RESUMEN
While end-of-life (EOL) care has been a relatively common option for patients with terminal cancer, the utilization of EOL care in Alzheimer disease and other dementias has become available more recently. By the time end-stage dementia is present, the clinicians and caregivers become faced with multiple clinical issues-their inability to provide subjective complaints of pain and discomfort, behavioral symptoms, delirium, food refusal, and so on. In addition to providing quality EOL care to the patients, clinicians need to work with their families in an open and empathic manner, assuring that their loved ones will receive supportive measures to keep them comfortable.
Asunto(s)
Enfermedad de Alzheimer/complicaciones , Familia/psicología , Calidad de la Atención de Salud/organización & administración , Cuidado Terminal/organización & administración , Agresión/psicología , Comunicación , Toma de Decisiones , Trastornos de Deglución/etiología , Delirio/etiología , Emociones , Empatía , Humanos , Manejo del Dolor/métodosRESUMEN
"Fierce" mice, homozygous for the deletion of nuclear receptor 2E1 (NR2E1), show abnormal brain-eye development and pathological aggression. To evaluate functional equivalency between mouse and human NR2E1, we generated mice transgenic for a genomic clone spanning the human NR2E1 locus and bred these animals to fierce mice deleted for the corresponding mouse gene. In fierce mutants carrying human NR2E1, structural brain defects were eliminated and eye abnormalities ameliorated. Excitingly, behavior in these "rescue" mice was indistinguishable from controls. Because no artificial promoter was used to drive transgene expression, promoter and regulatory elements within the human NR2E1 clone are functional in mouse. Normal behavior in rescue animals suggests that mechanisms underlying the behavioral abnormalities in fierce mice may also be conserved in humans. Our data support the hypothesis that variation at NR2E1 may contribute to human behavioral disorders. Use of this rescue paradigm with other genes will permit the direct evaluation of human genes hypothesized to play a causal role in psychiatric disease but for which evidence is lacking or equivocal.