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V znam centralizace v p ci o nemocn se vz cn mi onemocnen mi

. Centralizace p?ce na 1. LF UK. ?stav dedicn?ch metabolick?ch poruchKardiocentrum VFNFabryho choroba ? metabolick? dedicn? onemocnen?, velmi vz?cn?, dostupn? enzymatick? l?cbaPlicn? hypertenze ? onemocnen? plicn?ho reci?te ? vysok? tlak vede k selh?n? srdce, choroba vz?cn?, dostupn? l?cbaNeurol

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V znam centralizace v p ci o nemocn se vz cn mi onemocnen mi

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    1. Vznam centralizace v pci o nemocn se vzcnmi onemocnenmi Ale Linhart II. intern klinika 1. LF UK a VFN Praha

    2. Centralizace pce na 1. LF UK stav dedicnch metabolickch poruch Kardiocentrum VFN Fabryho choroba metabolick dedicn onemocnen, velmi vzcn, dostupn enzymatick lcba Plicn hypertenze onemocnen plicnho recite vysok tlak vede k selhn srdce, choroba vzcn, dostupn lcba Neurologick klinika Klinika hematologie

    3. Dedicn metabolick poruchy

    4. Vzcn a presto cast

    5. Zastoupen novch pacientu s metabolickmi poruchami

    6. Anderson Fabryho choroba

    7. Popis Anderson Fabryho nemoci - 1898

    8. Andersonova Fabryho nemoc Lidsk lyzosomln strdav nemoc (LSD) Na X chromozom vzan deficit ?-galaktosidzy A (?-gal A) Porucha metabolismu glykosfingolipidu gen Xq22 >300 identifikovanch mutac Frekvence >1:40.000 muu

    9. Postien u klasickho fenotypu Fabryho nemoci

    10. Multisystmov choroba

    11. Kohorta nemocnch CR

    12. Komplexn pce Lcba pridruench symptomu Bolest Pokozen ledvin Neurologick komplikace Dechov pote Srdecn selhn Specifick lcba Nhradn enzymatick terapie

    13. Kohorta nemocnch s AFD v mezinrodnm kontextu

    14. Age-dependent severity of LVH FOS data

    17. Nhradn enzymatick lcba 2 preparty s registrac EMEA Fabrazyme /Genzyme/ 1 mg / kg / 2 tdny i.v. Replagal /Shire Human Therapeutics/ 0,2 mg / kg / 2 tdny i.v. Prokzny przniv vlivy na Kvalitu ivota (pocen, vkonnost, GIT pote) Bolesti Ledvinn funkce Strukturu a funkci lev komory

    18. Duvody pro centralizaci Vzcn multiorgnov postien vyaduje zkuenosti a multidisciplinrn prstup Zzem laboratorn, genetick, vedeck Vet soubor Lep zklad pro sprvnou indikaci lcby Rozshlej monosti vzkumu Zkladem pro zskn vet podpory ze strany pltcu lcby Zkuen odbornci = monost edukace odborn verejnosti zlepen diagnostiky a depiste

    19. Dedicn metabolick poruchy Cca 500 nemoc Incidence diagnostikovanch pacientu cca 1:1000 (odhady minimlne 1:500) Klinicky velmi heterogenn Diagnostika mon pouze specializovanmi lab.vyetrenmi Efektivn lcba u cca 30-40% nemoc

    20. Causa plicn hypertenze

    21. Nemocn jsou diagnostikovni pozde

    22. Vyetrovac metody u plicn arteriln hypertenze

    23. Bosentan- dlouhodob vsledky BREATHE 1 a studie 351 169 iPAH patients who participated in the 2 pivotal placebo-controlled trials (351 and Breathe-1) and their open-label extension studies (353 and 354) were followed for long-term evaluation. Follow period: Sept. 1999 Dec. 31, 2002 (data cut-off). Kaplan-Meier estimates with 99% confidence intervals for survival were determined. One patient was lost-to-follow up, and was considered as a death in the analysis. For comparison, the predicted survival of these 169 patients was calculated using the formula developed by DAlonzo et al. (derived from the NIH-registry of iPAH patients on conventional therapy prior to the use of epoprostenol and bosentan). Demographic and baseline characteristics between the bosentan iPAH and the NIH-registry iPAH patients were similar. Observed survival was 96.4% after 1 yr and 88.5% after 2 years. Overall death rate for bosentan = 5.5% / year. Using the DAlonzo formula, the predicted survival was estimated to be 69% at 1yr and 57% at 2 yr. 169 iPAH patients who participated in the 2 pivotal placebo-controlled trials (351 and Breathe-1) and their open-label extension studies (353 and 354) were followed for long-term evaluation. Follow period: Sept. 1999 Dec. 31, 2002 (data cut-off). Kaplan-Meier estimates with 99% confidence intervals for survival were determined. One patient was lost-to-follow up, and was considered as a death in the analysis. For comparison, the predicted survival of these 169 patients was calculated using the formula developed by DAlonzo et al. (derived from the NIH-registry of iPAH patients on conventional therapy prior to the use of epoprostenol and bosentan). Demographic and baseline characteristics between the bosentan iPAH and the NIH-registry iPAH patients were similar. Observed survival was 96.4% after 1 yr and 88.5% after 2 years. Overall death rate for bosentan = 5.5% / year. Using the DAlonzo formula, the predicted survival was estimated to be 69% at 1yr and 57% at 2 yr.

    25. CENTRUM PRO PLICN HYPERTENZI VFN PAH (1999-10/2008) 260 nemocnch vechny monosti lcby 170 lceno CTEPH (2003-9/2006) 187 nemocnch 110 operovno mortalita 5%

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