Multisystemic disease

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  • The next important milestone emerged in 1990 when three independent working groups described the role of2-glycoprotein I as a target antigen in antiphospholipid antibodies’ action (Galli M, et al; 1990, Matsura E, et al; 1990, McNeil HP, et al; 1990). This discovery substantially changed point of view of many of the researchers and also clinical practisers in the topic and it led to research of 2-glycoprotein I structure, function and confirmation of significance of its antibodies presence during the next years....

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  • When searching the history of antiphospholipid antibodies one must meet cornerstone in Graham Hughes’s descriptions of antiphospholipid syndrome in his “Prosser-White Oration” to the British Society of Dermatology in 1983 (Hughes GRV; 1984). The main points of his lecture can be found in different publications (Hughes GRV; 1984, Hughes GRV; 1999, Khamastha MA; 2000) and they are still truthful although they have been expressed almost thirty years ago.

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  • Various systemic diseases (systemic vasculitis-systemic lupus erythematosis, Henoch-Sch¨ onlein purpura, hemolytic ure- mic syndrome, sickle cell disease, and malignancy) and syn- dromes (chromosomal aberrations, Rubinstein-Taybi, Cor- nelia de Lange, and many others) may affect the kidney in childhood [1]. Renal involvement should be excluded in any individual with multisystem disease (collagen disease, diabetes mellitus, and storage diseases). Systemic diseases associated with glomerular abnormalities may present with arthritis, rash, hypertension, hematuria, or proteinuria.

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  • (BQ) Part 2 book "Gastrointestinal imaging" presents the following contents: Focal liver disease, gallbladder, pancreas, bile ducts, spleen, multisystem disorders and syndromes, peritoneum, mesentery and abdominal wall.

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  • Phenotypic Heterogeneity Phenotypic heterogeneity occurs when more than one phenotype is caused by allelic mutations (e.g., different mutations in the same gene) (Table 62-4). For example, laminopathies are monogenic multisystem disorders that result from mutations in the LMNA gene, which encodes the nuclear lamins A and C. Twelve autosomal dominant and four autosomal recessive disorders are caused by mutations in the LMNA gene.

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  • Tuberculosis and sarcoidosis are chronic diseases that rarely occur concomitantly. Sarcoidosis is a multisystem granulomatous disorder characterized pathologically by the presence of non-caseating granulomas in involved tissues. Tuberculosis is infectious disease caused by Mycobacterium tuberculosis characterized by granulomas with caseous necrosis. Case presentation: We present a case of 43-year-old female refugee from Kosovo with microbiological confirmation of pulmonary tuberculosis and pulmonary and skin sarcoidosis at the same time.

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