Browsing by Author "Conde, M"
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- Catastrophic antiphospholipid syndrome: first signs in the neonatal periodPublication . Cabral, M; Abadesso, C; Conde, M; Almeida, HI; Carreiro, HThe term "catastrophic" antiphospholipid syndrome (CAPS) is used to define a subset of the antiphospholipid syndrome (APS) characterized by the clinical evidence of three or more organ involvement by thrombotic events in a short period of time and with laboratory confirmation of the presence of antiphospholipid antibodies. We describe a male infant first admitted at 17 days old for necrotizing enteritis complicated by cardiac and renal failure. Because of progressive renal function deterioration, a renal biopsy was performed at 8 months old, and histopathologic examination was compatible with renal venous thrombosis. Laboratory searching for vascular, prothrombotic, and metabolic disease was negative. Five months later, he developed two different episodes (20-day range) of ischemic stroke. Genetic test for thrombophilic conditions was positive for two different mutations, and repeatedly high titers of lupus anticoagulant, anticardiolipin, and anti-β2glicoprotein I antibodies were found. He was treated successfully with anticoagulants and showed a favorable clinical evolution. To the best of our knowledge, this is the youngest patient reported with probable CAPS. Although rare, APS/CAPS in the neonatal period or in the first year of life must be suspected in infants presenting with thrombotic phenomena. The present case illustrates the importance of an early diagnosis and treatment to enhance possibilities of survival.
- Factores de risco para complicações e sequelas de meningites bacterianasPublication . Ferreira, M; Mendes, C; Janeiro, P; Conde, M; Aguiar, T; Brito, MJIntrodução: A meningite bacteriana é uma infecção potencialmente grave, associada a complicações e sequelas a longo prazo. Objectivo: Caracterizar a meningite bacteriana em doentes internados num Hospital Geral, na Zona Metropolitana de Lisboa, e avaliar eventuais factores de risco para o prognóstico. Métodos: Revisão casuística, entre Junho de 1996 e Dezembro de 2005. Realizou-se análise descritiva dos dados demográficos, clínicos, laboratoriais e evolução e regressão logística. Significância estatística para p<0,05. Resultados: Verificou-se um total de 107 casos com um predomínio (49.5%) em crianças com menos de dois anos de idade. Em 40% dos casos havia antecedentes de doença crónica. Noventa e oito por cento estavam vacinados para o Haemophilus influenzae b, 2,8% para o pneumococo e 3,8% para o meningococo C. O diagnóstico etiológico foi realizado em 66 (61,7%) dos casos: Neisseria meningitidis (32), Streptococcus pneumoniae (22), Streptococcus agalactiae (4), Haemophilus influenzae (3) e outros (5). Ocorreram complicações em 27 (25%) doentes (com mais de uma complicação em 13) e sequelas em 30 (14%). Faleceu uma criança. As complicações associaram-se de forma independente ao Streptococcus pneumoniae (p=0,006), glicorráquia <30mg/dL (p=0,011) e sépsis concomitante (p=0,014) e as sequelas também com o Streptococcus pneumoniae (p=0,026) e glicorráquia <30mg/dL (p=0,029). Conclusão: Dos factores de risco o único potencialmente modificável é a infecção pelo pneumococo. A introdução de imunizações específicas, alterando os agentes etiológicos em causa, podem vir a diminuir complicações e sequelas nesta patologia.
- Juvenile systemic lupus erythematosus in Portugal: clinical and immunological patterns of disease expression in a cohort of 56 patientsPublication . Cabral, M; Escobal, C; Conde, M; Ramos, M; Gomes, JObjective: To define the pattern of disease expression and to gain better understanding in patients with juvenile onset systemic lupus erythematosus (SLE) in Portugal. Methods: The features of unselected patients with systemic lupus erythematosus who had disease onset before the age of 18 years were retrospectively analysed in three Portuguese centres with Pediatric Rheumatology Clinic over a 24-year period (1987-2011). Demographic, clinical and laboratory manifestations, therapy and outcome were assessed. Results: A cohort of 56 patients with a mean age at di- sease onset of 12.6±4.04 years (mean±1SD) (range, 1.0- -17.0 years) and a mean period of follow-up of 5.5±5.4 years. Forty six (82.1%) patients were female. The most common disease manifestations were musculoskeletal (87.5%), mucocutaneous (80.3%) and haematological abnormalities (75%). Lupus nephritis was diagnosed in 46.4% of patients and consisted of glomerular ne - phritis in all cases. Neuropsychiatric manifestations occurred in 21.4% but severe central nervous system complications were uncommon, as brain infarcts and organic brain syndrome in 4 (7.1%) patients. Antinuclear antibodies and anti-double stranded DNA were positive in most patients in (98.2% and 71.4% respec- tively), as well as low C3 and/or C4 were observed frequently (85.7%). Generally, most patients had a good response to therapy as demonstrated by a significant decreasing of SLEDAI score from disease presentation to the last evaluation. The SLEDAI at diagnosis, the maximum SLEDAI and the incidence of complications were significantly higher in patients with neurolupus and/or lupus nephritis. Therapy included oral steroids (87.5%), hydroxychloroquine (85.7%), azathioprine (55.4%), IV cyclophosphamide (28.6%) along with other drugs. Six (10.7%) patients were treated with rituximab. Long-term remission was achieved in 32%, disease was active in 