Browsing by Author "Santos, MJ"
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- Artropatia dos joelhos como manifestação inicial de neoplasia pulmonarPublication . Inês, L; Santos, MJ; Silva, C; Braña, A; Nour, D; Reis, P; Malcata, AB; Porto, AApresentamos o caso de uma doente de 46 anos que recorreu ao serviço de urgência por dor e tumefacção dos joelhos com 3 meses de evolução. Na subsequente observação em Reumatologia identificou--se a presença de baqueteamento digital nas mãos e pés (com cerca de 1 ano de evolução) e edema dos membros inferiores. As radiografias dos ossos longos demonstraram a presença de periostose. A investigação de causas de osteoartropatia hipertrófica secundária revelou a existência de uma neoplasia pulmonar volumosa, que não apresentou no exame clínico quaisquer manifestações respiratórias.
- Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencyPublication . Ribeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, MLeigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
- Identifying Patient Candidates for IL-1 Inhibition: Lessons From Real-World CasesPublication . Avram, A; Duarte, C; Santos, MJ; Papagoras, C; Ritis, K; Scarpioni, R; Schmidt, W; Skendros, PA subgroup of patients with gouty arthritis have a chronic recurring form that is particularly difficult to treat. Such patients experience repeated flares and often have abundant tophi. Many also have underlying comorbidities, such as renal impairment, cardiovascular disease, gastrointestinal disorders, obesity, and hypertension, which contraindicate the use of standard anti-inflammatory medications. Five patients with difficult to treat gouty arthritis who were either candidates and/or treated with anti-IL therapy are described.
- Mitochondrial-dependent apoptosis in Huntington's disease human cybridsPublication . Ferreira, IL; Nascimento, MV; Ribeiro, MH; Almeida, S; Cardoso, SM; Grazina, M; Pratas, J; Santos, MJ; Januário, C; Oliveira, CR; Rego, ACWe investigated the involvement of mitochondrial-dependent apoptosis in Huntington's disease (HD) vs. control (CTR) cybrids, obtained from the fusion of human platelets with mitochondrial DNA-depleted NT2 cells, and further exposed to 3-nitropropionic acid (3-NP) or staurosporine (STS). Untreated HD cybrids did not exhibit significant modifications in the activity of mitochondrial respiratory chain complexes I-IV or in mtDNA sequence variations suggestive of a primary role in mitochondrial susceptibility in the subpopulation of HD carriers studied. However, a slight decrease in mitochondrial membrane potential and increased formation of intracellular hydroperoxides was observed in HD cybrids under basal conditions. Furthermore, apoptotic nuclei morphology and a moderate increase in caspase-3 activation, as well as increased levels of superoxide ions and hydroperoxides were observed in HD cybrids upon 3-NP or STS treatment. 3-NP-evoked apoptosis in HD cybrids involved cytochrome c and AIF release from mitochondria, which was associated with mitochondrial Bax translocation. CTR cybrids subjected to 3-NP showed increased mitochondrial Bax and Bim levels and the release of AIF, but not cytochrome c, suggesting a different mode of cell death, linked to the loss of membrane integrity. Additionally, increased mitochondrial Bim and Bak levels, and a slight release of cytochrome c in untreated HD cybrids may help to explain their moderate susceptibility to mitochondrial-dependent apoptosis
- Recomendações Portuguesas para utilização de Metotrexato no tratamento de doenças reumáticasPublication . Canhão, H; Santos, MJ; Costa, L; Bogas, M; Mourão, AF; Machado, P; Fonseca, JE; Pereira da Silva, JAOBJECTIVES: To develop Portuguese evidence-based recommendations for the use of methotrexate (MTX) in daily clinical practice in rheumatic disorders. METHODS: The Portuguese project was integrated in the multinational 3E Initiative (Evidence, Expertise, Exchange) 2007-2008 where a total of 751 rheumatologists from 17 countries have participated. Ten clinical questions concerning the use of MTX in rheumatic diseases were formulated and the Portuguese group added three more questions. A systematic literature search in Medline, Embase, Cochrane Library and 2005-2007 ACR/EULAR meeting abstracts was conducted. Selected articles were systematically reviewed and the evidence was appraised according to the Oxford Levels of Evidence. In Portugal, a national meeting was held in Obidos on February 15th and 16th, 2008, involving 50 rheumatologists who discussed and voted by Dephi method the recommendations. Finally, the agreement among the rheumatologists and the potential impact on their clinical practice was assessed. RESULTS: Thirteen national key recommendations on the use of MTX were formulated: work-up before starting MTX, optimal dosage and route of administration, use of folic acid, monitoring, management of hepatotoxicity, long-term safety, mono versus combination therapy, management in the peri-operative period, during infections, before/during pregnancy and after clinical remission, screening and treatment of tuberculosis and the role of MTX as a steroid-sparing agent in rheumatic diseases. DISCUSSION: The Portuguese recommendations for the use of MTX in daily clinical practice were developed, which are evidence-based and supported by a panel of 50 rheumatologists, enhancing their validity and practical use. This project was integrated in a multinational initiative that led to the recent publication of ten multinational recommendations which differ from ours in some specific aspects.
- Undifferentiated connective tissue disease: a seven-center cross-sectional study of 184 patientsPublication . Vaz, CC; Couto, M; Medeiros, D; Miranda, L; Costa, J; Nero, P; Barros, R; Santos, MJ; Sousa, E; Barcelos, A; Inês, LThe purpose of this study was to characterize the clinical and serological features of a large cohort of patients with antinuclear antibody (ANA) positive undifferentiated connective tissue disease (UCTD). Consecutive patients with UCTD, followed up at the Rheumatology Clinic of the participating centers, were included. Data from these patients were obtained by clinical evaluation and chart review. All patients were diagnosed as having UCTD on basis of the following criteria: positive ANA plus at least one clinical feature of connective tissue disease, but not fulfilling classification criteria for any differentiated connective tissue disease. One hundred eighty-four patients were studied (female patients-94.5%; mean age at time of evaluation-47 years). The most prevalent manifestations were arthralgia (66%), arthritis (32%), Raynaud's phenomenon (30%), sicca symptoms (30%), and leukopenia (19%). The prevalence of ANA was 100%, anti-SSA 20%, anti-dsDNA 14%, and anti-SSB 7%. Patients with anti-dsDNA/anti-Sm, anticentromere/anti-Scl70, or anti-SSA/anti-SSB antibodies more frequently presented a set of manifestations close to systemic lupus erythematosus (SLE), systemic sclerosis, or Sjögren syndrome, respectively. We analyze a large cohort of UCTD. Seventy-two percent of these UCTD patients present lupus-, scleroderma-, or Sjögren-like features but do not fulfill classification criteria and mostly present a mild disease.
- Using the Juvenile Arthritis Disease Activity Score based on erythrocyte sedimentation rate or C-reactive protein level: results from the Portuguese registerPublication . Mourão, AF; Santos, MJ; Melo-Gomes, J; Martins, FM; Costa, JA; Ramos, F; Brito, I; Duarte, C; Figueira, R; Figueiredo, G; Furtado, C; Lopes, A; Oliveira, M; Rodrigues, A; Salgado, M; Sousa, M; Branco, J; Fonseca, JE; Canhão, HOur aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) categories and to check the correlation between JADAS27-ESR and clinical JADAS27 (JADAS27 without ESR).