ABSTRACT
Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early-onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier.
Subject(s)
Environment , Parkinson Disease/etiology , Parkinson Disease/genetics , Adolescent , Adult , Aged , Brazil/epidemiology , Chi-Square Distribution , Child , DNA Mutational Analysis , Female , Gene Frequency , Genotype , Humans , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Male , Middle Aged , Parkinson Disease/epidemiology , Polymorphism, Genetic/genetics , Protein Serine-Threonine Kinases/genetics , Ubiquitin-Protein Ligases/genetics , Young AdultABSTRACT
CONTEXTO: Dor é um dos sintomas físicos mais freqüentemente relatados por pacientes, causando importante redução na qualidade de vida do indivíduo. Pacientes com dor crônica são difíceis de tratar. OBJETIVO: Descrever estratégias atuais de abordagem de pacientes com dores crônicas, baseadas na literatura científica, enfatizando medidas relacionadas à espiritualidade e à religiosidade. MÉTODO: A presente revisão utilizou-se das atuais estratégias de manejo para pacientes com dor crônica combinadas a medidas medicamentosas e não-medicamentosas, estas geralmente incorporando medidas voltadas ao bem-estar físico, mental, social e espiritual com base em publicações indexadas pelo Medline. RESULTADOS: Muitos estudos demonstram associação positiva entre espiritualidade e religiosidade e melhora em variáveis e marcadores de doenças crônicas. CONCLUSÃO: Pelo fato de a religiosidade e a espiritualidade serem marcadamente relacionadas com a melhora clínica dos pacientes, é importante que o reconhecimento desses aspectos e a integração no manejo dos pacientes com dor crônica sejam conduzidos por profissionais da área de saúde.
BACKGROUND: Pain is one of the most common physical complaints which negatively affects the patients quality of life. Patients with chronic pain are difficult and often frustrating to treat. OBJECTIVE: To describe the current strategies for approaching patients with chronic pain based on scientific literature, emphasizing measures related to spirituality and religiosity. METHOD: For the present work, authors reviewed data supporting the application of clinical procedures regarding to chronic pain and palliative care with the importance of spirituality background incorporation based on indexed Medline data. RESULTS: Many studies have demonstrated a positive association between spirituality and religiosity and improvement of chronic diseases variables and markers. CONCLUSION: As religiosity and spirituality are notoriously related to the patients clinical improvement, it is highly important that the recognition of these aspects and their incorporation in the management of patients with chronic pain be conducted by health professionals.
