Limited oxygen in standard cell culture alters metabolism and function of differentiated cells.

The in vitro oxygen microenvironment profoundly affects the capacity of cell cultures to model physiological and pathophysiological states. Cell culture is often considered to be hyperoxic, but pericellular oxygen levels, which are affected by oxygen diffusivity and consumption, are rarely reported. Here, we provide evidence that several cell types in culture actually experience local hypoxia, with important implications for cell metabolism and function. We focused initially on adipocytes, as adipose tissue hypoxia is frequently observed in obesity and precedes diminished adipocyte function. Under standard conditions, cultured adipocytes are highly glycolytic and exhibit a transcriptional profile indicative of physiological hypoxia. Increasing pericellular oxygen diverted glucose flux toward mitochondria, lowered HIF1α activity, and resulted in widespread transcriptional rewiring. Functionally, adipocytes increased adipokine secretion and sensitivity to insulin and lipolytic stimuli, recapitulating a healthier adipocyte model. The functional benefits of increasing pericellular oxygen were also observed in macrophages, hPSC-derived hepatocytes and cardiac organoids. Our findings demonstrate that oxygen is limiting in many terminally-differentiated cell types, and that considering pericellular oxygen improves the quality, reproducibility and translatability of culture models.

Recruitment of PI4KIIIß to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins.

ACBD3 is a protein localised to the Golgi apparatus and recruits other proteins, such as PI4KIIIß, to the Golgi. However, the mechanism through which ACBD3 itself is recruited to the Golgi is poorly understood. This study demonstrates there are two mechanisms for ACBD3 recruitment to the Golgi. First, we identified that an MWT374-376 motif in the unique region upstream of the GOLD domain in ACBD3 is essential for Golgi localization. Second, we use unbiased proteomics to demonstrate that ACBD3 interacts with SCFD1, a Sec1/Munc-18 (SM) protein, and a SNARE protein, SEC22B. CRISPR-KO of SCFD1 causes ACBD3 to become cytosolic. We also found that ACBD3 is redundantly recruited to the Golgi apparatus by two golgins: golgin-45 and giantin, which bind to ACBD3 through interaction with the MWT374-376 motif. Taken together, our results suggest that ACBD3 is recruited to the Golgi in a two-step sequential process, with the SCFD1-mediated interaction occurring upstream of the interaction with the golgins.

The exocyst complex is an essential component of the mammalian constitutive secretory pathway.

Secreted proteins fulfill a vast array of functions, including immunity, signaling, and extracellular matrix remodeling. In the trans-Golgi network, proteins destined for constitutive secretion are sorted into post-Golgi carriers which fuse with the plasma membrane. The molecular machinery involved is poorly understood. Here, we have used kinetic trafficking assays and transient CRISPR-KO to study biosynthetic sorting from the Golgi to the plasma membrane. Depletion of all canonical exocyst subunits causes cargo accumulation in post-Golgi carriers. Exocyst subunits are recruited to and co-localize with carriers. Exocyst abrogation followed by kinetic trafficking assays of soluble cargoes results in intracellular cargo accumulation. Unbiased secretomics reveals impairment of soluble protein secretion after exocyst subunit knockout. Importantly, in specialized cell types, the loss of exocyst prevents constitutive secretion of antibodies in lymphocytes and of leptin in adipocytes. These data identify exocyst as the functional tether of secretory post-Golgi carriers at the plasma membrane and an essential component of the mammalian constitutive secretory pathway.

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis.

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge. OBJECTIVE: The goal of the present study is to evaluate the neurological findings of TSC, such as cerebral lesions and epilepsy, and to raise awareness of non-neurological findings that could contribute to an earlier diagnosis and treatment. METHODS: This was a natural history study of patients with a definitive diagnosis of TSC who were referred to a specialized outpatient clinic and followed-up for 2 years with clinical and radiological exams. RESULTS: A total of 130 TSC patients (59 males [45.4%], mean age 20.4 years old [1 to 56 years old]); 107 patients (82.3%) were diagnosed with epilepsy. Seizures predominantly began at < 1 year old (72.8%); focal seizures predominated (86.9%); epileptic spasms occurred in 34.5% of patients, and refractory epilepsy was present in 55.1%. Neuropsychiatric disorders, cortical tubers and cerebellar tubers were significantly more frequent in the epilepsy group. Moreover, rhabdomyomas were significantly more frequent in the epilepsy group (p = 0.044), while lymphangioleiomyomatosis was significantly less frequent in the epilepsy group (p = 0.009). Other non-neurological findings did not differ significantly between the groups with and without epilepsy. CONCLUSIONS: The present study of TSC patients demonstrated the predominantly neurological involvement and significantly higher proportion of TSC-associated neuropsychiatric disorders in the epilepsy group. Higher proportions of cortical and cerebellar tubers may be a risk factor for epilepsy and neurodevelopmental disorders.

