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SUMMARY BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement including low bone mineral density (BMD). OBJECTIVE To assess the bone phenotype of individuals with NF1 and verify its association with nutrient intake. METHODS Twenty-six adults with NF1 underwent bone phenotype assessments using dual-energy X-ray absorptiometry (DXA) and food intake evaluations. They were compared to 26 unaffected matched control patients. Weight, height, and waist circumference (WC) were measured. DXA provided total body, spine, and hip BMDs and bone mineral content (BMC) for all patients. Food intake was evaluated for energy, macro- and micro-nutrients. RESULTS Height (1.68 ± 0.1; 1.61 ± 0.1 cm; P = 0.003) and BMC (2.3 ± 0.4; 2.0 ± 0.5 kg; P = 0.046) were lower in the NF1 group. Individuals with NF1 also presented lower total body and spine BMDs (g/cm2) (1.1 ± 0.1, 1.0 ± 0.1, P = 0.036; 1.0 ± 0.1, 0.9 ± 0.1; P = 0.015, respectively). The frequency of total body bone mass below the expected level for patients’ ages was higher in the NF1 group (7.7%; 34.6%, P = 0.016). There were no differences in energy consumption. No correlations between BMC and BMD with nutrient intake were observed in the NF1 group. CONCLUSIONS The NF1 group presented lower BMCs and BMDs. Although a lower consumption of calcium, iron, and vitamin A, and a higher intake of sodium and omega-6 were observed, there was no relationship between bone phenotype and nutrient intake. RESUMO INTRODUÇÃO A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante caracterizada por envolvimento neurocutâneo e multissistêmico, incluindo baixa densidade mineral óssea (DMO). OBJETIVOS Avaliar características ósseas em indivíduos com NF1 e verificar associação com a ingestão de nutrientes. METODOLOGIA 26 adultos com NF1 submeteram-se a avaliação dos parâmetros ósseos usando absorciometria com raios-X de dupla energia (DXA), além da avaliação da ingestão alimentar. O grupo NF1 foi comparado e pareado com 26 indivíduos sem a doença. Peso, estatura e circunferência da cintura foram avaliados. DXA forneceu o conteúdo mineral ósseo (CMO) e a DMO do corpo total, coluna e fêmur. A ingestão de calorias, macronutrientes e micronutrientes foi avaliada. RESULTADOS O grupo NF1 apresentou redução da estatura (1,68 ± 0,1; 1,61 ± 0,1 cm; P=0,003) e do CMO (2,3 ± 0,4; 2,0 ± 0,5 kg; P=0,046). Indivíduos com NF1 também apresentaram redução da DMO de corpo total e coluna (g/cm2) (1,1 ± 0,1, 1,0 ± 0,1, P=0,036; 1,0 ± 0,1, 0,9 ± 0,1; P=0,015, respectivamente). A frequência de indivíduos com massa óssea abaixo do esperado para a idade foi maior no grupo NF1 (7,7%; 34,6%, P=0,016). Não houve diferenças no consumo energético. Não houve correlação entre CMO e DMO com a ingestão de nutrientes no grupo NF1. CONCLUSÕES O grupo NF1 apresentou redução do CMO e da DMO. Apesar de menor consumo de cálcio, ferro e vitamina A, e maior consumo de sódio e ômega-6, não foi observada relação entre o fenótipo ósseo e a ingestão de nutrientes.

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.

Introdução: Dados sugerem menor ocorrência de diabetes mellitus (DM) em indivíduos com neurofibromatose tipo 1 (NF1). O diabetes mellitus tipo 2 (DM2) é a forma presente em cerca de 90% dos casos de DM e está associado à resistência à insulina (RI). Objetivo: Avaliar ascaracterísticas metabólicas e nutricionais relacionadas à RI em indivíduos com NF1 e comparar com indivíduos sem a doença. Métodos: Este estudo foi realizado em duas etapas. Na etapa 1, estudaram-se os níveis de glicemia de jejum de indivíduos com NF1 atendidos noCentro de Referência em Neurofibromatoses da Universidade Federal de Minas Gerais (CRNF-UFMG) por meio de uma revisão dos prontuários médicos. Foram registrados os dados de peso corporal, estatura e glicemia de jejum. A glicemia de jejum dos indivíduos comNF1 foi comparada com uma amostra de participantes do Estudo Longitudinal de Saúde do Adulto (ELSA) pareados por sexo, idade e índice de massa corporal (IMC), na proporção de um caso para três controles. Na Etapa 2, foram selecionados indivíduos com NF1 atendidos no CRNF-UFMG pareados por sexo, idade e IMC com controles provenientes da comunidade. Os participantes foram submetidos a anamnese, avaliação nutricional e dietética e coleta de amostras de sangue para avaliação dos níveis de glicemia, insulina, hemoglobina glicada, perfil lipídico e adipocitocinas. Os indicadores Homeostasis Model Assessment Insulin Resistance (HOMA-IR), Homeostasis Model Assessment Beta Cell Function (HOMABeta);Homeostasis Model Assessment Adiponectin (HOMA-AD), Quantitative Insulin Sensitivity Check Index(QUICKI) e Relação Adiponectina/Leptina (RAL) foram utilizados para determinar a RI. Resultados: A Etapa 1, incluiu 57 prontuários de indivíduos com NF1 e 171 controles ELSA. Os resultados indicaram menor mediana de glicemia de jejum (NF1:86,0 mg/dL (81,0 95,5); controle: 102,0 mg/dL (96,0 108,0), p < 0,001), bem como menor prevalência (NF1: 16%; controles: 63%, p < 0,001) e chance (OR: 0,11; IC95%: 0,07 0,19) de desenvolver glicemia de jejum elevada no grupo NF1. Na etapa 2, foram avaliados 40indivíduos com NF1 e 40 controles. O HOMA-AD foi significativamente