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31.
32.
Luca Cantarini Donato Rigante Giampaolo Merlini Antonio Vitale Francesco Caso Orso Maria Lucherini Paolo Sfriso Bruno Frediani Leonardo Punzi Mauro Galeazzi Rolando Cimaz Laura Obici 《Seminars in arthritis and rheumatism》2014
Objective
To analyze the clinical manifestations and response to treatment in a cohort of adult patients presenting with recurrent inflammatory attacks and carrying low-penetrance TNFRSF1A variants, as well as to provide data on their long-term follow-up.Methods
We performed a retrospective chart review of 36 patients carrying low-penetrance TNFRSF1A variants. Moreover, 60 genetically negative patients treated for recurrent inflammatory attacks and 13 patients with structural TNFRSF1A mutations were also analyzed. Detailed demographic and clinical data were collected at the time of molecular screening and at each follow-up visit. Treatments and markers of inflammation were also assessed.Results
Individuals with low-penetrance TNFRSF1A variants have a lower family history for inflammatory attacks and present with a later disease onset compared with patients with structural mutations, but do not differ, in this respect, with genetically negative individuals. Moreover, low-penetrance variants are less frequently associated with a chronic disease course, with clinical manifestations such as abdominal pain and myalgia, and with amyloidosis. A distinctive clinical feature is a higher rate of pericarditis. Interestingly, mutation-negative patients were found to present with a significant history of recurrent pharyngitis during childhood. Patients with low-penetrance variants are mostly managed with short courses of steroids or non-steroidal anti-inflammatory drugs on attacks. Although the need for a biological treatment is significantly lower compared with patients with structural mutations, still approximately 20% of individuals with recurrent inflammatory attacks carrying low-penetrance variants ultimately require these therapies.Conclusions
Our study confirms that low-penetrance TNFRSF1A variants can be associated with an autoinflammatory phenotype. Although a chronic disease course is rarely observed, some patients ultimately benefit from a biological treatment. 相似文献33.
Daniela Caldirola Massimiliano Grassi Alice Riva Silvia Daccò Domenico De Berardis Barbara Dal Santo Giampaolo Perna 《Comprehensive psychiatry》2014
This study aimed to investigate 1) the relationship between subjective perception of quality of life (QoL) and clinician-rated levels of psychosocial functioning and 2) the relationship of these indicators with neuropsychological performances, in a sample of 117 subjects with mood and anxiety disorders hospitalized for a 4-week psychiatric rehabilitation program. At the beginning of the hospitalization, QoL and clinician-rated functioning were respectively measured by the World Health Organization Quality of Life Assessment-Brief Form (WHOQOL-BREF) and the Global Assessment of Functioning (GAF) scale, and subjects were administered a neuropsychological battery evaluating verbal and visual memory, working memory, attention, visual-constructive ability, language fluency and comprehension. We did not find any association between WHOQOL-BREF and GAF scores and between cognitive impairment and lower QoL or clinician-rated functioning. Our results suggest that 1) the individuals' condition encompasses different dimensions that are not fully captured by using only clinician-rated or self-administered evaluations; 2) the GAF scale seems unable to indicate the cognitive impairments of our subjects and the WHOQOL-BREF does not appear to be influenced by these deficits. Overall, our findings suggest the need of simultaneously use of multiple assessment tools, including objective evaluations of functioning and different measures of QoL, in order to obtain a more complete clinical picture of the patients. This may allow to identify more specific targets of therapeutic interventions and more reliable measures of outcome. 相似文献
34.
Antonelli A Ferrari SM Frascerra S Ruffilli I Pupilli C Bernini G Sellari-Franceschini S Gelmini S Ferrannini E Fallahi P 《The Journal of endocrinology》2012,213(2):183-191
No data are present in the literature about the effect of cytokines on the prototype β chemokine (C-C motif) ligand 2 (CCL2) or of peroxisome proliferator-activated receptor α (PPARα (PPARA)) activation on CCL2 and CXCL10 chemokines secretion in fibroblasts or preadipocytes in Graves' ophthalmopathy (GO). We have tested the effect of interferon γ (IFNγ (IFNG)) and tumor necrosis factor α (TNFα) on CCL2, and for comparison on the prototype α chemokine (C-X-C motif) ligand 10 (CXCL10), and the possible modulatory role of PPARα activation on secretion of these chemokines in normal and GO fibroblasts or preadipocytes in primary cell cultures. This study shows that IFNγ alone, or in combination with TNFα, stimulates the secretion of CCL2 in primary orbital fibroblasts or preadipocytes from patients with GO at levels similar to those observed in controls. IFNγ and TNFα also stimulated CXCL10 chemokine secretion as expected. The presence of PPARα and PPARγ (PPARG) in primary fibroblasts or preadipocytes of patients with GO has been confirmed. PPARα activators were able to inhibit the secretion of CXCL10 and CCL2, while PPARγ activators were confirmed to be able to inhibit CXCL10 but had no effect on CCL2. PPARα activators were stronger inhibitors of chemokine secretions than PPARγ agonists. In conclusion, CCL2 and CXCL10 are modulated by IFNγ and TNFα in GO. PPARα activators inhibit the secretion of the main prototype α (CXCL10) and β (CCL2) chemokines in GO fibroblasts or preadipocytes, suggesting that PPARα may be involved in the modulation of the immune response in GO. 相似文献
35.
