Dietary patterns of Brazilian adults with neurofibromatosis type 1 / Patrones dietéticos de adultos brasileños con neurofibromatosis tipo 1

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement such as bone, muscle, endocrine, ophthalmologic, cardiovascular, central and peripheral nervous system, cognitive capacity, voice, and oral motor disorders. Nutritional studies in individuals with NF1 have been performed recently. While a previous study showed an inadequate nutrient intake in patients with NF1, the dietary patterns of this population have not yet been widely studied. This study aimed to characterize dietary patterns in Brazilian adults with NF1. Sixty NF1 individuals (51.7% women), ≥18 years of age underwent nutritional assessment including laboratory analysis, anthropometrics, and eating habits recorded on a food frequency questionnaire. Cluster analysis was used to distinguish between dietary patterns. Hypothesis tests were used to compare data. Two groups with distinct patterns were identified, "Healthy" (46.7%) and "Western" (53.3%). These groups were similar in most of the socioeconomic, anthropometric, demographic and laboratory parameters evaluated. However, the upper-arm total area and upper-arm muscle area (UAMA) were lower in the Western group than those in the Healthy group [59.8 (25.7) cm2 versus 65.6 (28.3) cm2, P=0.049; 35.6±12.4 cm2 versus 43.8±15.0 cm2, P=0.024, respectively]. In this study, most individuals with NF1 had a Western dietary pattern and this group showed a lower UAMA, which may indicate a potential contribution, even in part, of diet in the muscle phenotype in this population. This association between diet and muscle in NF1 individuals requires investigation in further studies.

RESUMEN La neurofibromatosis tipo 1 (NF1) es una enfermedad genética autosómica dominante caracterizada por la afectación multisistémica, alterando los sistemas óseo, muscular, endocrino, oftálmico, cardiovascular, nervioso central y periférico así como las capacidades cognitivas. Un estudio previo señaló una ingesta inadecuada de nutrientes en pacientes con NF1, pero los patrones dietéticos de esta población aún no han sido estudiados ampliamente. El objetivo de este est udio es caracterizar los patrones dietéticos en brasileños con NF1. Sesenta individuos con NF1 (51,7% mujeres) ≥18 años se sometieron a una evaluación nutricional que incluyeron análisis de laboratorio, antropometría y hábitos alimentarios registrados en un cuestionario de frecuencia alimentaria. El análisis de conglomerados se utilizó para distinguir los patrones dietéticos; las pruebas de hipótesis para comparar datos. Se identificaron dos grupos con patrones distintos, denominados Saludables (46,7%) y Occidentales (53,3%). Estos grupos fueron similares en la mayoría de los parámetros socioeconómicos, antropométricos, demográficos y de laboratorio evaluados. Sin embargo, las áreas total braquial (ATB) y muscular braquial (AMB) fueron menores en el grupo occidental que en el grupo sano [59,8 (25,7) cm2 y 65,6 (28,3) cm2, P= 0,049; 35,6 ± 12,4 cm2 y 43,8 ± 15,0 cm2, P= 0,024, respectivamente]. En este estudio, la mayoría de las personas con NF1 habían consumido un patrón dietético occidental y este grupo presentó un AMB menor, lo que puede indicar una contribución potencial, incluso en parte, de la dieta en el fenotipo muscular en esta población. Esta asociación entre dieta y músculo en personas con NF1 requiere investigaciones en estudios adicionales.

Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake.

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.

Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake

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.

Increased resting metabolism in neurofibromatosis type 1.

