Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn. · Feb 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is a heart disorder caused by autosomal dominant alterations affecting both sarcomeric genes and other nonsarcomeric loci in a minority of cases. However, in some patients, the occurrence of the causal pathogenic variant or variants in homozygosity, compound heterozygosity, or double heterozygosity has also been described. Most of the HCM pathogenic variants are missense and unique, but truncating mutations of the MYBPC3 gene have been reported as founder pathogenic variants in populations from Finland, France, Japan, Iceland, Italy, and the Netherlands. ⋯ This report expands the mutational spectrum and the inheritance pattern of HCM.
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Pol. Arch. Med. Wewn. · Feb 2020
Bradykinin and oxidative stress in patients with hereditary angioedema due to C1 inhibitor deficiency.
Hereditary angioedema (HAE) is a rare autosomal dominant disease caused by genetic dysfunction of C1 inhibitor (C1-INH) due to mutations in the SERPING1 gene. The disorder is mediated mainly by bradykinin. The clinical course of the disease is varied and not related to genetic changes. ⋯ The higher basal and H2O2-induced ROS levels in patients with C1 INH HAE indicate redox imbalance. However, by reducing basal and H2O2-induced ROS levels, bradykinin shows antioxidant action in this disorder.
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Pol. Arch. Med. Wewn. · Feb 2020
Accurate prediction of significant liver fibrosis using the Pentra score model in patients with chronic hepatitis C.
Noninvasive methods are increasingly used in the clinical assessment of patients with chronic hepatitis C (CHC). ⋯ Our model for detecting significant fibrosis in patients with CHC using pentraxin 3 and other serum biomarkers compares well with the existing and previously published indices. However, further validation in larger cohorts is needed.