The Importance of Periodical Screening for Primary Hyperparathyroidism in a Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile.

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome characterized by parathyroid, anterior pituitary, and/or duodenopancreatic neuroendocrine tumors. Studies have indicated that investigating primary hyperparathyroidism (pHPT) with subsequent genetic screening may be an essential tool for the early diagnosis of MEN1 in patients with pituitary tumors (PTs). This study aimed to investigate the presence of pHPT in patients with PTs and, subsequently, to screen for genetic mutations and related tumors in patients with MEN1 syndrome. METHODS: This study included 255 patients with PTs who were assessed for the presence of MEN1 by serum calcium and parathyroid hormone measurements. Mutation screening of the MEN1, CDKN1B, and AIP genes was performed in the index cases showing the MEN1 phenotype. RESULTS: Five patients with PTs presented a clinical condition compatible with MEN1. These patients had a younger age of onset and a more severe clinical condition. Genetic analysis identified a frameshift mutation in the MEN1 gene in one of the cases with the MEN1 phenotype, but point mutations in CDKN1B and AIP were not detected in any of these patients. CONCLUSION: Our results show that periodic screening for pHPT in patients with PTs may be useful to detect MEN1 syndrome; thus, it is recommended in those patients with both findings a genetic analysis of MEN1 gene and an additional search of related tumors. By contrast, our data suggest that CDKN1B and AIP mutations do not seem to play a relevant role in the pathogenesis of MEN1.

Polypharmacy simulation and pharmacotherapy perceptions among students from a university in Ceará: a pilot study / Simulação de polimedicação e percepções sobre farmacoterapia em estudantes de universidade no Ceará: estudo-piloto

Abstract: Introduction: Given the high prevalence of polypharmacy patients, it is paramount that they be handled with an effective therapeutic alliance and with safe and feasible treatments. Empathy towards the patient is essential, and the lack of prescriber experience may hamper such bond. Objectives: This study simulates a polypharmacy regimen among medical students, aiming to promote reflections about the daily challenges faced by patients. Methods: It is a prospective study in a single, non-blind group. The participants were medical students and residents from our institution, all of whom followed a 7-day placebo prescription. They answered questionnaires on their perceptions of medication adherence and concordance before and after the simulation. Results: twenty-eight volunteers participated, 27 of which (96.4%) forgot to take at least one pill during the experiment. Among the lower undergraduates, 28.57% interrupted at least one medication. As for the higher undergraduates and residents, this happened with 71.43% of them. There were more adherence failures than predicted by the participants themselves. In realistic dosages, levothyroxine, angiotensin-converting enzyme inhibitors and metformin were the drugs reported to be the most difficult. 96% of the volunteers strongly agreed that doctor and patient's agreement regarding the treatment correlates with good adherence. Conclusion: Understanding the factors that affect adherence and how to handle them is essential for a doctor, as well as a good bond with the patient. The teaching of these abilities is very necessary. Further studies are needed to reach more undergraduate students and to highlight the relevance of simulations in the medical education setting.

Resumo: Introdução: Com a prevalência de pacientes polimedicados, é essencial que estes sejam manejados com aliança terapêutica efetiva e tratamentos factíveis e seguros. A empatia com o paciente é indispensável, e a falta de experiência dos prescritores pode impedir esse vínculo. Objetivo: O presente estudo simula um regime polimedicamentoso com acadêmicos de Medicina, para promover reflexões sobre as dificuldades vivenciadas pelos pacientes. Método: É estudo prospectivo em grupo único e não cego. Participaram estudantes de Medicina dos semestres 5 a 7, internos e residentes da nossa instituição, que seguiram regime placebo por sete dias. Antes e depois do período, os voluntários responderam a questionários de percepções sobre aderência medicamentosa e concordância terapêutica. Resultado: Participaram 28 voluntários, dos quais 27 (96,4%) esqueceram-se de utilizar pelo menos uma medicação durante o período. Dos graduandos, 28,57% referiram interrupção do uso de pelo menos uma. Do grupo de internos e residentes, essa porcentagem foi de 71,43%. Houve mais perdas de dose do que o previsto pelos participantes. Seguindo posologias realistas, levotiroxina sódica, inibidor de enzima conversora da angiotensina e metformina foram os fármacos referidos como de maior dificuldade. Do total de participantes, 96% afirmaram com veemência que o tratamento acordado entre médico e paciente deve se correlacionar com a boa aderência terapêutica. Conclusão: A compreensão sobre os fatores que influenciam na aderência e em seus manejos é indispensável na capacitação do médico, bem como o bom vínculo entre médico e paciente. O ensino dessas habilidades é necessário. São necessários estudos adicionais, a fim de alcançar mais graduandos e ressaltar a relevância de simulações no ensino médico.

