Browsing by Author "Teixeira, C."
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- 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.
- Défice selectivo de IgA – casuística de 6 anosPublication . Teixeira, C.; Cunha, J.; Lopes, I.; Soares, S.; Marques, L.Introdução: A deficiência selectiva de Imunoglobulina A (IgA) é a imunodeficiência primária mais frequente. Está associada a diversas patologias com diferentes apresentações, nomeadamente patologia infecciosa, alérgica, gastrointestinal, doenças auto-imunes e neoplásicas. Objectivo: Analisar as características clínicas e laboratoriais de crianças com défice de IgA seguidas no Hospital de Crianças Maria Pia. Material e Métodos: Análise retrospectiva de processos de crianças e adolescentes com défice selectivo de IgA, no período compreendido entre 1 de Janeiro de 2000 e 31 de Dezembro de 2005. Foram obtidos dados relativos ao sexo, idade do diagnóstico, patologia associada e parâmetros laboratoriais nomeadamente, doseamento de IgM, IgG e IgE, subclasses de IgG, presença de anticorpos antinucleares (ANAs), factor reumatóide (FR) e anticorpos específicos. Resultados: Foram avaliadas 50 crianças, sendo 56%(28) do sexo masculino. A mediana da idade de diagnóstico foi de 6 anos. As manifestações clínicas associadas foram infecções recorrentes das vias aéreas superiores em 50%(25), asma em 34%(17), rinite alérgica em 22%(11), pneumonia em 18%(9), giardíase em 6%(3), doença celíaca em 8%(4), e doenças auto-imunes em 8%(4). Na avaliação laboratorial, observaram-se níveis de IgG aumentados em 42%(21) dos casos. Discussão e Conclusão: Os resultados apresentados estão de acordo com outras séries publicadas. Este trabalho salienta a grande variabilidade de apresentação clínica do défice de IgA. O seu conhecimento permitirá um diagnóstico precoce e orientação adequada. ABSTRACT Introduction: Selective immunoglobulin A (IgA) deficiency is the most frequent primary immunodeficiency. It is associated with diverse pathologies with different presentations, namely infectious, allergic, gastrointestinal, auto-immune and neoplastic disorders. Objective: Analyse clinical and laboratorial characteristics of children with IgA deficiency attending Maria Pia Children’s Hospital. Matherial and Methods: Retrospective analysis of IgA deficient children and adolescent clinical files, in the period from the1st January 2000 until the 31st December 2005. We collected information on sex, age at diagnosis, associated diseases and laboratory data, namely IgM, IgG and IgE, IgG subclasses, presence of antinuclear antibodies, rheumatoid factor, and specifi c antibodies. Results: Fifty children were evaluated, 56%(28) of them were males. The median of age was 6 years. The associated clinical manifestations were recurrent upper airway infections in 50%(25), asthma in 34%(17), allergic rhinitis in 22%(11), pneumonia in 18%(9), Giardia infection in 6%(3), celiac disease in 8%(4), and autoimmune diseases in 8%(4). On laboratory evaluation, high IgG levels were observed in 42%(21) of cases. Discussion and Conclusion: The results presented are similar to other published series. This work points out that IgA deficiency has a great variability of clinical presentation. This knowledge will allow a rapid diagnosis and an adequate orientation.
- Deliriumin the ICU setting ‐ a subjective and theoretical survey before the implementation of the Confusion Assessment Method for the ICU in an unitPublication . Bragança, J. P.; Rodrigues, G.; Aragão, I.; Teixeira, C.; Quintaneiro, C.Background and Goal of Study: The current definition of delirium comprises acute change or fluctuation in mental status and inattention, accompanied by either altered level of consciousness or disorganized thinking. It is a frequent condition in the ICU and it is associated with longer hospital stay, increase in mortality at 6 months and long-term cognitive impairment, but remains under diagnosed. The Confusion Assessment Method for the Intensive Care Unit (CAM-ICU) has been validated and implemented in many ICUs and its use is recommended by the Society of Critical Care Medicine. It is our purpose to evaluate the individual perspective and the objective knowledge of our staf f about delirium before the implementation of the CAM-ICU. Materials and Methods: Anonymous survey to our ICU clinical staf f which contained subjective and ‘true or false’ questions. Data was analised with the sof tware SPSS version 17.0. The Wilcoxon test was used to compare autoperception of knowledge about delirium and the content of answers regarding its definiton. Results: Forty two questionnaires were returned (participation rate of 73%), 11 from physicians and 31 from nurses. Overall, 61,9% of inquiries think they can give a definition for delirium in the ICU and 50% claim to be able to evaluate delirium. 28,6% of the respondents - 63,6% of the physicians and 16,1% of the nurses - know the CAM-ICU. From these only a quarter has received education on this method, 75% think it’s easy to apply and 66% don’t see its use as an increase in the daily workload. We found a high rate of wrong and ‘I don’t know’ answers to questions about operationalization, diagnosis and outcome. The subjects’ auto-perception on their knowledge about delirium [Likert scale] was compared to their ability to answer questions related to its definiton - ‘attention deficit is essencial for diagnosis’ [true], Wilcoxon test Z=-4,699 (p< 0,001); ‘disorganized thinking is essential for diagnosis’ [false], Wilcoxon test Z=-4,437 (p< 0,001). Conclusions: The respondents’ auto perception of knowledge about delirium doesn’t translate in the ability of giving an appropriate definition and making an adequate evaluation. Most of the inquiries don’t know the CAM-ICU, but those who do believe it’s easy to apply and its use won’t increase the workload. We performed educational sessions about delirium and the CAM-ICU in our unit to encourage our clinical staf f to deal properly with this hazardous condition.
