Introduction. Cardiovascular events at a young age are often the first manifestation of a genetic disorder such as familial hypercholesterolemia. High cholesterol levels, xanthomas and xanthelasmas, as well as a positive family history of cardiovascular disease, make it possible to identify a group of patients subject to genetic research. The identification of a specific mutation helps to determine further strategy not only for a patient, but also to his or her immediate relatives, thereby effectively conducting both secondary and primary prevention of atherosclerosis complications.Brief description. Using the example of patients from the Krasnodar Lipid Center, the relevance of genetic testing and cascade screening is demonstrated. We show problems of delayed diagnosis and low medical adherence, as well as the ways to optimize care for patients with genetic lipid metabolism disorders.Discussion. The rise in the incidence of cardiovascular events at a young age in developed countries prompts the search for more improved screening and diagnostic methods for familial hypercholesterolemia. The optimal age of initiation of lipid-lowering therapy in children with established familial hypercholesterolemia is also discussed. While secondary prevention appears to be clearer, there is still insufficient achievement of low-density lipoprotein cholesterol targets in patients with a previous cardiovascular event.
Ранняя реперфузия остается ключевым этапом ведения пациентов с острым коронарным синдромом с подъемом сегмента ST (ОКСпST), так как элевация на электрокардиограмме (ЭКГ) признана проявлением критического стеноза или окклюзии коронарной артерии. В то же время около 10-25 % пациентов с острым коронарным синдромом без подъема сегмента ST, по данным коронароангиографии (КАГ), также имеют критический стеноз или окклюзию крупной эпикардиальной артерии. Задержка реваскуляризации в таком случае закономерно приводит к ухудшению исходов. Хотя в текущих рекомендациях кратко упомянуты критерии эквивалентов ОКСпST, сведения по специфическим паттернам ЭКГ все еще недостаточны. Проведен поиск по базам данных MEDLINE и EMBASE, выполнен систематический обзор литературы по паттернам острого коронарного синдрома без подъема ST (ОКСбпST), ассоциированным с критическим стенозом или окклюзией, также приведены сведения по чувствительности и специфичности. Трудно переоценить практическую ценность выявления пациентов высокого риска в отсутствии подъема ST на ЭКГ на этапе скорой помощи или приемного покоя. Ключевые слова: эквивалент ОКС с подъемом сегмента ST, острый коронарный синдром, первичное чрескожное коронарное вмешательство, обзор.
There is constant increase in patients with heart failure every year worldwide. Early diagnosis and prediction of deterioration could upgrade management of patients and slow down the progression of heart failure.The brain natriuretic peptide precursor (NT-proBNP) is considered to be the universal biomarker, although it has several limitations. The search of ideal biomarker is directed into molecular biology and genetics. Microribonucleic acids (microRNAs) regulate different processes in human body, present myocardial specificity, and plasma stability. It has been proven in different trials that diagnostic and prognostic level of microRNAs is equal to NT-proBNP. Potential opportunities of the method are not only diagnosis but therapeutic targets for heart failure
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