A doença neuromuscular: processos de adaptação dos doentes neuromusculares: 3 histórias de vida

O presente trabalho de investigação consiste numa abordagem sobre as doenças neuromusculares e tem como objetivo a compreensão dos processos de adaptação das pessoas portadoras de doença neuromuscular e a intervenção do Assistente Social neste contexto. Optou-se por uma metodologia de estudo qualitativo e de cariz indutivo, tendo em conta o problema e os objetivos da presente investigação. Foi utilizada pesquisa documental e para além desta técnica fez-se uso de entrevistas abertas em que o método a utilizar foi as histórias de vida. Realizou-se a três pessoas com doença neuromuscular em que o pretendido é estudar o impacto das doenças neuromusculares na vida de três indivíduos remetendo para o impacto individual, relacional, socioeconómico e político. Efetuou-se mais uma entrevista a uma Assistente Social em que a intervenção profissional remete para este contexto no sentido de procurar mais informação empírica para a investigação. A amostra relativamente aos indivíduos com doença neuromuscular foi selecionada tendo como base: a doença ter sido diagnosticada na infância, ter idade superior a 25 anos e estar associado à Associação Portuguesa de Neuromusculares. Posteriormente procedeu-se a uma análise de conteúdo das mesmas. Com os resultados obtidos conseguiu-se apurar que existem falhas na proteção legislativa quanto às pessoas com doença neuromuscular e à sua família. Existe pouca mobilização por parte do Estado para inserir de forma mais “natural” este grupo de população na sociedade moderna em que vivemos. Existem políticas sociais aplicadas à deficiência contudo comprova-se que são desajustadas e insuficientes. Para além disto, foi constatado que o Assistente Social tem um papel marcante neste tipo de intervenção social. É trabalhando com o indivíduo e, em simultaneamente, em rede que consegue dar algum tipo de resposta face aos desafios diários.The present research work is an approach on neuromuscular disorders and aims to understand the processes of adaptation of people with this disability and also the intervention of the Social Worker in this context. A qualitative and inductive study methodology was chosen, taking into account the problem and the goals of the present investigation. Documentary research was used and in addition to this technique, open interviews were conducted using the life stories method. Three people with this disability were studied and the purpose was to learn the impact of neuromuscular disorders in the lives of three individuals, referring to individual, relational, socioeconomic and political impact. Another interview was performed, with a Social Worker, where professional intervention was required in order to seek more empirical information for this matter. The sample for individuals with neuromuscular disorder was selected based on the fact that this disability was diagnosed in childhood, the person was over 25 years old and also a member of Associação Portuguesa de Neuromusculares (Portuguese Neuromuscular Association). Subsequently, a content analysis was carried out. With the achieved results it was possible to verify that there are flaws in the lawmaking protection for people with neuromuscular disorders and for their families. There is little government mobilization to insert this group of the population into the modern society in which we live. There are social policies applied to disability, but they are found to be inadequate and insufficient. In addition, it was found that the Social Worker plays an important role in this type of social intervention. It is working with the individual and, simultaneously in a network that he/she manages to give some kind of response to the daily challenges

NCRF-ESNL: comparação entre Portugal e Espanha

Este artigo apresenta-se particularmente relevante e atual, dado o nível do crescimento e diversificação das Entidades do Setor Não Lucrativo (ESNL). Este trabalho tem como objetivo a comparação do normativo contabilístico aplicável às ESNL entre Portugal e Espanha. Cremos que as normas recentemente aprovadas significam um passo importante na homogeneização e adaptação das normas de contabilidade para as ESNL e julgamos que contribuirão para a melhoria da qualidade e da transparência da informação financeira destas entidades. Ao contrário do concluído em estudo anterior sobre as Estruturas Concetuais vigentes para este tipo de entidades, nos dois países, consideramos que ainda não existe harmonização ao nível do normativo contabilístico entre Portugal e Espanha

EFEITO DA GLUTAMINA NOS SINTOMAS GASTROINTESTINAIS E NO CONSUMO ALIMENTAR DE PACIENTES HEMATOLÓGICOS EM QUIMIOTERAPIA / GLUTAMINE EFFECT IN GASTROINTESTINAL SYMPTOMS AND DIETARY INTAKE OF CHEMOTHERAPY HEMATOLOGICAL PATIENTS

