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1

Pediatric cardiology emergencies – the role of Long QT Syndrome among arrhythmias

100%

Zipser M. , Zienciuk-Krajka A. , Krenska D. D. , Kwiatkowska J.

European Journal of Translational and Clinical Medicine

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2019

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tom 1

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nr 2

4-10

EN

Long QT syndrome (LQTS) is a hereditary disease with significant mortality, which might be reduced with appropriate management. This cardiac disorder is regarded as rare, but its prevalence remains unknown. The clinical course of LQTS is variable and syncope is a common first manifestation of LQTS. Therefore in each patient after syncope an ECG should be carried out. However, there is no universal QT value applying to all patients (especially infants and children), because it varies depending on age and sex. Genetic testing can be of great importance for the management of families with LQTS and early identification of patient relatives at risk of developing disease. We aimed to show that a very important part of treatment is not only pharmacotherapy, especially beta-blockers, but change of lifestyle plays a significant role.

2

Pediatric cardiology emergencies – the role of Long QT Syndrome among arrhythmias

100%

Zipser M. , Zienciuk-Krajka A. , Krenska D. D. , Kwiatkowska J.

|

nr 2

4-10

EN

Long QT syndrome (LQTS) is a hereditary disease with significant mortality, which might be reduced with appropriate management. This cardiac disorder is regarded as rare, but its prevalence remains unknown. The clinical course of LQTS is variable and syncope is a common first manifestation of LQTS. Therefore in each patient after syncope an ECG should be carried out. However, there is no universal QT value applying to all patients (especially infants and children), because it varies depending on age and sex. Genetic testing can be of great importance for the management of families with LQTS and early identification of patient relatives at risk of developing disease. We aimed to show that a very important part of treatment is not only pharmacotherapy, especially beta-blockers, but change of lifestyle plays a significant role.

3

The human ether-a’-go-go related gene (hERG) Kplus channel blockade by the investigative selective-serotonin reuptake inhibitor CONA-437: limited dependence on S6 aromatic residues

88%

Alexandrou A. J. , Milnes J. T. , Sun S. Z. , Fermini B. , Kim S. C. , Jenkinson S. , Leishman D. J. , Witchel H. J. , Hancox J. C. , Leaney J.

Journal of Physiology and Pharmacology

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2014

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tom 65

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nr 4

4

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

75%

Haack B. , Kupka S. , Ebauer M. , Siemiatkowska A. , Pfister M. , Kwiatkowska J. , Erecinski J. , Limon J. , Ochman K. , Blin N.

Journal of Applied Genetics

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2004

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tom 45

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nr 3

5

An analysis of cardiomyocytes’ electrophysiology in the presence of the hERG gene mutations

63%

Glinka A. , Polak S.

Bio-Algorithms and Med-Systems

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2013

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tom Vol. 9, no. 3

135--140

EN

Mutations in the human ether-à-go-go-related gene are linked with cardiomyocyte repolarization impairment, which, in combination with other factors, can lead to life-threatening arrhythmias. The aim of the study was to demonstrate the effect of selected mutations associated with protein trafficking problems on the action potential of the ventricular cell. To perform the simulations, the O’Hara-Rudy dynamic model was used. The modification of membrane permeability to rapid delayed rectifier current was based on data obtained from in vitro studies with the human embryonic kidney (HEK293) cell line transfected with human genes: wild type and one of the seven mutations (F805C, G601S, D456Y, I31S, R823W, F640V, and A561V). Simulations were carried out for each mutation on epicardial, endocardial, and M-cells with RR interval values of 500, 750, 1000, and 1500 ms. A positive correlation between the APD90 length and the percentage of current reduction and between APD90 and RR interval lengths was observed.

6

Cardiac ion channel gene mutations in Greek long QT syndrome patients

51%

Kotta C.-M. , Anastasakis A. , Gatzoulis K. , Papagiannis J. , Geleris P. , Stefanadis C.

Journal of Applied Genetics

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2010

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tom 51

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nr 4

EN

The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70% of patients with a highly probable clinical diagnosis. In this study, we aimed to genotype and explore the yield of genetic testing of LQTS patients from Greece, for whom there are no collective published data available. We clinically evaluated and genetically screened 17 unrelated patients for mutations in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 cardiac ion channel genes. Genetic testing was positive in 6 out of 8 patients with a highly probable clinical diagnosis of LQTS and negative for all the other patients. Two patients carried KCNQ1 mutations (c.580G>C, c.1022C>T), while 4 patients carried KCNH2 mutations (c.202T>C, c.1714G>A, c.3103delC, c.3136C>T). To the best of our knowledge, the last mentioned mutation (c.3136C>T) is novel. Moreover, 27 single-nucleotide polymorphisms (SNPs) were detected, 5 of which are novel. Our preliminary data indicate a low genetic diversity of the Greek LQTS genetic pool, and are in accordance with international data that genetic testing of the major LQTS genes is efficient in genotyping the majority of patients with a strong clinical diagnosis. Therefore, the transition of an LQTS genetic screening program from research to the diagnostic setting within our ethnic background is feasible.