menor no grupo NF1 (NF1: 1,0 (0,5 1,7); controle: 1,9 (1,0 4,1), p = 0,003). A RAL foi significativamente maior no grupo NF1 (NF1: 3,8 (2,1 12,6); controles:1,2 (0,7 2,1), p = 0,003). Não foram observadas diferenças entre os grupos em relação ao HOMA-IR, HOMA-Beta e QUICKI. Em relação às características nutricionais, o peso (NF1: 60,8 ± 13,1 kg; controles: 68,6 ± 14,5 kg; p < 0,001), a estatura (NF1: 1,57 m (1,51 1,63); controles: 1,62 m (1,57 1,74), p < 0,001), a massa livre de gordura (NF: 43,7 ± 7,9 kg; controles: 47,2 ± 9,4 kg, p = 0,036), percentual de gordura (NF1: 26,9 ± 8,1 kg; controles: 30,6 ± 7,3 kg, p = 0,015), massa gorda (NF1: 16,9 ± 7,5 kg; controles: 21,3 ± 8,1 kg, p = 0,036) e a água corporal (NF1: 31,4 ± 6,1; controles: 34,1 ± 7,4 L, p < 0,001) foram significativamente menores no grupo NF1. Em relação às características metabólicas, a glicemia de jejum dos indivíduos com NF1 foi significativamente menor que dos controles (NF1: 83,5 mg/dL (78,0 90,0); controles: 86,0 mg/dL (83,0 94,0), p = 0,008). Os níveis de adiponectina foram significativamente maiores (NF1: 23,7 g/mL (17,0 39,4); controles: 15,0 g/mL (11,3 20,9), p < 0,001) e os de visfatina (NF1: 118,2 ng/mL (105,8 124,8); controles: 138,2 ng/mL (125,5 147,7), p = 0,001) significativamente menores nos indivíduos com NF1. Não foram observadas diferenças significativas em relação aos níveis de glicemia duas horas pós 75 g de dextrosol, insulina, hemoglobina glicada, leptina e resistina. O HOMA-AD apresentou correlação significativa com os outros marcadores de RI (HOMA-IR, HOMA-Beta, QUICKI e RAL), com as características nutricionais (IMC, circunferência da cintura, relação cintura/estatura, massa gorda e massa livre de gordura), com os indicadores de DM (glicemia jejum, glicemia pós dextrosol e hemoglobina glicada), com os lipídeos séricos (VLDL e triglicérides) e com adipocitocinas (adiponectina, leptina, visfatina). A RAL apresentou correlação inversa com a massa gorda, IMC, leptina e visfatina e correlação direta com adiponectina. De acordo com o modelo de regressão linear múltipla, os níveis de triglicérides, visfatina e a massa gorda influenciaram significativamente o HOMA-AD e os níveis de glicemia, visfatina, a massa gorda e a circunferência da cintura influenciaram significativamente a RAL. Conclusão: Os resultados do presente estudo sugerem que a menor massa gorda, menores níveis de glicemia de jejum, visfatina e HOMA-AD e maiores níveis de adiponectina e relação RAL podem estar relacionadas à maior sensibilidade à insulina e ocorrência de DM2 em indivíduos com NF1. Introduction: Data suggests a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). The type 2 diabetes mellitus (DM2) is the form present in about 90% of cases of DM and it is associated with insulin resistance (IR). Objective: To evaluate metabolic and nutritional characteristics related to IR in individuals with NF1compared to individuals without the disease. Methods: This study was realized in two phases. In phase one, we study the fasting blood glucose levels (FBG) in individuals with NF1 from the Neurofibromatosis Outpatient Reference Center of Federal University of Minas Gerais(CRNF-UFMG) by through a review of medical records. The weight, height and FBG levels data were recorded. The FBG levels of individuals with NF1 was compared to a sample of participants in the Study of Adult Health Longitudinal (ELSA) matched by sex, age and body mass index (BMI), in the proportion of one case for each three controls. In phase two, we selected individuals with NF1 from the CRNF-UFMG matched by sex, age and BMI with controls from the community. The participants underwent anamnesis, dietary and nutritional assessment and collection of blood samples for evaluation of glycemic profile, insulin, glycated hemoglobin, lipid profile and adipocytokines. The indicators Homeostasis Model Assessment Insulin Resistance (HOMA-IR), Homeostasis Model Assessment Beta Cell Function (HOMA-Beta); Homeostasis Model Assessment Adiponectin (HOMA-AD), Quantitative insulin sensitivity index (QUICKI), and Adiponectin/Leptin ratio (ALR) wereused to determine IR. Results: In the phase 1, were included 57 medical records of individuals with NF1 and 171 ELSA controls. The results showed a lower median of FBG (NF1: 86.0 mg/dL (81.0 to 95.5); controls: 102.0 mg/dL (96.0 108.0), p < 0.001) and a lower prevalence (NF1: 16%; controls: 63%, p < 0.001) as well as lower chance (OR: 0.11;95% CI: 0.07 to 0.19) of developing high FBG levels in the NF1 group. In phase 2, were evaluated 40 individuals with NF1 and 40 controls. HOMA-AD was significantly lower in the NF1 group (NF1: 1.0 (0.5 1.7); control: 1.9 (1.0 4.1), p = 0.003). ALR was significantly higher in the NF1 group (NF1: 3.8 (2.1 12.6); controls: 1.2 (0.7 2.1), p = 0.003). Nodifferences were observed between the groups in relation to HOMA-IR, HOMA-Beta and QUICKI. About nutritional characteristics, weight (NF1: 60.8 ± 13.1 kg, controls: 68.6 ± 14.5 kg, p < 0.001), height (NF1: 1.57 m (1.51 1.63), controls: 1.62 m (1.57 1.74), p < 0.001), fat free mass (NF:43.7 ± 7.9 kg, controls: 47.2 ± 9, p < 0.001), p = 0.036), fat percentage(NF1: 26.9 ± 8.1 kg, controls: 30.6 ± 7.3 kg, p = 0.015), fat mass (NF1: 16.9 ± 7.5 kg; controls: 21,3 ± 8,1 kg, p = 0,036) and body water (NF1: 31.4 ± 6.1, controls: 34.1 ± 7.4 L, p < 0.001) were significantly lower in NF1 group. In relation to the metabolic characteristics, the FBG levels of NF1 subjects was significantly lower than the controls (NF1: 83.5 mg/dL(78.0 90.0), control: 86.0 mg/dL (83.0 94.0), p = 0.008). Adiponectin levels were significantly higher (NF1: 23.7 g/mL (17.0 39.4); controls: 15.0 g/mL (11.3 20.9), p < 0.001) and visfatin levels (NF1: 118.2 ng/mL (105.8 124.8), controls: 138.2 ng/mL (125.5 147.7), p = 0.001) were significantly lower in subjects with NF1. No significant differences were observed in blood glucose levels two hours after 75 g of dextrosol, insulin, glycated hemoglobin, leptin and resistin. HOMA-AD showed a significant correlation with other markers of IR (HOMA-IR, HOMA-Beta, QUICKI and ALR), with nutritional characteristics (BMI, waist circumference, waist/height ratio, fat mass and fat free mass), withthe DM indicators (FBG, glycemia post-dextrosol and glycated hemoglobin), with serum lipids (VLDL and triglycerides) and adipocytokines (adiponectin, leptin, visfatin). AL presented inverse correlation with fat mass, BMI, leptin, visfatin and direct correlation withadiponectin. According to the multiple linear regression model, the triglycerides, fat mass and visfatin significantly influenced HOMA-AD and FBG, visfatin, fat mass and waist circumference significantly influenced RAL. Conclusion: The results of this study suggests that lower fat mass, FBG, visfatin and HOMA-AD levels and higher adiponectin levels andALR may be related to a high insulin sensitivity and lower occurrence of DM2 in NF1 individuals.

Objects To compare insulin resistance (IR) and metabolic aspects of patients with neurofibromatosis type 1 (NF1) and individuals without the disease. Subjects and methods Forty patients with NF1 were matched by sex, age, and body mass index (BMI) to 40 controls from the community. Blood samples were collected for biochemical assessment. Homeostasis model assessment adiponectin (HOMA-AD), Homeostasis model assessment insulin resistance (HOMA-IR), and adiponectin/leptin ratio (ALR) were used to identify IR. Results The median HOMA-IR values were similar between the groups. However, the HOMA-AD value was significantly lower and the ALR significantly higher in the NF1 group. Fasting blood glucose (FBG), leptin, and visfatin levels of patients with NF1 were significantly lower, although adiponectin levels were significantly higher than those in the controls. Fasting insulin and blood glucose levels 2 hours after administration of 75 g of dextrose, glycated hemoglobin, and resistin showed no significant differences between groups. The HOMA-AD correlated with BMI, FBG, blood glucose levels 2 hours after administration of 75 g of dextrose, fasting insulin, glycated hemoglobin, adiponectin, leptin, visfatin, ALR, and HOMA-IR. The ALR correlated with BMI leptin, visfatin, and adiponectin. Conclusions Lower levels of FBG, leptin, visfatin, and HOMA-AD, and higher adiponectin levels and ALR may be related to increased insulin sensitivity and lower occurrence of type 2 diabetes mellitus in patients with NF1

OBJETIVO: Avaliar a sobrevida e complicações de pacientes idosos com doenças neurológicas em uso de nutrição enteral (NE). MÉTODOS: Avaliaram-se pacientes acima de 60 anos acompanhados pelo serviço de atenção domiciliar de um plano de saúde de Belo Horizonte, MG, Brasil. A avaliação ocorreu no domicílio após a alta hospitalar com NE, após três e seis meses e ao término do estudo. Foram realizadas avaliação nutricional, coleta de dados em prontuários e entrevistas com familiares ou cuidadores. RESULTADOS: Foram avaliados 79 pacientes, idade 82,9 ± 10,4 anos, 49,4% com demência e 50,6% com outros diagnósticos neurológicos, 100% com elevado grau de dependência avaliada pelo índice de Katz. A maioria dos pacientes (91,2%) apresentou complicações (pneumonia, perda da sonda, diarreia, constipação, vômito, extravasamento periostomia, obstrução da sonda, refluxo e miíase). Pneumonia foi a mais frequente, ocorrendo em 55,9%. A mortalidade foi de 15,2% aos três meses, 22,8% aos 6 meses e 43% ao término do estudo. A mediana de sobrevida após iniciada a NE foi de 364 dias. Não se observaram diferenças entre mortalidade e diagnóstico neurológico, vias de acesso de NE e complicações. A sobrevida foi menor em pacientes com estado nutricional inadequado e albumina < 3,5 mg/dL. CONCLUSÃO: A população acompanhada apresentou elevada taxa de complicações e óbito ao término do estudo. Os diagnósticos de demência, vias de acesso de NE e complicações não influenciaram a sobrevida. Entretanto, estado nutricional inadequado, de acordo com a avaliação clínica, e albumina inferior a 3,5 mg/dL influenciaram significativamente a sobrevida.OBJECTIVE: To evaluate the occurrence of complications, as well as the survival rates, in elderly people having neurological diseases and undergoing enteral nutrition therapy (ENT). METHODS: Patients aged over 60 years, assisted by a home medical service from a healthcare plan in the city of Belo Horizonte, MG, Brazil, were thoroughly evaluated. The mentioned evaluation occurred at their homes after hospital discharge with enteral nutrition (EN) after a three-month period, a six-month period, and at the end of the study. A nutritional assessment was performed along with data collection performed on the patients' electronic medical records, and interviews performed with patients' family members and caregivers. RESULTS: Seventy-nine patients aged 82.9 ± 10.4 years old were evaluated; of these, 49.4% presented dementia, and 50.6% presented other neurological diagnoses. 