Browsing by Author "Vasconcelos, J."
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- ARTRO-RESSONÂNCIA MAGNÉTICA NA INSTABILIDADE GLENO-UMERAL: UMA REVISÃO DA TÉCNICA DE ABORDAGEM DIAGNÓSTICAPublication . França, M.; Fernandez, G.; Aguilar, J.; Tardáguila, G.; Velasco, M.; Vasconcelos, J.
- Caracterização das infeções em doentes com Síndrome de deleção 22q11.2Publication . Oliveira, M.; Teixeira, C.; Vasconcelos, J.; Neves, E.; Álvares, S.; Guedes, M.; Marques, L.RESUMO Introdução: O Síndrome de deleção 22q11.2 (SD22q11.2) tem uma incidência de 1/2000 a 1/7000 nados-vivos. Caracteriza-se por um grau variável de imunodeficiência que predispõe a infeções, nomeadamente sinopulmonares. Material e métodos: Estudo retrospetivo de 12 doentes, todos apresentando a del22q11.2 de novo, incidindo na caracterização imunológica e no tipo e número de infeções documentadas. Resultados: No que respeita aos estudos imunológicos, um doente apresentava linfopenia T grave e linfopenia B com hipogamaglobulinemia associadas a Síndrome de Evans; dois doentes linfopenia T ligeira transitória; seis linfopenia T ligeira/moderada persistente e três estudo imunológico normal. A incidência média de infeções foi 0.5/ano/doente (1.1/ano/doente abaixo dos três anos de idade). As mais documentadas foram otite média aguda, pneumonia e bronquiolite. Discussão: Encontrou-se um número baixo de infeções/ano/doente e estas ocorreram maioritariamente abaixo dos três anos de idade. As infeções sino-pulmonares foram as mais documentadas e a evolução geralmente benigna. O caráter transitório idade-dependente das alterações imunológicas e a normal função dos linfócitos, mais do que o grau de linfopenia T, parecem contribuir para este facto. ABSTRACT Background: The 22q11.2 deletion syndrome (SD22q11.2) has an incidence of 1/2000 to 1/7000 live births. It is characterized by a variable degree of immunodeficiency that predisposes to infections, especially sino-pulmonary. Material and Methods: A retrospective study of 12 patients with del22q11.2 de novo was performed, focusing on the immunological characteristics and the type and number of documented infections. Results: The immunological studies showed one patient had severe T lymphopenia T and B lymphopenia with hypogammaglobulinemia associated with Evans syndrome, two patients had transient mild T lymphopenia, six had mild to moderate persistent T lymphopenia and three presented a normal immunological study. The mean incidence of infections was 0,5/year/patient (1,1/year/patient under age three). The most frequent were acute otitis media, pneumonia and bronchiolitis. Discussion: There was a low number of infections/year/patient, and these occurred mostly under the age of three years. The sino-pulmonary infections were the most documented and the evolution was generally benign. The transient and age-dependent nature of the immunological changes and the normal immune cell function, rather than the degree of T lymphopenia appear to contribute to this fact.
- Chronic granulomatous disease as a risk factor for cutaneous lupus in childhoodPublication . Carvalho, S.; Machado, S.; Sampaio, R.; Guedes, M.; Vasconcelos, J.; Semedo, D.; Selores, M.Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.
