Resumo Introdução: A fibromialgia (FM) é uma síndrome de origem desconhecida caracterizada por diversos sintomas, e embora sua patogênese não tenha sido completamente elucidada, parece estar relacionada às vias inflamatórias e alterações neuroquímicas no cérebro. Objetivo: Avaliar a associação entre os polimorfismos BsmI, ApaI e FokI do gene do receptor da vitamina D (VDR), seus polimorfismos e variáveis clínicas em mulheres com e sem FM. Métodos: Trata-se de um estudo caso-controle composto por um grupo de 53 mulheres com FM e outro com 40 mulheres sem a doença. Foram aplicados o Questionário de Dor de McGill, Questionário de Impacto da Fibromialgia, Escala Visual Analógica da Dor e o teste de sentar. A PCR em tempo real foi realizada para analisar o polimorfismo ApaI e FokI. Resultados: Houve associação estatística entre raça, comorbidade e FM, onde 78,4% dos indivíduos eram brancos e apresentavam FM (p < 0,002) e 96,1% tinham alguma comorbidade (p < 0,001). Setenta e seis vírgula cinco por cento (76,5%) dos pacientes com FM tiveram desempenho inferior no teste de abdominais (p < 0,001). Também houve associação entre as frequências genotípicas e alélicas dos polimorfismos Apal e FokI do gene VDR e FM (p < 0,001). No polimorfismo ApaI do gene VDR, o genótipo CC apresentou maior frequência em mulheres com FM, o alelo C para o polimorfismo Apal foi 3,33 vezes mais provável, e o polimorfismo FokI teve 10,9 vezes mais chance de desenvolver FM (p < 0,0001). Conclusão: Mulheres com alelo C para polimorfismo ApaI têm 3,33 vezes mais chance de ter FM (IC 95% = 1,58-7,02; p = 0,0024), e no polimorfismo FokI, a prevalência do alelo T é 10,9 vezes maior (IC 95% = 4,76-25,38; p < 0,0001). Não foram encontradas associações significativas em relação ao polimorfismo BsmI e alelos de frequência (p = 0,062 e p = 0,078, respectivamente).

Abstract Introduction: Fibromyalgia (FM) is a syndrome of unknown origin characterized by several symptoms, and although its pathogenesis has not been completely elucidated, it seems to be related to inflammatory path-ways and neurochemical changes in the brain. Objective: To evaluate the association between BsmI, ApaI and FokI polymorphisms of the vitamin D receptor (VDR) gene, their polymorphisms, and clinical variables in women with and without FM. Methods: This is a case-control study composed of a group of 53 women with FM and another with 40 women without the disease. The McGill Pain Questionnaire, Fibromyalgia Impact Questionnaire, Pain Visual Analogue Scale and the sit-up test were applied. Real-time PCR was performed to analyze the ApaI and FokI polymorphism. Results: There was a statistical association between race, comorbidity and FM, where 78.4% of the individuals were white and had FM (p < 0.002) and 96.1% had some comorbidity (p < 0.001). Seventy-six point five percent (76.5%) of patients with FM underperformed in the sit-up test (p < 0.001). There was also an association between the genotypic and allele frequencies of the VDR and FM gene Apal and FokI polymorphisms (p < 0.001). In the VDR gene ApaI polymorphism, the CC genotype exhibited a higher frequency in women with FM, the C allele for the Apal polymorphism was 3.33 times more likely, and the FokI polymorphism was 10.9 times more likely to develop FM (p < 0,0001). Conclusion: Women with C allele for ApaI polymorphism are 3.33 times more likely to have FM (95%CI = 1.58-7.02; p = 0.0024), and in FokI polymorphism, the prevalence of T allele is 10.9 times greater (95% CI = 4.76-25.38; p < 0.0001). No significant associations were found in relation to BsmI polymorphism and frequency alleles (p = 0.062 and p = 0.078, respectively).

Abstract Background: Fibromyalgia (FM) is a chronic pain syndrome characterized by generalized skeletal muscle chronic pain. Its etiology is not well defined, because there are several factors that may trigger it such as physical and/or emotional stresses, or a genetic susceptibility, involving serotonergic, dopaminergic and catecholaminergic paths. The objective of this study was to investigate the association between the strength of the lower limb, genetic polymorphism of the serotonin receptor gene HTR2a in women with fibromyalgia. Methods: In this observational study of case-control type 48 women were evaluated who belonged to the group with FM (52 ± 12 years) and 100 women in the control group (58±11 years). Socio demographic and anthropometric data were collected and peripheral blood samples for DNA extraction; genotypic analyzes were performed by means of PCR in real time by TaqMan® system. The lower limb muscle strength was assessed through the test of sitting down and standing up for 30 s. The chi-square test or Fischer Exact was used for possible associations among the variables; the t-test for independent samples was used to compare the averages among the groups; the value of significance adopted was 5%. Results: There was an association between the polymorphism of the HTR2A gene with FM, demonstrating that carriers of the genotype GG have 24.39 times more likely to develop the syndrome (IC95% 5.15-115.47; p = 0.01). It was observed an association between FM and the test to sit and stand up demonstrating that women with fibromyalgia have lower limb muscle strength ( p = 0.01). The study showed that the white race has 3.84 times more likely to develop FM (p = 0.01). Conclusion: The results of this study suggest that women of Caucasian ethnicity with GG genotype or G allele presented greater risk of developing fibromyalgia and that these patients have lower limb muscle strength compared to the control group.

