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1.
Am J Med Genet A ; 152A(7): 1774-80, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20583190

RESUMO

During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a true case of familial Huntington disease (HD) in which we modified personal details to protect patient's privacy, where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This article discusses the arguments for and against the right not to know of one's carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has served as a model for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient's right to "genetic ignorance", or the right not to know genetic information.


Assuntos
Genômica , Nível de Saúde , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Direitos do Paciente/ética , Diagnóstico Pré-Natal/ética , Adulto , Idade de Início , Tomada de Decisões , Ética Profissional , Feminino , Predisposição Genética para Doença , Guias como Assunto , Humanos , Doença de Huntington/epidemiologia , Fatores de Risco
2.
Int J Neurosci ; 63(3-4): 247-64, 1992 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-1304558

RESUMO

Event-related potentials (ERP's) to verbal and non-verbal auditory stimuli were recorded from normal-reading and from dyslexic children while performing a target-detection task ("oddball" paradigm). Two methods of analysis were used: (1) Peak latency and amplitude measures of P3 recorded from 3 midline electrodes; (2) P3 apex latency, amplitude and orientation in the three-channel Lissajous' trajectory (3CLT) derived from 3 orthogonal pairs of electrodes. P3 peak amplitude was significantly attenuated in dyslexic children compared to normal-reading children and in response to verbal stimuli compared to non-verbal stimuli. P3 apex latencies were longer and apex amplitudes larger in response to non-verbal compared to verbal stimuli. The most striking finding involved P3 apex orientation, which pointed in an upward-posterior direction with a slight tilt to the left among normal readers, but with a tilt to the right in dyslexics.


Assuntos
Dislexia/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Leitura , Estimulação Acústica , Criança , Eletrodos , Eletroencefalografia , Feminino , Humanos , Masculino , Desempenho Psicomotor/fisiologia , Tempo de Reação/fisiologia
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