ANTECEDENTES: O Complexo da esclerose tuberosa (CET) é uma doença multissistêmica. As apresentações clínicas em diferentes órgãos são diversas, necessitando um maior conhecimento da doença. OBJETIVO: O objetivo do presente estudo foi avaliar na CET o envolvimento neurológico, como lesões cerebrais e epilepsia, e chamar a atenção para achados não neurológicos que contribuiriam para o diagnóstico e tratamento precoces. MéTODOS: Estudo de história natural do CET em pacientes com critérios diagnósticos definidos encaminhados aleatoriamente para serviço especializado e que foram acompanhados, durante 2 anos, com exames clínicos e radiológicos. RESULTADOS: O total de 130 pacientes (59 do sexo masculino [45.4%]), idade média de 20,4 anos [1 a 56 anos]) foram avaliados; 107 pacientes (82.3%) foram diagnosticados com epilepsia. As crises epilépticas se iniciaram especialmente em pacientes < 1 ano de idade (72,8%); predomínio de crise focal (86,9%); ocorrência de espasmos infantis em 34,5% deles e de epilepsia refratária em 55,1%. A frequência de distúrbios neuropsiquiátricos, túberes corticais e túberes cerebelares foi significativamente mais frequente no grupo com epilepsia. Além disso, rabdomioma foi significativamente mais frequente no grupo com epilepsia (p = 0,044), enquanto a linfoangioleiomiomatose foi significativamente menos frequente (p = 0,009). Outros comprometimentos não neurológicos, como os oftalmológicos e os nefrológicos, não diferiram significativamente nos grupos com e sem epilepsia. CONCLUSõES: O presente estudo com pacientes com CET com e sem epilepsia pode demonstrar uma maior proporção significativa de transtornos neuropsiquiátricos associados ao CET no grupo com epilepsia. A maior proporção de túberes corticais e cerebelares parecem ser um fator de risco para epilepsia e para o comprometimento do neurodesenvolvimento.

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis / Perfil clínico de pacientes com complexo de esclerose tuberosa com e sem epilepsia: uma necessidade de conscientização para o diagnóstico precoce

Abstract Background Tuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge. Objective The goal of the present study is to evaluate the neurological findings of TSC, such as cerebral lesions and epilepsy, and to raise awareness of non-neurological findings that could contribute to an earlier diagnosis and treatment. Methods This was a natural history study of patients with a definitive diagnosis of TSC who were referred to a specialized outpatient clinic and followed-up for 2 years with clinical and radiological exams. Results A total of 130 TSC patients (59 males [45.4%], mean age 20.4 years old [1 to 56 years old]); 107 patients (82.3%) were diagnosed with epilepsy. Seizures predominantly began at < 1 year old (72.8%); focal seizures predominated (86.9%); epileptic spasms occurred in 34.5% of patients, and refractory epilepsy was present in 55.1%. Neuropsychiatric disorders, cortical tubers and cerebellar tubers were significantly more frequent in the epilepsy group. Moreover, rhabdomyomas were significantly more frequent in the epilepsy group (p = 0.044), while lymphangioleiomyomatosis was significantly less frequent in the epilepsy group (p = 0.009). Other non-neurological findings did not differ significantly between the groups with and without epilepsy. Conclusions The present study of TSC patients demonstrated the predominantly neurological involvement and significantly higher proportion of TSC-associated neuropsychiatric disorders in the epilepsy group. Higher proportions of cortical and cerebellar tubers may be a risk factor for epilepsy and neurodevelopmental disorders.

