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1.
Braz J Med Biol Res ; 36(7): 919-23, 2003 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12845379

RESUMEN

The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2 frequency was considerably lower in the Alzheimer's disease group (1%), and the epsilon3 allele and epsilon3/epsilon3 genotype frequencies were higher in the controls (84 and 72%, respectively) as were the epsilon4 allele and epsilon3/epsilon4 genotype frequencies in Alzheimer's disease (25 and 41%, respectively). The higher frequency of the epsilon4 allele in Alzheimer's disease confirmed its role as a risk factor, while epsilon2 provided a weak protection against development of the disease. However, in view of the unexpectedly low frequency of the epsilon4 allele, additional analyses in a more varied Brazilian sample are needed to clarify the real contribution of apolipoprotein E to the development of Alzheimer's disease in this population.


Asunto(s)
Enfermedad de Alzheimer/genética , Apolipoproteínas E/genética , Demencia Vascular/genética , Polimorfismo Genético , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Factores de Riesgo
2.
Braz. j. med. biol. res ; 36(7): 919-923, July 2003. tab
Artículo en Inglés | LILACS | ID: lil-340681

RESUMEN

The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2 frequency was considerably lower in the Alzheimer's disease group (1 percent), and the epsilon3 allele and epsilon3/epsilon3 genotype frequencies were higher in the controls (84 and 72 percent, respectively) as were the epsilon4 allele and epsilon3/epsilon4 genotype frequencies in Alzheimer's disease (25 and 41 percent, respectively). The higher frequency of the epsilon4 allele in Alzheimer's disease confirmed its role as a risk factor, while epsilon2 provided a weak protection against development of the disease. However, in view of the unexpectedly low frequency of the epsilon4 allele, additional analyses in a more varied Brazilian sample are needed to clarify the real contribution of apolipoprotein E to the development of Alzheimer's disease in this population


Asunto(s)
Humanos , Masculino , Femenino , Anciano , Apolipoproteínas E , Demencia Vascular , Polimorfismo Genético , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Genotipo , Reacción en Cadena de la Polimerasa , Factores de Riesgo
3.
Rev Soc Bras Med Trop ; 34(4): 389-93, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11562736

RESUMEN

Two polymerase chain reaction (PCR) protocols showed low sensitivity (36% and 53% for TB AMPLICOR and MPB64 nested PCR, respectively), when compared with classic microbiological methods (73% and 54% for Ziehl-Neelsen staining and culture, respectively), in the diagnosis of tuberculous meningitis in 91 patients in southeastern Brazil. Only three PCR-positive, microbiologically negative patients were found. Analysis of sequential cerebrospinal fluid samples by nested PCR detected Mycobacterium tuberculosis DNA up to 29 days after the introduction of antituberculosis chemotherapy.


Asunto(s)
Reacción en Cadena de la Polimerasa , Tuberculosis Meníngea/diagnóstico , Brasil , Humanos , Estudios Prospectivos , Sensibilidad y Especificidad
4.
Rev. Soc. Bras. Med. Trop ; 34(4): 389-393, jul.-ago. 2001. tab
Artículo en Inglés | LILACS | ID: lil-461925

RESUMEN

Two polymerase chain reaction (PCR) protocols showed low sensitivity (36% and 53% for TB AMPLICOR and MPB64 nested PCR, respectively), when compared with classic microbiological methods (73% and 54% for Ziehl-Neelsen staining and culture, respectively), in the diagnosis of tuberculous meningitis in 91 patients in southeastern Brazil. Only three PCR-positive, microbiologically negative patients were found. Analysis of sequential cerebrospinal fluid samples by nested PCR detected Mycobacterium tuberculosis DNA up to 29 days after the introduction of antituberculosis chemotherapy.


Exames coproparasitológicos realizados em 191 crianças de creches e em 434 alunos da primeira à quarta série das áreas urbana e rural da rede municipal de Rolândia, PR, evidenciaram enteroparasitas em prevalência de 15,2% nas creches e de 52,5% entre os escolares. Fatores de risco são discutidos.


