The objective of this study was to assess whether clinical measures of rheumatoid arthritis activity and severity were influenced by tumor necrosis factor-alpha (TNF-α) promoter genotype/haplotype markers. Each patient's disease activity was assessed by the disease activity score using 28 joint counts (DAS28) and functional capacity by the Health Assessment Questionnaire (HAQ) score. Systemic manifestations, radiological damage evaluated by the Sharp/van der Heijde (SvdH) score, disease-modifying anti-rheumatic drug use, joint surgeries, and work disability were also assessed. The promoter region of the TNF-α gene, between nucleotides -1,318 and +49, was sequenced using an automated platform. Five hundred fifty-four patients were evaluated and genotyped for 10 single-nucleotide polymorphism (SNP) markers, but 5 of these markers were excluded due to failure to fall within HardyWeinberg equilibrium or to monomorphism. Patients with more than 10 years of disease duration (DD) presented significant associations between the -857 SNP and systemic manifestations, as well as joint surgeries. Associations were also found between the -308 SNP and work disability in patients with ACR = American College of Rheumatology; DAS28 = disease activity score using 28 joint counts; DD = disease duration; DMARD = disease-modifying anti-rheumatic drug; EM = expectation-maximization; ESR = erythrocyte sedimentation rate; HAQ = Health Assessment Questionnaire; NF-κB = nuclear factor-kappa-B; PCR = polymerase chain reaction; RA = rheumatoid arthritis; RF = rheumatoid factor; SNP = single-nucleotide polymorphism; SvdH = Sharp/van der Heijde; TNF-α = tumor necrosis factor-alpha.
Arthritis Research & TherapyVol 9 No 2 Fonseca et al.
Page 2 of 10(page number not for citation purposes) more than 2 years of DD and radiological damage in patients with less than 10 years of DD. A borderline effect was found between the -238 SNP and HAQ score and radiological damage in patients with 2 to 10 years of DD. An association was also found between haplotypes and the SvdH score for those with more than 10 years of DD. An association was found between some TNF-α promoter SNPs and systemic manifestations, radiological progression, HAQ score, work disability, and joint surgeries, particularly in some classes of DD and between haplotypes and radiological progression for those with more than 10 years of DD.
OBJECTIVE: To describe and compare imaging methods and clinical findings of cerebral venous thrombosis in four full-term neonates without brain damage, admitted to a neonatal intensive care unit. MATERIALS AND METHODS: Ten-year review of four cases diagnosed with cerebral venous thrombosis by transfontanellar ultrasonography associated with Doppler fluxometry and confirmed by magnetic resonance imaging/magnetic resonance angiography in correlation with clinical findings and neurological progression. RESULTS: Ultrasonography presented normal results in 75% of cases and magnetic resonance imaging in 100%. Doppler fluxometry and magnetic resonance angiography were abnormal in 100% of cases. Hypoxia (100%) and early seizures (100%) were predominant among clinical findings with evoked potential changes in 50% of cases. In the assessment of the neurodevelopment all the areas remained within normality parameters up to the conclusion of the present study. CONCLUSION: Ultrasonography in association with Doppler can identify changes related to cerebral venous thrombosis and should be complemented with magnetic resonance imaging that is the gold standard for diagnosis in these cases. Keywords: Cerebral venous thrombosis; Full-term neonates; Magnetic resonance imaging; Magnetic resonance angiography; Ultrasonography and Doppler.OBJETIVO: Descrever e comparar os métodos de imagem e os aspectos clínicos em quatro recém-natos a termo diagnosticados como trombose venosa cerebral, sem dano encefálico, adscritos a uma unidade de terapia intensiva neonatal. MATERIAIS E MÉTODOS: Revisão em 10 anos com quatro casos diagnosticados como trombose venosa cerebral por meio de ultrassonografia transfontanela com Doppler e confirmados por ressonância magnética/angiorressonância, correlacionados aos aspectos clínicos e evolução neurológica. RESULTADOS: A ultrassonografia foi normal em 75% dos casos e a ressonância magnética, em 100%. No caso alterado, a dilatação venosa foi identificada. O Doppler e a angiorressonância estavam alterados em 100% dos casos. Dos aspectos clínicos, a hipóxia (100%) e a convulsão precoce (100%) predominaram, com potencial evocado alterado em 50% dos casos. Na avaliação do neurodesenvolvimento, todas as áreas estiveram dentro da normalidade até a última avaliação. CONCLUSÃO: A ultrassonografia associada ao Doppler é capaz de identificar as alterações da trombose venosa cerebral, devendo ser complementada com a ressonância magnética, que é o padrão ouro de diagnóstico. Unitermos: Trombose venosa cerebral; Recém-nascidos a termo; Imagem por ressonância magnética; Angiorressonância; Ultrassonografia e Doppler.
AbstractResumo * Study developed at Casa de Saúde São José (CSSJ-RJ), Rio de Janeiro, RJ, Brazil.
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