Introdução: A glutamina é um aminoácido condicionalmente essencial. Estima-se que este nutriente possa promover regulação da apoptose e da reposta imunológica, reduzir a toxicidade medicamentosa ao trato gastrointestinal e modificar a situação clínica de pacientes em quimioterapia. Objetivo: Verificar o efeito de glutamina oral com doses de 0,3g/Kg/dia e 0,65g/Kg/dia no controle de sintomas gastrintestinais e no consumo alimentar de pacientes hematológicos em quimioterapia. Métodos: Ensaio clínico, randomizado, cego, realizado no Hospital das Clínicas de Goiânia de setembro/2013 a setembro/2014. Foram acompanhados 17 pacientes, divididos em dois grupos, um com oito e o outro com nove indivíduos que receberam 0,3g/kg/dia e 0,65g/Kg/dia de glutamina oral por 30 dias, respectivamente. Avaliou-se o estado nutricional e os sintomas gastrointestinais por meio da Avaliação Subjetiva Global Produzida Pelo Próprio Paciente e o consumo alimentar pelo Recordatório Alimentar de 24h antes e após a intervenção. Resultados: O estado nutricional predominante em ambos os grupos foi o de “bem nutrido” antes e após a intervenção. Os sintomas gastrointestinais e o consumo alimentar não apresentaram alteração significativa após a intervenção em ambos os grupos, sendo evidenciada manutenção dos parâmetros investigados. Conclusão: A suplementação de 0,3g/Kg/dia e 0,65g/kg/dia de glutamina oral não modificou significativamente a ocorrência de sintomas gastrointestinais e não alterou o consumo alimentar, porém houve menor frequência dos sintomas gastrointestinais, melhor percentual de adequação de consumo calórico e proteico e aumento do número indivíduos bem nutridos em ambos os grupos após a suplementação sendo considerados positivos no tratamento coadjuvante à neoplasia.Palavras-chave: Glutamina. Hematologia. Quimioterapia.AbstractIntroduction: Glutamine is a conditionally essential amino acid. It is estimated that this nutrient may promote apoptosis and immune response regulation, besides reducing gastrointestinal tract drug toxicity and modifying the clinical situation of patients undergoing chemotherapy. Objective: To investigate the effect of oral glutamine, in doses of 0.3g/kg/day and 0.65g/kg/day, in the control of gastrointestinal symptoms and in the food intake of hematological patients undergoing chemotherapy. Methods: A Randomized, blinded and clinical trial was conducted at Hospital das Clínicas de Goiania from September/2013 to September/2014. Seventeen patients were monitored. Two groups were formed, in which one had eight subjects and the other had nine subjects receiving 0.3g/kg/day and 0.65g/kg/day oral glutamine, respectively, for 30 days. Nutritional status and gastrointestinal symptoms were evaluated by Subjective Global Assessment, produced by the own patient, and by dietary intake, through the 24-hour food recall before and after intervention. Results: The predominant nutritional status was of “well nourished” before and after intervention. Gastrointestinal symptoms and food intake showed no significant change (p<0.05) after intervention in both groups, evidencing maintenance of the investigated parameters. Conclusion: Supplementation of 0.3g/kg/day and 0.65g/kg/day of oral glutamine did not significantly affect gastrointestinal symptoms occurrence and did not alter food intake. However, there were lower frequency of gastrointestinal symptoms, better percentage of calorie and protein consumption and increase of well-nourished individuals in both groups after supplementation. The results are considered positive in the supporting treatment to neoplasia.Keywords: Glutamine. Hematology. Chemotherapy

Stanniocalcin 2 contributes to aggressiveness and is a prognostic marker for oral squamous cell carcinoma

Stanniocalcin 2 (STC2), a glycoprotein that regulates calcium and phosphate homeostasis during mineral metabolism, appears to display multiple roles in tumorigenesis and cancer progression. This study aimed to access the prognostic value of STC2 in oral squamous cell carcinoma (OSCC) and its implications in oral tumorigenesis. STC2 expression was examined in 2 independent cohorts of OSCC tissues by immunohistochemistry. A loss-of-function strategy using shRNA targeting STC2 was employed to investigate STC2 in vitro effects on proliferation, apoptosis, migration, invasion, epithelial-mesenchymal transition (EMT) and possible activation of signaling pathways. Moreover, STC2 effects were assessed in vivo in a xenograft mouse cancer model. High expression of STC2 was significantly associated with poor disease-specific survival (HR: 2.67, 95% CI: 1.37-5.21, p = 0.001) and high rate of recurrence with a hazard ratio of 2.80 (95% CI: 1.07-5.71, p = 0.03). In vitro downregulation of STC2 expression in OSCC cells attenuated proliferation, migration and invasiveness while increased apoptotic rates. In addition, the STC2 downregulation controlled EMT phenotype of OSCC cells, with regulation on E-cadherin, vimentin, Snaill, Twist and Zeb2. The reactivation of STC2 was observed in the STC2 knockdown cells in the in vivo xenograft model, and no influence on tumor growth was observed. Modulation of STC2 expression levels did not alter consistently the phosphorylation status of CREB, ERK, JNK, p38, p70 S6K, STAT3, STAT5A/B and AKT. Our findings suggest that STC2 overexpression is an independent marker of OSCC outcome and may contribute to tumor progression via regulation of proliferation, survival and invasiveness of OSCC cells.Peer reviewe