Resumo Antecedentes O Complexo da esclerose tuberosa (CET) é uma doença multissistêmica. As apresentações clínicas em diferentes órgãos são diversas, necessitando um maior conhecimento da doença. Objetivo O objetivo do presente estudo foi avaliar na CET o envolvimento neurológico, como lesões cerebrais e epilepsia, e chamar a atenção para achados não neurológicos que contribuiriam para o diagnóstico e tratamento precoces. Métodos Estudo de história natural do CET em pacientes com critérios diagnósticos definidos encaminhados aleatoriamente para serviço especializado e que foram acompanhados, durante 2 anos, com exames clínicos e radiológicos. Resultados O total de 130 pacientes (59 do sexo masculino [45.4%]), idade média de 20,4 anos [1 a 56 anos]) foram avaliados; 107 pacientes (82.3%) foram diagnosticados com epilepsia. As crises epilépticas se iniciaram especialmente em pacientes < 1 ano de idade (72,8%); predomínio de crise focal (86,9%); ocorrência de espasmos infantis em 34,5% deles e de epilepsia refratária em 55,1%. A frequência de distúrbios neuropsiquiátricos, túberes corticais e túberes cerebelares foi significativamente mais frequente no grupo com epilepsia. Além disso, rabdomioma foi significativamente mais frequente no grupo com epilepsia (p = 0,044), enquanto a linfoangioleiomiomatose foi significativamente menos frequente (p = 0,009). Outros comprometimentos não neurológicos, como os oftalmológicos e os nefrológicos, não diferiram significativamente nos grupos com e sem epilepsia. Conclusões O presente estudo com pacientes com CET com e sem epilepsia pode demonstrar uma maior proporção significativa de transtornos neuropsiquiátricos associados ao CET no grupo com epilepsia. A maior proporção de túberes corticais e cerebelares parecem ser um fator de risco para epilepsia e para o comprometimento do neurodesenvolvimento.

Sleep and Awakening Quality during COVID-19 Confinement: Complexity and Relevance for Health and Behavior.

OBJECTIVE: The aim of this study was to evaluate sleep and awakening quality (SQ and AQ) during COVID-19 in a large and diversified population in order to identify significant associations and risks in terms of demography, health and health-related behaviors, sleep variables, mental health, and attitudes. METHODS/RESULTS: Online surveys were used for data collection, received from 5479 individuals from the general population, sleep disorder patients, and COVID-involved (medical doctors (MDs) and nurses) and COVID-affected professionals (teachers, psychologists, and dentists). SQ and AQ were worse in adults, females, and high-education subjects. Feeling worse, having economic problems, depression, anxiety, irritability, and a high Calamity Experience Check List (CECL) score during COVID were significantly associated with poor SQ and AQ. Shorter sleep duration, increased latency, poor nutrition, low physical activity, increased mobile and social network use, more negative and less positive attitudes and behaviors were associated with poor AQ. CONCLUSIONS: The SQ logistic regression showed gender, morbidities, CECL, and awakenings as relevant, whereas, for AQ, relevant variables further included age and physical activity. Aiming to have a high stress compliance, each individual should sleep well, have important control of their mood, practice positive behaviors while dismissing negative behaviors and attitudes, practice exercise, have adequate nutrition, and beware of technologies and dependences.

Parkin truncating variants result in a loss-of-function phenotype.

Parkinson disease (PD) is the second most common neurodegenerative disorder. Most cases of PD are sporadic, while 5-10% have a known genetic basis. Variants in the PARK2 gene are the most frequent cause of autosomal recessive juvenile-onset PD. PARK2 encodes parkin, a multi-domain protein that functions as an ubiquitin E3 ligase. Numerous variants spanning all parkin domains have been identified, although the pathogenic relevance for several of those remains unclear. In this study, we aimed to functionally characterize two truncating parkin variants: N52Mfs*29, which is highly prevalent in the Portuguese and Spanish populations, and L358Rfs*77, recently identified in the Portuguese population. Our results indicate that both variants are prematurely degraded by the proteasome, even though proteins levels are still moderate. We also showed that they are aggregation-prone and lead to mislocalized parkin. Interestingly, the L358Rfs*77 variant is mislocalized to the nucleus, which was never reported for parkin variants. While N52Mfs*29 impaired self-ubiquitination activity, the L358Rfs*77 variant seemed to retain it. Both variants, however, fail to ubiquitinate p62 substrate and did not relocalize to depolarized mitochondria. Therefore, we conclude that parkin truncating variants cause loss of parkin function, thus showing their causative role in PD pathogenesis.

