Sleep Quality in CrossFit: A Cross-Sectional Study.

Objective Based on the relationship between sleep and sports performance, the present study aimed to evaluate sleep quality and excessive daytime sleepiness among adult CrossFit (CrossFit, LLC, Santa Cruz, CA, USA) practitioners and to verify possible associations with intestinal health. Methods This cross-sectional study involved males and females aged ≥ 18 years who had been regularly practicing CrossFit for at least 3 months. This survey used an online questionnaire addressing demographic and socioeconomic data, disease history, dietary characteristics, and questions regarding CrossFit. To assess intestinal health, the ROME IV Consensus Criteria and Bristol Scale were used. The Pittsburgh International Sleep Quality Index (PSQI-BR) and Epworth Sleepiness Scale were used to assess sleep quality. Results A total of 1,090 people (73.3% females) with a mean age of 31.2 ± 7.5 years were included. Considering the diagnosis of constipation, 36.9% of the patients were classified as constipated, especially females when compared with males ( p < 0.001). On the sleepiness scale, 22.4% of the volunteers showed excessive daytime sleepiness, which was also observed more frequently among females ( p = 0.013). In the PSQI-BR, 47.4% of participants were classified as having poor sleep quality (poor sleepers). The overall PSQI-BR score was 5.81 ± 2.85, with no difference between males and females ( p = 0.360). There was a positive correlation between the PSQI-BR global score and a diagnosis of constipation and excessive daytime sleepiness. There was a negative correlation between the stool type on the Bristol scale and the PSQI-BR global score. Conclusion The present study demonstrated that sleep quality was poor among CrossFit users, especially females, which can compromise their training performance.

Relação do ato de comer com o controle da doença e a qualidade de vida no diabetes mellitus tipo 1 / Relationship between eating behavior and disease control on the quality of life in type 1 diabetes mellitus

O objetivo deste estudo foi analisar a relação do ato de comer com o controle da doença e a qualidade de vida em adultos com diabetes tipo 1 (DM1). Trata-se de estudo transversal, realizado através de um questionário on-line com a versão brasileira do Diabetes Quality of Life Measure (DQOL-Brasil) e de perguntas sobre controle alimentar. Foram incluídos 103 voluntários (85,4% mulheres). Nas relações com a comida, 68,9% disseram sentir vontade de comer quando estão ansiosos, preocupados ou tensos. O escore global foi de 2,36 ± 0,75 no DQOL-Brasil, e os domínios "satisfação" e "preocupações relacionadas ao diabetes" apresentaram valores mais altos. A variável idade teve correlação negativa com o escore global do DQOL-Brasil e com os domínios "impacto", "preocupações sociais/vocacionais" e "preocupações com diabetes". Esta pesquisa demonstrou associação entre o ato de comer com o controle do DM1, o que pode prejudicar a qualidade de vida desses indivíduos.

This study aimed to analyze the relationship between eating behavior, disease control, and quality of life in adults with type 1 diabetes mellitus (DM1). This cross-sectional study was conducted using an online questionnaire based on the Brazilian version of the Diabetes Quality of Life Measure (DQOL-Brazil), comprising questions on dietary control. A total of 103 volunteers (85.4% women) were included in this study. In relation to food, 68.9% said that they felt like eating when they were anxious, worried, or tensed. The overall score was 2.36 ± 0.75 on the DQOL-Brazil, with higher scores for the domains "satisfaction" and "diabetes-related concerns." The age variable had a negative correlation with the global DQOL-Brazil score and with the domains "impact," "social/vocational concerns," and "diabetes-related concerns." This study demonstrated an association between the act of eating and DM1 control, affecting the quality of life in these individuals.

Prevalência e severidade de sintomas em mulheres na menopausa: um estudo descritivo / Prevalence and severity of symptoms in women in the menopause: a cross-sectional study

Introdução: Muitas mulheres sofrem com sintomas associados à menopausa, que podem apresentar diferentes graus de intensidade e afetar sua qualidade de vida. Objetivo: Identificar a prevalência e severidade dos principais sintomas nas diferentes fases do climatério. Métodos: Foram selecionadas mulheres com idades entre 40 e 65 anos, que responderam a um questionário on-line com dados sociodemográficos, de saúde, alimentação e características menstruais e de menopausa. Para avaliar os sintomas da menopausa e sua intensidade, foi aplicado o questionário internacional validado Menopause Rating Scale (MRS). Resultados: Foram incluídas 283 mulheres (36,8% na pré-menopausa, 24% na perimenopausa e 39,2% na pós-menopausa). Excesso de peso foi mais prevalente na perimenopausa do que na pré-menopausa (P=0,012). Sintomas como diminuição da libido, secura vaginal, incontinência urinária, dores musculares e articulares, alterações lipídicas e ondas de calor, calorões, foram mais prevalentes em valores absolutos nas mulheres pós-menopausa. As mulheres no período de perimenopausa apresentaram maior prevalência, em valores absolutos, de estresse, irritabilidade, dor de cabeça, problemas na pele, falta de concentração/memória, distúrbios do sono e fadiga. De acordo com o MRS, não houve diferença no domínio psicossocial (P=0,265) e os sintomas somato-vegetativos e urogenitais são mais intensos nas mulheres na perimenopausa e pós-menopausa, quando comparadas com as mulheres na pré-menopausa (P<0,001). O escore global do questionário também demonstra essa intensidade menor no grupo pré-menopausa (P=0,001). Conclusões: Este estudo demonstrou uma prevalência e severidade maior de sintomas em mulheres na perimenopausa e pós-menopausa, o que pode prejudicar a qualidade de vida dessas mulheres nessa fase da vida

Introduction: Many women experience symptoms associated with menopause that present with different degrees of intensity and affect their quality of life. Objective: To identify the prevalence and severity of the main symptoms during different climacteric phases. Methods: Women aged 40­65 years answered an online questionnaire on sociodemographic data, health, diet, menstrual, and menopausal characteristics. The internationally validated Menopause Rating Scale (MRS) questionnaire was used to assess menopausal symptoms and their intensities. Results: 283 women were included (36.8% pre-menopausal, 24% peri-menopausal, and 39.2% post-menopausal). Excess weight was more prevalent in the peri-menopausal group than in the pre-menopausal group (P=0.012). Symptoms such as decreased libido, vaginal dryness, urinary incontinence, muscle and joint pain, lipid alterations, and hot flashes were more prevalent in the absolute values of post-menopausal women. Women in the peri-menopausal period had a higher prevalence, in absolute values, of stress, irritability, headache, skin problems, lack of concentration/memory, sleep disorders, and fatigue. According to the MRS, there was no difference in the psychosocial domain (P=0.265) but somato-vegetative and urogenital symptoms are more intense in peri-menopausal and post-menopausal women when compared to pre-menopausal women (P<0.001). The global score on the questionnaire also demonstrated a lower intensity in the pre-menopausal group's symptoms (P=0.001). Conclusions: This study demonstrated a higher prevalence and severity of symptoms in peri-menopausal and post-menopausal women, which may impair the quality of life of these women at this stage of life.

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.

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

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

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

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

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

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