Publications by authors named "O Krystufkova"

Background: The presence of ACPA significantly increases the risk of developing RA. Dysregulation of lymphocyte subpopulations was previously described in RA. Our objective was to propose the predictive model for progression to clinical arthritis based on peripheral lymphocyte subsets and ACPA in individuals who are at risk of RA.

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Objective: The interplay between dysphagia, cancer, and mortality in idiopathic inflammatory myopathies (IIM) has not been carefully studied. The aim of this study was to investigate possible effect modification of cancer on the association between dysphagia and mortality in early IIM.

Methods: A multi-center cohort of 230 adult IIM patients with dysphagia assessment within 6 months of disease onset was assembled.

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Background: In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM.

Methods: We included 1348 IIM patients and determined the occurrence of 14 myositis-specific or -associated autoantibodies.

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Article Synopsis
  • Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a dangerous condition causing repeated swelling, and a study analyzed genetic defects in 207 Czech patients to understand it better.
  • Researchers used advanced techniques to identify a total of 56 genetic variants linked to the condition, including 5 new variants that likely cause the disease.
  • The findings showed a higher rate of splicing variants compared to other populations, revealed connections between certain genetic variants and disease characteristics, and emphasized the need for thorough genetic screening for better diagnosis and treatment of C1-INH-HAE.
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Article Synopsis
  • Idiopathic inflammatory myopathies (IIM) are autoimmune diseases causing muscle and skin inflammation, leading to symptoms like chronic weakness and fatigue, with complement-mediated destruction involved in their pathology.
  • A study analyzed gene copy number variations in 1644 IIM patients and 3526 healthy controls, finding low GCNs and complement deficiencies significantly increased the risk of IIM.
  • Results indicated that complement deficiency is particularly relevant in cases of dermatomyositis and polymyositis, while a specific gene was linked to a high risk of inclusion body myositis (IBM).
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