100% of patients presented a high dependence level, assessed by the Katz index. The majority of patients (91.2%) presented some complications such as: pneumonia, catheter loss, diarrhea, constipation, vomiting, fluid leakage, periostotomy, tube obstruction, reflux, and myiasis. Pneumonia was the most frequent complication, occurring in 55.9% of cases. The mortality rates were 15.2% at a three-month period, 22.8% at a six-month period, and 43% at the end of study. The median survival after starting EN was 364 days. Differences among the mortality rate and neurological diagnosis, EN routes of access, and complications were not observed. The survival rate was lower in patients having inadequate nutritional status and albumin levels < 3.5 mg/dL. Conclusion: The population followed presented a high rate of complications and death at the end of the study. Diagnosis of dementia, EN routes of access, as well as complications, did not influence the survival rates. However, inadequate nutritional status according to the clinical assessment and albumin levels lower than 3.5 mg/dL significantly influenced the survival rates.

OBJETIVO: Avaliar a sobrevida e complicações de pacientes idosos com doenças neurológicas em uso de nutrição enteral (NE). MÉTODOS: Avaliaram-se pacientes acima de 60 anos acompanhados pelo serviço de atenção domiciliar de um plano de saúde de Belo Horizonte, MG, Brasil. A avaliação ocorreu no domicílio após a alta hospitalar com NE, após três e seis meses e ao término do estudo. Foram realizadas avaliação nutricional, coleta de dados em prontuários e entrevistas com familiares ou cuidadores. RESULTADOS: Foram avaliados 79 pacientes, idade 82,9 ± 10,4 anos, 49,4% com demência e 50,6% com outros diagnósticos neurológicos, 100% com elevado grau de dependência avaliada pelo índice de Katz. A maioria dos pacientes (91,2%) apresentou complicações (pneumonia, perda da sonda, diarreia, constipação, vômito, extravasamento periostomia, obstrução da sonda, refluxo e miíase). Pneumonia foi a mais frequente, ocorrendo em 55,9%. A mortalidade foi de 15,2% aos três meses, 22,8% aos 6 meses e 43% ao término do estudo. A mediana de sobrevida após iniciada a NE foi de 364 dias. Não se observaram diferenças entre mortalidade e diagnóstico neurológico, vias de acesso de NE e complicações. A sobrevida foi menor em pacientes com estado nutricional inadequado e albumina < 3,5 mg/dL. CONCLUSÃO: A população acompanhada apresentou elevada taxa de complicações e óbito ao término do estudo. Os diagnósticos de demência, vias de acesso de NE e complicações não influenciaram a sobrevida. Entretanto, estado nutricional inadequado, de acordo com a avaliação clínica, e albumina inferior a 3,5 mg/dL influenciaram significativamente a sobrevida. OBJECTIVE: To evaluate the occurrence of complications, as well as the survival rates, in elderly people having neurological diseases and undergoing enteral nutrition therapy (ENT). METHODS: Patients aged over 60 years, assisted by a home medical service from a healthcare plan in the city of Belo Horizonte, MG, Brazil, were thoroughly evaluated. The mentioned evaluation occurred at their homes after hospital discharge with enteral nutrition (EN) after a three-month period, a six-month period, and at the end of the study. A nutritional assessment was performed along with data collection performed on the patients' electronic medical records, and interviews performed with patients' family members and caregivers. RESULTS: Seventy-nine patients aged 82.9 ± 10.4 years old were evaluated; of these, 49.4% presented dementia, and 50.6% presented other neurological diagnoses. 100% of patients presented a high dependence level, assessed by the Katz index. The majority of patients (91.2%) presented some complications such as: pneumonia, catheter loss, diarrhea, constipation, vomiting, fluid leakage, periostotomy, tube obstruction, reflux, and myiasis. Pneumonia was the most frequent complication, occurring in 55.9% of cases. The mortality rates were 15.2% at a three-month period, 22.8% at a six-month period, and 43% at the end of study. The median survival after starting EN was 364 days. Differences among the mortality rate and neurological diagnosis, EN routes of access, and complications were not observed. The survival rate was lower in patients having inadequate nutritional status and albumin levels < 3.5 mg/dL. Conclusion: The population followed presented a high rate of complications and death at the end of the study. Diagnosis of dementia, EN routes of access, as well as complications, did not influence the survival rates. However, inadequate nutritional status according to the clinical assessment and albumin levels lower than 3.5 mg/dL significantly influenced the survival rates.