BACKGROUND & AIMS: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease that is characterized by neurocutaneous changes with multisystem involvement. A previous study with adults with NF1 revealed that changes in total energy expenditure were related to food consumption and body composition. Resting energy expenditure (REE), a measure of energy that the body expends to maintain vital functions, has not been assessed in NF1 populations. This study aimed to assess REE in individuals with NF1 using indirect calorimetry (IC) and evaluate its correlation with body composition and muscle strength. METHODS: Twenty-six adults with NF1 (14 men) aged 18-45 years underwent IC for assessing REE, respiratory quotient (RQ), and substrate utilization. Body composition was assessed by dual energy X-ray absorptiometry. Weight, height, and waist circumference (WC) were also measured. Maximum muscular strength (Smax) was measured by handgrip test using a dynamometer. Patients in the NF1 group were compared to 26 healthy controls in the control group, who were matched by sex, age, body mass index (BMI), and physical activity level. RESULTS: There were no differences in weight, WC, fat mass, and body fat percentage (BFP). Appendicular lean mass (ALM) adjusted by BMI (ALMBMI) (0.828 ± 0.161 versus 0.743 ± 0.190; P = 0.048) and Smax (37.5 ± 10.6 versus 31.1 ± 12.2; P = 0.035) was lower in the NF1 group than in the control group. No differences in body composition, strength, and anthropometric parameters were observed in men, but women with NF1 presented lower body surface area (BSA), lean body mass (LBM), ALM, ALMBMI, and Smax. REE adjusted by weight, LBM, or ALM was higher in the NF1 group than in the control group (medians, 21.9 versus 26.3, P = 0.046; 36.5 versus 41.1, P = 0.012; and 82.3 versus 92.4, P = 0.006, respectively), and these differences were observed only among women. RQ was lower in the NF1 group than in the control group (0.9 ± 0.1 versus 0.8 ± 0.1; P = 0.008), revealing that individuals with NF1 oxidized more lipids and fewer carbohydrates than controls. REE correlated negatively with BFP and positively with weight, height, BMI, WC, BSA, LBM, ALM, ALMBMI, bone mineral content, and Smax. CONCLUSIONS: Individuals with NF1, particularly women, presented with increased REE (adjusted by weight, LBM, or ALM) and lower RQ compared to healthy controls. These findings were associated with lower ALMBMI and Smax, possibly indicating premature sarcopenia in this population. Further investigation concerning energy metabolism in NF1 and gender differences may be helpful in explaining underlying mechanisms of these changes.

Amusia and its electrophysiological correlates in neurofibromatosis type 1.

INTRODUCTION: Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance. OBJECTIVE: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity. METHODS: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia - short version. The integrity of cortical primary auditory processing areas was evaluated by evoked potential mismatch negativity. RESULTS: Amusia was correlated with NF1 (p = 0.001, odds ratio = 42.0, confidence interval 4.5-39.6). Patients with NF1 exhibited a greater prevalence of amusia than healthy controls (67% vs. 4.5%) and difficulties in both melodic and temporal music perception. Worse performance on the Montreal Battery Evaluation of Amusia was correlated with a greater mismatch negativity latency in NF1 group. CONCLUSIONS: Amusia is a common feature in NF1 and may result from impairment of activity in primary auditory processing areas.

Amusia and its electrophysiological correlates in neurofibromatosis type 1 / Amusia e seus correlatos eletrofisiológicos na neurofibromatose tipo 1

ABSTRACT Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance. Objective: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity. Methods: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia - short version. The integrity of cortical primary auditory processing areas was evaluated by evoked potential mismatch negativity. Results: Amusia was correlated with NF1 (p = 0.001, odds ratio = 42.0, confidence interval 4.5-39.6). Patients with NF1 exhibited a greater prevalence of amusia than healthy controls (67% vs. 4.5%) and difficulties in both melodic and temporal music perception. Worse performance on the Montreal Battery Evaluation of Amusia was correlated with a greater mismatch negativity latency in NF1 group. Conclusions: Amusia is a common feature in NF1 and may result from impairment of activity in primary auditory processing areas.

