A prevalência da Diabetes Mellitus tipo 1 tem vindo a aumentar nos últimos anos. O tratamento intensivo através de Sistema de Perfusão Subcutânea Contínua de Insulina é o método mais fisiológico de administração de insulina atualmente disponível. Para que este seja eficaz é fundamental ter conhecimentos sobre a composição dos alimentos, particularmente os Hidratos de Carbono. O presente estudo teve como objetivos avaliar e caracterizar o controlo metabólico, compará-lo antes e depois do Sistema de Perfusão Subcutânea Contínua de Insulina, avaliar os conhecimentos de contagem de Hidratos de Carbono e relacioná-los com o controlo metabólico. Trata-se de um estudo observacional, analítico e retrospetivo, com uma amostra de conveniência constituída pelos utentes com consulta entre novembro 2017 e março de 2018 no Hospital Garcia de Orta. A avaliação do controlo metabólico foi realizada através da HbA1c. Na avaliação dos conhecimentos sobre contagem de Hidratos de Carbono utilizou-se uma adaptação do questionário PedCarbQuiz. Avaliaram-se 60 indivíduos com uma média de idades 21,3 ± 14,27 anos [2 - 57]. Aquando a colocação do Sistema de Perfusão Subcutânea Contínua de Insulina, apenas 23,6% da amostra se encontrava com a HbA1c dentro dos valores recomendados. Três meses após a colocação do Sistema de Perfusão Subcutânea Contínua de Insulina verificou-se uma diminuição significativa da HbA1c, que estabilizou após os 6 primeiros meses. Relativamente aos conhecimentos sobre contagem de HC, 78,3% possuíam nível muito bom e os restantes nível bom. Não foi detetada correlação significativa entre a HbA1c e os conhecimentos de contagem de Hidratos de Carbono, ou seja, ter mais conhecimentos não demonstrou ter influência no controlo metabólico da amostra.

The prevalence of type 1 diabetes mellitus has been increasing in recent years. Intensive treatment through Continuous Subcutaneous Insulin Perfusion System is the most physiological method of insulin administration currently available. For this to be effective it is essential to have knowledge about the composition of the food, particularly about its content in carbohydrates. The aim of the present study was to evaluate and characterize metabolic control, to compare it before and after Continuous Subcutaneous Insulin Perfusion System, to evaluate the carbohydrates count knowledge and to relate it to metabolic control. This is an observational, analytical and retrospective study, with a convenience sample of patients consulted between November 2017 and March 2018 at the Garcia de Orta Hospital. The evaluation of metabolic control was performed through HbA1c. In the evaluation of the knowledge about carbohydrates count, an adaptation of the PedCarbQuiz questionnaire was used. Sixty individuals with a mean age of 21.3 ± 14.27 years were evaluated [2-57]. At the Subcutaneous Insulin Perfusion System, placement, only 23.6% of the sample was HbA1c within the recommended values. 3 months after Continuous Subcutaneous Insulin Perfusion System placement there was a substantial decrease in HbA1c, which stabilized after the first 6 months. Regarding the knowledge about carbohydrates count, 78.3% had “very good” level and the remaining “good” level. No significant correlation was detected between HbA1c and carbohydrates counting knowledge. Having more knowledge has not been shown to influence the metabolic control of the sample.

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was relevant for a maternal uncle death at the newborn age. Beyond 2 year-old steroid measurements rendered undetectable and delayed bone age was noticed. Molecular analysis of NR0B1 gene revealed a previously unreported mutation (c.1084A>T), leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were asymptomatic carriers. At 14 year-old he had 3 mL of testicular volume and biochemical surveys (LH < 0.1 UI/L, total testosterone < 10 ng/dL) concordant with hypogonadotrophic hypogonadism. Kindred B had two males diagnosed with adrenal insufficiency at the newborn age. By 3 year-old both siblings had undetectable androgen levels and delayed bone age. NR0B1 molecular analysis identified a nonsense mutation in both cases, c.243C>G; p.Tyr81*, in exon 1. Their mother and sister were asymptomatic carriers. At 14 year-old (Tanner stage 1) hypothalamic-pituitary-gonadal axis evaluation in both males (LH < 0.1UI/L, total testosterone < 10 ng/dL) confirmed hypogonadotropic hypogonadism. In conclusion, biochemical profiles, bone age and an X-linked inheritance led to suspicion of NR0B1 mutations. Two nonsense mutations were detected in both kindreds, one previously unreported (c.1084A>T; p.Lys362*). Mutation identification allowed the timely institution of testosterone in patients at puberty and an appropriate genetic counselling for relatives.

Paciente de 82 anos apresentando-se com nódulo tireoidiano de crescimento progressivo e ptose palpebral esquerda. O exame oftalmológico revelou ainda miose ipsilateral e achados diagnósticos de síndrome de Horner. A tomografia computadorizada mostrou massa tireoidiana de 7,5 cm infiltrando os grandes vasos do pescoço. Apesar dos dados clínicos e imagiológicos sugestivos de um carcinoma pouco diferenciado da tireoide, a citologia aspirativa foi diagnóstica de carcinoma papilar. Em função do estádio avançado da neoplasia e das comorbilidades significativas, foi proposta para terapêutica paliativa. A síndrome de Horner é uma manifestação clínica infrequente em tumores tireoidianos, estando as condições benignas maioritariamente implicadas. As neoplasias malignas da tireoide representam uma causa rara de síndrome de Horner. Contudo, um diagnóstico adequado e expedito é fundamental para o tratamento atempado nos raros casos de malignidade da tireoide.

An 82-year-old patient presented a progressively growing hard thyroid nodule, and left ptosis. Additionally, ophthalmologic evaluation revealed ipsilateral miosis, diagnostic findings of Horner syndrome. Computerized tomography revealed a 7.5-cm thyroid mass infiltrating the main neck vessels. Although clinical and imaging data were suggestive of poorly differentiated thyroid carcinoma, fine-needle aspiration led to the diagnosis of papillary carcinoma. Paliative care was proposed to the patient due to the advanced stage of the neoplasm and to significant comorbidities. Horner syndrome is an infrequent manifestation of thyroid disorders and benign etiologies are more often implied. Malignant thyroid neoplasms represent a rare cause of Horner syndrome. However, an appropriate and prompt diagnosis is paramount for timely treatment of rare thyroid malignancies.