- DISTÚRBIOS PSÍQUICOS: BURNOUTPublication . Teixeira, C.
- First Trimester Aneuploidy Screening Program for Preeclampsia Prediction in a Portuguese Obstetric PopulationPublication . Teixeira, C.; Tejera, E.; Martins, H.; Pereira, A.; Costa-Pereira, A:; Rebelo, I.Objective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions. Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 to June 2013. Logistic regression-based predictive models were developed for prediction of PE based on maternal characteristics, crown-rump length (CRL), nuchal translucency thickness (NT), and maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (free β-hCG). Results. At a false-positive rate of 5/10%, the detection rate for early-onset (EO-PE) and late-onset (LO-PE) PE was 31.4/45.7% and 29.5/35.2%, respectively. Although both forms of PE were associated with decreased PAPP-A, logistic regression analysis revealed significant contributions from maternal factors, free β-hCG, CRL, and NT, but not PAPP-A, for prediction of PE. Conclusion. Our findings support that both clinical forms of EO-PE and LO-PE can be predicted using a combination of maternal history and biomarkers assessed at first trimester aneuploidy screening. However, detection rates were modest, suggesting that models need to be improved with additional markers not included in the current aneuploidy screening programs.
- First trimester aneuploidy screening program for preeclampsia prediction in a portuguese obstetric populationPublication . Teixeira, C.; Tejera, E.; Martins, H.; Pereira, A.; Costa-Pereira, A; Rebelo, IObjective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions. Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 to June 2013. Logistic regression-based predictive models were developed for prediction of PE based on maternal characteristics, crown-rump length (CRL), nuchal translucency thickness (NT), and maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (free β -hCG). Results. At a false-positive rate of 5/10%, the detection rate for early-onset (EO-PE) and late-onset (LO-PE) PE was 31.4/45.7% and 29.5/35.2%, respectively. Although both forms of PE were associated with decreased PAPP-A, logistic regression analysis revealed significant contributions from maternal factors, free β -hCG, CRL, and NT, but not PAPP-A, for prediction of PE. Conclusion. Our findings support that both clinical forms of EO-PE and LO-PE can be predicted using a combination of maternal history and biomarkers assessed at first trimester aneuploidy screening. However, detection rates were modest, suggesting that models need to be improved with additional markers not included in the current aneuploidy screening programs.