RESUMO Déficits de processamento auditivo são comuns em pessoas com neurofibromatose tipo 1 (NF1), que também se queixam frequentemente de dificuldades no desempenho musical. Objetivos: Nós investigamos se a NF1 poderia estar associada à amusia, assim como a algum comprometimento da atividade do córtex auditivo primário. Métodos: Dezoito pessoas com NF1 e 22 controles sem a doença, pareados por idade, sexo e nível educacional, foram avaliados por meio da versão reduzida da Bateria de Avaliação de Amusia de Montreal (MBEA). A integridade das áreas corticais primárias do processamento auditivo foi avaliada através do potencial evocado auditivo mismacth negativity (MMN). Resultados: A amusia correlacionou-se com a NF1 (p = 0,001, odds ratio = 42,0, intervalo de confiança 4,5-39,6). Os pacientes com NF1 apresentaram maior prevalência de amusia do que os controles saudáveis (67% vs. 4,5%) e dificuldades na percepção musical, tanto melódica quanto temporal. O desempenho pior na MBEA foi correlacionado com maiores latências do MMN no grupo NF1. Conclusões: A amusia é uma característica comum na NF1 e pode resultar do comprometimento da atividade de áreas de processamento auditivo primário.

Increased insulin sensitivity in individuals with neurofibromatosis type 1.

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.

Increased insulin sensitivity in individuals with neurofibromatosis type 1

ABSTRACT 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

Advanced dementia in a sample of Brazilian elderly: Sociodemographic and morbidity analysis.

INTRODUCTION:: To investigate the sociodemographic and morbidity profile of advanced dementia patients and sociodemographic data of their primary caregivers. METHOD:: Data was obtained from 67 elderly recruited for an observational prospective study, through interviews performed with primary caregivers. For statistical analysis, the Statistical Package for the Social Sciences (SPSS(r)) for Windowsr, version 19.0. was employed. RESULTS:: Advanced dementia patients were mostly women, widows, and non-institutionalized, with low-income. An elevated rate of stroke, sarcopenia, and pressure ulcers in this population is noted. Caregivers were mostly women, married, children of the studied patients, and unemployed. Only one third of caregivers were hired for the task. CONCLUSION:: Patients with advanced dementia present a high morbidity profile, low income, and depend on the care given by family members, mostly unemployed daughters.

Advanced dementia in a sample of Brazilian elderly: Sociodemographic and morbidity analysis / Demência avançada em uma amostra de idosos brasileiros: análise sociodemográfica e morbidades

Summary Introduction: To investigate the sociodemographic and morbidity profile of advanced dementia patients and sociodemographic data of their primary caregivers. Method: Data was obtained from 67 elderly recruited for an observational prospective study, through interviews performed with primary caregivers. For statistical analysis, the Statistical Package for the Social Sciences (SPSS(r)) for Windowsr, version 19.0. was employed. Results: Advanced dementia patients were mostly women, widows, and non-institutionalized, with low-income. An elevated rate of stroke, sarcopenia, and pressure ulcers in this population is noted. Caregivers were mostly women, married, children of the studied patients, and unemployed. Only one third of caregivers were hired for the task. Conclusion: Patients with advanced dementia present a high morbidity profile, low income, and depend on the care given by family members, mostly unemployed daughters.

Resumo Objetivo: investigar o perfil sociodemográfico e de morbidade de pacientes com demência avançada e dados sociodemográficos de seus respectivos cuidadores primários. Método: foram obtidos dados de 67 idosos recrutados para um estudo observacional, prospectivo, não randomizado e não cego de pacientes em fase avançada de demência, por meio de entrevistas realizadas com os cuidadores primários. Para as análises estatísticas, foi utilizado o Statistical Package for the Social Sciences (SPSSr) para Windowsr, na versão 19.0. Resultados: a maioria dos pacientes com demência avançada é do sexo feminino, viúva, não institucionalizada e de baixa renda. Destacam-se as elevadas taxas de acidente vascular encefálico, sarcopenia e úlceras por pressão. A maioria dos cuidadores são do sexo feminino, casados, filhos do paciente e desempregados. Somente um terço dos pacientes apresenta cuidador contratado. Conclusão: os pacientes com demência avançada apresentam elevado grau de morbidades, baixa renda e são dependentes de cuidados de familiares, geralmente filhas desempregadas.