68%, adverse reactions to therapy occurred in 53.6% and complications/severe manifestations in 23.2%. Two patients died, being active disease and severe infection the causes of death. Conclusions: This study suggests that in our patients the clinical and laboratory features observed were similar to juvenile systemic lupus erythematosus patients from other series. Clinical outcome was favourable in the present study. Complications from therapy were frequent. Objective: To define the pattern of disease expression and to gain better understanding in patients with juvenile onset systemic lupus erythematosus (SLE) in Portugal. Methods: The features of unselected patients with systemic lupus erythematosus who had disease onset before the age of 18 years were retrospectively analysed in three Portuguese centres with Pediatric Rheumatology Clinic over a 24-year period (1987-2011). Demographic, clinical and laboratory manifestations, therapy and outcome were assessed. Results: A cohort of 56 patients with a mean age at di- sease onset of 12.6±4.04 years (mean±1SD) (range, 1.0-17.0 years) and a mean period of follow-up of 5.5±5.4 years. Forty six (82.1%) patients were female. The most common disease manifestations were musculoskeletal (87.5%), mucocutaneous (80.3%) and haematological abnormalities (75%). Lupus nephritis was diagnosed in 46.4% of patients and consisted of glomerular nephritis in all cases. Neuropsychiatric manifestations occur red in 21.4% but severe central nervous system complications were uncommon, as brain infarcts and organic brain syndrome in 4 (7.1%) patients. Antinuclear antibodies and anti-double stranded DNA were positive in most patients in (98.2% and 71.4% respectively), as well as low C3 and/or C4 were observed frequently (85.7%). Generally, most patients had a good response to therapy as demonstrated by a significant decreasing of SLEDAI score from disease presentation to the last evaluation. The SLEDAI at diagnosis, the maximum SLEDAI and the incidence of complications were significantly higher in patients with neurolupus and/or lupus nephritis. Therapy included oral steroids (87.5%), hydroxychloroquine (85.7%), azathioprine (55.4%), IV cyclophosphamide (28.6%) along with other drugs. Six (10.7%) patients were trea- ted with rituximab. Long-term remission was achieved in 32%, disease was active in 68%, adverse reactions to therapy occurred in 53.6% and complications/severe manifestations in 23.2%. Two patients died, being active disease and severe infection the causes of death. Conclusions: This study suggests that in our patients the clinical and laboratory features observed were similar to juvenile systemic lupus erythematosus patients from other series. Clinical outcome was favourable in the present study. Complications from therapy were frequent.
- kawasaki disease in a young infant: diagnostic challengesPublication . Cabral, M; Correia, P; Brito, MJ; Conde, M; Carreiro, HKawasaki disease (KD) is a multisystem vasculitis condition with a relatively unknown etiology. It has a high prevalence in children ages 6 months to 5 years, and patients often present with high fever, rash, cervical lymphadenopathy and mucocutaneous abnormalities. Visceral manifestations can be present, being coronary complications the most frequent. There is no diagnostic test for KD, its presentation can be complete or incomplete and, in some cases, it can be atypical. We report a case of a 3-month-old infant with 3-weeks of fever and aseptic meningitis. Infectious diseases were excluded and there was no response to antibiotics. Echocardiography was normal in the second week. Genetic test for CINCA syndrome was negative. In the third week, dilatation of coronary arteries determined Kawasaki disease’s diagnosis. Prolonged fever, accompanied by nonspecific clinical symptoms were the only manifestations, becoming a challenging diagnosis. KD must be considered when prolonged fever is present, mainly in young children in whom the incomplete forms of the disease are more frequent.
- Parvovirus B19 Associated Systemic Lupus Erythematosus in a Child with Sickle Cell Disease; a Diagnostic and Therapeutic ChallengePublication . Cabral, M; Dias, A; Abadesso, C; Conde, M; Ferreira, M; Gomes, J; Carreiro, HAlthough sickle cell disease (SCD) and systemic lupus erythematosus (SLE) are two distinct and relatively common chronic diseases, coexistence of these two conditions in the same patient appears to be rare. The authors report an eight-year-old child with SCD who developed a severe form of parvovirus B19-associated SLE, with secondary severe immune hemolytic anemia related to drugs, Libman-Sacks endocarditis complicated by severe aortic regurgitation, dilated left ventricle with impaired function and myocardial ischemia, with further decompensation culminating in cardiac arrest during an infectious intercurrence, which led inevitably to death. This patient displayed a broad spectrum of musculoskeletal, hematologic and cardiovascular complications, which could be associated with either SCD or SLE. Conclusion: Because of a substantial overlap between the clinical manifestations of these two disorders, the diagnosis of SLE in a patient with a previous known diagnosis of SCD may be difficult and is often delayed. Our report illustrates the importance of considering other disease processes, like autoimmune diseases when clinical features or its evolution are atypical of SCD and emphasizes some of the diagnostic difficulties encountered during the diagnosis and management of these patients.
