"Detekce heredit\u00E1rn\u00EDch amyloid\u00F3z"@cs . "\u0160ev\u010D\u00EDkov\u00E1, Sabina" . "Klinick\u00E1 biochemie a metabolismus" . "[B826E7FC56D4]" . "RIV/00216224:14110/14:00076161" . "Amyloid\u00F3za je ozna\u010Den\u00ED pro skupinu heterogenn\u00EDch onemocn\u011Bn\u00ED, kter\u00E1 vedou k extracelul\u00E1rn\u00ED depozici amorfn\u00EDch hmot proteinov\u00E9 povahy. Tyto hmoty mohou zp\u016Fsobit zm\u011Bny v org\u00E1nech a tk\u00E1n\u00EDch vedouc\u00ED k jej\u00EDch nevratn\u00E9mu po\u0161kozen\u00ED nebo dokonce k smrti jedince. Celosv\u011Btov\u011B ud\u00E1van\u00E1 incidence amyloid\u00F3zy je 10/100 000, p\u0159esn\u00E9 \u00FAdaje z \u010Cesk\u00E9 republiky v\u0161ak nejsou zn\u00E1my. Specifick\u00FDm typem amyloid\u00F3zy, je\u017E se vyskytuje asi u jednoho pacienta ze 100 000, je heredit\u00E1rn\u00ED amyloid\u00F3za, jej\u00ED\u017E p\u0159\u00ED\u010Dinou je vrozen\u00E1 patologick\u00E1 mutace v n\u011Bkter\u00E9m z gen\u016F k\u00F3duj\u00EDc\u00EDm prekurzory amyloidn\u00EDch vl\u00E1ken, nej\u010Dast\u011Bji v genu pro transthyretin (TTR). V \u010Cesk\u00E9 republice v\u0161ak z\u00E1chyt nemocn\u00FDch s heredit\u00E1rn\u00ED amyloid\u00F3zou zat\u00EDm nedosahuje hodnot celosv\u011Btov\u00E9 ud\u00E1van\u00E9 incidence. V sou\u010Dasn\u00E9 dob\u011B roste z\u00E1jem o zdokonalen\u00ED diagnostiky amyloid\u00F3zy sm\u011Brem, kter\u00FD by komplexn\u011B pokryl screening v\u0161ech gen\u016F spojen\u00FDch s heredit\u00E1rn\u00ED amyloid\u00F3zou v jednom diagnostick\u00E9m setu." . "2" . . "Detekce heredit\u00E1rn\u00EDch amyloid\u00F3z" . . "RIV/00216224:14110/14:00076161!RIV15-MSM-14110___" . "Kufov\u00E1, Zuzana" . "3"^^ . . . "3"^^ . "22" . . . . "Detection of Hereditary Amyloidosis"@en . . . "Detekce heredit\u00E1rn\u00EDch amyloid\u00F3z"@cs . "amyloidosis; genomics; sequencing"@en . "Amyloidosis is a group of heterogeneous diseases that lead to extracellular deposition of amorphous material of protein nature, which can cause changes in organs or tissues and lead to their irreversible damage or even to death. Worldwide, incidence of amyloidosis is determined to be around 10/100 000, but data from the Czech Republic are missing. A specific type of amyloidoses is hereditary amyloidosis which is occurs in 1/10 cases. It is caused by congenital pathological mutation in genes coding for precursor of amyloid fibers, in most case mutations in the transthyretin (TTR) gene. Unfortunately, incidence of hereditary amyloidosis in the Czech Republic is lower than worldwide incidence. Currently, the main aim is to improve diagnostics of amyloidosis to get complex screening of all genes cause hereditary amyloidosis using one dia\u00ACgnostic set. The reason of implementation is potential heredity in the family and the fact that earlier detection can affect treatment positively."@en . . . "CZ - \u010Cesk\u00E1 republika" . "Detection of Hereditary Amyloidosis"@en . . "I" . "14110" . "Detekce heredit\u00E1rn\u00EDch amyloid\u00F3z" . "5"^^ . . . "H\u00E1jek, Roman" . . "10652" . "Amyloid\u00F3za je ozna\u010Den\u00ED pro skupinu heterogenn\u00EDch onemocn\u011Bn\u00ED, kter\u00E1 vedou k extracelul\u00E1rn\u00ED depozici amorfn\u00EDch hmot proteinov\u00E9 povahy. Tyto hmoty mohou zp\u016Fsobit zm\u011Bny v org\u00E1nech a tk\u00E1n\u00EDch vedouc\u00ED k jej\u00EDch nevratn\u00E9mu po\u0161kozen\u00ED nebo dokonce k smrti jedince. Celosv\u011Btov\u011B ud\u00E1van\u00E1 incidence amyloid\u00F3zy je 10/100 000, p\u0159esn\u00E9 \u00FAdaje z \u010Cesk\u00E9 republiky v\u0161ak nejsou zn\u00E1my. Specifick\u00FDm typem amyloid\u00F3zy, je\u017E se vyskytuje asi u jednoho pacienta ze 100 000, je heredit\u00E1rn\u00ED amyloid\u00F3za, jej\u00ED\u017E p\u0159\u00ED\u010Dinou je vrozen\u00E1 patologick\u00E1 mutace v n\u011Bkter\u00E9m z gen\u016F k\u00F3duj\u00EDc\u00EDm prekurzory amyloidn\u00EDch vl\u00E1ken, nej\u010Dast\u011Bji v genu pro transthyretin (TTR). V \u010Cesk\u00E9 republice v\u0161ak z\u00E1chyt nemocn\u00FDch s heredit\u00E1rn\u00ED amyloid\u00F3zou zat\u00EDm nedosahuje hodnot celosv\u011Btov\u00E9 ud\u00E1van\u00E9 incidence. V sou\u010Dasn\u00E9 dob\u011B roste z\u00E1jem o zdokonalen\u00ED diagnostiky amyloid\u00F3zy sm\u011Brem, kter\u00FD by komplexn\u011B pokryl screening v\u0161ech gen\u016F spojen\u00FDch s heredit\u00E1rn\u00ED amyloid\u00F3zou v jednom diagnostick\u00E9m setu."@cs . "1210-7921" . .