Reflexões sobre o Ensino de Bioética e Cuidados Paliativos nas Escolas Médicas do Estado de Minas Gerais, Brasil / Reflections on the Teaching of Bioethics and Palliative Care across Medical Schools in the State of Minas Gerais, Brazil

RESUMO Este artigo analisa a atual situação do ensino de bioética e cuidados paliativos nas escolas médicas do Estado de Minas Gerais, Brasil. O ensino de cuidados paliativos na graduação é importante para se compreender a relação escola-médico-equipe interdisciplinar de assistência à saúde no que diz respeito à terminalidade da vida humana. O estudo exploratório de caso e de natureza qualitativa utilizou três instrumentos operacionais: questionário, entrevista e documento informatizado. Foram estudadas 28 escolas médicas para se verificar como é realizado o ensino de bioética e cuidados paliativos. Foi também aplicado questionário a professores para avaliar o ensino desta temática, além de trabalho de campo, com aplicação de questionário estruturado a um grupo de alunos, em duas destas escolas, para aprofundamento do estudo, em dois momentos distintos da formação dos alunos, o que permitiu uma discussão crítica e transversal da formação acadêmica. Os resultados mostraram que o conhecimento de bioética com ênfase em cuidados paliativos e com a formação de médicos que atendam às necessidades emergentes desta área da saúde não está suficientemente contemplado nas escolas médicas do Estado de Minas Gerais, assim como não se observa uma correlação entre o ensino de bioética e o ensino de cuidados paliativos. Propõe-se uma reflexão e uma ação programática para a formação docente e subsequente inserção curricular específica e de caráter longitudinal do ensino de bioética e cuidados paliativos nos cursos de graduação das escolas médicas de Minas Gerais.

ABSTRACT This paper reviews the current status of the teaching of bioethics and palliative care in medical schools across the state of Minas Gerais, Brazil. The teaching of palliative care in the state’s medical courses is paramount to students’ understanding of the medicine-physician-interdisciplinary healthcare team’s handling of the terminal nature of human life. A case study of a qualitative nature was employed in order to analyze 28 medical schools registered by the Ministry of Education and Culture, with structured interviews conducted in the aim of identifying how palliative care is taught across the medical courses. Field work was therefore conducted via these structured interviews held with students in two medical schools. Thereafter, students in their final year of the medical course and on hospital-school internships in two medical schools were interviewed. The results show that those responsible for the curricula are unconcerned about knowledge dissemination in bioethics, with their focus instead on palliative care and on the training of physicians to provide support to emergent needs in this field of science. Considering the lack of concern over the teaching of bioethics with a focus on palliative care in the medical schools’ formal curricula, we propose a reflection and programmatic action on the training of teachers in this field of knowledge, as well as the insertion of palliative care teaching into the schools’ degree curricula.

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.

Avaliação da motricidade orofacial em indivíduos com neurofibromatose tipo 1 / Orofacial myofunctional evaluation in individuals with neurofibromatosis type 1

OBJETIVO: descrever e caracterizar as alterações da motricidade orofacial de indivíduos com neurofibromatose tipo 1 (NF1) e correlacionar as alterações encontradas com manifestações clínicas da neurofibromatose tipo 1, mais especificamente com a redução da força muscular. MÉTODOS: participaram deste estudo, 24 indivíduos com neurofibromatose tipo 1, sendo 12 do sexo masculino e 12 do sexo feminino, com idades entre 14 e 50 anos, pareados por sexo e idade, com indivíduos voluntários não acometidos pela doença. Todos os indivíduos foram avaliados quanto à força máxima de preensão manual (Fmáx) e submetidos à avaliação da motricidade orofacial utilizando o protocolo MBGR. RESULTADOS: os principais achados deste estudo demonstraram que os indivíduos com neurofibromatose tipo 1 apresentaram maior prevalência de alterações das estruturas fonoarticulatórias e diferenças significantes (p < 0,05) quando comparados ao grupo controle em relação à postura corporal e de órgãos fonoarticulatórios, mobilidade, tônus, dor à palpação e funções estomatognáticas. O escore total do teste também apresentou coeficiente de correlação de Spearman significantes com nível de significância menos que 5% em relação a Fmáx. CONCLUSÃO: os indivíduos com NF1 apresentaram maior prevalência das alterações fonoarticulatórias com repercussões significantes sobre as funções de respiração, mastigação, deglutição e fala. Estas alterações estiveram relacionadas com a redução global da Fmáx. .

