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Maria De Santis, Chiara Crotti, Carlo Selmi
The liver is a lymphoid organ involved in the immune response and in the maintenance of tolerance to self molecules, but it is also a target of autoimmune reactions, as observed in primary liver autoimmune diseases (AILD) such as autoimmune hepatitis, primary biliary cirrhosis, and primary sclerosing cholangitis. Further, the liver is frequently involved in connective tissue diseases (CTD), most commonly in the form of liver function test biochemical changes with predominant cholestatic or hepatocellular patterns...
August 2013: Best Practice & Research. Clinical Gastroenterology
E Barca, M Aguennouz, A Mazzeo, S Messina, A Toscano, G L Vita, S Portaro, D Parisi, C Rodolico
To investigate ANT1 and NF-κB expression in inclusion body myositis (IBM) muscle and to verify their possible roles in the pathogenesis of the disease, we collected muscle samples from five patients with IBM, polimyositis (PM) and controls. p65 form of NF-κB was analyzed using immunocytochemistry, Western blot and EMSA. Western blot of ANT1 was performed and confirmed by gene expression study. Mann-Whitney test was used for groups comparisons. NF-κB (p65) was found over-expressed both with western blot and EMSA, either in IBM or PM patients versus controls (p < 0...
February 2013: Neurological Sciences
Piotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, Anna Smorczewska-Kiljan, Piotr Gietka, Barbara Czartoryska, Anna Tylki-Szymańska
Fabry disease is a rare X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase, which leads to accumulation of globotriasylceramides (GL-3) in visceral tissues and vascular endothelium, causing multi-organ failure. We presenta case of Fabry disease in a 17-year-old patient with mainly gastrointestinal manifestations, diagnosed 10 years after the manifestation of first symptoms. Significant and progressive weight loss with abdominal pain and vomiting, leading to cachexia, were observed in early childhood...
January 2011: Medycyna Wieku Rozwojowego
Vida Demarin, Vanja Basić Kes, Milan Bitunjac, Mira Ivanković
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme alpha-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vessels, renal epithelial cells, cardiac myocytes and numerous neuronal cells. In this report, we present 20-year-old male patient with ischemic stroke in pons. The case had previously been misdiagnosed as polimyositis and vasculitis...
December 2009: Collegium Antropologicum
A Ghirardello, S Zampieri, L Iaccarino, E Tarricone, M Tonello, R Bendo, R Rondinone, F Cozzi, A Doria
OBJECTIVE: To characterize serum autoantibody profiles of patients with idiopathic inflammatory myopathies (IIM) by searching for myositis-specific (MSA) and myositis-associated (MAA) antibodies with sensitive and specific laboratory tests. METHODS: We tested the sera from 46 Caucasian patients diagnosed as affected with IIM at the Division of Rheumatology of Padova University (21 polimyositis, PM; 22 dermatomyositis, DM; 3 myositis overlap syndrome). All patients had definite IIM according to the criteria of Bohan-Peter...
January 2005: Reumatismo
Maria Angela A G Vianna, Claudia T L Borges, Eduardo F Borba, Maria Teresa C Caleiro, Eloisa Bonfá, Suely K N Marie
OBJECTIVE: To characterize the inflammatory cells, the expression pattern of adhesion molecules (ICAM-1 and VCAM-1), membrane attack complex (C5b-9), and major histocompatibility complex (MHC) antigens in muscle biopsy of mixed connective tissue disease (MCTD). METHOD: We studied 14 patients with MCTD, and compared to 8 polimyositis (PM) patients, 5 dermatomyositis (DM) and 4 dystrophies. Inflammatory cells were examined for CD4+, CD8+, memory and naive T cells, natural killer cells, and macrophages...
December 2004: Arquivos de Neuro-psiquiatria
S Jablonska, M Blaszyk
No abstract text is available yet for this article.
May 2004: Journal of the European Academy of Dermatology and Venereology: JEADV
P Pavone, G L Trobia, T Sciacca, E Parano, P Sciacca, R Falsaperla
The inflammatory myopathies are a heterogeneous group of diseases due to autoimmunitary or infective causes. They are diagnosed by clinical electrophysiological features, and muscle biopsy. The autoimmunity group is subdivided in dermatomyositis, polimyositis and inclusion body myositis. The second group caused by viral genesis are called generally "myositis". The two groups have a different prognosis and therapy. The infective group denominated myositis have usually a viral etiology. We have evaluated 6 patients with viral myositis that are studied by physical examination, blood test (CK included), electromyographic pattern and muscle biopsy...
March 1999: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
A Oliveros-Cid, E Martínez-Vila, J Castillo
Autoimmune diseases depend on the pathologic activation of cellular clones, potentially harmful, against soft tissues. They can be classified into systemic and organ-specific diseases. In the systemic subtype, in which the abnormal hyperactivity is not as specific, the most remarkable component of the clinical syndrome is frequently the presence of neurological and/or cutaneous manifestations. This article reviews the major pathogenic mechanisms involved in the principal systemic autoimmune conditions including connective tissue diseases (rheumatoid arthritis, systemic lupus erythematosus, polimyositis, dermatomyositis, scleroderma, mixed connective tissue disease, Sjögren's syndrome, overlap syndromes) and vasculitic syndromes (nodous polyarteritis, giant cell arteritis...
September 1997: Revista de Neurologia
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