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.

Neurofibromatoses: part 1 - diagnosis and differential diagnosis.

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses: part 1 diagnosis and differential diagnosis / Das neurofibromatoses: parte 1 diagnostico e diagnostico diferencial

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

Sex-related differences in sweat gland cholinergic sensitivity exist irrespective of differences in aerobic capacity.

Mechanisms accounting for sex-related differences in the sweat response remain to be elucidated. In the present study, we focused on differences in sweat gland cholinergic sensitivity between males and females. Since, males usually possess higher aerobic capacity than females, we investigated sweating in males and females grouped according to aerobic capacity (.VO(2peak)). Forty-four subjects were assigned to four groups: males with higher (MH) and lower (ML), and females with higher (FH) and lower (FL) .VO(2peak). Forearm sweating was induced by iontophoretic administration (1.5 mA, 60 muA cm(-2), 5 min) of pure water or varying concentrations of pilocarpine hydrochloride (0.125, 0.250, 0.5, 1.0 and 2.0%). Local sweat rate (absorbent paper) and the number of activated sweat glands (iodine impregnated paper) were computed. Maximal pilocarpine-induced sweat rate (SR(max)) and the pilocarpine concentration which elicited 50% of maximal sweating response (K (m)) were calculated. Sweat rate and active gland density increased in response to greater doses of pilocarpine (p < 0.05). Inter-group differences were evident: SR(max) was greatest for MH and lowest for FL (p < 0.05), but no significant differences were observed between ML and FH (p = 0.24). Higher SR(max) were observed, within-sex, for those with greater aerobic capacity (p < 0.05). Furthermore, males' K (m) values were higher than females', indicating greater sweat gland affinity for pilocarpine even for groups having similar aerobic capacity (p < 0.05). In summary, we confirmed that the human sudomotor response is affected by aerobic capacity but, also, that sex-related differences in sweat gland cholinergic sensitivity exist and are not necessarily associated with the typical differences in .VO(2peak) observed between sexes.

Diabetes mellitus tipo 1 na ausência de neuropatia autonômica não altera a taxa de sudorese no exercício / Type 1 diabetes mellitus in the lack of autonomic neuropathy does not alter the sudoresis rate in exercise

A sudorese é o principal mecanismo autonômico termorregulatório na espécie humana. A taxa de sudorese (TS) durante o exercício pode ser influenciada por diversos fatores, entre eles doenças, como o diabetes mellitus tipo 1, cujos pacientes são vítimas potenciais de distúrbios termorregulatórios. Os exercícios regulares são recomendados para diabéticos e, inclusive, alguns deles tornam-se atletas. No entanto, ainda não foi medida a TS de diabéticos durante exercício progressivo até a exaustão (GXT) e comparada com a de indivíduos sadios com características antropométricas semelhantes. O presente estudo comparou a TS de sete voluntários diabéticos (DM) e sete controles (GC), semelhantes quanto à idade, gênero, composição corporal e capacidade aeróbica. Antes e após o GXT, foram medidos a gravidade específica da urina (GEU), o peso e a glicemia capilar. A TS global foi calculada dividindo-se a variação do peso pelo tempo de coleta e área de superfície corporal. A TS local do antebraço foi calculada utilizando-se a variação do peso de um filtro absorvente corrigido pela sua área e tempo de coleta. As TS locais do antebraço e da perna foram induzidas por iontoforese com pilocarpina (0,5 por cento) no grupo DM. A freqüência cardíaca (FC) foi registrada antes, durante e após GXT. A temperatura média da pele (TMP) e as condições térmicas ambientais foram medidas durante o experimento. A glicemia capilar foi maior no DM, como o esperado. As TS global e local foram semelhantes entre os grupos, enquanto que a FC no repouso e a TMP no repouso e no exercício foram maiores no DM. Não houve diferença entre as TS do antebraço e da perna no DM com a pilocarpina. Concluiu-se que a resposta sudorípara foi semelhante entre diabéticos jovens e grupo controle durante exercício progressivo em ambiente temperado.

Sudoresis is the main autonomic human thermoregulatory mechanism. It can be influenced by several factors, including diseases, among them diabetes mellitus Type 1 (DM1), whose patients are potential victims of thermoregulatory disturbances. Regular physical exercises are recommended to diabetic people and some of them even become athletes. However, up to now, the sweat rate (SR) of diabetic patients during graded exercise until exhaustion (GXT) has not been compared to the SR of healthy individuals with similar physical characteristics. The present study measured global (SRglobal) and local (SRlocal) sweat rates during GXT in 14 diabetic (DM) and control subjects (CG), similar in age, gender, body composition and aerobic capacity. Urine specific gravity (Gu), body mass and blood glucose (Gblood) were measured before and after GXT. Besides that, Srlocal (forearm and leg) was measured by iontophoresis with pilocarpine (0.5 percent) in the DM group. Heart rate (HR), skin temperature (Tsk) and environmental thermal conditions were measured during the experiment. Both initial and final Gblood were higher in the DM, as expected. The Gu were similar between groups. Exercise induced similar SRglobal and SRlocal in both groups, whereas the rest HR and rest and exercise Tsk were higher in the DM. Forearm and leg SR were not different in the DM. It was concluded that the sweating response was not different between young diabetic patients and control group during GXT in a temperate environment.