ABSTRACT
Fibromyalgia syndrome (FS) is a rheumatic syndrome affecting to 2-3% of individuals of productive age, mainly women. Neuroendocrine and genetic factors may play a significant role in development of the disease which is characterized by diffuse chronic pain and presence of tender points. Several studies have suggested an association between FS, especially pain sensitivity, and polymorphism of the catechol-O-methyltransferase (COMT) gene. The aim of the present study was to characterize the SNPs rs4680 and rs4818 of the COMT gene and assess its influence in pain sensitivity of patients with fibromyalgia screened by the Fibromyalgia Impact Questionnaire (FIQ). DNA was extracted from peripheral blood of 112 patients with fibromyalgia and 110 healthy individuals and was used as template in PCR for amplification of a 185-bp fragment of the COMT gene. The amplified fragment was sequenced for analyses of the SNPs rs4680 and rs4818. The frequency of mutant genotype AA of SNP rs6860 was 77.67% in patients with FS and 28.18% for the control group. For the SNP rs4818, the frequency of mutant genotype CC was 73.21 and 39.09% for patients with FS and controls, respectively. Moreover, the FIQ score was higher in patients with the homozygous mutant genotype for SNPs rs4680 (87.92 points) and rs4818 (86.14 points). These results suggest that SNPs rs4680 and rs4818 of the COMT gene may be associated with fibromyalgia and pain sensitivity in FS Brazilian patients.
Subject(s)
Catechol O-Methyltransferase/genetics , Fibromyalgia/genetics , Musculoskeletal Pain/genetics , Pain Threshold , Adult , Brazil/epidemiology , Female , Fibromyalgia/epidemiology , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Musculoskeletal Pain/epidemiology , Pain Threshold/physiology , Polymorphism, Single Nucleotide/geneticsABSTRACT
Objetivo: O objetivo foi avaliar portadores de distrofia muscular de Duchenne (DMD) e Becker (DMB) por meio de escalas e análise postural. Metodologia: Foram avaliados 13 pacientes, idade 16,75 (± 6,9) sendo 9 DMD, 4 DMB, 7 cadeirantes, 6 não cadeirantes, nas escalas: Índice de Barthel e EK (Egen klassifikation). A avaliação postural sentada foi feita no software SAPO. Resultados: Os dados revelam que: aumento da idade (p<0.01), dependência de cadeira de rodas (p<0.01) e uso de ventilador (p<0.01) indicaram menor independência. Na avaliação postural tanto dos não cadeirantes quanto dos cadeirantes, verificou-se que aumentam os agrupamentos nos cadeirantes, remetendo às limitações impostas pela postura. Conclusão: Esses achados mostram que pacientes com DMD e DMB têm sua funcionalidade e atividades de vida diária debilitadas com o avanço da idade, dependência de cadeira de rodas e uso de ventilador. Assim, associação de escalas com avaliações convencionais e análise postural são ferramentas essenciais para a investigação.
Objective: The objective was to evaluate patients with Duchenne muscular dystrophy (DMD) and Becker (BMD) in scales and postural analysis. Methods: We evaluated 13 patients, age 16.75 (± 6.9) and 9 DMD, BMD 4, 7 wheelchair, wheelchair not 6, on the scales: Barthel Index and EK (Egen Klassifikation). The evaluation was performed in sitting posture software SAPO. Results: Data show that: increasing age (p <0.01), dependence on a wheelchair (p <0.01) and use of ventilator (p <0.01) showed less independence. Postural assessment of both the wheelchair and not the wheelchair, it was found that increase in the wheelchair groups, referring to the restrictions imposed by posture. Conclusion: These findings show that patients with DMD and BMD have its functionality and activities of daily living impaired with advancing age, dependence on a wheelchair and ventilator use. Thus, association of scales with conventional assessments and postural analysis are essential tools for research.
