Terapevt Arkh
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The paper deals with the topical problem of modern gastroenterology and coloproctology--the influence of genetic factors on the development and course of Crohn's disease (CD). It presents the data of foreign authors and the results of Russia 's first study evaluating the effect of the major polymorphic variants of the NOD2/CARD15 gene predisposing to CD on the risk, course, and other features of CD.
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The paper deals with the analysis of studies of the role of the bone morphogenetic proteins fibroblast growth factor 23 (FGF-23) and Klothno in the development of vascular wall calcification in chronic renal disease (CRD). FGF-23 is shown to be an important phosphaturic hormone that inhibits hypercalcemic and hyperphosphatemic effects of elevated serum vitamin D concentrations. ⋯ Most authors regard FGF-23 as a potential uremic toxin in patients with end-stage CRD. There are data that support the renoprotective value of the morphogenetic protein Klotho whose expression in CRD is decreased.
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Rheumatoid arthritis (RA) is a chronic autoimmune disease that is characterized by a systemic inflammatory and destructive joint lesion that is manifested by the involvement of various organs and systems into the pathological process. Whether the variants of the course and outcomes of RA may be predicted early is the most important inadequately studied problem. HLA-DRB1* genotypes affect disease severity; however, different alleles encoding the identical amino acid sequence have a varying association with the disease and their combinations can differently increase the risk of RA. ⋯ A number of studies have demonstrated that if a patient has concurrently antibodies to cyclic citrullinated peptide (CCP) and rheumatoid factor, as well as HLA-DRB1 alleles, the likelihood of rapid X-ray progression is 10 times greater than that in a patient without these markers. The paper considers the course of early RA depending on the combined determination of immunological and immunogenetic markers (SE and CCP antibodies). Each of them makes a substantial contribution to the development of a destructive process in early RA, which necessitates the assessment of a combination of the factors.
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Comparative Study
[FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype].
To estimate the extent of FLT3 and NPM1 gene mutations and the impact of mutations of FLT3-ITD on the survival of patients with acute myeloid leukemias (AML). ⋯ The findings allow AML patients with a normal karyotype and the FLT3-ITD-/NPM-genotypes to be identified as a poor prognosis group.
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Case Reports
[Broken heart syndrome or Takotsubo cardiomyopathy. (Literature review and clinical observations)].
Takotsubo cardiomyopathy is an acute cardiac syndrome that mimics ST segment elevation myocardial infarction. It is characterized by transient local contractility disturbances as akinesis of the apical and middle segments of the left ventricle concurrent with hyperkinesis of its basal portions in the absence of significant coronary artery changes. A description of 2 clinical cases and a review of literature on this rare myocardial disease are given.