Browsing by Author "Neves, E."
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- ALERGIA ALIMENTAR: FISIOPATOLOGIA IMUNEPublication . Neves, E.
- AVALIAÇÂO DE UMA NOVA TÉCNICA DE QUIMIOLUMINESCÊNCIA PARA DETERMINAÇÃO DE ANTICORPOS ANTI-DSDNAPublication . Carneiro, P.; Figueiras, O.; Lima, S.; Neves, E.; Cerveira, C.Introdução A determinação dos anticorpos anti-dsDNA é um teste de grande importância para o diagnóstico e monitorização de doentes com Lúpus Eritematoso Sistémico (LES), fazendo parte dos critérios de classificação de LES do ACR. (American College of Rheumathology). Existem actualmente vários métodos laboratoriais disponíveis, que respondem de forma desigual na determinação destes anticorpos nos doentes, em diferentes fases de evolução da patologia. Objectivo Avaliar o desempenho do novo método automatizado de determinação dos anticorpos anti-dsDNA por técnica de quimioluminescência (CLIA), Zenit RA dsDNA (Menarini), comparando-o com os métodos de imunofluorescência indirecta (IFI) e fluoroimunoensaio (FEIA), utilizados na rotina assistencial no Serviço de Imunologia do CHP. Material e Métodos A população estudada incluiu 151 amostras seriadas de doentes com LES, 33 doentes com doença infecciosa, 28 doentes com outras patologias com envolvimento autoimune e 38 indivíduos saudáveis. Realizou-se a determinação dos anticorpos anti-dsDNA por técnica CLIA no equipamento ZENIT RA (Menarini), por técnica FEIA no equipamento ImmunoCAP 250 (Phadia) e por IFI em lâminas de Crithidia luciliae (BioRad) processadas no aparelho PhD (BioRad). Resultados Todos os testes apresentaram uma baixa sensibilidade nos doentes com LES (33,1% a 44,4%), traduzindo o facto de um grande número de doentes se encontrar em tratamento e com fraca actividade da doença. O teste CLIA apresentou uma especificidade semelhante à da IFI (93,9% vs. 95,6%), superior à observada no FEIA (85,9%). Conclusões O teste dsDNA ZENIT RA revelou uma sensibilidade inferior ao FEIA mas uma melhor especificidade e valor preditivo positivo, semelhantes aos observados na técnica de IFI. Sendo um teste totalmente automatizado e sem a subjectividade da IFI, será agora importante a sua avaliação numa população com critérios de actividade bem definidos.
- 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.
- 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.
- Importance of immunogenicity testing for cost-effective management of psoriasis patients treated with adalimumabPublication . Mota, F.; Neves, E.; Oliveira, J.; Selores, M.; Torres, T.INTRODUCTION: Up to 30% of patients treated with anti-tumor necrosis factor drugs do not respond adequately, and up to 50% lose response over time. Immunogenicity is now known to be one of the main causes of this loss of response. METHODS: Serum levels of adalimumab and anti-drug antibodies (ADAs) were measured in 19 patients with psoriasis. RESULTS: Eighty-nine percent of the patients were responders (Psoriasis Area Severity Index (PASI) > 75) and 11% were partial responders (PASI 50-75). The serum levels of adalimumab were lower than the cutoff in both of the partial responders and the ADAs were high, whereas the other 17 patients had adalimumab levels above the cutoff and low ADA levels. Both partial responders were obese and none of them were taking methotrexate. Both patients switched to ustekinumab, and a PASI 90 response was observed after 16 weeks. CONCLUSION: Immunogenicity is a risk of biological drugs. In this work, the detection of low levels of adalimumab and high levels of ADAs using a sandwich ELISA correlated with loss of clinical response. Testing immunogenicity and the drug pharmacokinetics of biological drugs in psoriasis patients will probably be part of the daily management of these patients in the future.
- 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.
- Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcomePublication . Fernandes, I.; Sampaio, R.; Moreno, F.; Palla-Garcia, J.; Teixeira, M.; Freitas, I.; Neves, E.; Jara-Acevedo, M.; Escribano, L.; Lima, M.BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown. CASE PRESENTATION: A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. CONCLUSIONS: To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.