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.

Objectives To evaluate nutrient intake among adult neurofibromatosis type 1 (NF1) patients. Methods A cross-sectional study of 60 NF1 patients (29 men, 31 women) who were ≥18 y old and were evaluated from September 2012 to September 2013 in a neurofibromatosis outpatient reference center. Patients underwent nutritional assessment, including anthropometric and dietary data collection. Food intake was evaluated using three, non-consecutive, self-reported 24-h dietary recall surveys, and nutrient intake was analyzed according to the recommendations of the dietary reference intake document. Results Forty-three patients (72%) recorded energy consumption lower than the estimated daily energy requirement (EER). Men (25/29, 86.2%) were more likely to fail to meet their target EER, compared to women (18/31, 58.1%) (P = 0.016). Inadequate intake of vitamin D, magnesium, calcium, and pyridoxine was noted between men and women, and all patients consumed excess sodium. NF1 patients did not consume adequate amounts of fiber or vitamins A and C. Excessive consumption of saturated fatty acids and lipids was also observed in both male and female patients. Conclusions In this study, NF1 patients consumed an unhealthy diet that was rich in fats and sodium and lacking in fiber, vitamins, and minerals. Further studies are needed to investigate the role of these dietary and nutritional patterns in the severity of the clinical manifestations of NF1.

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.

To evaluate the occurrence of complications, as well as the survival rates, in elderly people having neurological diseases and undergoing enteral nutrition therapy (ENT).Patients aged over 60 years, assisted by a home medical service from a healthcare plan in the city of Belo Horizonte, MG, Brazil, were thoroughly evaluated. The mentioned evaluation occurred at their homes after hospital discharge with enteral nutrition (EN) after a three-month period, a six-month period, and at the end of the study. A nutritional assessment was performed along with data collection performed on the patients' electronic medical records, and interviews performed with patients' family members and caregivers.Seventy-nine patients aged 82.9 ± 10.4 years old were evaluated; of these, 49.4% presented dementia, and 50.6% presented other neurological diagnoses. 100% of patients presented a high dependence level, assessed by the Katz index. The majority of patients (91.2%) presented some complications such as: pneumonia, catheter loss, diarrhea, constipation, vomiting, fluid leakage, periostotomy, tube obstruction, reflux, and myiasis. Pneumonia was the most frequent complication, occurring in 55.9% of cases. The mortality rates were 15.2% at a three-month period, 22.8% at a six-month period, and 43% at the end of study. The median survival after starting EN was 364 days. Differences among the mortality rate and neurological diagnosis, EN routes of access, and complications were not observed. The survival rate was lower in patients having inadequate nutritional status and albumin levels3.5 mg/dL.The population followed presented a high rate of complications and death at the end of the study. Diagnosis of dementia, EN routes of access, as well as complications, did not influence the survival rates. However, inadequate nutritional status according to the clinical assessment and albumin levels lower than 3.5 mg/dL significantly influenced the survival rates.

