"6" . "[1B8F3A58FB1D]" . . . . "7"^^ . "Tomek, Viktor" . "Tuber\u00F3zn\u00ED skler\u00F3za u d\u011Bt\u00ED sledovan\u00FDch od novorozeneck\u00E9ho v\u011Bku pro prenat\u00E1ln\u00ED n\u00E1lez rhabdomyom\u016F srdce - dv\u011B kazuistiky" . . . "Mr\u00E1zkov\u00E1, Lenka" . "Tuber\u00F3zn\u00ED skler\u00F3za u d\u011Bt\u00ED sledovan\u00FDch od novorozeneck\u00E9ho v\u011Bku pro prenat\u00E1ln\u00ED n\u00E1lez rhabdomyom\u016F srdce - dv\u011B kazuistiky" . "CZ - \u010Cesk\u00E1 republika" . . "10"^^ . . . "RIV/00064203:_____/13:10193482" . . . "http://www.prolekare.cz/pdf?id=41851" . "Jahodov\u00E1, Alena" . "Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports"@en . "Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder with incidence of 1 : 6,000 and frequently occurring sporadic mutations in either TSC1 gene (type 1) or in TSC2 gene (type 2). Clinical manifestation is very variable with frequent formation of hamartomas and benign tumours. TSC is a multi-system disorder characterized by defined dia-gnostic criteria - 11 major symptoms and nine minor ones. Benign cardiac tumour - rhabdomyoma - is one of the major symptoms and may be detected during prenatal period. We present two cases of children monitored from prenatal period for multiple cardiac rhabdomyomas and suspicious TSC dia-gnosis. TSC was dia-gnosed in both children based on clinical picture and later confirmed by DNA analysis. Both presented cases confirm the importance of follow-up by a paediatric neurologist of newborns with prenatally dia-gnosed cardiac rhabdomyoma so that early TSC dia-gnosis can be made and neurological complications, including epilepsy, monitored and treated in a timely manner."@en . "000327582100017" . . "76" . "Vrt\u011Bl, Radek" . . . "1210-7859" . "Tuber\u00F3zn\u00ED skler\u00F3za u d\u011Bt\u00ED sledovan\u00FDch od novorozeneck\u00E9ho v\u011Bku pro prenat\u00E1ln\u00ED n\u00E1lez rhabdomyom\u016F srdce - dv\u011B kazuistiky"@cs . "I" . "Mal\u00EDkov\u00E1, Marcela" . . . "Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports"@en . . . "6"^^ . "Tuber\u00F3zn\u00ED skler\u00F3za (Tuberous Sclerosis Complex, TSC) je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 neurokut\u00E1nn\u00ED onemocn\u011Bn\u00ED, s incidenc\u00ED 1 : 6 000, vysok\u00FDm v\u00FDskytem nov\u00FDch mutac\u00ED a dal\u0161\u00EDm d\u011Blen\u00EDm na TSC typ 1 a 2. Klinick\u00FD pr\u016Fb\u011Bh je velmi variabiln\u00ED s \u010Dast\u00FDm v\u00FDskytem hamartom\u016F a benign\u00EDch n\u00E1dor\u016F. TSC je multisyst\u00E9mov\u00E9 onemocn\u011Bn\u00ED, definovan\u00E9 na z\u00E1klad\u011B dia-gnostick\u00FDch krit\u00E9ri\u00ED - hlavn\u00EDch (11) a vedlej\u0161\u00EDch (9) p\u0159\u00EDznak\u016F. Mezi hlavn\u00ED p\u0159\u00EDznaky pat\u0159\u00ED tak\u00E9 rhabdomyom srdce (CR) - benign\u00ED n\u00E1dor, kter\u00FD m\u016F\u017Ee b\u00FDt nalezen ji\u017E v prenat\u00E1ln\u00EDm obdob\u00ED. P\u0159edkl\u00E1d\u00E1me kazuistiky dvou d\u011Bt\u00ED s TSC, kter\u00E9 byly sledov\u00E1ny