- Correlação funcional e ecográfica no tratamento cirúrgico da coifa dos rotadores com seguimento superior a 5 anosPublication . Oliveira, V.; Silva, L.; Barreira, P.; Costa, L.; Araújo, J.; Ramos, J.; Vasconcelos, J.; Lourença, J.bjectivo: a reparação cirúrgica da coifa dos rotadores visa eliminar a dor e restaurar a função, com sucesso entre 5-90%. A dimensão da ruptura condiciona o resultado. Este estudo visa a eficácia do tratamento cirúrgico com o mínimo de 5 anos de seguimento e correlaciona resultado funcional com achados ecográficos. Material e Métodos: entre 2002 e 2007 o mesmo cirurgião realizou 166 suturas da coifa dos rotadores em 156 doentes. As ecografias pré e pós-operatórias foram sempre realizadas pelo mesmo radiologista. Retrospectivamente avaliou-se tipo de ruptura, cirurgia, sutura e material, complicações, dor (VAS), retorno laboral/atividades e inquirido o grau de satisfação. Completaram follow-up (FU) com avaliação funcional (Constant-Murley Score e UCLA Shoulder Score) e ecográfica 77 doentes, correspondendo a 87 rupturas. Resultados: A idade média foi 55,6 anos (22-77) com FU de 7,4 anos (5-11). Verificaram-se 145 (87,3%) rupturas completas sendo 14 (9,7%) maciças e 61 (42,1%) grandes. Realizaram-se 122 (73,5%) suturas artroscópicas, sendo 44 (26,5%) por mini-open. A avaliação funcional foi 72 (31-100) Constant Score e 29 (19-35) UCLA Score. O VAS foi 2,89 (0-8) com 29 (43,3%) doentes assintomáticos. Ocorreram 4 complicações (2,4%). Ecograficamente, verificou-se 29/87 (33,3%) re-rupturas, 32,3% artroscópicas e 40,1% abertas, lembrando que a sutura aberta foi usada em rupturas maiores. Retomaram atividades 95,5% dos doentes. Registou-se 100% de satisfação relativamente ao pré-operatório. Conclusão: este estudo reforça o impacto do tratamento cirúrgico na dor e verifica eficácia consistente se houver seleção criteriosa. A re-ruptura avaliada ecograficamente nem sempre se correlaciona com função, intervindo outros factores.
- Effects of Acupuncture on Leucopenia, Neutropenia, NK, and B Cells in Cancer Patients: A Randomized Pilot StudyPublication . Pais, I.; Correia, N.; Pimentel, I.; Teles, M.; Neves, E.; Vasconcelos, J.; Guimarães, J.; Azevedo, N.; Moreira-Pinto, A.; Machado, J.; Efferth, T.; Greten, H.Chemotherapy is one of most significant therapeutic approaches to cancer. Immune system functional state is considered a major prognostic and predictive impact on the success of chemotherapy and it has an important role on patients' psychoemotional state and quality of life. In Chinese medicine, chemotherapy is understood as "toxic cold" that may induce a progressive hypofunctional state of immune system, thus compromising the fast recovery of immunity during chemotherapy. In this study, we performed a standardized acupuncture and moxibustion protocol to enhance immunity in cancer patients undergoing chemotherapy and to assess if the improvement of immunity status correlates with a better psychoemotional state and quality of life.
- Inherited p40phox deficiency differs from classic chronic granulomatous diseasePublication . van de Geer, A.; Nieto-Patlán, A.; Kuhns, D.; Tool, A.; Arias, A.; Bouaziz, M.; de Boer, M.; Franco, J.; Gazendam, R.; van Hamme, J.; van Houdt, M.; van Leeuwen, K.; Verkuijlen, P.; van den Berg, T.; Alzate, J.; Arango-Franco, C.; Batura, V.; Bernasconi, A.; Boardman, B.; Booth, C.; Burns, S.; Cabarcas, .; Bensussan, N.; Charbit-Henrion, F.; Corveleyn, A.; Deswarte, C.; Azcoiti, M.; Foell, D.; Gallin, J.; Garcés, C.; Guedes, M.; Hinze, C.; Holland, S.; Hughes, S.; Ibañez, P.; Malech, H.; Meyts, I.; Moncada-Velez, M.; Moriya, K.; Neves, E.; Oleastro, M.; Perez, L.; Rattina, V.; Oleaga-Quintas, C.; Warner, N.; Muise, A.; López, J.; Trindade, E.; Vasconcelos, J.; Vermeire, S.; Wittkowski, H.; Worth, A.; Abel, L.; Dinauer, M.; Arkwright, P.; Roos, D.; Casanova, J.t; Kuijpers, T.; Bustamante, J.Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. When overexpressed in NB4 neutrophil-like cells and EBV-transformed B cells in vitro, the mutant alleles were found to be LOF, with the exception of the p.R58C and c.120_134del alleles, which were hypomorphic. Particle-induced NADPH oxidase activity was severely impaired in the patients' neutrophils, whereas PMA-induced dihydrorhodamine-1,2,3 (DHR) oxidation, which is widely used as a diagnostic test for chronic granulomatous disease (CGD), was normal or mildly impaired in the patients. Moreover, the NADPH oxidase activity of EBV-transformed B cells was also severely impaired, whereas that of mononuclear phagocytes was normal. Finally, the killing of Candida albicans and Aspergillus fumigatus hyphae by neutrophils was conserved in these patients, unlike in patients with CGD. The patients suffer from hyperinflammation and peripheral infections, but they do not have any of the invasive bacterial or fungal infections seen in CGD. Inherited p40phox deficiency underlies a distinctive condition, resembling a mild, atypical form of CGD.