- Hábitos de exposição ao ecrã de uma população pediátrica de uma área urbanaPublication . Figueiredo, M.; Sousa, C.; Teixeira, C.; Pinto, F.Introdução: A televisão e outros meios audiovisuais podem ser benéficos mas o seu uso excessivo pode relacionar-se com alterações físicas e comportamentais. O tempo que crianças e adolescentes “perdem” em frente ao ecrã deveria preocupar pais e pediatras. Objectivos: Avaliação dos hábitos de exposição ao ecrã de uma população saudável de crianças e adolescentes. Material e métodos: Aplicação de questionário sobre hábitos de exposição ao ecrã, a pais de crianças e a adolescentes seguidos na consulta de Pediatria de um centro de saúde urbano. Resultados: Foram realizados 106 inquéritos. Aproximadamente 22% das crianças tinham mais de 2 anos quando começaram a ver televisão, cerca de 7% tinha uma televisão tendo as restantes duas ou mais, mais de metade tinha televisão no quarto, 64% tinha televisão no local onde eram feitas as refeições (88% tinham-na ligada enquanto comiam), 28% assistia menos de uma hora diária de televisão durante a semana (ao fim-de-semana esta percentagem diminuía para 4,7%). O tempo total de exposição ao ecrã contabilizava 2 ou mais horas em 54%. O tipo de programas mais visto era desenhos animados e telenovelas. Aproximadamente 32% passava menos de uma hora diária em actividade desportiva e 50% despendia menos de uma hora diária a ler. Conclusões: Na população estudada, verificou-se excesso de tempo lúdico preenchido com meios audiovisuais em detrimento de outras actividades. O conhecimento dos hábitos de exposição ao ecrã permite um reajuste da informação a dar aos pais na consulta de vigilância infantil. ABSTRACT Introduction: The television and the other audiovisual means may be useful but when in excess may be related to a wide range of alterations and/or behavioural problems. The time spent by children and adolescents in front of the TV should be a main concern of the parents as well as of the paediatrician. Objectives: To evaluate the television exposure habits of an healthy population of children and adolescents followed in an urban centre. Material and methodology: A questionary about the television exposure habits was applied to children’s parents and adolescents that were being followed through the paediatric consultation of the service of the Centro de Saúde da Carvalhosa. Results: 106 questionnaires were analyzed. Approximately 22% were more than 2 years old when they started watching TV, about 7% had one TV and the others had two or more, more than a half had a television in their bedrooms, 64% had the TV in the kitchen (88% said that during the meals the TV was on), 28% watched less than an hour a day during the week (during the weekend the percentage fell to 4.7%). The total time of exposure was equal or superior to two hours in 54%. The most popular programme was cartoons and soap operas. Approximately 32% spent less than one hour doing sports and 50% spent less than one hour per day reading. Conclusion: We concluded that this population spends too much time with these audiovisual means putting aside other activities. The knowledge of these television exposure habits allows an adjustment of information and help counselling parents during the regular paediatric visits.
- Nephrogenic diabetes insipidus associated with tenofovir administration: report of a paediatric casePublication . Costa, M.; Teixeira, C.; Costa, A.; Faria, M.; Mota, C.; Marques, L.Tenofovirrenal toxicity, particularly when associated with other antiretrovirals, has been reported in the adult HIV-positive population. Reports in HIVpositive children are very rare. The authors report a paediatric case of nephrotoxicity associated with tenofovir and didanosine, emtricitabine and lopinavirritonavir coadministration. A 12-year-old girl with AIDS (clinical stage C) with a multidrug-resistant virus and several treatment failures initiated emtricitabine, tenofovir, didanosine and lopinavir-ritonavir in 2008 with good tolerance. Her viral load became undetectable and CD4 count normal. Two years later she presented generalized weakness, polydipsia and polyuria. On physical examination dehydration was evident. Her vital signs were stable. She had lost 5% of her body weight in the previous week. Urinalysis revealed a urine gravity of 1000, osmolality 150 mOsm/Kg and no proteinuria or glucosuria. Blood analysis showed osmolality 289 mOsm/Kg, normal values of glucose, creatinine, urea, sodium, potassium, chloride and calcium. A water restriction test followed by desmopressin administration confirmed the diagnosis of nephrogenic diabetes insipidus. Tenofovir and didanosine were stopped and abacavir was added. The patient was treated with a thiazide diuretic and salt restriction. There was good clinical evolution and no relapses. This case highlights important possible side effects of tenofovir and emphasises the need for further studies into the renal safety of this agent in paediatric patients.
- Portuguese consensus document statement in diagnostic and management of atypical hemolytic uremic syndromePublication . Azevedo, A.; Faria, B.; Teixeira, C.; Carvalho, F.; Neto, G.; Santos, J.; Santos, M.; Oliveira, N.; Fidalgo, T.; Calado, J.Among thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independente discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.
- Pseudo-obstrução Intestinal – Caso ClínicoPublication . Teixeira, C.; Lima, R.; Ferreira, H.; Recamen, M.; Martins, E.; Ramos, A.; Oliveira, L.; Rocha, H.A Pseudo-obstrução intestinal é uma doença rara, causadora de grande morbilidade, defi nida pela presença de sinais e sintomas de oclusão intestinal, na ausência de obstrução mecânica. O prognóstico é muito variável, estando em parte relacionado com a doença subjacente. Os autores apresentam um caso de um lactente com pseudo-obstrução intestinal crónica de etiologia não esclarecida, com melhoria lenta mas progressiva da sintomatologia após realização de ileostomia e instituição de medicação procinética intestinal, tendo necessitado de nutrição parentérica total. Salienta-se deste caso a raridade da patologia, a difi culdade do seu diagnóstico, e a não existência de terapêuticas defi nidas como curativas, usando-se muitas vezes apenas tratamento conservador, com o intuito de diminuir a sintomatologia e promover o trânsito intestinal.