Fascin promotes migration and invasion and is a prognostic marker for oral squamous cell carcinoma

Oral squamous cell carcinoma (OSCC) prognosis is related to clinical stage and histological grade. However, this stratification needs to be refined. We conducted a comparative proteome study in microdissected samples from normal oral mucosa and OSCC to identify biomarkers for malignancy. Fascin and plectin were identified as differently expressed and both are implicated in several malignancies, but the clinical impacts of aberrant fascin and plectin expression in OSCCs remains largely unknown. Immunohistochemistry and real-time quantitative PCR were carried out in ex vivo OSCC samples and cell lines. A loss-of-function strategy using shRNA targeting fascin was employed to investigate in vitro and in vivo the fascin role on oral tumorigenesis. Transfections of microRNA mimics were performed to determine whether the fascin overexpression is regulated by miR-138 and miR-145. We found that fascin and plectin are frequently upregulated in OSCC samples and cell lines, but only fascin overexpression is an independent unfavorable prognostic indicator of disease-specific survival. In combination with advanced T stage, high fascin level is also an independent factor of disease-free survival. Knockdown of fascin in OSCC cells promoted cell adhesion and inhibited migration, invasion and EMT, and forced expression of miR-138 in OSCC cells significantly decreased the expression of fascin. In addition, fascin downregulation leads to reduced filopodia formation and decrease on paxillin expression. The subcutaneous xenograft model showed that tumors formed in the presence of low levels of fascin were significantly smaller compared to those formed with high fascin levels. Collectively, our findings suggest that fascin expression correlates with disease progression and may serve as a prognostic marker and therapeutic target for patients with OSCC.Peer reviewe

Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado-Joseph disease

Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is a fatal polyglutamine disease with no disease-modifying treatment. The selective serotonin reuptake inhibitor citalopram was shown in nematode and mouse models to be a compelling repurposing candidate for Machado-Joseph disease therapeutics. We sought to confirm the efficacy of citalopram to decrease ATXN3 aggregation in an unrelated mouse model of Machado-Joseph disease. Four-week-old YACMJD84.2 mice and non-transgenic littermates were given citalopram 8 mg/kg in drinking water or water for 10 weeks. At the end of treatment, brains were collected for biochemical and pathological analyses. Brains of citalopram-treated YACMJD84.2 mice showed an approximate 50% decrease in the percentage of cells containing ATXN3-positive inclusions in the substantia nigra and three examined brainstem nuclei compared to controls. No differences in ATXN3 inclusion load were observed in deep cerebellar nuclei of mice. Citalopram effect on ATXN3 aggregate burden was corroborated by immunoblotting analysis. While lysates from the brainstem and cervical spinal cord of citalopram-treated mice showed a decrease in all soluble forms of ATXN3 and a trend toward reduction of insoluble ATXN3, no differences in ATXN3 levels were found between cerebella of citalopram-treated and vehicle-treated mice. Citalopram treatment altered levels of select components of the cellular protein homeostatic machinery that may be expected to enhance the capacity to refold and/or degrade mutant ATXN3. The results here obtained in a second independent mouse model of Machado-Joseph disease further support citalopram as a potential drug to be repurposed for this fatal disorder.This work was funded by Becky Babcox Research Fund/pilot research award G015617, University of Michigan to M.C.C. and NINDS/NIH R01NS038712 to H.L.P. The work performed at the University of Minho was funded by the European Regional Development Funds (FEDER), through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the project POCI-01-0145-FEDER-007038. This article was developed under the scope of the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Program (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the FEDER. This work was also supported by FCT and COMPETE through the projects [PTDC/SAU-GMG/112617/2009] (to P.M.) and [EXPL/BIM-MEC/ 0239/2012] (to A.T.C.); by FCT through the project [POCI-01-0145- FEDER-016818 (PTDC/NEU-NMC/3648/2014)] (to P.M.); by National Ataxia Foundation (to P.M. and to A.T.C.); and by Ataxia UK (to P.M.). S.D.S. and A.T.C. were supported by fellowships from FCT, SFRH/BD/ 78388/2011 and SFRH/BPD/102317/2014, respectively. FCT fellowships are co-financed by POPH, QREN, Governo da República Portuguesa and EU/FSE

Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults

Background Underweight and obesity are associated with adverse health outcomes throughout the life course. We estimated the individual and combined prevalence of underweight or thinness and obesity, and their changes, from 1990 to 2022 for adults and school-aged children and adolescents in 200 countries and territories. Methods We used data from 3663 population-based studies with 222 million participants that measured height and weight in representative samples of the general population. We used a Bayesian hierarchical model to estimate trends in the prevalence of different BMI categories, separately for adults (age ≥20 years) and school-aged children and adolescents (age 5–19 years), from 1990 to 2022 for 200 countries and territories. For adults, we report the individual and combined prevalence of underweight (BMI &lt;18·5 kg/m2) and obesity (BMI ≥30 kg/m2). For school&#x2;aged children and adolescents, we report thinness (BMI &lt;2 SD below the median of the WHO growth reference) and obesity (BMI &gt;2 SD above the median). Findings From 1990 to 2022, the combined prevalence of underweight and obesity in adults decreased in 11 countries (6%) for women and 17 (9%) for men with a posterior probability of at least 0·80 that the observed changes were true decreases. The combined prevalence increased in 162 countries (81%) for women and 140 countries (70%) for men with a posterior probability of at least 0·80. In 2022, the combined prevalence of underweight and obesity was highest in island nations in the Caribbean and Polynesia and Micronesia, and countries in the Middle East and north Africa. Obesity prevalence was higher than underweight with posterior probability of at least 0·80 in 177 countries (89%) for women and 145 (73%) for men in 2022, whereas the converse was true in 16 countries (8%) for women, and 39 (20%) for men. From 1990 to 2022, the combined prevalence of thinness and obesity decreased among girls in five countries (3%) and among boys in 15 countries (8%) with a posterior probability of at least 0·80, and increased among girls in 140 countries (70%) and boys in 137 countries (69%) with a posterior probability of at least 0·80. The countries with highest combined prevalence of thinness and obesity in school-aged children and adolescents in 2022 were in Polynesia and Micronesia and the Caribbean for both sexes, and Chile and Qatar for boys. Combined prevalence was also high in some countries in south Asia, such as India and Pakistan, where thinness remained prevalent despite having declined. In 2022, obesity in school-aged children and adolescents was more prevalent than thinness with a posterior probability of at least 0·80 among girls in 133 countries (67%) and boys in 125 countries (63%), whereas the converse was true in 35 countries (18%) and 42 countries (21%), respectively. In almost all countries for both adults and school-aged children and adolescents, the increases in double burden were driven by increases in obesity, and decreases in double burden by declining underweight or thinness. Interpretation The combined burden of underweight and obesity has increased in most countries, driven by an increase in obesity, while underweight and thinness remain prevalent in south Asia and parts of Africa. A healthy nutrition transition that enhances access to nutritious foods is needed to address the remaining burden of underweight while curbing and reversing the increase in obesit

Worldwide trends in hypertension prevalence and progress in treatment and control from 1990 to 2019: a pooled analysis of 1201 population-representative studies with 104 million participants.

