Equilíbrio das pessoas idosas em função da idade, género e composição corporal

Mestrado em GerontologiaBackground: Falls have a high incidence in older people, representing a public health problem. They are most common in women although more mortal for men. It is known that body composition changes with aging and can predict functional and mobility problems. However, it is unknown whether the changes in the systems responsible for balance in humans are associated with age, gender or body composition. This information can contribute to understand the causes of falls and to develop prevention programs. Aim: Explore the balance-differences according to age, gender or body composition in people with 60 years or more. Methods: A quantitative cross-sectional study was conducted. The protocol included socio-demographic, anthropometric and general clinical data. Balance confidence was evaluated with the Activities-specific Balance Confidence (ABC), the balance with the Balance Evaluation System Test (BESTest) and with the Berg Balance Scale (BBS). The statistical analysis was conducted in the Statistical Package for Social Sciences (SPSS) version 22.0 for Windows. The level of significance considered was set at p<0.05. Results: 136 older people (age: 75.9±8.8) participated in this study. Balance was significantly worse with the increase of age (60-69: 86.7±15.2, 70-79: 80.7±16.1 and 80+: 72.4±15.8, p=0.001). Female presented significant worse results than male (Male: 87.0±14.5 and Female: 76.0±16.6, p=0.000). Confidence on balance was high in male and moderate in female (Male: 88.4±14.2 and Female: 76.7±24.7, p=0.033). The age group with more balance confidence was the 70 and 79 years old and the less confident was the older group +80 years old (60-69: 80.1±14.6, 70-79: 85.4±17.1 and 80+: 68.3±26.9, p=0.000). Body composition had no significant differences on balance. Conclusion: Age and gender significantly affect balance in older people and body composition does not seem to have impact on balance or balance confidence in this population. Balance confidence seems to be associated with balance in older people but not always decreases as age increases.Enquadramento: As quedas apresentam uma elevada incidência em pessoas idosas, representando um problema de saúde pública. São mais comuns em mulheres, embora mais mortais para os homens. Sabe-se que as alterações da composição corporal com o envelhecimento podem prever problemas funcionais e de mobilidade. No entanto, desconhece-se se as mudanças nos sistemas responsáveis pelo equilíbrio no ser humano estão associadas ou não com a idade, o género ou com a composição corporal. Esta informação pode contribuir para a compreensão das causas das quedas e desenvolver programas de prevenção. Objetivos: Explorar as diferenças no equilíbrio de acordo com a idade, o género ou a composição corporal em pessoas com idade igual ou superior a 60 anos. Métodos: Foi realizado um estudo transversal quantitativo. O protocolo incluiu recolha de dados sociodemográficos, antropométricos e de clínica geral. A confiança no equilíbrio foi avaliada com a Activities-specific Balance Confidence (ABC), o equilíbrio com o Balance Evaluation System Test (BESTest) e com a Berg Balance Scale (BBS). A análise estatística foi realizada com programa Statistical Package for the Social Sciences (SPSS) versão 22.0 para Windows. O nível de significância considerado foi de p<0.05. Resultados: Participaram neste estudo 136 pessoas idosas (idade: 75.9±8.8). O equilíbrio foi significativamente pior com o aumento da idade (60-69: 86.7±15.2, 70-79: 80.7±16.1 e 80+: 72.4±15.8, p=0,001). O género feminino apresentou significativamente piores resultados do que o género masculino (Masculino: 87.0±14.5 e Feminino: 76.0±16.6, p=0.000) para o equilíbrio. A confiança no equilíbrio apresentou-se elevada no género masculino e moderada no género feminino (Masculino: 88.4±14.2 e Feminino: 76.7±24.7, p=0.033). O grupo de idades com mais confiança no equilíbrio foi o de 70 a 79 anos e com menos confiança o grupo +80 anos (60-69: 80.1±14.6, 70-79: 85.4±17.1 e 80+: 68.3±26.9, p=0.000). A composição corporal não apresentou diferenças significativas no equilíbrio. Conclusão: A idade e o género afetam significativamente o equilíbrio em pessoas idosas, no entanto a composição corporal não parece ter impacto sobre o equilíbrio ou sobre a confiança no equilíbrio nesta população. A confiança do equilíbrio parece estar associada com o equilíbrio em pessoas idosas, contudo nem sempre diminui conforme a idade aumenta