[Endocrinology in Portugal - Census 2016. Board of the Portuguese College of Endocrinology and Nutrition of the Portuguese Medical Association]. / A Endocrinologia em Portugal - Censo 2016. Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos.

INTRODUCTION: On September 2016, the Board of the College of Endocrinology and Nutrition of the Portuguese Medical Association carried out a national survey, about all Endocrinology, Diabetes and Metabolism Departments of the public hospitals included in the Portuguese National Health Service and a simplified version of this survey was sent to all endocrinologists working in Portugal and registered with the Portuguese Medical Association. MATERIAL AND METHODS: Data related to organizational and human resources were collected, reporting the situation by the end of year 2015. The census registered 107 individuals and 27 Departments. RESULTS: The ratio of endocrinologists-population was 1.4, much lower than in the other European countries (varies between 2 to 4), resulting in alarming shortages of services in some areas of Portugal and in worse quality indicators. DISCUSSION: These data suggest that actions should be taken to increase the number of endocrinologists and departments in the country. CONCLUSION: In recent years, the number of residents has significantly increased, which will make it possible to correct this situation.

Introdução: A Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos realizou um inquérito nacional em setembro de 2016, a todos os serviços de Endocrinologia, Diabetes e Metabolismo dos hospitais do Serviço Nacional de Saúde e uma versão simplificada do mesmo foi enviada a todos os endocrinologistas a trabalhar em Portugal e inscritos no colégio. Material e Métodos: O censo inclui dados organizacionais e de recursos humanos relativos ao fim do ano de 2015. Registou 107 respostas individuais e 27 serviços. Resultados: O ratio de endocrinologistas por 100 000 habitantes era de 1,4, muito inferior a outros países europeus (varia de 2 a 4), que resulta numa carência grave de serviços em algumas zonas do País e em piores indicadores de qualidade. Discussão: Estes dados indicam que devem ser implementadas medidas para aumentar o número de endocrinologistas e serviços em Portugal. Conclusão: Nos últimos anos, o número de internos tem vindo a aumentar, o que vai permitir melhorar esta situação.

Thoracic Duct Decompression for Protein-Losing Enteropathy in Failing Fontan Circulation.

An infrequent but devastating late complication of Fontan circulation is protein-losing enteropathy (PLE), which results from unbalanced lymphatic homeostasis. Surgical decompression of the thoracic duct by redirecting its drainage to the pulmonary venous atrium has been introduced recently as a possible treatment. This report describes a single-institution experience with this innovative procedure in 2 patients with failing Fontan circulation with PLE refractory to optimized medical therapy.

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

Mutations in DJ-1 (encoded by PARK7) are a very rare cause of early-onset recessive Parkinson's disease. We describe a patient with early-onset parkinsonism, starting at the age of 22, with poor response to levodopa and additional features in progression (dystonia, pyramidal signs and dementia), who died when he was 49 years old. The neuropathological study showed severe substantia nigra and locus coeruleus neuronal loss, with diffuse Lewy body pathology (Lewy bodies, aberrant neurites, grain-like structures, spheroids and scattered glial pathology). Genetic analysis revealed a novel c.515T > A; p.L172Q mutation in the PARK7 gene. To evaluate the pathogenicity of this new mutation we explored DJ-1 expression levels in vitro showing a massive reduction in DJ-1 protein levels due to a highly unstable and rapidly degraded L172Q mutant. DJ-1 immunohistochemistry of brain tissue revealed no staining in our case. This is the first neuropathological report of a brain from DJ-1-linked parkinsonism that, although based on a single case study, suggests that DJ-1 mutations are causative of α-synucleinopathy. These results can help in the understanding of Parkinson's disease pathophysiology, promote research studies to increase the knowledge on the pathways involved in the neurodegeneration process, and pave the way for new therapeutic interventions.

Validation of a food frequency questionnaire designed for adolescents in Salvador, Bahia, Brazil / Validação de um questionário de frequência de consumo alimentar para população de adolescentes em Salvador, Bahia

