G De Socio

The Catholic University of America, Washington, Washington, D.C., United States

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Publications (12)24.67 Total impact

  • The Journal of Rheumatology 09/2010; 37(9):1971-2. · 3.26 Impact Factor
  • Clinical and experimental rheumatology 01/2010; 28(4 Suppl 60):S101. · 2.66 Impact Factor
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    ABSTRACT: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive, autoinflammatory disorder characterized by recurrent, self-limiting episodes of short duration (mean 24-72 h) of fever and serositis. FMF is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), a heterogeneous group of recently identified diseases clinically characterized by recurrent febrile attacks, in the absence of autoantibodies and antigen-specific T lymphocytes. In FMF, periodic attacks show inter- and intra-individual variability in terms of frequency and severity. Usually, they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period. The Mediterranean FeVer gene (MEFV) responsible gene maps on chromosome 16 (16p13) encoding the pyrin-marenostrin protein. The precise pathologic mechanism is still to be definitively elucidated; however a new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF. The most severe long-term complication is type AA amyloidosis, principally affecting the kidney and the cause of chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of Familial Mediterranean Fever is the colchicine. New drugs in a few colchicine resistant patients have been tried, but additional studies on larger series are necessary to draw definitive conclusions.
    Joint, bone, spine: revue du rhumatisme 05/2009; 76(3):227-33. · 2.25 Impact Factor
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    ABSTRACT: In autoimmune disorders (ADs), if Hepatitis C Virus (HCV) is present, immunosuppressive treatment could increase virus replication. Cyclosporine A (CsA), in standard therapeutic doses, has been proven able to inhibit HCV cyclophilin in vitro. Therefore CsA could improve the therapy of HCV patients with ADs. In these patients, we started an open pilot study to evaluate the safety of 3 mg/kg CsA and the ability to reduce steroid therapy. Five females and 1 male were recruited; mean age 66 +/- 8 years, mean disease duration 13 +/- 5 years. Three patients are affected by Psoriasic Arthritis, 1 by Rheumatoid Arthritis, 1 by Sjogren Syndrome, and 1 by Myasthenia Gravis. None of them had chronic active hepatitis. HCV genotypes were type 2 (in 3 cases) and type 1 (in 3 cases). Patients were treated with 3 mg/kg of CsA for a period of time ranging from 6 to 12 months. The starting mean dose of prednisone was 12.5 mg/day. Liver function tests were checked monthly and serum HCV-RNA load was checked by RT-PCR before and 2 months into the therapy. The prednisone dose was reduced from 12.5 mg/day to 7.5 mg/day. The aminotransferases levels were unchanged after 6 months. In patients with low HCV-RNA levels before treatment, no modifications of viral load were observed, whereas patients with increased levels at onset showed mild reduction 2 months into the treatment. Immunosuppressive treatment of ADs patients with HCV infection can be safely provided with the integration of CsA.
