Browsing by Author "Cardoso, H."
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- Baixa estatura e haploinsuficiência do gene SHOXPublication . Costa, M.; Magalhães, J.; Ferreira, S.; Rocha, M.; Ribeiro, L.; Oliveira, M.; Cardoso, H.; Borges, T.Introdução: A haploinsuficiência do gene SHOX (short stature homeobox gene) é uma das causas genéticas mais frequentes de baixa estatura isolada ou familiar, cuja gravidade clínica pode ser muito variável. Caso Clinico: Os autores descrevem uma adolescente de 14 anos, com membros curtos e baixa estatura. A radiografia do punho demonstrou deformidade de Madelung. O estudo molecular revelou a deleção do gene SHOX (FISH del (X) (Xp22.3Xp22.3) (SHOX). Um exame físico cuidadoso assume extrema importância na avaliação clínica de baixa estatura. A deformidade de Madelung pode surgir apenas na adolescência. O tratamento com Hormona de Crescimento pode aumentar a estatura final. Discussão/conclusões: A prevalência de baixa estatura por mutações do gene SHOX parece ser semelhante ao défice de hormona de crescimento e Síndroma de Turner. O objetivo dos autores foi chamar a atenção sobre esta entidade clínica não muito conhecida, que pode ter implicações terapêuticas com um diagnóstico atempado.
- Endocrinology in Portugal - Census 2016. Board of the Portuguese College of Endocrinology and Nutrition of the Portuguese Medical AssociationPublication . Guimarães, J.; Afonso, A.; Carvalho, D.; Marques, A.; Martins, T.; Mascarenhas, M.; Pereira, C.; Rodrigues, D.; Saraiva, C.; Cardoso, H.INTRODUCTION: On September 2016, the Board of the College of Endocrinology and Nutrition of the Portuguese Medical Association carried out a national survey, about all Endocrinology, Diabetes and Metabolism Departments of the public hospitals included in the Portuguese National Health Service and a simplified version of this survey was sent to all endocrinologists working in Portugal and registered with the Portuguese Medical Association. MATERIAL AND METHODS: Data related to organizational and human resources were collected, reporting the situation by the end of year 2015. The census registered 107 individuals and 27 Departments. RESULTS: The ratio of endocrinologists-population was 1.4, much lower than in the other European countries (varies between 2 to 4), resulting in alarming shortages of services in some areas of Portugal and in worse quality indicators. DISCUSSION: These data suggest that actions should be taken to increase the number of endocrinologists and departments in the country. CONCLUSION: In recent years, the number of residents has significantly increased, which will make it possible to correct this situation
- Hiperplasia da Supra-renal Complicada de Puberdade Precoce Central – Caso ClínicoPublication . Bandeira, A.; Cardoso, H.; Borges, T.RESUMO Algumas crianças com hiperplasia da supra-renal com instituição tardia da terapêutica e/ou má aderência ao tratamento desenvolvem puberdade precoce central por maturação precoce do eixo hipotálamo-hipófise. Os autores apresentam um caso clínico de uma criança, do sexo masculino, com 5 anos e 9 meses de idade, que é referenciada à consulta por pubarca precoce. O estudo efectuado revelou tratarse de uma hiperplasia da supra-renal, forma não clássica, pelo que iniciou tratamento com hidrocortisona e mineralocorticóide. Cerca de um ano após início da terapêutica, desencadeou puberdade precoce central, com aumento do volume testicular e aumento nos níveis de FSH e LH, pelo que foi associada à terapêutica o análogo da hormona libertadora das gonadotrofinas (GnRH). Os autores pretendem com este caso clínico alertar para a necessidade do diagnóstico atempado e orientação da puberdade precoce, uma vez que a instituição rápida de terapêutica permite uma evolução mais favorável, menor comprometimento da estatura final e menor incidência de morbilidade associada.
- Optimism on quality of life in Portuguese chronic patients: moderator/mediator?Publication . Vilhena, E.; Pais-Ribeiro, J.; Silva, I.; Pedro, L.; Meneses, R.; Cardoso, H.; Martins-Silva, A.; Mendonça, D.OBJECTIVE: optimism is an important variable that has consistently been shown to affect adjustment to quality of life in chronic diseases. This study aims to clarify if dispositional optimism exerts a moderating or a mediating influence on the personality traits-quality of life association, in Portuguese chronic patients. METHODS: multiple regression models were used to test the moderation and mediation effects of dispositional optimism in quality of life. A sample of 729 patients was recruited in Portugal's main hospitals and completed self-reported questionnaires assessing socio-demographic and clinical variables, personality, dispositional optimism, quality of life (QoL) and subjective well-being (SWB). RESULTS: the results of the regression models showed that dispositional optimism did not moderate the relationships between personality traits and quality of life. After controlling for gender, age, education level and severity of disease perception, the effects of personality traits on QoL and in SWB were mediated by dispositional optimism (partially and completely), except for the links between neuroticism/openness to experience and physical health. CONCLUSION: dispositional optimism is more likely to play a mediating, rather than a moderating role in personality traits-quality of life pathway in Portuguese chronic patients, suggesting that "the expectation that good things will happen" contributes to a better quality of life and subjective well-being.