PURPOSE: to describe and characterize alterations in orofacial function in individuals with neurofibromatosis type 1 and to correlate these changes with the clinical manifestations of neurofibromatosis type 1 and muscular strength. METHODS: the study included 24 individuals with neurofibromatosis type 1, 12 men and 12 women, aged 14-50 years, matched by sex and age with volunteers not affected by the disease. All subjects were evaluated for maximal handgrip force and, using the MBGR protocol, for orofacial motricity. RESULTS: individuals with neurofibromatosis type 1 had a higher prevalence of abnormal phono-articulatory patterns and significant differences (p < 0.05) relative to controls in body posture, speech organs, mobility, muscle tone, pain on palpation, and stomatognathic functions. Moreover, MBGR test score totals showed significant (p < 0.05) Spearman's correlation coefficients with maximal handgrip force. CONCLUSION: patients with neurofibromatosis type 1 had a relatively high prevalence of phono-articulatory changes and significant impacts on the functions of breathing, chewing, swallowing, and speaking. These alterations were correlated with a disease-related reduction of systemic muscular strength. .

Representações sociais de pacientes e familiares sobre neurofibromatose tipo 1 / Social representations of patients and relatives regarding Type 1 Neurofibromatosis

A Neurofibromatose do tipo 1 (NF1) é uma doença com manifestações variadas. Poucos estudos abordaram os aspectos psicológicos associados a ela sob a ótica daqueles que têm NF1 ou de seus familiares. Neste estudo foram entrevistados 46 sujeitos, 28 pessoas com NF1 e 18 familiares, buscando-se identificar a compreensão da realidade cotidiana vivenciada por esses dois grupos e as possíveis diferenças entre eles, a partir do aporte teórico das representações sociais. O tratamento dos dados foi realizado com base na análise de conteúdo clássica, sendo organizadas em categorias e subcategorias a partir de seu sentido. Os resultados mostraram que a distribuição quantitativa por categorias teve frequências semelhantes para os grupos, mas diferenças qualitativas importantes foram observadas no que se refere ao sentido das respostas. Dificuldade na obtenção de informações sobre NF1 somado a poucas menções a redes sociais de apoio às pessoas com a doença ou seus familiares contribuíram para a identificação de um cenário de invisibilidade social em torno da NF1. Tais aspectos evidenciam a necessidade de maiores investimentos em estudos e intervenções relacionados à NF1, a fim de ampliar as condições de enfrentamento social da doença por parte daqueles que a vivenciam.

Type 1 Neurofibromatosis (NF1) is a disease with diverse manifestations. Few studies have addressed the psychological aspects associated with it from the perspective of those who have NF1 or their relatives. In this study 46 subjects were interviewed, 28 people with NF1 (Group P) and 18 relatives (Group F) seeking to identify the understanding of the day-to-day reality experienced by these two groups and possible distinctions between them, based on the social representations of each group. Data analysis was conducted using Classic Content Analysis. The respondents' answers were organized into categories and subcategories based on their meanings. The results revealed that the quantitative distribution of the categories had similar frequencies for both groups. However, important qualitative differences were observed in terms of the meanings of the answers. Difficulty in obtaining information about NF1 along with few references about social support networks by people with the disease or their family members contributed to the identification of a veil of social invisibility around NF1. These aspects highlight the need for greater investment in research and intervention related to NF1 in order to expand the social coping conditions for those afflicted with the disease.