BACKGROUND: Hypertension can be detected at the primary health-care level and low-cost treatments can effectively control hypertension. We aimed to measure the prevalence of hypertension and progress in its detection, treatment, and control from 1990 to 2019 for 200 countries and territories. METHODS: We used data from 1990 to 2019 on people aged 30-79 years from population-representative studies with measurement of blood pressure and data on blood pressure treatment. We defined hypertension as having systolic blood pressure 140 mm Hg or greater, diastolic blood pressure 90 mm Hg or greater, or taking medication for hypertension. We applied a Bayesian hierarchical model to estimate the prevalence of hypertension and the proportion of people with hypertension who had a previous diagnosis (detection), who were taking medication for hypertension (treatment), and whose hypertension was controlled to below 140/90 mm Hg (control). The model allowed for trends over time to be non-linear and to vary by age. FINDINGS: The number of people aged 30-79 years with hypertension doubled from 1990 to 2019, from 331 (95% credible interval 306-359) million women and 317 (292-344) million men in 1990 to 626 (584-668) million women and 652 (604-698) million men in 2019, despite stable global age-standardised prevalence. In 2019, age-standardised hypertension prevalence was lowest in Canada and Peru for both men and women; in Taiwan, South Korea, Japan, and some countries in western Europe including Switzerland, Spain, and the UK for women; and in several low-income and middle-income countries such as Eritrea, Bangladesh, Ethiopia, and Solomon Islands for men. Hypertension prevalence surpassed 50% for women in two countries and men in nine countries, in central and eastern Europe, central Asia, Oceania, and Latin America. Globally, 59% (55-62) of women and 49% (46-52) of men with hypertension reported a previous diagnosis of hypertension in 2019, and 47% (43-51) of women and 38% (35-41) of men were treated. Control rates among people with hypertension in 2019 were 23% (20-27) for women and 18% (16-21) for men. In 2019, treatment and control rates were highest in South Korea, Canada, and Iceland (treatment >70%; control >50%), followed by the USA, Costa Rica, Germany, Portugal, and Taiwan. Treatment rates were less than 25% for women and less than 20% for men in Nepal, Indonesia, and some countries in sub-Saharan Africa and Oceania. Control rates were below 10% for women and men in these countries and for men in some countries in north Africa, central and south Asia, and eastern Europe. Treatment and control rates have improved in most countries since 1990, but we found little change in most countries in sub-Saharan Africa and Oceania. Improvements were largest in high-income countries, central Europe, and some upper-middle-income and recently high-income countries including Costa Rica, Taiwan, Kazakhstan, South Africa, Brazil, Chile, Turkey, and Iran. INTERPRETATION: Improvements in the detection, treatment, and control of hypertension have varied substantially across countries, with some middle-income countries now outperforming most high-income nations. The dual approach of reducing hypertension prevalence through primary prevention and enhancing its treatment and control is achievable not only in high-income countries but also in low-income and middle-income settings. FUNDING: WHO

Worldwide trends in hypertension prevalence and progress in treatment and control from 1990 to 2019: a pooled analysis of 1201 population-representative studies with 104 million participants

Background Hypertension can be detected at the primary health-care level and low-cost treatments can effectively control hypertension. We aimed to measure the prevalence of hypertension and progress in its detection, treatment, and control from 1990 to 2019 for 200 countries and territories. Methods We used data from 1990 to 2019 on people aged 30-79 years from population-representative studies with measurement of blood pressure and data on blood pressure treatment. We defined hypertension as having systolic blood pressure 140 mm Hg or greater, diastolic blood pressure 90 mm Hg or greater, or taking medication for hypertension. We applied a Bayesian hierarchical model to estimate the prevalence of hypertension and the proportion of people with hypertension who had a previous diagnosis (detection), who were taking medication for hypertension (treatment), and whose hypertension was controlled to below 140/90 mm Hg (control). The model allowed for trends over time to be non-linear and to vary by age. Findings The number of people aged 30-79 years with hypertension doubled from 1990 to 2019, from 331 (95% credible interval 306-359) million women and 317 (292-344) million men in 1990 to 626 (584-668) million women and 652 (604-698) million men in 2019, despite stable global age-standardised prevalence. In 2019, age-standardised hypertension prevalence was lowest in Canada and Peru for both men and women; in Taiwan, South Korea, Japan, and some countries in western Europe including Switzerland, Spain, and the UK for women; and in several low-income and middle-income countries such as Eritrea, Bangladesh, Ethiopia, and Solomon Islands for men. Hypertension prevalence surpassed 50% for women in two countries and men in nine countries, in central and eastern Europe, central Asia, Oceania, and Latin America. Globally, 59% (55-62) of women and 49% (46-52) of men with hypertension reported a previous diagnosis of hypertension in 2019, and 47% (43-51) of women and 38% (35-41) of men were treated. Control rates among people with hypertension in 2019 were 23% (20-27) for women and 18% (16-21) for men. In 2019, treatment and control rates were highest in South Korea, Canada, and Iceland (treatment >70%; control >50%), followed by the USA, Costa Rica, Germany, Portugal, and Taiwan. Treatment rates were less than 25% for women and less than 20% for men in Nepal, Indonesia, and some countries in sub-Saharan Africa and Oceania. Control rates were below 10% for women and men in these countries and for men in some countries in north Africa, central and south Asia, and eastern Europe. Treatment and control rates have improved in most countries since 1990, but we found little change in most countries in sub-Saharan Africa and Oceania. Improvements were largest in high-income countries, central Europe, and some upper-middle-income and recently high-income countries including Costa Rica, Taiwan, Kazakhstan, South Africa, Brazil, Chile, Turkey, and Iran. Interpretation Improvements in the detection, treatment, and control of hypertension have varied substantially across countries, with some middle-income countries now outperforming most high-income nations. The dual approach of reducing hypertension prevalence through primary prevention and enhancing its treatment and control is achievable not only in high-income countries but also in low-income and middle-income settings. Copyright (C) 2021 World Health Organization; licensee Elsevier