Objective: This study assessed the validity of a Food Frequency Questionnaire used to assess food intake in adolescents in Salvador, Bahia, Brazil. Methods: Seventy adolescents enrolled in public schools aged 11 to 17 years participated in this study. The dietary intake of the adolescents was assessed using the Food Frequency Questionnaire and the mean value of three-day food record, used as the reference method. The mean (and standard deviation) energy and nutrient intakes estimated from the Food Frequency Questionnaire and food records were calculated. The paired Student's t test was used to determine differences between the data. Results: Pearson's correlation coefficient and Kappa statistics were used to measure the strength of the association between the two instruments. There was variation in the crude unadjusted (r=0.61-0.73) and deattenuated (r=0.33-0.99) Pearson correlation coefficients. After adjusting for energy, the crude and deattenuated coefficients ranged from r=0.53-0.81 and r=0.27-0.99, respectively. The intake of energy and most nutrients were found to be adequate, except for fiber (r=0.27) and calcium (r=0.33), which showed a weak correlation. Kappa statistics showed good correlation between all values varying from r=0.47 to 0.73. Conclusion: It is considered that an average r value greater than 0.40 indicates a good correlation, the results obtained indicate the good ability of the Food Frequency Questionnaire to assess individuals according to their usual intake of most nutrients.

Objetivo: Verificar a validade do Questionário de Frequência Alimentar utilizado para avaliar o consumo de alimentos dos adolescentes em Salvador, Bahia. Métodos : Participaram do estudo 70 adolescentes, com idade entre 11 e 17 anos, matriculados nas escolas da rede pública. Seu consumo alimentar foi avaliado pelo Questionário de Frequência Alimentar e pela média de três registros alimentares como método de referência. Foram estimadas as médias (desvio-padrão) da energia e dos nutrientes extraídos do Questionário de Frequência Alimentar e dos registros alimentares. Para verificar as diferenças foi aplicado o teste t Student pareado. Para medir a concordância entre os dois instrumentos foram calculados os coeficientes de correlação de Pearson e estatística de Kappa. Resultados: A análise dos coeficientes de correlação de Pearson não ajustados brutos, foi possível observar uma variação entre (r=0,61-0,73), já nos deatenuados entre (r=0,33-0,99). Após ajustados por energia os valores brutos variaram entre (r=0,53-0,81) e os deatenuados (r=0,27-0,99), observou-se valores adequados para energia e a maioria dos nutrientes, com exceção da fibra (r=0,27) e do cálcio (r=0,33), que apresentaram fraca correlação. No método de Kappa, todos os valores obtidos na análise apresentaram boa correlação, variando entre (r=0,470,73). Conclusão: Considera-se que a média dos coeficientes para boa correlação deve estar acima de 0,40, esses resultados indicam a capacidade do Questionário de Frequência Alimentar em classificar os indivíduos segundo seu consumo habitual para a maioria dos nutrientes.

Percutaneous occlusion of vascular malformations in pediatric and adult patients: 20-year experience of a single center.

OBJECTIVE: A case series on different vascular malformations (VM) treated with percutaneous occlusion in children and adults is presented. BACKGROUND: Percutaneous occlusion is usually the preferred treatment method for VM. Previous series have mostly focused on single types of devices and/or VM. METHODS: Retrospective analysis of all patients who underwent percutaneous occlusion of VM in a single center, from 1995 to 2014, excluding patent ductus arteriosus. Clinical and angiographic data, procedural details, implanted devices, and complications were assessed. Procedural success was defined as effective device deployment with none or minimal residual flow. Predictors of procedural failure and complications were determined by multivariate analysis. RESULTS: A total of 123 VM were intervened in 47 patients with median age of 12 years (25 days-76 years). The VM included 55 pulmonary arteriovenous fistulae, 39 aortopulmonary collaterals, 10 systemic venovenous collaterals, 8 peripheral arteriovenous fistulae, 5 Blalock-Taussig shunts, 4 coronary fistulae, and 2 Fontan fenestrations. The 143 devices used included 80 vascular plugs, 38 coils, 22 duct occluders, and 3 foramen ovale or atrial septal defect occluders. Median vessel size was 4.5 (2.0-16.0) mm and device/vessel size ratio was 1.4 (1.1-2.0). Successful occlusion was achieved in 118 (95.9%) VM, including three reinterventions. Four (3.3%) clinically relevant complications occurred, without permanent sequelae. Lower body weight was independently associated with procedural failure and complications. CONCLUSION: To our knowledge, this is the largest series on different VM occluded percutaneously in children and adults, excluding patent ductus arteriosus. Percutaneous occlusion was effective and safe, using different devices.

Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

Alexander disease (AxD) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene. We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene. Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI) findings, which became typical during follow-up. The child was born after an uneventful pregnancy, presented initially only as a failure to thrive. The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly). During follow-up, her clinical picture became typical of AxD with macrocephaly and neurodevelopmental delay. Sequential MRI examinations showed frontal white matter involvement, together with exuberant forniceal lesions and areas of contrast enhancement.

O lúdico na promoção da saúde do trabalhador e em defesa da vida / The ludic in the promotion of occupational health and in defense of life

Objetivo: relatar a experiência de utilização do lúdico na promoção da saúde em defesa da vida. Metodologia: tipo de estudo descritivo, com abordagem qualitativa. Trata-se de um relato de experiência realizado por enfermeiras e assistentes sociais, que desempenham atividades educativas e preventivas nas indústrias cearenses por meio do teatro de bonecos do Serviço Social da Indústria do Ceará (SESI). A equipe de educação em saúde sentiu necessidade de utilizar o teatro de bonecos para atender às demandas solicitadas pelas empresas nas ações voltadas aos trabalhadores da indústria. Resultados: revelaram que o teatro de bonecos é um importante instrumento educativo e lúdico, com caráter participativo. Conclusão: a intervenção educativa por meio do teatro de bonecos indica que se consegue realizar um trabalho educativo preventivo, motivado pela ludicidade, envolvendo os trabalhadores como parceiros, utilizando uma linguagem clara e acessível sobre promoção, proteção e recuperação da saúde e prevenção de danos à integridade da saúde do trabalhador.(AU)

Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world.

Alpha-1-antitrypsin (AAT) deficiency is a common genetic disease which affects both lung and liver. Early diagnosis can help asymptomatic patients to adjust their lifestyle choices in order to reduce the risk of Chronic Obstructive Pulmonary Disease (COPD). The determination of this genetic deficiency prevalence in Madeira Island (Portugal) population is important to clarify susceptibility and define the relevance of performing genetic tests for AAT on individuals at risk for COPD. Two hundred samples of unrelated individuals from Madeira Island were genotyped for the two most common AAT deficiency alleles, PI*S and PI*Z, using Polymerase Chain Reaction-Mediated Site-Directed Mutagenesis. Our results show one of the highest frequencies for both mutations when compared to any already studied population in the world. In fact, PI*S mutation has the highest prevalence (18%), and PI*Z mutation (2.5%) was the third highest worldwide. The frequency of AAT deficiency genotypes in Madeira (PI*ZZ, PI*SS, and PI*SZ) is estimated to be the highest in the world: 41 per 1000. This high prevalence of AAT deficiency on Madeira Island reveals an increased genetic susceptibility to COPD and suggests a routine genetic testing for individuals at risk.

Inadequação no consumo alimentar e fatores interferentes na ingestão energética de idosos matriculados no Programa Municipal da Terceira Idade de Viçosa (MG) / Food consumption inadequacy and interfering factors in energy intake of the elderly enrolled in the city of Viçosas (MG) Third Age Program

O presente estudo teve como objetivo avaliar o consumo alimentar de idosos matriculados no Programa Municipal da Terceira Idade (PMTI) de Viçosa (MG) e os possíveis fatores que interferem negativamente sobre o mesmo. Para avaliar o consumo alimentar, utilizou-se a média obtida a partir da soma do consumo encontrado entre o recordatório de 24 horas e o questionário de frequência alimentar semi-quantitativo (QFCA-s). Foi aplicado um questionário para avaliar as variáveis socioeconômicas e de saúde. A ingestão de energia e proteína ficou abaixo da necessidade estimada para 94,2por cento e 79,3por cento dos idosos. Verificou-se elevada inadequação no consumo de vitaminas (vitamina C, A, B1, B2 e B6). O consumo mediano de cálcio foi cerca de 1/3 do valor recomendado. A prevalência de inadequação de ferro foi baixa entre os idosos. Os fatores, baixa renda, morar sozinho ou com três gerações, edentulismo, uso de medicamentos e sedentarismo interferiram negativamente no consumo de energia (p menor que 0,05). A ingestão de proteínas foi afetada negativamente pelo edentulismo e sedentarismo. Os resultados mostram uma ingestão alimentar deficiente em vários nutrientes, sugerindo a necessidade de implementação de ações de assistência social e educacional para melhorar o quadro nutricional deste grupo.

