusion capacity, arterial blood gas (ABG) analysis, 6-min walking test (6-MWT), and HRCT with DM quantitative evaluation were performed in a cohort of 25 patients (lymphangioleiomyomatosis [LAM], 13 patients; Langerhans cells histiocytosis [LCH], 12 patients). Linear regression was used for the statistical analysis. The sum and mean of the air-trapping percentages at three different levels of DM study (ie, aortic arch, left lower lobe bronchus origin, and 2 cm from the diaphragmatic muscle), and various functional parameters and exercise performance values were matched for the analysis. RESULTS: An obstructive pattern was present in 13 patients (52%; LCH group, 8 patients; LAM group, 5 patients). A predominant restrictive pattern was detected only in three patients (12%; LCH group, two patients; LAM group, one patient). Nine patients (36%) walked < 350 m, and 14 of 23 patients (61%) had a significant decrease in arterial oxygen saturation during exercise (> 4 U). The results of DM quantitative study (sum and mean) significantly correlated with FVC (r = - 0.56; p < 0.001), FEV(1)/vital capacity (r = - 0.94; p < 0.002), midexpiratory phase of forced expiratory flow (r = - 0.84; p < 0.05), FEV(1) (r = - 0.82; p < 0.05), and diffusing capacity of the lung for carbon monoxide (r = - 0.82; p < 0.05), bronchial airway resistance (r = 0.79; p < 0.05), and distance walked on the 6-MWT (r = - 0.53; p < 0.05). No significant correlation was found with the results of ABG analysis. CONCLUSIONS: In DCLDs, HRCT scans with quantitative assessment performed by a DM software showed a very good correlation with functional parameters. Therefore, DM could be considered, in combination with a complete functional assessment, in the initial evaluation of patients affected by DCLDs. However, further studies are needed to assess its usefulness in the follow-up of these patients. 相似文献
26.
Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: evidence for a differentiated splenic conditioning role 总被引:1,自引:0,他引:1
Diego Ingrosso Stefania D'Angelo Silverio Perrotta Giovanna d'Urzo Achille Iolascon Alessandra F. Perna Patrizia Galletti Vincenzo Zappia Emanuele Miraglia del Giudice 《British journal of haematology》1996,93(1):38-41
Based on quantitative analysis of red cell membrane proteins, hereditary spherocytosis (HS) can be divided into two main groups including isolated or ankyrin combined spectrin deficiency and band 3 reduction. Protein methyl esterification catalysed by protein carboxyl methyltransferase (PCMT type II; EC 2.1.1.77) is a post-biosynthetic modification which is involved in the metabolism of damaged membrane proteins. We utilized the evaluation of erythrocyte membrane protein methyl esterification as a marker of cytoskeletal disarray in seven HS subjects with spectrin reduction and in seven patients with HS due to band 3 deficiency. Our results support the notion that band 3 deficient erythrocytes are not affected by an extensive cytoskeletal derangement. On the contrary, we found a remarkable increase of membrane methylation in the unsplenectomized, spectrin-deficient, HS patients, suggesting a striking membrane skeleton disarray. This phenomenon was not observed in the spectrin-deficient red cells of splenectomized patients. Therefore in spectrin deficient erythrocytes the induction of cytoskeletal damage, specifically recognized by PCMT type II, could be one of the splenic steps producing conditioned spherocytes. 相似文献
27.
Devender Bhalla Achille Edem Tchalla Benoît Marin Edgard Brice Ngoungou Chong Tin Tan Pierre‐Marie Preux 《Epilepsia》2014,55(9):1317-1321
Is epilepsy truly an “African ailment”? We aimed to determine this, since international health agencies often refer to epilepsy as an African disease and the scientific literature has spoken the same tone. Various published materials, mainly reports, articles, were used to gather Asian and African evidence on various aspects of epilepsy and many of its risk and associated factors. Our results suggest that in no way can epilepsy be considered as an African ailment and such characterization is most likely based on popular beliefs rather than scientific evidence. In comparison to Africa, Asia has a 5.0% greater burden from all diseases, and is 17.0% more affected from neuropsychiatric disorders (that include epilepsy). Given that more countries in Asia are transitioning, there may be large demographic and lifestyle changes in the near future. However these changes are nowhere close to those expected in Africa. Moreover, 23 million Asians have epilepsy in comparison to 3.3 million Africans and 1.2 million sub‐Saharan Africans. In comparison to Africa, Asia has more untreated patients, 55.0% more additional epilepsy cases every year, because of its larger population, with greater treatment cost and possibly higher premature mortality. Of several associated factors discussed herein, many have more importance for Asia than Africa. The current state of epilepsy in Asia is far less than ideal and there is an urgent need to recognize and accept the importance of epilepsy in Asia. In no way can epilepsy be considered as an African ailment. This is most likely based on popular beliefs rather than scientific evidence. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here . 相似文献
28.
29.
Tarsitano A Agosti R Marchetti C 《Oral surgery, oral medicine, oral pathology and oral radiology》2012,113(4):e6-e11
The calcifiyng epithelial odontogenic tumor (CEOT) and the squamous odontogenic tumor (SOT) are rare and benign odontogenic tumors that affect the jaw. This article describes the diagnostic and surgical management of a multifocal CEOT in the mandible and maxilla associated with an SOT. This case is the first to demonstrate that there may be a multifocal variant of CEOT associated with an SOT that has not been previously recognized. Clinical, radiographic, and histologic signs are reported. Treatment modality, oral rehabilitation, and long-term follow-up are shown. Because of the rarity of this kind of simultaneous pathologic association, it is of paramount, and indeed obvious, importance to prospective reviewers that published reports are produced meticulously, including all clinically, radiographically, and histologically relevant data. 相似文献
30.
Hanson C Weaver A Zoerhoff KL Kabore A Linehan M Doherty A Engels D Savioli L Ottesen EA 《The American journal of tropical medicine and hygiene》2012,86(3):508-513
In 2006 the U.S. Agency for International Development (USAID) established the Neglected Tropical Disease (NTD) Control Program to support national governments in developing successful, cost-efficient NTD programs that integrate disease-specific programs into coordinated national initiatives, in accord with the World Health Organization recommendations. A 3-stage "roll-out package" has been developed for effectively integrating and scaling up such programs to full-national scale. Stage-1 lays the groundwork-identifying NTD leadership within the Ministry of Health, conducting a national Situation Analysis, formulating a multiyear Plan of Action, and undertaking a funding gap analysis. Stage-2 focuses on scaling up the integrated NTD program-convening national stakeholder meetings, developing annual work plans, carrying out disease mapping, and establishing monitoring and evaluation activities. Stage-3 aims at ensuring effective management-identifying clear roles and responsibilities for partners, and creating a central coordinating mechanism. Assessment and reassessment of these complex NTD programs that target literally billions of people are essential to establish "best practice" strategies for long-term public health success. 相似文献