ABSTRACT
P-glycoprotein (Pgp), the ABCB1 gene product, acts as an efflux pump that transports a large variety of substrates and is a mechanism of cell protection against xenobiotics. An increasing number of studies have shown that some ABCB1 polymorphisms may affect Pgp expression and activity, as well as affecting the development and susceptibility to diseases and pharmacological response. High activity of Pgp has been detected in systemic lupus erythematosus (SLE) patients. The C1236T, G2677T/A, and C3435T are the most commonly studied single nucleotide polymorphisms in the ABCB1 gene. Therefore, their frequencies were determined in Brazilian individuals with European ancestry (N = 143) and in SLE patients (N = 137). Genotyping was performed by PCR-RFLP analysis using specific primers followed by incubation with the appropriate restriction enzymes. The resulting DNA fragments were visualized on agarose or polyacrylamide gels. No statistically significant differences were observed in allelic and genotypic frequencies between SLE and healthy subjects (Fisher exact test). Nevertheless, the 2677A allelic frequency was lower in SLE patients with malar rash (0.007) compared with patients without this feature (0.04; P = 0.0054), while the frequency of this variant was higher in SLE patients with pleuritis (0.07) compared with patients without this feature (0.01; P = 0.0156). We suggest that although the ABCB1 polymorphisms do not directly interfere in SLE susceptibility, their evaluation, especially the 2677A allele, in other immunological processes may be interesting since they can interfere in clinical features of this disease.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Lupus Erythematosus, Systemic/genetics , ATP Binding Cassette Transporter, Subfamily B, Member 1/genetics , Polymorphism, Single Nucleotide/genetics , Black People , Case-Control Studies , White People , Gene Frequency , Genotype , Polymerase Chain Reaction , Young AdultABSTRACT
The early demonstration of lung involvement in systemic lupus erythematosus (SLE) patients is a difficult but important task. In the present study we attempted to identify abnormalities in pulmonary clearance of 99mTc-DTPA in SLE, correlating their clearance data with clinical findings and disease activity. Forty-six consecutive SLE patients with and without active disease (LACC score) and 30 normal volunteers were studied. All subjects were submitted to pulmonary scintigraphy with 99mTc-DTPA to evaluate the pulmonary clearance, and to a chest X-ray, and SLE patients were submitted to tests of disease activity, spirometry, arterial blood gases and tests to assess acute-phase proteins. Pulmonary clearance was faster in SLE patients with active disease when compared to normal controls [half-life of 67.04 min (51.52-82.55 min) in active SLE versus 85.87 min (78.85-92.87 min) in controls, P<0.05] and there was a higher frequency of abnormal clearance rates in patients with active disease (11 of 26 patients, 42.3 percent) when compared with SLE patients without disease activity (2 of 20 patients, 10 percent) (P = 0.04). A significant correlation was observed between the clearance rates and cough (P<0.05), but not between the clearance rates and dyspnea symptoms or radiological findings, duration of SLE disease, antinuclear antibody titers and patterns, C-reactive protein or anti-double stranded DNA antibodies. We conclude that the pulmonary clearance of 99mTc-DTPA is increased in SLE patients with active disease
Subject(s)
Humans , Male , Female , Adult , Adolescent , Lung , Lupus Erythematosus, Systemic , Technetium Tc 99m Pentetate , Case-Control Studies , Lung , Metabolic Clearance Rate , Respiratory Function TestsSubject(s)
Adult , Middle Aged , Humans , Anti-Inflammatory Agents , Arthritis, Rheumatoid , AurothioglucoseABSTRACT
Os autores apresentam os criterios para o diagnostico da doenca de Paget em 42 pacientes, dos quais 13 do sexo masculino (31%) e 29 do feminino (69%), a maioria da raca branca (90%) e todos acuma de 50 anos de idade. Apenas 23 pacientes (56%) apresentaram-se sintomaticos, ou seja, dor ossea nos membros inferiores (54%) ou generalizada (46%), cefaleia, dores lombares ou cervicais, etc. A avaliacao radiologica revelou alteracoes osseas caracteristicas na bacia, coluna vertebral, femur e tibia pela ordem de frequencia. Verificou-se aumento da fosfatase alcalina em 75% dos pacientes e da hemossedimentacao em 94%, enquanto que em todos a dosagem serica do calcio e fosforo estava normal. Os autores valorizam a realizacao do exame otoneurologico e a utilizacao das determinacoes de fosfatase alcalina, hemossedimentacao,calcio e fosforo plasmaticos, hidroxiprolinuria, cintilografia ossea (e biopsia ossea quando indicada) como criterios diagnosticos na doenca de Paget
Subject(s)
Middle Aged , Humans , Male , Female , Osteitis DeformansABSTRACT
Sao estudados 50 pacientes com artrite reumatoide e outras doencas difusas do tecido conjuntivo em seus aspectos de deficiencia, incapacidade e invalidez. Encontramos importantes e severas repercussoes socias e economicas, com grande impacto psicologico advindo principalmente das relacoes de dependencia e da perda do emprego ou profissao. Enfantiza-se a necessidade premente do levantamento rotineiro de tais dificuldades visando o atendimento integral de tais pacientes particularmente nos aspectos de reabilitacao. Para tanto, sugerem os autores um modelo de entrevista que possibilite de forma rapida e razoavelmente completa ao medico a avaliacao dos aspectos socio-economico de seus pacientes
Subject(s)
Adolescent , Adult , Middle Aged , Humans , Male , Female , Arthritis, Rheumatoid , Disabled Persons , Work , Social SecurityABSTRACT
O presente trabalho tem por objetivo proporcionar ao medico generalista uma visao basica do sistema de histocompatibilidade humana e sua aplicacao clinica. Os autores relatam alguns principios imunogeneticos e a utilidade da tipagem do sistema HLA no diagnostico de diversas artropatias, citando tres casos de sua experiencia pessoal como ilustracao
Subject(s)
HLA Antigens , Joint DiseasesABSTRACT
Foram estudadas por meio de imunofluorescencia direta trinta e nove biopsias de pele normal de pacientes portadores de colagenoses. Procuramos observar, em nosso meio a correlacao entre depositos de imunoglobulinas e/ou complemento na juncao dermo-epidermica e o diagnostico de Lupus Eritematoso Sistemico. Foi possivel verificar a alta especificidade e sensibilidade do metodo no diagnostico diferencial dessa colagenose. Concluem os autores ressaltando o importante auxilio no diagnostico que esse procedimento pode proporcionar
Subject(s)
Fluorescent Antibody Technique , Lupus Erythematosus, Systemic , BiopsyABSTRACT
Os autores relatam o caso de um paciente de 29 anos que se apresentou com quadro articular e muscular nitido e manifestacoes sistemicas escassas, tendo sido tratado durante varios meses por problema reumatologico. Com a investigacao verificou-se que se tratava de um reticulossarcoma de apresentacao rara, envolvendo primariamente os ossos e nao as estruturas linfoides usuais. Fez-se o diagnostico diferencial com displasia fibroma, metaplasia mieloide agnogenica, doenca de Paget e polimiosite