od prenat\u00E1ln\u00EDho obdob\u00ED, resp. od novorozeneck\u00E9ho v\u011Bku, pro v\u00EDce\u010Detn\u00FD CR a podez\u0159en\u00ED na TSC. Dia-gn\u00F3za TSC byla u obou d\u011Bt\u00ED nejd\u0159\u00EDve stanovena klinicky a n\u00E1sledn\u011B potvrzena DNA anal\u00FDzou, kter\u00E1 prok\u00E1zala mutaci v TSC1, resp. v TSC2 genu. Kazuistiky ukazuj\u00ED, \u017Ee sledov\u00E1n\u00ED d\u011Btsk\u00FDm neurologem je p\u0159i prenat\u00E1ln\u00EDm/perinat\u00E1ln\u00EDm n\u00E1lezu CR nutn\u00E9 ji\u017E od novorozeneck\u00E9ho v\u011Bku - s c\u00EDlem \u010Dasn\u00E9ho stanoven\u00ED dg. TSC a podchycen\u00ED rozvoje neurologick\u00FDch komplikac\u00ED (v\u010Detn\u011B epilepsie) a s rychl\u00FDm zah\u00E1jen\u00EDm antiepileptick\u00E9 terapie."@cs . . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . "Petr\u00E1k, Bo\u0159ivoj" . "magnetic resonance imaging; epilepsy; cardiac rhabdomyoma; tuberous sclerosis complex type 1, 2"@en . . "RIV/00064203:_____/13:10193482!RIV14-MZ0-00064203" . "\u010Cern\u00FD, Milo\u0161" . . "Puchmajerov\u00E1, Alena" . "Gabera, Anton\u00EDn" . "111994" . . "Tuber\u00F3zn\u00ED skler\u00F3za (Tuberous Sclerosis Complex, TSC) je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 neurokut\u00E1nn\u00ED onemocn\u011Bn\u00ED, s incidenc\u00ED 1 : 6 000, vysok\u00FDm v\u00FDskytem nov\u00FDch mutac\u00ED a dal\u0161\u00EDm d\u011Blen\u00EDm na TSC typ 1 a 2. Klinick\u00FD pr\u016Fb\u011Bh je velmi variabiln\u00ED s \u010Dast\u00FDm v\u00FDskytem hamartom\u016F a benign\u00EDch n\u00E1dor\u016F. TSC je multisyst\u00E9mov\u00E9 onemocn\u011Bn\u00ED, definovan\u00E9 na z\u00E1klad\u011B dia-gnostick\u00FDch krit\u00E9ri\u00ED - hlavn\u00EDch (11) a vedlej\u0161\u00EDch (9) p\u0159\u00EDznak\u016F. Mezi hlavn\u00ED p\u0159\u00EDznaky pat\u0159\u00ED tak\u00E9 rhabdomyom srdce (CR) - benign\u00ED n\u00E1dor, kter\u00FD m\u016F\u017Ee b\u00FDt nalezen ji\u017E v prenat\u00E1ln\u00EDm obdob\u00ED. P\u0159edkl\u00E1d\u00E1me kazuistiky dvou d\u011Bt\u00ED s TSC, kter\u00E9 byly sledov\u00E1ny od prenat\u00E1ln\u00EDho obdob\u00ED, resp. od novorozeneck\u00E9ho v\u011Bku, pro v\u00EDce\u010Detn\u00FD CR a podez\u0159en\u00ED na TSC. Dia-gn\u00F3za TSC byla u obou d\u011Bt\u00ED nejd\u0159\u00EDve stanovena klinicky a n\u00E1sledn\u011B potvrzena DNA anal\u00FDzou, kter\u00E1 prok\u00E1zala mutaci v TSC1, resp. v TSC2 genu. Kazuistiky ukazuj\u00ED, \u017Ee sledov\u00E1n\u00ED d\u011Btsk\u00FDm neurologem je p\u0159i prenat\u00E1ln\u00EDm/perinat\u00E1ln\u00EDm n\u00E1lezu CR nutn\u00E9 ji\u017E od novorozeneck\u00E9ho v\u011Bku - s c\u00EDlem \u010Dasn\u00E9ho stanoven\u00ED dg. TSC a podchycen\u00ED rozvoje neurologick\u00FDch komplikac\u00ED (v\u010Detn\u011B epilepsie) a s rychl\u00FDm zah\u00E1jen\u00EDm antiepileptick\u00E9 terapie." . . . "Tuber\u00F3zn\u00ED skler\u00F3za u d\u011Bt\u00ED sledovan\u00FDch od novorozeneck\u00E9ho v\u011Bku pro prenat\u00E1ln\u00ED n\u00E1lez rhabdomyom\u016F srdce - dv\u011B kazuistiky"@cs . "Filipov\u00E1, Hana" .