RESUMO
OBJECTIVES: The apolipoprotein E gene (APOE) polymorphism may influence outcome in various forms of brain injury. The association between APOE genotype and long-term ischemic stroke (IS) outcome is controversial. We have examined the effect of stroke risk factors, clinical status at admission and APOE genotype on survival and dependency 1 year after IS. METHODS: We investigated 496 consecutively subjects with IS. Information concerning risk factors and clinical data were collected prospectively. Functional dependency was estimated with modified Rankin scale (mRS) and defined as a score of 3-5. Each patient was offered a I year follow-up evaluation. APOE genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Multivariate regression models were used to analyse predictors of death and poor outcome (death or dependency) within 1 year after the stroke. RESULTS: The distribution ofAPOE genotypes was 69% with genotype E3/E3, 18% with genotype F3/ E4, 12% with genotype E2/13 and 1% with genotype F2/14. At year 1, 169 patients (38%) had died and 78 of the survivors (28%) were functionally dependent. The best predictors of death at year 1 were: age over 70 years, congestive heart failure, atrial fibrillation, disturbed consciousness and severe hand paresis. Poor outcome was independently predicted by: age over 70 years, congestive heart failure, pre-stroke mRS> or =3, marked disturbance of consciousness and severe hand paresis. CONCLUSION: We did not find any impact of APOE genotype on mortality or poor outcome 1 year after IS.
Assuntos
Apolipoproteínas E/genética , Isquemia Encefálica/genética , Isquemia Encefálica/mortalidade , Predisposição Genética para Doença/genética , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/mortalidade , Distribuição por Idade , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Isquemia Encefálica/metabolismo , Comorbidade , Transtornos da Consciência/epidemiologia , Feminino , Frequência do Gene , Testes Genéticos , Genótipo , Insuficiência Cardíaca/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Paresia/epidemiologia , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Acidente Vascular Cerebral/metabolismo , Taxa de Sobrevida , Fatores de TempoRESUMO
Metachromatic leukodystrophy is a genetic metabolic disease which generally occurs in childhood, surprisingly it can also occur during adulthood. Adult forms have very often characteristic presentations with progressive dementia. The authors presented a case of metachromatic leukodystrophy in an adult, differential diagnosis and examinations which possible made diagnosis.
Assuntos
Leucodistrofia Metacromática/diagnóstico , Adulto , Demência/diagnóstico , Demência/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Leucodistrofia Metacromática/complicações , Imageamento por Ressonância MagnéticaRESUMO
This paper reports two cases of leptomeningitis carcinomatosa with progressive cranial nerves injury as the first clinical sign of disseminated disease. Neurological state, diagnostic procedure and treatment are described.
Assuntos
Neoplasias dos Nervos Cranianos/secundário , Nervos Cranianos/patologia , Neoplasias Meníngeas/patologia , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Nervos Cranianos/diagnóstico por imagem , Progressão da Doença , Feminino , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/terapia , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
The Listeria monocytogenes infection is rare and difficult to diagnosis. However, it is associated with a high mortality in adults. A case is presented of a 78-year-old woman with an immunological deficit following viral infection (herpes zoster).
Assuntos
Cistos Aracnóideos/diagnóstico , Meningite por Listeria/diagnóstico , Idoso , Anti-Infecciosos/uso terapêutico , Encéfalo/patologia , Diagnóstico Diferencial , Feminino , Herpes Zoster/virologia , Humanos , Imageamento por Ressonância Magnética , Meningite por Listeria/tratamento farmacológico , Combinação Trimetoprima e Sulfametoxazol/uso terapêuticoRESUMO
The authors report a case of stroke in a young adult patient caused by intracranial internal carotid artery dissection--result of rapid neck movement. The patient developed hemiparesis, but all neurologic symptoms completely regressed after rehabilitation and now (18 months) after stroke there are no neurological symptoms.
Assuntos
Dissecação da Artéria Carótida Interna/complicações , Dissecação da Artéria Carótida Interna/diagnóstico , Acidente Vascular Cerebral/etiologia , Adulto , Dissecação da Artéria Carótida Interna/etiologia , Feminino , Movimentos da Cabeça , Humanos , Acidente Vascular Cerebral/diagnóstico , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND: We recently discovered that APOE epsilon3/epsilon4 genotype in men and APOE epsilon2/epsilon3 genotype in women are associated with increased risk of death from ischemic stroke (IS). One of the main physiological roles of apolipoprotein E is participation in cholesterol metabolism. A significant association of low serum cholesterol level with increased risk of death from stroke was documented. So, we aimed to establish if an association exists between APOE genotype, serum cholesterol and 1-month mortality in IS. METHODS: We studied 666 patients (330 men, 336 women) with a diagnosis of IS. Total serum cholesterol (TC) was measured with the method of Abbott Spectrum (USA). APOE genotyping was performed by PCR-RFLP method. RESULTS: The highest frequency of low serum TC was associated with APOE epsilon2/epsilon3 genotype (both in men and in women). Low serum TC was associated with increased mortality rate only in women; this effect was evident only in females not possessing APOE epsilon2/epsilon3. Female patients with APOE epsilon2/epsilon3 genotype had high 1-month mortality rate independently from serum TC. In multiple regression analyses APOE epsilon3/epsilon4 genotype in men and APOE epsilon2/epsilon3 genotype in women predicted risk of death independently from serum TC and also from other potential pre- and post-stroke prognostic factors. CONCLUSION: APOE epsilon3/epsilon4 genotype in men and APOE epsilon2/epsilon3 in women are associated with increased 30-day mortality in stroke. This effect seems be independent from serum cholesterol.