Doenças crônicas, cognição, declínio funcional e Índice de Charlson em idosos com demência / Chronic diseases, cognition, functional decline, and the Charlson index in elderly people with dementia

OBJETIVO: Este estudo avaliou a associação entre as doenças crônico-degenerativas e o declínio funcional, a cognição e a predição da mortalidade. MÉTODOS: Um estudo transversal foi realizado em um Serviço de Geriatria em Belo Horizonte, Brasil, envolvendo 424 pacientes subdivididos em dois grupos: controle e com demência. Foram analisados dados sociodemográficos e ambientais, doenças crônicas degenerativas, o Índice de Charlson, dados sobre a demência, funcionais e de cognição. RESULTADOS: Após análise univariada, houve maior frequência de acidente vascular encefálico (AVE), incontinência urinária, constipação intestinal e distúrbio do sono no grupo demência, enquanto na análise multivariada houve maior número de fatores ambientais e distúrbio do sono. Quanto ao Mini Exame do Estado Mental (MEEM), pacientes com doença pulmonar obstrutiva crônica (DPOC), AVE e insuficiência cardíaca apresentaram escores mais baixos. Em relação ao Índice de Charlson, houve maior pontuação no grupo com demência. CONCLUSÃO: As comorbidades foram associadas ao declínio funcional nos idosos com demência.

OBJECTIVE: To assess the association between chronic degenerative diseases and functional decline, cognition, and mortality prediction. METHODS: A cross-sectional study was conducted in a geriatrics service in Belo Horizonte, Brazil, involving 424 patients subdivided into two groups: control and dementia. The study analyzed socio-demographic and environmental data, chronic degenerative diseases, the Charlson index, and data on functional and cognitive dementia. RESULTS: After a univariate analysis, there was a greater frequency of cerebrovascular accident (CVA), urinary incontinence, constipation, and sleep disorder in the dementia group, while the multivariate analysis showed a greater number of environmental factors and sleep disorder. Regarding the Mini Mental State Examination (MMSE), patients with chronic obstructive pulmonary disease (COPD), CVA, and heart failure presented lower scores. There was a greater score in the dementia group with regarding the Charlson index. CONCLUSION: These comorbidities were associated with the functional decline in elderly people with dementia.

Chronic diseases, cognition, functional decline, and the Charlson index in elderly people with dementia.

OBJECTIVE: To assess the association between chronic degenerative diseases and functional decline, cognition, and mortality prediction. METHODS: A cross-sectional study was conducted in a geriatrics service in Belo Horizonte, Brazil, involving 424 patients subdivided into two groups: control and dementia. The study analyzed socio-demographic and environmental data, chronic degenerative diseases, the Charlson index, and data on functional and cognitive dementia. RESULTS: After a univariate analysis, there was a greater frequency of cerebrovascular accident (CVA), urinary incontinence, constipation, and sleep disorder in the dementia group, while the multivariate analysis showed a greater number of environmental factors and sleep disorder. Regarding the Mini Mental State Examination (MMSE), patients with chronic obstructive pulmonary disease (COPD), CVA, and heart failure presented lower scores. There was a greater score in the dementia group with regarding the Charlson index. CONCLUSION: These comorbidities were associated with the functional decline in elderly people with dementia.

Ensino de bioética e cuidados paliativos nas escolas médicas do Brasil / The teaching of bioethics and palliative care in brazilian medical schools

Este artigo avalia a atual situação curricular da Bioética e Cuidados Paliativos nas escolas médicas brasileiras. A articulação entre o ensino de Bioética e Cuidados Paliativos tem sido pouco investigada na área da saúde. Os profissionais responsáveis pela elaboração dos currículos parecem não se preocupar com o conhecimento dessas áreas e com a formação de profissionais que atendam às necessidades emergentes do campo da Bioética, com ênfase em cuidados paliativos.

This paper aims to assess the current status of the teaching of Bioethics and Palliative Care in Brazilian medical schools. The link between the teaching of bioethics and palliative care has been neglected by investigation in the healthcare field. The professionals responsible for the development of curricula do not seem to be concerned about knowledge on these topics and the training of professionals to meet the needs of the emerging field of bioethics, with a focus on palliative care.

Occurrence of complications and survival rates in elderly with neurological disorders undergoing enteral nutrition therapy.

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.

Sobrevida e complicações em idosos com doenças neurológicas em nutrição enteral / Occurrence of complications and survival rates in elderly with neurological disorders undergoing enteral nutrition therapy

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.