SE - Sistema Endócrino (Disfunção metabólica e doenças endócrinas)
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- Adolescentes com Diabetes Mellitus Tipo 1: O Olhar da investigação em contexto académicoPublication . Amaral-Bastos, M.
- Defeitos da β-Oxidação Mitocondrial dos Ácidos Gordos - Artigo de RevisãoPublication . Sarmento, A.; Cardoso, M.; Barbo, C.; Martins, E.RESUMO Os defeitos da β-oxidação dos ácidos gordos constituem um grupo de doenças hereditárias do metabolismo que inclui 16 patologias distintas. O seu diagnóstico é por vezes difícil, visto que a maioria dos doentes está assintomática fora dos períodos de descompensação metabólica. O objectivo deste artigo é efectuar uma revisão do estado actual do conhecimento e apresentar de forma simplificada uma abordagem diagnóstica deste grupo de doenças. Clinicamente os defeitos da β-oxidação caracterizam-se pelo envolvimento de órgãos dependentes do metabolismo dos ácidos gordos para obtenção de energia, nomeadamente: coração, músculo esquelético e fígado. Há que exclui-las no contexto de síndrome de morte súbita do lactente e síndrome Reye like. As manifestações podem ser agudas e episódicas ou evoluir para formas crónicas (com cardiomiopatia hipertrófica e fraqueza muscular). A maioria manifesta- se durante o 1º ano de vida. Em termos laboratoriais é comum uma hipoglicemia hipocetótica e acidose metabólica. O diagnóstico é feito a partir do doseamento da carnitina, estudo do perfil das acilcarnitinas no plasma e estudo dos ácidos orgânicos e acilglicinas na urina. Os estudos genéticos e enzimáticos permitem confirmar o diagnóstico e são indispensáveis para a realização de um posterior diagnóstico pré-natal. O tratamento consiste em prevenir um jejum prolongado, favorecer o aporte de hidratos de carbono como fonte de energia e, dependendo do défice específicos, recorrer ao tratamento com carnitina, MCT e riboflavina. ABSTRACT Inborn defects in fatty acid β-oxidation are a complex group of diseases in which 16 different entities are recognized. These are genetic disorders, in which affected patients are often free of symptoms between episodes of acute decompensation, so clinical recognition may be difficult. The purpose of this article is to review this group of defects and, to present an approach to the appropriate evaluation. Clinically these diseases involve fatty acid β-oxidation energy dependent tissues like skeletal and cardiac muscle and liver. They must be considered in cases of sudden infant death syndrome and Reye like syndrome. Symptoms may be either acute and episodic or have a more chronic evolution (with hypertrophic cardiomiopaty and muscle weakness). Most of the times, they present in the first year of life. Laboratory features commonly present hipoketotic hypoglycemia and a metabolic acidosis. Carnitine measurement, study of acylcarnitines in blood, organic acids and acylglycines in urine are important to diagnosis. Currently genetic studies and enzyme activity measurement allow a precise diagnosis and better understanding of theses entities. The primary treatment is avoidance of prolonged fasting, restricting fatty acid uptake and increasing carbohydrate uptake. Depending on the type of the underlying metabolic disorder, treatment with carnitine, MCT or riboflavine may be indicated.
- Diabetes Gestacional como Fator de Risco CardiovascularPublication . Dores, J.
- HIPERTIROIDISMO E GRAVIDEZPublication . Castro, J.; Borges, F.Os autores descrevem as etiologias mais frequentes do hipertiroidismo que ocorre na gravidez e referem as alterações imunológicas que caracterizam a doença de Graves e a tolerância imunológica associada à gravidez. Referem o quadro clínico, o diagnóstico laboratorial e o tratamento a efectuar. Como o tratamento médico é o mais frequente, referem os antitiroideus de síntese, suas características e a opção mais conveniente para o tratamento durante a gravidez. The authors describe most common hyperthyroidism aetiologies that occur during pregnancy and also the immunity changes that define Graves disease and the immunity tolerance associated to pregnancy. They also refer the clinical pictur, laboratorial diagnosis and the treatment to be carried out. Medical treatment is mostly based on anti-thyroid drugs. Their characteristics and use during pregnancy are discussed.
- Impact of gestational weight gain on obstetric and neonatal outcomes in obese diabetic womenPublication . Gante, I.; Amaral, N.; Dores, J.; Almeida, M.Both obesity and gestational diabetes mellitus are increasing in prevalence, being a major health problem in pregnancy with independent and additive impact on obstetrics outcomes. It is recognized that inadequate gestational weight gain is an independent risk factor for pregnancy-related morbidity. The aim of this study was to evaluate the effect of gestational weight gain on obstetric and neonatal outcomes in obese women with gestational diabetes.