Introdução: O crescimento da população idosa vem ocorrendo de forma acelerada em todo o mundo. Associado ao envelhecimento populacional está o aumento na prevalência de doenças crônicas. A demência merece atenção especial, pois pode provocar limitações que comprometem a qualidade de vida dos idosos. É comum pacientes com demência desenvolverem recusa alimentar e disfagia levando a baixa ingestão oral e perda de peso. Nesses casos, a nutrição enteral é frequentemente indicada. Evidências sugerem que nutrição enteral não reduz o risco de pneumonia de aspiração, não previne ou auxilia na cicatrização de úlceras de pressão, não melhora o estado nutricional, qualidade de vida ou sobrevida dos pacientes. Objetivo: Investigar a evolução de pacientes idosos com doenças neurológicas em uso de nutrição enteral. Materiais e Métodos: A amostra foi constituída de pacientes maiores de 60 anos, de ambos os sexos, com doenças neurológicas, em quem foi iniciada a nutrição enteral. Foram excluídos pacientes com neoplasias. Registraram-se variáveis demográficas, estado clínico e nutricional e desfechos clínicos complicações, internações e mortalidade. Os dados foram processados e analisados por meio dos Softwares SPSS versão 15.0 e STATA 9.0. Resultados: Dos 79 indivíduos avaliados, 26,6% eram do sexo masculino, 49,4% tinham demência, sendo 26,6% de Alzheimer. A maioria dos pacientes apresentava comprometimento do estado nutricional e 100% apresentavam dependência total para as atividades de vida diárias. No início do estudo 43% dos pacientes apresentavam úlceras de pressão. Em 41,2% destes, ocorreu cicatrização da úlcera e 20% dos que as não apresentavam, desenvolveram-nas durante o estudo. Cento e trinta e uma complicações relacionadas à nutrição enteral ocorreram em 91,2% dos pacientes. Pneumonia foi a complicação mais frequente (55,9%), sendo responsável pela maioria das internações. A mortalidade após três meses foi de 15,2%, após seis meses de 22,8% e após um período médio de 11 meses foi de 43%. Conclusão: A população estudada apresentou elevada taxa de complicações, internações e óbito ao fim de seis meses de observação. A taxa de mortalidade ao fim de 11 meses de acompanhamento em média foi elevada. Pneumonia foi a complicação mais importante levando a um maior número de internações. Diagnósticos, via de acesso e tipo de dieta não afetaram os desfechos clínicos. Avaliação nutricional segundo impressão do avaliador e albumina foram associadas com a mortalidade, mas não a avaliação antropométrica. Introduction: The aging population is occurring at a rapid pace worldwide. Population aging is associated with an increased prevalence of chronic diseases. Dementia deserves special attention, since it may cause limitations that compromise the quality of life. It is common for patients with dementia to develop food refusal and dysphagia leading to low oral intake and weight loss. In such cases, enteral nutrition is often indicated. Evidence suggests that enteral nutrition does not reduce the risk of aspiration pneumonia, will not prevent or assist in the healing of pressure ulcers, does not improve nutritional status, quality of life and patient survival. Objective: To investigate the evolution of elderly patients with neurological diseases in enteral nutrition. Materials and Methods: The sample consisted of patients older than 60 years, of both genders, with neurological disorders, in whom enteral nutrition was initiated. Patients with tumors were excluded. Demographic, clinical and nutritional status and clinical outcomes complications, hospitalizations and mortality were recorded. The data were processed and analyzed using SPSS software version 15.0 and STATA 9.0. Results: Of the 79 subjects studied, 26.6% were male, 49.4% had dementia (26.6% Alzheimer's). Most patients had poor nutritional status and 100% had complete dependence for activities of daily living. At baseline 43% of patients had pressure ulcers. In 41.2%, ulcer healing occurred and 20% of those with intact skin at start came to develop it during the study. One hundred and thirty one enteral nutrition-related complications occurred in 91.2% of patients. Pneumonia was the most frequent complication (55.9%), accounting for most admissions. The mortality rate after three months was 15.2%, 22.8% after six months and 43% after a mean period of 11 months. Conclusion: The study population had a high rate of complications, hospitalizations and death after six months of observation. The mortality rate after 11 months of average follow-up was high. Pneumonia was the most important complication leading to an increased number of hospitalizations. Diagnosis, access to enteral nutrition and type of diet did not affect clinical outcomes. Nutritional assessment of the evaluator and the albumin were associated with mortality, but not anthropometric measurements.

CAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior A Anorexia Nervosa (AN) é um transtorno alimentar psicossocial e que pode resultar em perda de peso e desnutrição devido à intensa restrição alimentar. Os métodos utilizados na avaliação da composição corporal na AN incluem antropometria e Bioelectrical Impedance Analysis (Bioimpedância Elétrica - BIA), e, para estimar o gasto energético, a Calorimetria Indireta (CI). Durante o processo de restauração do peso, os compartimentos corporais na AN recuperam-se em proporções diferentes e a avaliação isolada do Índice de Massa Corporal (IMC) não é capaz de avaliar as alterações que ocorrem na composição corporal. Objetivo: o objetivo deste trabalho foi estudar a composição corporal e o gasto energético em mulheres com AN com baixo peso e na fase de recuperação do peso, comparando-as ao um grupo de mulheres com peso de eutrofia. Métodos: trata-se de um estudo transversal, com 34 participantes do sexo feminino, sendo 18 participantes com AN e 16 voluntárias saudáveis (controles). As participantes foram submetidas a avaliações de antropometria e BIA. Foram medidos peso, altura, IMC, Índice de Massa Livre de Gordura (IMLG), Índice de Massa Gorda (IMG), Massa Muscular Apendicular (MMA), Massa Livre de Gordura (MLG), Massa Gorda (MG), Água Corporal Total (ACT), Resistência (R), Reatância (Xc) e Ângulo de Fase (AF). A Taxa Metabólica de Repouso (TMR) foi estimada pela CI e também por meio de equações preditivas de Harris e Benedict (1918), de Shebendach (1995), da FAO/WHO/UNU e de Buchholz (2003). Foram separadas em dois grupos as participantes com AN. As selecionadas para o grupo pacientes com AN, na fase ativa (ANat), tinham o IMC < 18,5 kg/m2 e/ou adequação do peso < 85% do peso ideal e da presença de sintomas-chave (medo intenso de ganhar peso e perturbação da imagem corporal). As pacientes com AN, na fase recuperada (ANrec), tinham o quadro prévio de AN com valor do IMC ≥ 18,5 kg/m2 e/ou adequação do peso ≥ 85% do peso ideal mantidos por período sustentável e com os sintomas-chave citados acima em remissão parcial ou total. Os sintomas-chave foram definidos de acordo com o Manual Diagnóstico e Estatístico dos Transtornos Mentais, 5ª edição (APA, 2013) e segundo avalição da equipe multidisciplinar (psicólogos e psiquiatras) da instituição UFMG. Foram analisadas as diferenças das variáveis entre os grupos ANat x ANrec x CRT (Grupo Controle) com o software Statistical Package for Social Science (SPSS) versão 25. Para análise de comparação da composição corporal, realizou- se comparação de médias e medianas entre os grupos e construíram-se curvas ROC (Reciever Operating Characteristic) com as variáveis IMC, IMLG, IMG, R, Xc, AF, MG e ACT, tendo como grupos de comparação ANat x CTR e ANrec x CTR. Foram realizadas regressões ordinais entre as variáveis independentes relacionadas à composição corporal e à alocação das pacientes em cada um dos três grupos do estudo (ANat, ANrec ou CTR). Também foram construídos modelos de regressão linear para avaliar a correlação entre as variáveis independentes de composição corporal e a TMR ajustada pela MLG. Para avaliar o uso das equações preditivas na estimativa da TMR, foi realizada a comparação das médias e das medianas das equações, e, a partir de gráficos de Bland-Altman, avaliou-se a concordância entre os métodos. Através da Análise de Variância (ANOVA) foram analisadas as distribuições das diferenças percentuais e sua correlação com as médias. Foram aplicados teste t de Student para amostras únicas para as diferenças percentuais obtidas, para cada equação e para cada condição clínica. Resultados: das características descritivas, não houve diferença significativa da idade entre ANat, ANrec e controles (25,0 ± 8,6 anos; 22,1 ± 6,9 anos; 25,8 + 5,1 anos, P = 0,335), do tempo de diagnóstico entre ANat e ANrec (85,0 ± 89,0 x 44,6 ± 48,5 meses, P = 0,470). O IMC considerado a principal medida antropométrica de diagnóstico e acompanhamento nutricional na AN foi diferente entre os grupos ANat x ANrec e (15,9 ± 2,6 kg/m2 x 20,3 ± 2,2 kg/m2, P = 0,000 após correção de Bonferroni). Não houve diferença estatística entre os grupos ANrec e controles (20,3 ± 2,2 kg/m2 x 22,28 ± 1,75 kg/m2). As médias da MLG (kg) (31,01 + 4,56 kg em ANat; 37,59 + 1,89 kg em ANrec e 44,56 + 4,64 kg CTR) mostraram diferenças significativas entre a duas fases da AN e controles. O AF foi capaz distinguir ANrec e controles saudáveis (B = 0,123, P = 0,004 ou 0,091, P = 0,008 em dois modelos diferentes; estimativa). A ACT e a R (kg) mostraram-se capazes de distinguir os grupos de estudo. O IMLG não permaneceu nos modelos finais de regressão. As medidas da TMR foram significativamente menores nas pacientes com AN de baixo IMC e baixa MLG. O AF (Beta = 141,28; IC: 99,99 - 182,56; P < 0,001) e o IMC (Beta = 48,55; IC = 32,60 - 64,51; P < 0,001) mostraram importante correlação com a TMR corrigida pela MLG (R2 = 0,699). Na avaliação do gasto energético, a TMR calculada pela equação de Shedenbach, no grupo ANrec, foi significativamente diferente da obtida pela CI (CI: 1337,55 + 352,66; TMRShedenbach 1025,08 + 95.21; P =0,003). No grupo ANat (TMR-CI = 978±133 kcal x TMRShedenbach = 781,98 + 46,80 kcal; P = 0,513), a equação de Shedenbach subestimou os valores da CI. De maneira geral, houve diferença da TMR estimada pelas equações preditivas entre a CI nas pacientes com AN. Conclusão: estes resultados mostram a importância de se considerar outros parâmetros na avaliação do estado nutricional em mulheres com AN. As evidências da literatura e os resultados mencionados neste trabalho reforçam que o AF pode ser uma medida para diferenciar o estado nutricional de mulheres com AN. Anorexia Nervosa (AN) is a complex eating disorder that combines mental and nutritional state abnormalities and results in severe weight loss and risk of malnutrition due to intense dietary restriction. The methods used to assess body composition in AN include anthropometry