Resumo Objetivo: Comparar os resultados de identificação de estruturas cerebrais utilizando imagens volumétricas isotrópicas por ressonância magnética, nas aquisições T1 GRE e T1 IR GRE. Materiais e métodos: Foram avaliados 120 blocos de imagens, de 30 indivíduos, com imagens extraídas dos hemisférios cerebrais esquerdo e direito, pelos dois métodos de aquisição: T1 GRE e T1 IR GRE. Com base no método de Naidich et al. para localização dos referenciais anatômicos, 27 estruturas anatômicas foram classificadas em duas categorias - identificável versus deixam dúvidas quanto à identificação somadas às não identificáveis - para análises de repetitividade (intraobservador) e reprodutibilidade (interobservadores). Foi utilizado o teste de McNemar para a avaliação do desempenho entre os dois métodos. Resultados: Após confirmação de ter havido boa concordância na análise intraobservador e interobservadores (kappa médio > 0,60), a avaliação das imagens de cada referencial anatômico, testada entre T1 GRE e T1 IR GRE pelo teste de McNemar, indicou maior frequência de referenciais identificáveis pelo método T1 IR GRE do que pelo método T1 GRE. Conclusão: O método de imagem T1 IR GRE apresentou desempenho levemente superior, porém estatisticamente significante, em relação ao método T1 GRE, na identificação dos referenciais anatômicos cerebrais.

Abstract Objective: To compare brain structures using volumetric magnetic resonance imaging with isotropic resolution, in T1-weighted gradient-echo (GRE) acquisition, with and without inversion recovery (IR). Materials and methods: From 30 individuals, we evaluated 120 blocks of images of the left and right cerebral hemispheres being acquired by T1 GRE and by T1 IR GRE. On the basis of the Naidich et al. method for localization of anatomical landmarks, 27 anatomical structures were divided into two categories: identifiable and inconclusive. Those two categories were used in the analyses of repeatability (intraobserver agreement) and reproducibility (interobserver agreement). McNemar's test was used in order to compare the T1 GRE and T1 IR GRE techniques. Results: There was good agreement in the intraobserver and interobserver analyses (mean kappa > 0.60). McNemar's test showed that the frequency of identifiable anatomical landmarks was slightly higher when the T1 IR GRE technique was employed than when the T1 GRE technique was employed. The difference between the two techniques was statistically significant. Conclusion: In the identification of anatomical landmarks, the T1 IR GRE technique appears to perform slightly better than does the T1 GRE technique.

OBJETIVO: Os autores mostram sua experiência com cavernomas de tronco cerebral, comparando seus dados com os de uma revisão da literatura. MÉTODOS: De 1998 a 2009, 13 pacientes com cavernoma de tronco cerebral foram submetidos a ressecção cirúrgica. Todos os filmes, prontuários e imagens foram revisados para exposição dos dados mais importantes, como epidemiologia, detalhes clínicos, achados radiológicos e resultados cirúrgicos, bem como as principais complicações. RESULTADOS: A média de idade foi de 42,4 anos (variação de 19 a 70). Não houve predominância de gênero na taxa masculino versus feminino, 6:7. Os casos pontinos foram os mais frequentes. Ressonância nuclear magnética foi o método de imagem para o diagnóstico de cavernomas em todos os casos. A média do acompanhamento foi de 71,3 meses (variação de 1 a 138 meses). A apresentação clínica mais frequente foi a paresia do VIII nervo craniano, tinitus e perda auditiva (69,2%). Todos os 13 pacientes com cavernomas de tronco sintomáticos foram submetidos à ressecção cirúrgica. A remoção total foi realizada em 11 pacientes. A morbidade e a mortalidade foram de 15,3 e 7,6%, respectivamente. CONCLUSÃO: Os cavernomas podem ser seguramente ressecados por meio de acessos cirúrgicos ideais (zonas de entrada seguras) e técnicas de microcirurgia, sendo que o objetivo é remover toda a lesão sem o comprometimento dos nervos cranianos.

OBJECTIVE: The authors show their experience with brainstem cavernomas, comparing their data with the ones of a literature review. METHODS: From 1998 to 2009, 13 patients harboring brainstem cavernomas underwent surgical resection. All plain films, medical records and images were reviewed in order to sample the most important data regarding epidemiology, clinical picture, radiological findings and surgical outcomes, as well as main complications. RESULTS: The mean age was 42.4 years (ranging from 19 to 70). No predominant gender: male-to-female ratio, 6:7. Pontine cases were more frequent. Magnetic resonance imaging was used as the imaging method to diagnose cavernomas in all cases. The mean follow-up was 71.3 months (range of 1 to 138 months). Clinical presentation was a single cranial nerve deficit, VIII paresis, tinnitus and hearing loss (69.2%). All 13 patients underwent resection of the symptomatic brainstem cavernoma. Complete removal was accomplished in 11 patients. Morbidity and mortality were 15.3 and 7.6%, respectively. CONCLUSIONS: Cavernomas can be resected safely with optimal surgical approach (feasible entry zone) and microsurgical techniques, and the goal is to remove all lesions with no cranial nerves impairment.