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

Increased N200 and P300 latencies in cognitively impaired elderly carrying ApoE ε-4 allele.

OBJECTIVE: To compare the results of neuropsychological tests, evoked potentials N200 and P300 and polymorphisms of ApoE and BDNF rs6265 between patients with normal cognition and those with mild cognitive impairment (MCI) and Alzheimer's dementia (AD). METHODS: This is a cross-sectional study of elderly individuals with normal cognition and those with MCI and AD, who were submitted to evoked potential tests (N200 and P300) by means of hearing stimuli based on the auditory oddball paradigm. Genotyping was obtained by using the real-time PCR technique. RESULTS: Sixty-five patients were evaluated as follows: 14 controls, 34 with MCI and 17 with AD. N200 latency and P300 latency and amplitude were not associated with MCI and AD diagnosis. Patients with cognitive impairment (MCI or AD) showed increase in the latencies of P300 and N200. BNDF gene was not associated with cognitive impairment. CONCLUSION: Latencies of N200 and P300 increased in cognitively impaired patients with the presence of ApoE ε-4 allele.

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.

Lower fasting blood glucose in neurofibromatosis type 1.

Studies indicate a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). Fasting blood glucose (FBG) level is the main criterion used to diagnose DM and glucose intolerance. Therefore, this study compared FBG level between adults with NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outpatient Reference Center of the Clinics Hospital of the Federal University of Minas Gerais in Brazil. The selected patients with NF1 were matched to non-NF1 controls selected from the Brazilian Longitudinal Study of Adult Health according to sex, age (range, 35-74 years) and BMI at a ratio of 1:3. In both groups, individuals with DM were excluded. Median FBG level in the NF1 group (86 mg/dl (range, 56-127 mg/dl)) was lower than that in the non-NF1 control group (102 mg/dl (range, 85-146 mg/dl)) (P<0.001). Prevalence of FBG level ≥100 mg/dl in the NF1 group (16%) was lower than that in the non-NF1 control group (63%) (P<0.05). The chance of a high FBG level was 89% lower in the NF1 group (odds ratio, 0.112; 95% CI, 0.067-0.188) (P<0.05). In conclusion, adults with NF1 showed a lower FBG level and a lower prevalence of high FBG level compared with non-NF1 controls.

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.

Nutrient intake in neurofibromatosis type 1: A cross-sectional study.

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.

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. .

Neuropsychological impairments in elderly Neurofibromatosis type 1 patients.

Cognitive performance is compromised in Neurofibromatosis type 1 (NF1) patients, but neuropsychological data including elderly NF1 are extremely sparse. We compared the cognitive performance of a small elderly NF1 group (n = 5) with an age-matched healthy control group (n = 49). NF1 group performed worse than control group on a global cognitive impairment task, verbal working memory, and visuospatial functioning. The results suggest that cognitive impairment is an important feature of NF1 across lifespan, including elderly individuals. Future studies approaching the NF1 cognitive profile might benefit from looking at the mechanisms linked to the age-related aspects of cognitive decline.

Auditory temporal processing deficits and language disorders in patients with neurofibromatosis type 1.

UNLABELLED: Previous findings from a case report led to the argument of whether other patients with neurofibromatosis type 1 (NF1) may have abnormal central auditory function, particularly auditory temporal processing. We hypothesized that it is associated with language and learning disabilities in this population. The aim of this study was to measure central auditory temporal function in NF1 patients and correlate it with the results of language evaluation tests. A descriptive/comparative study including 25 NF1 individuals and 22 healthy controls compared their performances on audiometric evaluation and auditory behavioral testing (Sequential Verbal Memory, Sequential Non-Verbal Memory, Frequency Pattern, Duration Pattern, and Gaps in Noise Tests). To assess language performance, two tests (phonological and syntactic awareness) were also conducted. The study showed that all participants had normal peripheral acoustic hearing. Differences were found between the NF1 and control groups in the temporal auditory processing tests [Sequential Verbal Memory (P=0.009), Sequential Non-Verbal Memory (P=0.028), Frequency Patterns (P=0.001), Duration Patterns (P=0.000), and Gaps in Noise (P=0.000)] and in language tests. The results of Pearson correlation analysis demonstrated the presence of positive correlations between the phonological awareness test and Frequency Patterns humming (r=0.560, P=0.001), Frequency Patterns labeling (r=0.415, P=0.022) and Duration Pattern humming (r=0.569, P=0.001). These results suggest that the neurofibromin deficiency found in NF1 patients is associated with auditory temporal processing deficits, which may contribute to the cognitive impairment, learning disabilities, and attention deficits that are common in this disorder. LEARNING OUTCOMES: The reader will be able to: (1) describe the auditory temporal processing in patients with neurofibromatosis type 1; and (2) describe the impact of the auditory temporal deficits in language in this population.