Asunto(s)
Humanos , Reacción en Cadena de la Polimerasa , Tuberculosis Meníngea/diagnóstico , Brasil , Estudios Prospectivos , Sensibilidad y Especificidad
5.
Arq Neuropsiquiatr ; 59(2-B): 362-4, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11460180

RESUMEN

A study of the teratogenic activity of an antiepileptic drug - lamotrigine - was carried out in the brain of fetuses of rats who had received the drug. The dosage levels studied corresponded to four times the median effective dose (ED50) in rats. The drug was administered during the organogenesis period. Rats were sacrificed one day prior to term and fetuses were macroscopically examined, weighted and cephalic segments sectioned (Wilson technique), for histological study by stereological analysis, using Merz's grid for drawing and point counts. Cortex, subcortex, ependyma and lateral ventricles were analyzed. The same methodology was applied to the control group; data were compared with by the non-parametric Mann-Whitney statistical analysis test. Results showed that fetuses of the experimental group had reduced body weight at birth, increased volume and diameter of the cerebral structure, increased density of the subcortical layer, and ventricle dilatation. Possible mechanisms of this teratogenicity were discussed.


Asunto(s)
Anomalías Inducidas por Medicamentos , Anticonvulsivantes/efectos adversos , Encéfalo/anomalías , Feto/anomalías , Triazinas/efectos adversos , Animales , Femenino , Lamotrigina , Embarazo , Ratas
7.
Arq Neuropsiquiatr ; 45(1): 53-9, 1987 Mar.
Artículo en Portugués | MEDLINE | ID: mdl-3300614

RESUMEN

A case of Creutzfeldt-Jakob disease (CJD) in a 76 year-old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs; death occurred after about 4 months. There was an antecedent of chemical trauma caused by plant liquid on right eye 12 to 18 months before. The electroencephalogram showed diffuse slow activity and the neuropathological findings were typical. The detection of a protein called "prion" or PrP27-30 in the scrapie and the finding that some proteins isolated from brain of patients with CJD have reacted with antibodies raised against it have improved the knowledge about the infectious agent. The recent reports of young patients with CJD after human growth hormone therapy prepared from pools of pituitary glands obtained at autopsy are alarming and probably new cases will be described.


Asunto(s)
Corteza Cerebral/patología , Síndrome de Creutzfeldt-Jakob/patología , Anciano , Síndrome de Creutzfeldt-Jakob/fisiopatología , Síndrome de Creutzfeldt-Jakob/transmisión , Humanos , Masculino , Degeneración Nerviosa , Priones/patogenicidad
8.
Arq Neuropsiquiatr ; 43(3): 296-302, 1985 Sep.
Artículo en Portugués | MEDLINE | ID: mdl-3937512

RESUMEN

A case of sarcosporidiosis in a 29 year-old woman is presented. The clinical picture showed a definitive myopathic pattern with symmetrical proximal weakness of shoulder and pelvic girdle and also weakness on neck flexors; the facial muscles were intact and she denied dysphagia. The histological findings after a muscle biopsy obtained from left deltoid muscle showed many round cysts within the muscle fibres without any surrounding inflammatory reaction. The cysts diameters varied from 30 to 500 micra and the length from 300 micra to 3 millimeter (Miescher's tube). The radially striated membrane could be seen in some cysts but there was some doubt because it could represent the remaining of the peripheral muscle fibre. We could not find spores inside the cysts. Besides the largest cysts there were muscle fibre hypertrophy. The authors concluded on the diagnosis of sarcosporidiosis because of the presence, diameter and length of cysts; some remarks are made on the only other parasite that could be confused with Sarcocystis sp: Toxoplasma gondii.


Asunto(s)
Enfermedades Musculares/patología , Sarcocistosis/patología , Adulto , Biopsia , Femenino , Humanos , Músculos/parasitología , Músculos/patología , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/parasitología , Sarcocystis/crecimiento & desarrollo , Sarcocistosis/diagnóstico , Sarcocistosis/parasitología
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