    European review for medical and pharmacological sciences 04/2009; 13 Suppl 1:63-9. · 1.09 Impact Factor
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    ABSTRACT: Familial Mediterranean Fever (FMF) is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), nowadays considered as innate immunity disorders, characterized by absence of autoantibodies and autoreactive T lymphocytes. FMF is a hereditary autosomal recessive disorder, characterized by recurrent, self-limiting episodes of short duration (mean 24e72 h) of fever and serositis. In FMF, periodic attacks show inter- and intra-individual variability in terms of frequency and severity. Usually, they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period. The Mediterranean FeVer gene (MEFV) responsible gene maps on chromosome 16 (16p13) encoding the Pyrine/Marenostrin protein. The precise pathologic mechanism is still to be definitively elucidated; however a new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF. The most severe long-term complication is type AA amyloidosis, causing chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of FMF is the colchicine. New drugs in a few colchicine resistant patients are under evaluation
    European review for medical and pharmacological sciences 04/2009; 13 Suppl 1:51-3. · 1.09 Impact Factor
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    ABSTRACT: Sarcoidosis is a granulomatous disease of unknown origin, with pulmonary findings in more than 90% of patients. Extrapulmonary involvement is common and all organs can be involved (especially lymph nodes, eyes, joints, central nervous system) but it is rare to find an isolated extrapulmonary disease (less than 10% of patients). Granulomatous inflammation of the spleen and the liver is common in patients with systemic sarcoidosis, while hepatosplenic enlargement is unusual and splenic involvement rare. We report two cases of systemic sarcoidosis, that onset with splenic and hepatosplenic disease, and one case with splenic sarcoidosis without pulmonary involvement. In the first case a 53-year-old woman with mild abdominal pain underwent sonography and CT, which revealed one hypoechoic/hypodense splenic lesion. Laboratory tests were normal. In order to exclude a lymphoma, splenectomy was performed: histology revealed a sarcoid granuloma. After surgery the patient was asymptomatic and now, after two years, disease is silent. The second case is a 66-year-old woman with a recent weight loss (8 kg in two months) and alterated liver function tests (AST 61 U/l, ALT 72 U/l, Alkaline phosphatase 748 U/l, g-GT 381 U/l). Since she had a familiar history of colon cancer, abdominal US scan, abdominal CT scan and MRI were performed and showed inter-aorto-caval lymphadenopathies and discreet multiple bilobar hepatic and splenic substitutive lesions, with no signs of primary tumor. Upper and lower GI endoscopy, full gynecological workup, complete set of tumor markers, bone marrow biopsy were performed. All resulted negative for neoplasia. Small pulmonary infiltrations were observed on chest-CT scan but cytology on BAL was normal. Infections were also excluded. An exploratory laparotomy showed whitish peritoneal, hepatic and splenic nodules. The histological exam revealed chronic granulomatous lesions typical for sarcoidosis. During a two-year follow-up after the splenectomy the patient feels well without any treatment. The third patient is a 32-year-old woman with mild epigastric pain after meals. Neck-thoracic CT, bone scintigraphy and upper GI endoscopy were negative. Abdominal US and MR showed splenomegaly with multiple splenic lesions. Splenectomy was performed and histological exam showed chronic granulomatous lesions typical for sarcoidosis. Further laboratory tests were normal, except for ACE (66 UI/l). After the surgery ACE became normal and now, three years later, the patient is still asymptomatic. We conclude that hepatosplenic involvement is less rare than it is thought. It is often oligosymptomatic or accompanied with unspecific manifestations and laboratory abnormalities. The diagnosis could be difficult; in fact typical laboratory findings of sarcoidosis such as ACE, lysozyme, calcium, were not diagnostic. Ultrasonography and CT were important but the diagnosis was established only with the histological examination of suspected lesions. This latter required to differentiate liver and/or spleen sarcoidosis from tuberculosis and other infections, primary biliary cirrhosis, metastasis or malignant lymphoma.
    European review for medical and pharmacological sciences 04/2009; 13 Suppl 1:37-44. · 1.09 Impact Factor
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    ABSTRACT: Amyloidosis is a rare disease caused by extracellular deposits of insoluble fibrillar proteins in various organs and tissues. There are different forms of amyloidosis distinguished by the type of protein fibrils, by the sites of deposition and by associated conditions. Gastrointestinal involvement is common both in primary and secondary amyloidosis, while isolated gastrointestinal amyloidosis is rare. We describe a case of AL amyloidosis with a gastrointestinal involvement and restrictive cardiomiopathy. A 64 year old woman came to our attention with a history of chronic diarrhoea and weight loss, associated with dysphagia, dry mouth, xerophtalmia, chronic gastritis and depression. Clinical diagnosis has been difficult because of aspecificity of symptoms that mimed other more common diseases, like gastro-paresis, epigastric discomfort, gastric or duodenal ulcers, perforation, malabsorption, intestinal pseudo-obstruction. There is an important risk of misunderstanding and diagnostic delay. Indeed in this patient a diagnosis of irritable colon syndrome was erroneously established two years before admission in our hospital. Therefore gastrointestinal amyloidosis should be considered among differential diagnoses of chronic diarrhoea and weight loss when other more common diseases have been excluded.
