Neurofibromatosis: part 2--clinical management.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Cardiopatia isquêmica e doença coronária não-obstrutiva / Ischemic heart disease and non-obstructive coronary disease

A doença das atérias coronárias de etiologia aterosclerótica assume importância induscutível em razão de elevada prevalência e mortalidade nos países desenvolvidos e em desenvolvimento. O correto diagnóstico da doença coronária na mulher constitui inquestionável desafio aos cardiologistas, o que levou ao surgimento, nas duas últimas décadas, de extenso conhecimento relacionado às diferenças da doença coronária entre homens e mulheres. Este artigo trata das peculiaridades da cardiopatia isquêmica na mulher, sob a óptica da doença coronária obstrutiva e não-obstrutiva, com especial ênfase nas alterações do território microvascular, em razão da grande quantidade de publicações recentes sobre o tema. A primeira parte do artigo trata da doença coronária obstrutiva, cujas características epidemiológicas, fisiopatológicas, de apresentação clínica e de diagnóstico complementar são examinadas, seguidas das melhores evidências relacionadas ao tratamento. A segunda parte do artigo é dedicada à doença microvascular coronária ou, como recentemente recomendado, doença coronária não-obstrutiva, que assume importância essencial na medida em que cerca de 50 por cento das mulheres sintomáticas submetidas a cinecoronariografia não têm lesões significativas, mas, ao contrário do que se pensava, de que teriam bom prognóstico, são vulneráveis a eventos cardíacos e mortalidade, conforme demosntrado pelo estudo WISE.

Atherosclerotic coronary disease is an extremely important pathology due to its high prevalence and mortality in developed and developing countries. The accurate diagnosis of coronary disease in women is a challenge for cardiologists and has led to the development of extensive knowledge on the understanding of the differences of coronary disease between men and women in the last few decades. This paper discusses the particularities of obstructive and non-obstructive ischemic heart disease in women, with special emphasis on the abnormalities of the microvascular territory, due to the large amount of recent publications on this topic. The first part of the manuscript discusses obstructive coronary disease, whose epidemiologic and pathophysiology characteristics, clinical presentation and complementary diagnosis are evaluated and supported by the best evidences related to the treatment. The second part of the manuscript is dedicated to coronary microvascular disease, or, as recently recommended, non-obstructive coronary disease, which becomes extremely important since about 50% of symptomatic women undergoing coronary scintigraphy do not have significant lesions, and are vulnerable to cardiac events and mortality, in contrast to former beliefs that they had a good prognosis, as shown by the WISE study.