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NEUROLOGIA NO SCULO XXI

PROF GERSON MAGALHES


ACADEMIA NACIONAL DE MEDICINA

NINDS t-PA STROKE TRIAL: CONCLUSIONS

ACTIVASE (0.9mg/kg, max 90 mg-10% BOLUS, REMAINDER OVER 60min) HAS


BEEN SHOWN TO SIGNIFICANTY INCREASE NEUROLOGICAL RECOVERY AND
REDUCE THE INCIDENCE OF DISABILITY IN ELIGIBLE PATIENTS WITH ACUTE

ISCHEMIC STROKE TREATED WITHIN 3 HOURS OF SYMPTOM ONSET

RAPID AND ACCURATE DIAGNOSIS, PATIENT SELECTION, AND TREATMENT

OF ACUTE ISCHEMIC STROKE IS ACHIEVABLE WITHIN 3 HOURS OF


SYMPTOM ONSET

DOENAS DAS CLULAS

PROTENOPATIAS
DO NCLEO genticas tumorais
MITOCONDRIAIS
LISOSOMIAIS

CANALOPATIAS

PROTENOPATIAS
PARKINSON
D.FRONTOTEMPORAL
PRION
AIZHEIMER
ESCLEROSE LATERAL AMIOTRFICA

(ALS 6 gen FUS/TLS protena FUS)


(ALS 10 gen TARDBP protena TDP 43)

ALFA SINUCLEINOPATIAS

TAOPATIAS
TAOPATIAS

PRION

BETA AMILOIDE

DO NCLEO

GENTICAS
expresso gentica na sade e na doena
RNA interferncia
EPIGENTICA

TUMORAIS
glioblastomas e metilao
oligodendrogliomas e temozolomida
gliomas subependimrios e everolimus
prolactinoma (bromocripitina e carbegolide)
adenoma com h. de crescimento (octreotide)

EXPRESSO GENTICA

HISTONAS - EPIGENTICA

MITOCONDRIAS

QUADRO 3.1 PRINCIPAIS SNDROMES ASSOCIADAS A MUTAES MITOCONDRIAIS

SNDROME

CARACTERSTICAS CLNICAS

MUTAES DE PONTO MITOCONDRIAIS

MERRF (MIM 545000)

EPILEPSIA MIOCLNICA, MIOPATIA, DEMNCIA

MELAS (MIM 540000)

ACIDOSE LTICA, EPISDIOS TIPO AVC, MIOPATIA, CONVULSES,


DEMNCIA

NEUROPATIA TICA HEREDITRIA DE LEBER


(MIM 535000)

CEGUEIRA, DEFEITOS DE CONDUO CARDACA

NARP (MIM 551500)

NEUROPATIA, ATAXIA, RETINITE PIGMENTOSA

DIABETES / SURDEZ (MIM 520000)

DIABETES MELLITUS, SURDEZ

SURDEZ ASSOCIADA A AMINOGLICOSDEO (MIM 58000)

SURDEZ NEUROSSENSORIAL SEGUIDA DE EXPOSIO A


AMINOGLICOSDEO

SNDROME DE LEIGH (MIM 256000)

DISTURBOS DE MOVIMENTO, DISCINESIA RESPIRATRIA, REGRESSO

DIABETES

ENVELHECIMENTO

(mutaes mitocondriais)

DELEES/DUPLICAES
KEARS-SAYRE (MIM 530000)

OFTALMOPLEGIA EXTERNA, RETINOPATIA PIGMENTAR, BLOQUEIO CARDACO,


ATAXIA, AUMENTO DE PROTENA DO LQUIDO CEREBROESPINHAL

PEO

OFTALMOPLEGIA PTOSE, FRAQUEZA MUSCULAR PROXIMAL, RRF na bipsia

PEARSON

MEDULA SSEA E PNCREAS: Anemia refratria sideroblstica, vacuolizao,


na mdula ssea, disfuno excrina do pncreas, sepsis e morte na infncia

MUTAES NUCLEARES

MNGIE (MIM 603041)

MIOPATIA, NEUROPATIA, DISTURBIO GASTROINTESTINAL

NEUROPATIA INFANTIL FATAL (MIM 251880)

DEPLEO DE DNA MITOCONDRIAL

OPA 1

ATROFIA TICA DOMINANTE AUTOSSMICA


(superfcie da membrana interna mitocondrial)

CHARCOT - MARIE TOOTH 2A

NEUROPATIA PERIFRICA
(MFN 2- mitofusina)

DINAMIN - RELATED PROTEIN

ENCEFOLOPATIA SEVERA NA INFNCIA

FRIEDREICH

CROMOSSOMA 9 - FRATAXINA

PARKINSON

DJ 1, LRRK, PINK 1

HUNTINGTON

CROMOSSOMA 4

BARTH

(X LINKED MIOPATIA, CARDIOMIOPATIA, RETARDO DO


CRESCIMENTO, CARDIOLIPINA ALTERADA.

DOENAS DO CICLO DE KREBS E DA OXIDAO


DOS CIDOS GRAXOS

CANALOPATIAS

CANALOPATIAS

CANALOPATIAS

CANALOPATIAS

CANALOPATIAS

CANALOPATIAS

DOENAS EMERGENTES E REEMERGENTES


TUBERCULOSE
HANTAVIRUS
LISSAVIRUS AUSTRALIANO (HENDRA VIRUS)
COLERA
CHANDIPURA VIRUS (ARBOVIRUS)
AIDS (PNEUMOCISTI)
NIPAH VIRUS (MALSIA 1999)

DENGUE
CHIKUNGUNYA (MOAMBIQUE)
FEBRE AMARELA
TOSCANA VIRUS
FILARIOSE

LYME (BORRELIA)
WEST NILE VIRUS
EBOLA
MASBURG

INFECES RESISTENTES

ESTAFILOCOCOS RESISTENTES A METICILINA


PNEUMOCOCOS RESISTENTES
TUBERCULOSE

POLUO

BAA DE MINAMATA
PESTICIDAS

TERRORISMO

GAS SARIN
BACILLUS ANTRACIS

BIOTICA
PROJETO GENOMA genoma individual
CLULAS TRONCO