    European review for medical and pharmacological sciences 04/2009; 13 Suppl 1:45-50. · 1.09 Impact Factor
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    ABSTRACT: Retroperitoneal fibrosis (RPF) is a disease characterized by inflammatory fibrotic processes affecting the retroperitoneal structures. Familial Mediterranean Fever (FMF) is an autosomal recessive disorder, characterized by fever and attacks of sterile serositis. Colchicine is the only suitable drug for prevention of acute episodes. We describe a case of association between RPF and FMF in a 48-year-old male, in whom therapy with colchicine, besides preventing acute episodes, allowed RPF regression. To date the association between FMF and RPF and the use of colchicine therapy alone for RPF has not been described.
    International journal of immunopathology and pharmacology 01/2009; 22(2):521-4. · 2.99 Impact Factor
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    ABSTRACT: La maladie périodique (fièvre familiale méditerranéenne) est une maladie héréditaire, à transmission autosomique récessive, faisant partie des maladies auto-inflammatoires. Elle est caractérisée par des épisodes récidivants, de courte durée (en moyenne 24 à 72 heures) et de résolution spontanée, comportant de la fièvre et l’inflammation d’une séreuse. La maladie périodique est la plus fréquente des fièvres périodiques au sein des maladies auto-inflammatoires qui constituent un groupe hétérogène et récemment identifié, de maladies caractérisées par des accès fébriles récidivants, sans auto-anticorps, ni lymphocytes T spécifiques de l’antigène. Habituellement, les crises sont déclenchées par des stimuli anodins et peuvent être précédées d’une phase prodromique. Le gène responsable de la fièvre familiale méditerranéenne, appelée MEFV, est situé sur le chromosome 16 (16p13) et code pour la protéine pyrine-marénostrine. Le mécanisme physiopathologique précis de la maladie périodique nécessite d’être encore déterminé. Le nouveau complexe macromoléculaire appelé inflammasome, qui semble jouer un rôle très important dans le contrôle de l’inflammation, pourrait être impliqué dans la pathogénie de la maladie périodique. La complication la plus sévère à long terme est l’amylose AA qui atteint surtout les reins et peut entraîner une insuffisance rénale chronique. Des facteurs de risque, à la fois génétiques et non génétiques, du développement de l’amylose secondaire ont été identifiés. Actuellement, le seul traitement efficace de la maladie périodique est la colchicine. De nouvelles molécules ont été essayées chez des patients réfractaires à la colchicine, mais des études supplémentaires portant sur des effectifs suffisants sont nécessaires avant d’aboutir à des conclusions formelles.
    Revue Du Rhumatisme - REV RHUM. 01/2009; 76(5):382-389.
  • Digestive and Liver Disease 03/2008; 40. · 3.16 Impact Factor
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    ABSTRACT: Antiphospholipid syndrome is a disorder characterised by recurrent venous or arterial thrombosis and/or foetal losses associated with typical laboratory abnormalities. The initial manifestation of anthiphospholipid syndrome can involve many organ systems either singly or in combination. We describe the case of a 62 yr old female showing schizophrenia-like symptoms in which further evaluations allowed us to diagnose the antiphospolipid syndrome.
    International journal of immunopathology and pharmacology 01/2006; 19(4):915-7. · 2.99 Impact Factor
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    ABSTRACT: In the last few years many studies have shown the potential role of different triggers in the pathogenesis of several autoimmune diseases. In particular, in Sjogren's syndrome the presence of a genetic background is considered determining, but environmental factors have recently been described as triggers or precipitators. In this report, we describe the case of a young woman affected by celiac disease in which an Ascaris lumbricoides infestation and estrogen therapy could have played a role in the development of Sjogren's syndrome.
    International journal of immunopathology and pharmacology 01/2006; 19(2):445-8. · 2.99 Impact Factor