- Protracted Febrile Myalgia Syndrome with Henoch-Schönlein Purpura: an atypical presentation of Familial Mediterranean FeverPublication . Cabral, M; Conde, M; Brito, MJ; Almeida, HI; Gomes, JA Febre Mediterrânica Familiar (FMF) é uma doença hereditária autossómica recessiva caracterizada por episódios de febre recorrente, artrite e poliserosite – peritonite, pleurite e/ou pericardite. A sua principal complicação é a amiloidose AA sistémica. Menina de 8 anos, origem africana, com febre recorrente desde os 5 anos e três internamentos com febre, dor abdominal e elevação dos reagentes de fase aguda. No primeiro episódio foi sujeita a apendicectomia e no terceiro o quadro clínico acompanhou-se de mialgias, púrpura e proteinúria não nefrótica. A biopsia renal foi compatível com nefrite de Henoch-Schönlein. Durante os episódios de febre e dor abdominal registou-se um nível sérico de amilóide A - 92 mg/L (VR < 6.8) que levantou a suspeita de FMF. Posteriormente o diagnóstico foi confirmado por estudo genético (homozigotia para M694V no gene MEFV). Iniciou colchicina e actualmente encontra-se em remissão completa. A FMF deve ser considerada no diagnóstico diferencial de febre e dor abdominal recorrente na criança, mesmo quando a forma de apresentação é atípica (p.e. Protracted Febrile Myalgia Syndrome). O estudo genético permite confirmar o diagnóstico e tem valor em termos de prognóstico
- RSV infection – Risk factors, complications and treatment in two Portuguese hospitalsPublication . Bento, V; Machado, R; Ferreira, M; Conde, M; Carreiro, H; Ferreira, G; Brito, MJAbstract. The aim of this study was to characterize the infection by respiratory syncytial virus (RSV), identify risk factors, complications and compare treatment strategies in children admitted to two Portuguese hospitals. It was a retrospective study performed between January 2005 and December 2006. Demographic and socioeconomic data, risk factors, treatment, compli- cations and medical follow-up were analyzed. A total of 328 children were studied (135 from Hospital Dona Estefˆania and 193 from Hospital Fernando Fonseca), about half (52.7%) being male, with a mean age of 5 months. 41% of the patients were from a poor socioeconomic context, 55.8% had older siblings, 32.2% had smoking parents and 11.3% had reactive airway disease. Complications occurred in 76.1% of the patients, namely, hypoxemia (63.5%), secondary bacterial infection (26.5%), atelectasis (11.5%), respiratory failure (10%) and apnea (2.4%). Most of the patients (92.3%) were treated with bronchodilators, 69% had oxygen supplementation, 45% were on antibiotics and 31% were treated with systemic corticosteroids. Ten percent needed mechanical ventilation. Twenty-seven (8.2%) children developed reactive airway disease. Having older siblings (63.1% vs. 49.3% P = 0.05) and being newborn (32.7% vs. 16.5% P = 0.006) resulted as risk factors for complications, while the risk factors identified for bacterial infection were having older siblings (71.4% vs. 55.7%; P = 0.013) and being from a poor socioeconomic context (64.7% vs. 47.6%; P = 0.017). The treatment strategies differed in the two hospitals (Hospital Fernando Fonseca vs. Hospital Dona Estefˆania) regarding the use of systemic corticosteroids (1.6% vs. 73.3%, P = 0.000) and antibiotics (39.4% vs. 52.6%; P = 0.011). RSV infections can result in serious complications. According to the current knowledge, most of the therapeutic measures carried out in this study were probably unnecessary. It is important to establish clear national guidelines for the treatment of RSV infection.
- Síndrome linfoproliferativo A autoimunePublication . Rodrigues, V; Conde, M; Figueiredo, A; Vasconcelos, J; Dias, AA Síndrome Linfoproliferativo Autoimune (ALPS) é um defeito na apoptose dos linfócitos, com linfoproliferação crónica não maligna, linfadenomegalias e/ou esplenomegalia. São descritos os casos clínicos de dois rapazes de sete e 14 anos. O primeiro inicia aos três anos, febre, bicitopénia e linfadenopatias generalizadas e histologia ganglionar com hiperplasia folicular reactiva e hiperplasia paracortical. Reinternamento aos seis anos por herpes zoster e quadro clínico semelhante. Aumento dos níveis circulantes de IL-10 e uma tendência de aumento de Fas-L no plasma e soro. O segundo caso refere-se a um rapaz internado aos 13 anos por celulite da coxa e região glútea, anemia e neutropenia. Linfócitos T αβ+CD4-CD8- 3,1%. Biópsia ganglionar com hiperplasia paracortical. Ambas as crianças medicadas com micofenolato de mofetil com boa resposta. A ALPS é uma entidade diagnóstica subestimada que deve ser considerada perante linfoproliferação não maligna, autoimunidade e expansão anormal da população α/βCD3+CD4-CD8- (double-negative T cells>1%).