- Insulinoterapia na diabetes mellitus tipo 2Publication . Dores, JorgeType 2 diabetes is a growing prevalent disease, usually symptomless, with devastating chronic complications for the individual, family and society. Its progressive nature leads to the dose escalating and the association of different drugs which will rapidly become insufficient to achieve the glycemic goals established individually. Insulin is the most effective drug to control diabetes but there is frequently a silent contract to resist to its implementation between the healthcare team and people with type 2 diabetes. This publication aims to share information about this therapeutic option, eliminating old myths and giving an understandable teaching about all the process of insulin therapy centered on the person with type 2 diabetes. Sharing knowledge with different groups of healthcare professionals regarding the glycemic goals and how to reach them with distinct kinds of available insulins, will allow the release by multiprofessional teams of a homogeneous and non contradictory information to the people with type 2 diabetes. Moreover, a good engagement between physicians and nurse educators in the same team is the cornerstone to the initiation and intensification of insulin therapy. The decision of starting insulin therapy is not the end of the process. The progressive nature of the disease compels to empower the patient to adjust its dose of insulin according to the self monitoring blood glucose data and to realize that the decision of a single therapeutic scheme is not definitive, being adapted upon the clinical condition of the person along the diabetes evolution
- Non-Transferrin-Bound Iron (NTBI) Uptake by T Lymphocytes: Evidence for the Selective Acquisition of Oligomeric Ferric Citrate SpeciesPublication . Arezes, J.; Costa, M.; Vieira, I.; Dias, V.; Kong, X.; Fernandes, R.; Vos, M.; Carlsson, A.; Rikers, Y.; Porto, G.; Rangel, M.; Hider, R.; Pinto, J.Iron is an essential nutrient in several biological processes such as oxygen transport, DNA replication and erythropoiesis. Plasma iron normally circulates bound to transferrin. In iron overload disorders, however, iron concentrations exceed transferrin binding capacity and iron appears complexed with low molecular weight molecules, known as non-transferrin-bound iron (NTBI). NTBI is responsible for the toxicity associated with iron-overload pathologies but the mechanisms leading to NTBI uptake are not fully understood. Here we show for the first time that T lymphocytes are able to take up and accumulate NTBI in a manner that resembles that of hepatocytes. Moreover, we show that both hepatocytes and T lymphocytes take up the oligomeric Fe3Cit3 preferentially to other iron-citrate species, suggesting the existence of a selective NTBI carrier. These results provide a tool for the identification of the still elusive ferric-citrate cellular carrier and may also open a new pathway towards the design of more efficient iron chelators for the treatment of iron overload disorders.
- 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.
- A rat model of restrictive bariatric surgery with gastric bandingPublication . MONTEIRO, M.P.; MONTEIRO, J.D.; AGUAS, A.P.; CARDOSO, M.H.Obes Surg. 2006 Jan;16(1):48-51. A rat model of restrictive bariatric surgery with gastric banding. Monteiro MP, Monteiro JD, Aguas AP, Cardoso MH. Department of Anatomy of ICBAS (Abel Salazar Institute for the Biomedical Sciences), and Division of Endocrinology of Santo Antonio General Hospital, University of Porto, Porto, Portugal. mpmonteiro@icbas.up.pt Abstract BACKGROUND: Gastric banding is a well established weight reduction operation that is effective in the treatment of severe obesity. Its metabolic and endocrine mechanisms of action, however, remain unclear. The aim of this study was to establish a rat model of gastric banding that would replicate the procedure performed in human obese patients. METHODS: Male Wistar rats were submitted either to gastric banding (n=5) or sham gastric banding (n=4), and were followed for 21 days. Detailed description on how to perform gastric banding in rats are herein described. RESULTS: The Wistar rats submitted to gastric banding showed a decrease in weight gain and food intake when compared to sham-operated rats. The cumulative weight gain during the 21 days after the surgical procedure was 143+/-2.58 g for the gastric banded rats and 162+/-2.48 g for the sham-operated animals (P=0.001). The cumulative food intake was 329+/-0.53 g for the gastric banded rats and 380+/-15.22 g for the sham-operated animals, also statistically significant (P=0.025). CONCLUSION: A rat model to study gastric banding is described. This model can now be used for experimental investigation of biochemical and molecular mechanisms of weight loss resulting from this type of surgery. PMID: 16417758 [PubMed - indexed for MEDLINE]