Sobrepeso e obesidade medidos pelo índice de massa corporal (IMC), circunferência da cintura (CC) e relação cintura/quadril (RCQ), de idosos de um município da Zona da Mata Mineira / Overweight and obesity measured by the body mass index (BMI), waist circumference (CW) and waist-to-hip ratio (W/H), of seniors of a municipal district in Zona da Mata, State of Minas Gerais, Brazil

Este trabalho teve como objetivo caracterizar o estado nutricional dos idosos cadastrados no Programa Municipal da Terceira Idade (PMTI) situado em Viçosa, Minas Gerais. A população estudada constituiu-se de 183 idosos com idade entre 60 e 90 anos, assistidos pelo PMTI de Viçosa. Os idosos foram avaliados pelo método antropométrico, utilizando-se peso, altura, circunferências da cintura e do quadril para calcular a relação cintura/quadril (RCQ) e o índice de massa corporal (IMC). O perfil nutricional do grupo apresentou uma bipolarização, com alta prevalência de sobrepeso (40,8 por cento) e baixo-peso (15,1 por cento). A freqüência de CC (circunferência da cintura) aumentada e de RCQ inadequada foi alta em ambos os sexos (61,4 por cento), sendo significativamente maior nas mulheres. Os resultados encontrados apresentam uma situação preocupante dessa população, sendo necessário adotar medidas de controle e prevenção do sobrepeso, destacando-se o baixo-peso como importante fator de risco de mortalidade entre idosos.

Consumo alimentar e estado nutricional de crianças atendidas em serviços públicos de saúde do município de Viçosa, Minas Gerais / Food consumption and nutritional profile of children seen in public health services of Viçosa, Minas Gerais, Brazil

OBJETIVO: Avaliar o consumo alimentar e o estado nutricional de 174 crianças, entre 12 e 35 meses de idade, atendidas na rede pública de saúde de Viçosa, Minas Gerais, Brasil. MÉTODOS: O consumo alimentar foi investigado por meio de dois inquéritos dietéticos (recordatório 24 horas e questionário de freqüência de consumo alimentar). O estado nutricional foi avaliado pelos índices antropométricos peso/idade, peso/estatura e estatura/idade, e associado ao consumo alimentar. Utilizou-se o Teste "t" Student para comparar médias, Teste chi2 para verificar associação entre variáveis e Odds Ratio para avaliar fatores de risco envolvidos na ocorrência de déficits nutricionais (p<0,05). RESULTADOS: A quantidade média de energia consumida excedeu a recomendação para ambos os sexos (p<0,0001). A ingestão habitual de energia e nutrientes foi estatisticamente significante e maior entre os meninos (p<0,0001), exceto para vitamina C. Prevalências de inadequação foram observadas para as vitaminas C e A (96,6 por cento e 36,8 por cento) e os minerais ferro e zinco (13,2 por cento e 99,4 por cento). Com relação ao estado nutricional, as prevalências de desnutrição encontradas foram 13,2 por cento para o índice peso/idade, 13,8 por cento para peso/estatura e 4,0 por cento para estatura/idade. Encontrou-se associação positiva entre déficit nutricional e consumo alimentar inadequado. CONCLUSÃO: Estes resultados demonstram que o consumo alimentar inadequado tem contribuído para os déficits nutricionais do grupo pré-escolar. Recomenda-se a realização continuada de estudos de consumo alimentar nessa população, para conhecer sua prática alimentar.

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

A distrofia muscular de Duchenne (DMD) é uma distrofia muscular com comprometimento cognitivo presente em 20-30% dos casos. No presente estudo, com a finalidade de estudar a relação entre a imunoexpressão da a-distroglicana (a-DG) em musculatura esquelética e a performance cognitiva em pacientes com DMD, foram avaliadas 19 crianças. Doze pacientes apresentaram o quociente de inteligência (QI) abaixo da média. Entre os 19 pacientes, dois foram avaliados pelo teste de Stanford-Binet e 17 pelo Wechsler Intelligence Scale para crianças-III (WISC-III). Nove apresentaram QI verbal abaixo da média, e apenas três QI verbal na média. As biopsias musculares com os anticorpos para a-DG mostraram que 17 pacientes apresentaram baixa expressão, abaixo de 25% do total de fibras. Dois pacientes apresentaram a imunoexpressão da a-DG acima de 40% e QI dentro da média. Não foi demonstrada relação estatisticamente significante entre o QI total, QI verbal e QI de execução e a imunoexpressão da a-DG .