and electrical bioimpedance, and indirect calorimetry to estimate energy expenditure. During the weight restoration process, the body compartments in AN recover in different proportions and the isolated assessment of the body mass index is not able to assess the changes that occur in body composition. Objective: The aim of this thesis was to evaluate body composition and energy expenditure in AN patients in the active phase and in the recovery phase, comparing them to control group and seeking to verify, in greater depth, what happens to patients in recovery. Methods: This is an observational and cross-sectional study, with 34 female participants, 18 anorexics and 16 control subjects (CTR). Participants underwent anthropometric and electrical bioimpedance (BIA) assessments. Weight, height, body mass index (BMI), fat-free mass index (FFMI), fat mass index (FMI), appendicular muscle mass (AMM), fat-free mass (FFM), mass fat (MF), total body water (TBW), resistance (R), reactance (Xc) and phase angle (PA) were performed. To estimate resting metabolic rate (RMR) the predictive equations of Harris and Benedict (1918), Shebendach (1995), FAO/WHO (1985) and Buchholz (2003), and indirect calorimetry (CI) were used, as a reference method. Patients with AN were separated into two groups, according to the following criteria: patients with active- phase anorexia nervosa (APAN) - those with BMI < 18.5 kg/m2 and/or weight adequacy < 85% of ideal weight and presence of key symptoms (intense fear of gaining weight and body image disturbance); patients with anorexia nervosa in the recovered phase (ANrec) – those with previous AN, BMI value ≥ 18.5 kg/m2 and/or weight adequacy ≥ 85% of ideal weight maintained for a sustainable period, in partial or total remission of the key symptoms cited above. The key symptom was defined according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition, according to the assessment of the multidisciplinary team (psychologists and psychiatrists) of the institution. The differences of variables between the ANat x ANrec x CTR groups were analyzed with the Statistical Package for Social Science (SPSS) software version 25. For the analysis of body composition comparison, comparison of means and medians between groups was performed and ROC (receiver operating characteristic) curves were constructed. with the variables BMI, FFMI, FMI R, Xc, PA, FM, AMM, and ACT, with ANat x CTR and ANrec x CTR as comparison groups. Ordinal regressions were performed to establish correlations between the independent variables related to body composition and the allocation of patients in each of the 3 study groups (ANat, ANrec or CTR), according to previously defined criteria, as a dependent variable. Linear regression models were built to assess the correlation between independent variables of body composition and RMR, preceded by adjustment by FFM. To evaluate the use of predictive equations in estimating the RMR, using indirect calorimetry as a reference, means and medians of the 4 equations were compared, and the agreement between the predictive equations was evaluated using Bland-Altman graphs. and indirect calorimetry. Finally, we analyzed through Analysis of Variance (ANOVA) the distributions of percentage differences and their correlation with the means to verify the proportionality bias. At the end, single-sample t tests were applied for the percentage differences obtained, for each equation and for each clinical condition, to verify to what extent, mean differences were different from zero. Results: From the descriptive characteristics, there was no significant age difference between ANat, ANrec and controls (25.0 ± 8.6 years, 22.1 ± 6.9 years, 25.8 + 5.1 years P= 0.335), of the time of diagnosis between ANat and ANrec (85.0 ± 89.0 x 44.6 ± 48.5 months, P= 0.470). BMI, considered the main anthropometric measure of diagnosis and nutritional monitoring in AN, was different between ANat x ANrec and (15.9 ± 2.6 kg/m2 x 20.3 ± 2.2 kg/m2, P= 0.000 after Bonferroni correction), but there was no statistical difference between ANrec and controls (20.3 ± 2.2 kg/m2 x 22.28 ± 1.75 kg/m2). The FFM means (kg) (31.01 + 4.56 kg in ANt; 37.59 + 1.89 kg in ANrec and 44.56 + 4.64 kg CTR showed significant differences between the two phases of AN and controls. Among the main findings, after the ordinal regression analysis, the ability of the PA to distinguish ANrec and healthy controls stands out (estimate B = 0.123, P= 0.004 or 0.091, P= 0.008 in 2 different models). ACT and R resistance (kg) proved to be able to distinguish the study groups. FFMI did not remain in the final regression models. The phase angle (Beta = 141.28; CI: 99.99 - 182.56; P< 0.001) and the BMI (Beta = 48.55; CI = 32.60 - 64.51; P< 0.001) showed important correlation with the MRL corrected by FLM (R2= 0.699). TMR measurements were significantly lower in anorexics with low body mass and low FFM. In the evaluation of energy expenditure, the RMR calculated by the Shedenbach equation in the ANrec group was significantly different from that obtained by the CI (CI: 1337.55+352.66; RMRShedenbach 1025.08+95.21; P= 0.003), that is, it led to underestimation of the TMR of patients with anorexia nervosa in the recovery phase. However, it proved to be adequate for the calculation of RMR in ANat patients. (RMR - CI = 978±133 kcal x RMRShedenbach = 781.98 + 46.80 kcal; P= 0.513). In general, there was a difference in the RMR estimated by the predictive equations between indirect calorimetry in AN patients. Conclusion: These results show the importance of not considering only weight and BMI as the only parameters for assessing the nutritional status of anorexic patients. Important changes in body composition were observed in recovered anorexic patients despite the normalization of BMI The evidence in the literature and the results mentioned in this research reinforce that PA can be a good marker of the alterations involved in this disease.