Guidelines for the management of neuroendocrine tumours by the Brazilian gastrointestinal tumour group.

Neuroendocrine tumours are a heterogeneous group of diseases with a significant variety of diagnostic tests and treatment modalities. Guidelines were developed by North American and European groups to recommend their best management. However, local particularities and relativisms found worldwide led us to create Brazilian guidelines. Our consensus considered the best feasible strategies in an environment involving more limited resources. We believe that our recommendations may be extended to other countries with similar economic standards.

Achalasia and thyroid disease: possible autoimmune connection? / Acalasia e doença tireoidiana: uma conexão autoimune possível?

Many cases have been published showing a co-existence of autoimmune thyroid diseases (AITDs) and other autoimmune diseases. About a quarter of patients with achalasia have a concurrent thyroid disease, most commonly associated with hypothyroidism. Although relatively rare, the association of achalasia and hyperthyroidism requires attention. The physiopathology of Grave's Disease (GD) involves B- and T-mediator lymphocytes, which have an affinity for known thyroid antigens: thyroglobulin, thyroid-peroxidase, and thyrotrophin receptor. Currently, however, the real physiopathogenesis of achalasia continues to be unknown. Some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. The present case reports a patient who, despite testing negative for Chagas' disease, had achalasia, progressed to developing significant wasting and worsening of his quality of life, was later diagnosed with hyperthyroidism. After endoscopic esophageal dilatation and radioiodine ablation of the thyroid gland, there was great improvement in the patient clinical condition. Arq Bras Endocrinol Metab. 2012;56(9):677-82.

Muitos casos têm sido publicados mostrando uma coexistência entre as doenças autoimunes da tireoide (DAIT) e outras doenças autoimunes. Cerca de um quarto dos pacientes com acalasia têm doenças da tireoide concomitantemente, sendo a mais comum a associação com hipotireoidismo. Apesar de ser relativamente rara, a associação da acalasia e hipertireoidismo requer atenção. A fisiopatologia da doença de Graves (DG) envolve os linfócitos B e T-mediados, os quais têm afinidade pelos antígenos da tireoide: tireoglobulina, tireoperoxidase e receptor de tireotrofina. Atualmente, a real fisiopatogenia da acalasia continua desconhecida. No entanto, alguns importantes achados em análise são sugestivos de mecanismo autoimune: infiltração significativa do plexo mioentérico pelos monócitos, presença do antígeno-DQwl do Complexo Humano de Histocompatibilidade classe II e presença de anticorpos contra neurônios mioentéricos. Este presente caso aborda um paciente que, apesar de testes negativos para doença de Chagas, tem acalasia que progrediu para o desenvolvimento de significativa perda ponderal e piora da sua qualidade de vida, posteriormente, diagnosticado com hipertireoidismo. Após dilatação endoscópica esofágica e ablação da glândula tireoide com radioiodo, houve grande melhora na condição clínica do paciente. Arq Bras Endocrinol Metab. 2012;56(9):677-82.

Achalasia and thyroid disease: possible autoimmune connection?

Many cases have been published showing a co-existence of autoimmune thyroid diseases (AITDs) and other autoimmune diseases. About a quarter of patients with achalasia have a concurrent thyroid disease, most commonly associated with hypothyroidism. Although relatively rare, the association of achalasia and hyperthyroidism requires attention. The physiopathology of Grave's Disease (GD) involves B- and T-mediator lymphocytes, which have an affinity for known thyroid antigens: thyroglobulin, thyroid-peroxidase, and thyrotrophin receptor. Currently, however, the real physiopathogenesis of achalasia continues to be unknown. Some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. The present case reports a patient who, despite testing negative for Chagas' disease, had achalasia, progressed to developing significant wasting and worsening of his quality of life, was later diagnosed with hyperthyroidism. After endoscopic esophageal dilatation and radioiodine ablation of the thyroid gland, there was great improvement in the patient clinical condition.

Síndrome do QT longo adquirida em paciente com feocromocitoma / Long QT syndrome in patient with pheochromocytoma

A associação entre feocromocitoma e síndrome do QT longo adquirida é fenômeno raro na literatura. Foram encontrados somente quatro relatos de caso, sendo este o primeiro na literatura brasileira. Este trabalho descreve o caso de um paciente com história de síncopes convulsivas, hipertensão arterial e diabetes, com diagnóstico de feocromocitoma e síndrome do QT longo, com crises documentadas de taquicardia ventricular nos episódios convulsivos. A elevada incidência de morte súbita nesses pacientes pode sugerir episódios de taquicardia ventricular polimórfica do tipo Torsades de Pointes como etiologia, tendo o QT longo como substrato. Essa associação rara e subdiagnosticada deve ser lembrada nos diagnósticos diferenciais.