RESUMO
Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.
Assuntos
DNA Mitocondrial/genética , Doença por Corpos de Lewy/genética , Mutação/genética , Doença de Parkinson/genética , Idoso , Idoso de 80 Anos ou mais , Encéfalo/metabolismo , Análise Mutacional de DNA , Feminino , Humanos , Microdissecção e Captura a Laser , Doença por Corpos de Lewy/patologia , Masculino , Pessoa de Meia-Idade , Neuroglia/patologia , Neurônios/patologia , Doença de Parkinson/patologiaRESUMO
Children with potentially severe health conditions such as cerebral palsy (CP) are at risk for unmet health care needs. We sought to determine whether children with CP had significantly greater unmet health care needs than children with other special health care needs (SHCN), and whether conditions associated with CP increased the odds of unmet health care needs. We analyzed data from the National Survey of Children with Special Health Care Needs, 2005-2006, using multivariate logistic regression to calculate the adjusted odds of children with CP having one or more unmet health care needs compared to children with other SHCN. We also determined the association of CP-related conditions with unmet health care needs in children with CP. After weighting to national averages, our sample represented 178,536 children with CP (1.9%), and 9,236,794 with children with other SHCN (98.1%). Although having CP increased the odds that children had unmet health care needs (OR = 1.46, 95% CI [1.07-1.99]), the presence of a "severe" health condition weakened the association. Gastrointestinal problems and emotional problems increased the odds that children with CP would have unmet health care needs above that of children without the associated conditions (p ≤ .01). Children with CP are similar to children with other SHCN and may benefit from collaborative programs targeting severe chronic conditions. However, children with CP and associated conditions have increased odds of unmet health care needs in comparison to children without those problems.