Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10361238" target="_blank" >RIV/00216208:11110/17:10361238 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/17:00098481 RIV/00216208:11150/17:10361238 RIV/00209775:_____/17:N0000029 RIV/65269705:_____/17:00067355 a 3 dalších

Výsledek na webu

<a href="http://www.biomed.cas.cz/physiolres/pdf/66/66_S1.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/66/66_S1.pdf</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

Popis výsledku v původním jazyce

Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder.It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage.The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events.Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1: 250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next- generation sequencing.FH still remain undiagnosed even though the Czech Republic is one of the most successful countries with respect to FH detection.The opportunities of international collaboration and experience sharing within international programs (e.g.EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.

Název v anglickém jazyce

Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

Popis výsledku anglicky

Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder.It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage.The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events.Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1: 250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next- generation sequencing.FH still remain undiagnosed even though the Czech Republic is one of the most successful countries with respect to FH detection.The opportunities of international collaboration and experience sharing within international programs (e.g.EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

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OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

<a href="/cs/project/NV15-28277A" target="_blank" >NV15-28277A: Využití genového LDL skóre v diagnostice primárních hypercholesterolemií a odhadu kardiovaskulárního rizika</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Physiological Research

ISSN

0862-8408

e-ISSN

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Svazek periodika

66

Číslo periodika v rámci svazku

Suppl. 1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

9

Strana od-do

"S1"-"S9"

Kód UT WoS článku

000398620900002

EID výsledku v databázi Scopus

2-s2.0-85017094172