RESUMO
OBJECTIVE: To provide a unified description of an adolescent's experience of living with and dying of cancer. DESIGN: Qualitative analysis using phenomenological methods. SETTING: Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada. PATIENT: A 15-year-old boy who was diagnosed as having osteosarcoma in 2003 and died of his disease 1 year later. INTERVENTION: Analysis of his 90-page journal that spanned 3 months just before his death. MAIN OUTCOME MEASURES: Identification and clustering of key themes to capture the essence of his experience. RESULTS: Five main themes that surfaced during analysis of the journal were adolescent development, escape from illness, changing relationships, symptoms, and spirituality. CONCLUSION: A single case study can provide valuable information in a field such as pediatric palliative care in which the patient's perspective may be difficult to access or ascertain.
Assuntos
Atitude Frente a Morte , Neoplasias Ósseas/psicologia , Prontuários Médicos , Osteossarcoma/psicologia , Adolescente , Comportamento do Adolescente , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/terapia , Terapia Combinada , Progressão da Doença , Relações Familiares , Evolução Fatal , Humanos , Masculino , Estadiamento de Neoplasias , Osteossarcoma/diagnóstico , Osteossarcoma/terapia , Doente TerminalRESUMO
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers D9S129 and D9S1871. A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (VLDLR) gene was present in all affected individuals. VLDLR is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect.