- O Papel dos Testes de Estimulação Farmacológica no Diagnóstico da Deficiência de Hormona do Crescimento em Crianças e AdolescentesPublication . Gonçalves, J.; Correia, F.; Cardoso, H.; Borges, T.; Oliveira, M.INTRODUCTION: The incidence of short stature associated with growth hormone deficiency has been estimated to be about 1:4000 to 1:10000. It is the main indication for treatment with recombinant growth hormone. OBJECTIVES: The aims of the study were to evaluate the results of growth hormone stimulation tests and identify the growth hormone deficiency predictors. MATERIAL AND METHODS: A cross-sectional, analytical and observational study was conducted. We studied all the children and adolescents submitted to growth hormone pharmacological stimulation tests between January 2008 and May 2012. Growth hormone deficiency diagnosis was confirmed by two negatives growth hormone stimulation tests (growth hormone peak < 7 ng/ml). The statistical analysis was performed using student t-test, chi-square, Pearson correlation and logistic regression. Statistical significance determined at the 5% level (p ≤ 0.05). RESULTS: Pharmacological stimulation tests were performed in 89 patients, with a median age of 10 [3-17] years. Clonidine (n = 85) and insulin tolerance test (n = 4) were the first growth hormone stimulation tests performed. Growth hormone deficiency was confirmed in 22 cases. In cases with two growth hormone stimulation tests, the growth hormone peak showed a moderate correlation (r = 0.593, p = 0.01). In logistic regression model height (z-score) and the growth hormone peak in first stimulation test were predictors of growth hormone deficiency diagnosis (each one unit increase in z-score decrease the growth hormone deficiency probability). DISCUSSION: Measurement of IGF-1 cannot be used in diagnosing growth hormone deficiency. CONCLUSION: Auxological criteria associated with a positive test seems to be a reliable diagnostic tool for growth hormone deficiency.
- Predictors of quality of life in Portuguese obese patients: a structural equation modeling applicationPublication . Vilhena, E.; Pais-Ribeiro, J.; Silva, I.; Cardoso, H.; Mendonça, D.Living with obesity is an experience that may affect multiple aspects of an individual's life. Obesity is considered a relevant public health problem in modern societies. To determine the comparative efficacy of different treatments and to assess their impact on patients' everyday life, it is important to identify factors that are relevant to the quality of life of obese patients. The present study aims to evaluate, in Portuguese obese patients, the simultaneous impact of several psychosocial factors on quality of life. This study also explores the mediating role of stigma in the relationship between positive/negative affect and quality of life. A sample of 215 obese patients selected from the main hospitals in Portugal completed self-report questionnaires to assess sociodemographic, clinical, psychosocial, and quality of life variables. Data were analysed using structural equation modeling. The model fitted the data reasonably well, CFI = 0.9, RMSEA = 0.06. More enthusiastic and more active patients had a better quality of life. Those who reflect lower perception of stigma had a better physical and mental health. Partial mediation effects of stigma between positive affect and mental health and between negative affect and physical health were found. The stigma is pervasive and causes consequences for psychological and physical health.
- Psychosocial factors as predictors of quality of life in chronic Portuguese patientsPublication . Vilhena, E.; Pais-Ribeiro, J.; Silva, I.; Pedro, E.; Meneses, R.; Cardoso, H.; Martins-Silva, A.; Mendonça, D.BACKGROUND: Chronic illnesses are diseases of long duration and generally of slow progression. They cause significant quality of life impairment. The aim of this study was to analyse psychosocial predictors of quality of life and of subjective well-being in chronic Portuguese patients. METHODS: Chronic disease patients (n = 774) were recruited from central Portuguese Hospitals. Participants completed self-reported questionnaires assessing socio-demographic, clinical, psychosocial and outcome variables: quality of life (HRQL) and subjective well-being (SWB). MANCOVA analyses were used to test psychosocial factors as determinants of HRQL and SWB. RESULTS: After controlling for socio-demographic and clinical variables, results showed that dispositional optimism, positive affect, spirituality, social support and treatment adherence are significant predictors of HRQL and SWB. Similar predictors of quality of life, such as positive affect, treatment adherence and spirituality, were found for subgroups of disease classified by medical condition. CONCLUSIONS: The work identifies psychosocial factors associated with quality of life. The predictors for the entire group of different chronic diseases are similar to the ones found in different chronic disease subgroups: positive affect, social support, treatment adherence and spirituality. Patients with more positive affect, additional social support, an adequate treatment adherence and a feel-good spirituality, felt better with the disease conditions and consequently had a better quality of life. This study contributes to understanding and improving the processes associated with quality of life, which is relevant for health care providers and chronic diseases support.