Altmann EG Cristadoro G Esposti MD 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(29):11582-11587
The complexity of human interactions with social and natural phenomena is mirrored in the way we describe our experiences through natural language. In order to retain and convey such a high dimensional information, the statistical properties of our linguistic output has to be highly correlated in time. An example are the robust observations, still largely not understood, of correlations on arbitrary long scales in literary texts. In this paper we explain how long-range correlations flow from highly structured linguistic levels down to the building blocks of a text (words, letters, etc..). By combining calculations and data analysis we show that correlations take form of a bursty sequence of events once we approach the semantically relevant topics of the text. The mechanisms we identify are fairly general and can be equally applied to other hierarchical settings. 相似文献
36.
Augusto D'Onofrio Stefano Salizzoni Marco Agrifoglio Linda Cota Giampaolo Luzi Paolo M. Tartara Giovanni D. Cresce Marco Aiello Carlo Savini Mauro Cassese Alfredo Cerillo Giuseppe Punta Micaela Cioni Davide Gabbieri Chiara Zanchettin Andrea Agostinelli Enzo Mazzaro Omar Di Gregorio Giuseppe Gatti Giuseppe Faggian Claudia Filippini Mauro Rinaldi Gino Gerosa 《The Annals of thoracic surgery》2013
37.
Talamo G Rakszawski KL Rybka WB Dolloff NG Malysz J Berno T Zangari M 《European journal of haematology》2012,89(2):145-150
High‐dose melphalan (HD‐Mel) is considered the current standard of care among the preparative regimens used in autologous peripheral blood stem cell transplantation (SCT) for multiple myeloma (MM), but optimal time and schedule of administration is not defined. We retrospectively analyzed outcomes and toxicities of HD‐Mel administered on day ‐2 vs. day ‐1 before autologous stem cells infusion. A total of 138 consecutive MM patients treated at Penn State Hershey Cancer Institute between 2007 and 2010 were included in this study. No difference in time to hematopoietic recovery, common SCT‐related toxicities, and clinical outcomes was seen between patients who received HD‐Mel on day ‐2 (group A, n = 47), and those who received it on day ‐1 (group B, n = 91). Prompt and full hematopoietic recovery occurred even when stem cells were infused between 8 and 24 h after completion of chemotherapy. In the absence of prospective and randomized data, we conclude that a single I.V. infusion of HD‐Mel on day ‐1 is a safe and effective practice, and the so‐called ‘day of rest’ before the transplant appears not to be necessary. 相似文献
38.
Palladini G Russo P Foli A Milani P Lavatelli F Obici L Nuvolone M Brugnatelli S Invernizzi R Merlini G 《Annals of hematology》2012,91(1):89-92
The increasing number of effective agents allows rescue therapy of patients with light-chain (AL) amyloidosis refractory to
≥2 previous treatments. Lenalidomide is effective in this disease and its toxicity profile encourages its use in salvage regimens.
All the patients with AL amyloidosis refractory to both melphalan and bortezomib referred to our center between July 2007
and July 2009 were treated with the combination of lenalidomide and dexamethasone. Twenty-four consecutive patients were enrolled.
Seventy-nine percent were also refractory to thalidomide. Two patients died before evaluation of response, and 50% experienced
severe adverse events. Survival was significantly shorter in subjects with troponin I >0.1 ng/mL and in patients diagnosed
<18 months before treatment initiation. Hematologic response was observed in 41% of patients and prolonged survival (median
10 months vs. not reached, P = 0.005) independently from troponin I concentration and from pre-treatment disease duration. Salvage therapy beyond second
line of treatment can improve survival in AL amyloidosis and lenalidomide plus dexamethasone is a valuable option in this
setting. 相似文献
39.
The impact of overt hepatic encephalopathy on health-related quality of life is well defined, but it remains to be demonstrated how much the presence of minimal hepatic encephalopathy (MHE) might impair patients' perceived health status. MHE reduces cognitive abilities, with specific impairment in manual abilities, which can lead to a depressed mood that impairs perceived health status. Therefore, all subjects with cirrhosis should be systematically screened for MHE by validated tools. Early detection and treatment is mandatory to improve the quality of life of patients with advanced cirrhosis, their social isolation, and their daily lives. 相似文献
40.
Rocco A. Montone Leonardo Cataneo Silvia Minelli Giampaolo Niccoli 《Cardiovascular Revascularization Medicine》2012,13(6):357-359
Stent thrombosis (ST) is the most dramatic complication of coronary stenting. Mechanisms of ST are multiple, including procedural and patient-related factors. A considerable burden of metal inside the coronary has been associated with ST as suggested by the higher rate of ST in case of multiple overlapping or complex two stents procedure in bifurcation lesions. However, occasional stent loss and failure to retrieve it may be a substrate of ST, especially if multiple layers of stent struts are incompletely crushed. Here, we describe a case of very late ST on a partially crushed stent previously lost inside the coronary circulation, using optical coherence tomography (OCT) for guidance during the procedure. 相似文献