- LINFOPENIA T CD4 NO LUPUS ERITEMATOSO SISTÉMICOPublication . Ferreira, S.; Vasconcelos, J.; Marinho, A.; Farinha, F.; Almeida, I.; Correia, J.; Barbosa, P.; Mendonça, T.; Vasconcelos, C.Abstract: Background: Systemic Lupus Erythematosus (SLE) is an inflammatory chronic disease characterized by the presence of autoantibodies, immunocomplex production and organ injury. Several alterations of the immune system have been described, namely of CD4 T cells, with particular focus on regulatory subgroup. Objective: Quantify peripheral CD4 T cells in a population of patients with SLE and correlate it with lupus activity, affected organs, therapeutics and infections. Methods: Retrospective study involving all SLE patients seen in the clinical immunology outpatient clinic of the Hospital Geral Santo António, Porto that has done some peripheral blood flow cytometry study. Results: Twenty-nine patients have been evaluated, 16 were taking glucocorticoids and six immunossupressors. The mean SLEDAI at the study time was nine and the ECLAM was three. Thirty-one percent of the patients had leukopenia, 76% lymphocytopenia and the same number CD4 depletion. Fifty-five percent of the patients had CD4 levels lower than 500/mm3, 31% lower than 200/mm3. All patients with SLEDAI ?20 and ECLAM ?4 had CD4 counts inferior to 500/mm3 and all patients with inactive disease had CD4 superior to 500/mm3. There have been three opportunistic infections: cryptococcal meningitis, pulmonary aspergilosis, Pneumocystis jirovecii pneumonia, all in patients with CD4 counts lower than 500/mm3. Conclusion: Decreased CD4 T cells counts have been very common in this study population. There is an inverse relation between CD4 cells counts and disease activity. Opportunistic infections occurred in patients with severe CD4 depletion. Keywords: Systemic Lupus Erythematosus; CD4 T Lymphocytes; Lymphocytopenia; SLE Activity; Opportunistic infections
- Mutations in STAT3 and IL12RB1 impair the development of human IL-17 – producing T cellsPublication . Beaucoudrey, L.; Puel, A.; Filipe-Santos, O.; Cobat, A.; Ghandil, P.; Chrabieh, M.; Feinberg, J.; Bernuth, H.; Samarina, A.; Jannière, L.; Fieschi, C.; Stéphan, J.; Boileau, C.; Lyonnet, S.; Jondeau, G.; Cormier-Daire, V.; Merrer, M.; Hoarau, C.; Lebranchu, Y.; Lortholary, O.; Chandesris, M.; Tron, F.; Gambineri, E.; Bianchi, L.; Rodriguez-Gallego, C.; Zitnik, S.; Vasconcelos, J.; Guedes, M.; Vitor, A.; Marodi, L.; Chapel, H.; Reid, B.; Roifman, C.; Nadal, D.; Reichenbach, J.; Caragol, I.; Garty, B.; Dogu, F.; Camcioglu, Y.; Gülle, S.; Sanal, O.; Fischer, A.; Abel, L.; Stockinger, B.; Picard, C.; Casanova, J.Abstract The cytokines controlling the development of human interleukin (IL) 17--producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17--producing T helper cells in vivo by quantifying the production and secretion of IL-17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF) beta, IL-1, IL-6, or IL-23 responses. Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17--producing T cells. These data suggest that IL-12Rbeta1- and STAT-3--dependent signals play a key role in the differentiation and/or expansion of human IL-17-producing T cell populations in vivo.