- Tiroidite auto-imune, experiência de uma consultaPublication . Tomé, S.; Bandeira, A.; Cardoso, H.; Borges, T.Introdução: A doença auto-imune da tiróide é a principal causa de Hipotiroidismo adquirido na criança e adolescente, a sua incidência em idade escolar é de 1.3%1. Objectivo: Caracterizar os doentes com Tiroidite Auto-Imune da consulta de Endocrinologia Pediátrica do Hospital Geral de Santo António em seguimento no ano de 2006. Metodologia: Foi efectuado um estudo retrospectivo com revisão dos processos clínicos, considerando os seguintes parâmetros: idade, sexo, forma de apresentação clínica e analítica, estádio pubertário, antecedentes pessoais e familiares de patologia auto-imune, anticorpos antitiroideus, exames imagiológicos, tratamento instituido e seguimento. Resultados: Obtivemos um total de 36 doentes, idades compreendidas entre 4.75 e 15.0 anos (média 11.4; mediana 12.2), 61% do sexo feminino e 61% púberes. A suspeita diagnóstica baseou-se em 50% dos casos na presença de bócio, em 33% na sequência do rastreio pela presença de outras doenças auto-imunes e em 17% no excesso de peso. Antecedentes familiares de patologia tiroideia presentes em 36%. Por definição, todos apresentavam anticorpos antitiroideus positivos. Na altura do diagnóstico, 39% apresentavam Hipotiroidismo compensado, 31% Hipotiroidismo descompensado, 28% função tiroideia normal e uma doente Hipertiroidismo compensado. A ecografia cervical revelou na maioria dos doentes uma glândula aumentada com padrão heterogéneo. Foi iniciada terapêutica com levotiroxina a todos os doentes com Hipotiroidismo, verificando-se normalização da função tiroideia. O seguimento médio dos doentes foi de 23.9 meses (máximo 78, mínimo um). Discussão: A tiroidite auto-imune continua a ser uma patologia prevalente em idade pediátrica, principalmente na adolescência, e a sua associação com outras doenças auto-imunes é mais uma vez evidenciada nesta análise. Os dados obtidos são concordantes com a literatura, como o facto de ser mais frequente no sexo feminino e ter uma boa resposta à terapêutica médica. ABSTRACT Introduction: Thyroid Auto-immune disease is the main cause of acquired hypothyroidism in paediatrics and has an incidence of 1.3% in school age. Aim: To characterize all patients followed in our unit for autoimmune thyroid disease during the year 2006. Methods: Retrospective study with revision of patients files, taking into consideration the following parameters: age, sex, clinical and analytical presentation, pubertal stage, personal and family AI pathological history, thyroid antibodies, imagiology, treatment and follow-up. Results: The number of patients was 36, with ages ranging from 4.75 years to 15.0 years (medium 11.4 years; median 12.2 years), 61% females, 61% in puberty. The diagnosis suspicion was based in goiter in 50% of the cases, obesity in 17% and in 33% during the routine analysis for other auto-immune diseases. There was a family history of thyroid disease in 36% of the cases. All of them had positive anti-thyroid antibodies. At the moment of the diagnosis, 39% of them had compensated Hypothyroidism, 31% had uncompensated Hypothyroidism, 28% had normal thyroid function and one case presented sub-clinical Hyperthyroidism. Cervical ultrasonography revealed, in the majority of cases, an augmented thyroid gland with heterogeneous pattern. All the patients with Hypothyroidism were replaced with levothyroxin and the normalization of the thyroid function was achieved. Mean follow-up time was 23.9 months (range from 1 to 78 months). Comments: Autoimmune thyroid disease is still a prevalent pathology among paediatric patients, especially during adolescence and its association with other autoimmune diseases is once again confirmed in this study. Our results are in accordance with literature referring higher female prevalence and good response to treatment.
- Visceral Obesity and Metabolic Syndrome Are Associated with Well-Differentiated Gastroenteropancreatic Neuroendocrine TumorsPublication . Santos, A.; Santos, A.; Castro, C.; Raposo, L.; Pereira, S.; Torres, I.; Henrique, R.; Cardoso, H.; Monteiro, M.The determinants for gastroenteropancreatic neuroendocrine tumors (GEP-NET) recent burden are matters of debate. Obesity and metabolic syndrome (MetS) are well established risks for several cancers even though no link with GEP-NETs was yet established. Our aim in this study was to investigate whether well-differentiated GEP-NETs were associated with obesity and MetS. Patients with well-differentiated GEP-NETs (n = 96) were cross-matched for age, gender, and district of residence with a control group (n = 96) derived from the general population in a case-control study. Patients presented gastro-intestinal (75.0%) or pancreatic (22.9%) tumors, grade G1 (66.7%) or G2 (27.1%) with localized disease (31.3%), regional metastasis (16.7%) or distant metastasis (43.8%) at diagnosis, and 45.8% had clinical hormonal syndromes. MetS was defined according to Joint Interim Statement (JIS) criteria. Well-differentiated GEP-NETs were associated with MetS criteria as well as the individual components' waist circumference, fasting triglycerides, and fasting plasma glucose (p = 0.003, p = 0.002, p = 0.011 and p < 0.001, respectively). The likelihood of the association was higher when the number of individual MetS components was greater than four. MetS and some individual MetS components including visceral obesity, dyslipidemia, and increased fasting glucose are associated with well-differentiated GEP-NET. This data provides a novel insight in unraveling the mechanisms leading to GEP-NET disease.