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Marco Cattalini Martina Soliani Giuseppe Lopalco Donato Rigante Luca Cantarini 《Internal and emergency medicine》2016,11(6):781-791
Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis. This review gives an overview on the four main AIDs, namely familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrinopathies, and mevalonate kinase deficiency, focusing on their clinical phenotype in adults and differential diagnosis, suggesting a diagnostic algorithm, and reviewing the available treatments. 相似文献
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Butti E Bergami A Recchia A Brambilla E Franciotta D Cattalini A Stornaiuolo A Lachapelle F Comi G Mavilio F Martino G Furlan R 《Gene therapy》2008,15(3):233-238
Inflammation and immune reaction, or pre-existing immunity towards commonly used viral vectors for gene therapy severely impair long-term gene expression in the central nervous system (CNS), impeding the possibility to repeat the therapeutic intervention. Here, we show that injection of a helper-dependent adenoviral (HD-Ad) vector by lumbar puncture into the cerebrospinal fluid (CSF) of non-human primates allows long-term (three months) infection of neuroepithelial cells, also in monkeys bearing a pre-existing anti-adenoviral immunity. Intrathecal injection of the HD-Ad vector was not associated with any sign of systemic or local toxicity, nor by signs of a CNS-specific immune reaction towards the HD-Ad vector. Injection of HD-Ad vectors into the CSF circulation may thus represent a valuable approach for CNS gene therapy allowing for long-term expression and re-administration. 相似文献
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Cantarini Luca Vitale Antonio Bersani Giulia Nieves Laura Martin Cattalini Marco Lopalco Giuseppe Caso Francesco Costa Luisa Iannone Florenzo Lapadula Giovanni Galeazzi Mauro Ceribelli Angela Brunetta Enrico Selmi Carlo Rigante Donato 《Clinical rheumatology》2016,35(2):501-505
Clinical Rheumatology - The pediatric syndrome characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) and adult Behçet’s disease share some... 相似文献
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Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome
Marco Cattalini Jessica Galli Laura Andreoli Ivana Olivieri Giada Ariaudo Micaela Fredi IAGSA study group Simona Orcesi Angela Tincani Elisa Fazzi 《Journal of clinical immunology》2016,36(7):693-699
Purpose
The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi–Goutières syndrome (AGS).Methods
Seventeen patients with a genetically-confirmed diagnosis of AGS were recruited. At the time of enrollment, past medical and family history was reviewed, looking for possible signs or symptoms of autoimmune disorders. Blood samples were taken, for the detection of a panel of autoantibodies: anti-nuclear, anti-double-stranded-DNA, anti-nucleosome, anti-extractable nuclear antigens, anti-cardiolipin IgG/IgM, anti-β2glycoprotein I IgG/IgM, and anti-neutrophil cytoplasmic. We also measured complement levels determined as C3 and C4 quantification and total complement activity, measured as CH50.Results
Nine of seventeen patients presented with at least one first- or second-degree relative with a history of autoimmune diseases (the childrens’ mother or grand-mother in the majority of cases). A specific autoimmune disease was present in only one AGS patient, namely an autoimmune thyroiditis. Autoantibodies were present in 9/17 patients, with different patterns of positivity. Complement levels were normal in all the patients. There was no correlation between auto-antibody production and personal or family history of autoimmune diseases.Conclusions
Definite autoimmune diseases are not common in patients with AGS. Autoantibodies are mainly directed towards nucleic acids-containing elements but seem not to be pathogenic and, rather, may represent an epiphenomenon of the enhanced interferon production.9.
Soresina A Lougaris V Giliani S Cardinale F Armenio L Cattalini M Notarangelo LD Plebani A 《European journal of pediatrics》2002,161(12):656-659
Common variable immunodeficiency (CVID) and X-linked lymphoproliferative (XLP) disease are two immunodeficiencies that may share a similar immunological phenotype making differential diagnosis difficult. We report two patients initially diagnosed as affected with CVID who, using molecular analysis, have been subsequently found to be affected with XLP disease. Distinguishing between these two diseases is essential since they have different prognosis, treatment and genetic counselling. CONCLUSION: current techniques, such as genetic analysis of the SH2D1A gene and expression of signalling lymphocyte activation molecule-associated protein, allow a definite diagnosis of X-linked lymphoproliferative disease. 相似文献
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Monica Bomba Antonella Meini Anna Molinaro Marco Cattalini Silvia Oggiano Elisa Fazzi Francesca Neri Alessandro Plebani Renata Nacinovich 《Rheumatology international》2013,33(8):2045-2052
We investigated self-image, psychological functioning, and quality of life in children and adolescents with juvenile idiopathic arthritis (JIA). Thirty-nine children with JIA were compared with 80 healthy peers. We first administered the Human Figure Drawing Test (HFDT) to all subjects; children also completed standardized questionnaires evaluating health-related quality of life (PEDSQL? 4.0 Generic Core Scales) and the main aspects of psychological functioning: anxiety (SAFA-A) and depression (CDI). Parents were asked to complete the Child Behaviour Checklist (CBCL) and the PEDSQL? 4.0. For each patient with JIA, clinical notes were gathered and a global disease assessment (visual analog scale––VAS) was performed. Compared to healthy peers, patients with JIA reported reduced maturity quotients at HFDT, more depressive traits, greater anxiety, and lower health-related quality of life. Among the subjects with JIA, HFDT revealed that adolescents had a greater impairment in all areas investigated. Furthermore, there was a significant correlation between the physical well-being rated by VAS and the perception of poorer quality of life in patients, mostly in the psychosocial domains. Children and adolescents with JIA exhibit emotional difficulties and a delay of psychological development leading to low self-esteem, a distorted self-image, more anxiety and depression traits, and a worse quality of life, when compared to healthy subjects. 相似文献