Publications by authors named "Tereza Altschmiedova"

Article Synopsis
  • - Familial dysbetalipoproteinemia (FD) is a rare genetic disorder linked to variations in the apolipoprotein E gene (APOE), but not all APOE2/E2 individuals develop symptoms, suggesting other unknown factors may play a role in the disease.
  • - In a study of 101 FD patients and 80 controls, two specific single-nucleotide polymorphisms (SNPs) were significantly associated with the FD phenotype and were used to create genetic risk scores (GRS2 and GRS15) to better assess risk among APOE2/E2 subjects.
  • - The analysis found that individuals with a GRS2 of three or higher had a nearly four-fold greater risk of developing
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Patients with familial hypercholesterolemia (FH) are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD). To perform a retrospective analysis of data to assess the effects of individual lipoproteins and other risk factors (RFs) on the development of ASCVD and to compare these parameters in individuals with versus without ASCVD. Our study group included a total of 1,236 patients with FH (395 men and 841 women with a mean age of 44.

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Purpose Of Review: PCSK9 inhibitors have been shown to be the most effective class of drugs modifying the levels of LDL-cholesterol as the main risk factor for atherosclerotic cardiovascular disease. The aim of this paper is to assess the effect of monoclonal antibodies on lipid and lipoprotein metabolism in real-world practice.

Recent Findings: The outcome trials showed effective reduction of LDL-C by 56-62%.

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The cause of familial hypercholesterolemia (FH) is defect in LDL receptor or familial defect of apolipoprotein B-100 (FDB) or, rarely, defect in proprotein convertase subtilisin/kexin type 9. Identification and treatment of patients with FH improves their prognosis. Our data represent retrospective analysis of 50 years of specialised care in our center.

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Purpose Of Review: Familial hypercholesterolemia (FH) is often perceived and described as underdiagnosed and undertreated, though effective treatment of FH is available. Owing to the mentioned facts, it is ever more imperative to screen and treat FH patients. Subsequent to the identification of patients, the project focuses on the improvement of their prognoses.

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Currently, the familial hypercholesterolemia (FH) rises the interest. The reason is that this genetic disorder is targeted by newly emerged and highly effective hypolipidemic agents, PCSK-9 inhibitors, lomitapid and mipomersen. Present paper discusses 2 patient study groups, before 50 years and nowadays.

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