Acute poisoning with Copper Sulphate: a clinical case

A intoxicação aguda pelo sulfato de cobre é rara e frequente- mente acidental. Manifesta-se por náuseas, vómitos, diarreia, anemia hemolítica e, nos casos mais graves, insufi ciência renal, insufi ciência hepática e coma. Os autores descrevem um caso clínico de intoxicação voluntária por sulfato de cobre, cujas principais manifestações clínicas foram náuseas, vómitos esverdeados, diarreia, hipotensão, icterícia e desorientação temporo-espacial. Laboratorialmente traduziu-se por anemia hemolítica com necessidade de terapêutica transfu- sional, disfunção renal (elevação do azoto ureico e da creatinina, e hematúria), e elevação do cobre sérico e urinário, atingindo valores máximos de 2,6 mg/L (N: 0,7-1,4 mg/L) e 1,1 mg/24h, (N <0,1 mg/24h), respectivamente. Realizou terapêutica de suporte e específi ca, com D-penicilamina, com evolução favorável.Acute copper poisoning is rare and frequently accidental. Nau- seas, vomiting, diarrhoea and haemolytic anaemia are its usual manifestations, while severe poisoning results in renal and /or hepatic insuffi ciency and coma. The authors describe a clinical case of voluntary acute copper sulphate poisoning manifested by gastrointestinal symptoms (nauseas, vomiting of a green liquid and diarrhoea), hypotension, jaundice and mental dysfunction. The laboratory results revealed a transfusion dependent haemolytic anaemia, renal dysfunction (rise of blood urea nitrogen and creatinine, as well as haematuria) and elevated serum and urine copper levels, reaching 2.6 mg/L (0.7-1.4) and 1.1 mg/24h, (< 0.1 mg/24h). The patient was treated with D-penicillamine with a favourable outcome

Enhancing the assessment of cardiorespiratory fitness using field tests

Objective: To establish normative values and reference equations of the 6-minute walk test (6MWT), incremental shuttle walk test (ISWT) and unsupported upper limb exercise test (UULEX) for Portuguese adults. Design: Cross-sectional study. Descriptive statistics and differences between age decades and genders were explored using univariate general linear models to compute reference values. Reference equations were established with a forward stepwise multiple regression. Setting: General community. Participants: In total, 645 adult volunteers without disabilities [43% male, mean age 55.1 (standard deviation 23.6) years] were recruited from the university campus and surrounding community. Intervention: Not applicable. Main outcome measures: Data on age, gender, height, weight, body mass index and smoking status were collected using a structured questionnaire. Physical activity was evaluated using the Brief Physical Activity Assessment Tool. Participants performed two repetitions of the 6MWT, ISWT and UULEX, and the best repetition was used for analysis. Results: Overall, performance was better in males than in females, and decreased with age. Participants’ performance was significantly reduced after the sixth decade of life compared with the other decades (P < 0.001). Reference equations were: 6MWT = 226.93 − (5.00 × age) + (360.41 × height), R2 = 71%; ISWT = 393.81 − (17.98 × age) + (185.64 × gender) + (775.88 × height), R2 = 83%; and UULEX = 16.71 − (0.14 × age) + (2.66 × gender), R2 = 57%. Conclusion: Leg or arm exercise field tests are affected significantly by age and gender. These results will aid health professionals to interpret the results of field tests obtained from healthy or diseased adult populations.publishe

Lifestyle integrated functional exercise for people with interstitial lung disease (iLiFE): a mixed-methods feasibility study

Background: People with interstitial lung disease (ILD) present low levels of physical activity (PA) and spend most of their time at home, especially in advanced stages of the disease. The Lifestyle Integrated Functional Exercise for people with ILD (iLiFE) embedding PA in patients’ daily routines was developed and implemented. Objectives: This study aimed to explore the feasibility of iLiFE. Methods: A pre/post mixed-methods feasibility study was conducted. Feasibility of iLiFE was determined by participant recruitment/retention, adherence, feasibility of outcome measures and adverse events. Measures of PA, sedentary behaviour, balance, muscle strength, functional performance/capacity, exercise capacity, impact of the disease, symptoms (i.e., dyspnoea, anxiety, depression, fatigue and cough) and health-related quality of life were collected at baseline and post-intervention (12-weeks). Semi-structured interviews with participants were conducted in-person immediately after iLiFE. Interviews were audio-recorded, transcribed and analysed by deductive thematic analysis. Results: Ten participants (5,, 77§3y; FVCpp 77.1 § 4.4, DLCOpp 42.4 § 6.6) were included, but only nine completed the study. Recruitment was challenging (30%) and retention high (90%). iLiFE was feasible, with excellent adherence (84.4%) and no adverse events. Missing data were associated with one dropout and noncompliance with the accelerometer (n = 1). Participants reported that iLiFE contributed to (re)gain control in their daily life, namely through improving their well-being, functional status and motivation. Weather, symptoms, physical impairments and lack of motivation were identified as threats to keep an active lifestyle. Conclusions: iLiFE seems to be feasible, safe and meaningful for people with ILD. A randomised controlled trial is needed to strengthen these promising findings.publishe

LIFE4D: programa de atividade física no domicílio de pessoas com demência

It is internationally recommended and also a wish of people with dementia to live at home for as long as possible. Improving or maintaining their functional independence is therefore a priority. Health-related physical fitness (HRPF) and other meaningful domains (e.g., health-related quality of life) are important to maintain or improve the performance on activities of daily living and can influence and be influenced by being physically active. Nevertheless, physical activity programmes for people with dementia, especially conducted at home, are scarce. Thus, the main aim of this research work was to develop/adapt, implement and evaluate the Lifestyle Integrated Functional Exercise for People with Dementia (LiFE4D). Specifically, it aimed to: i) identify and synthetize the effects of home-based physical activity programmes for people with dementia; ii) design/adapt LiFE4D with daily routine strategies to maintain or increase HRPF; iii) examine the feasibility, efficacy and effectiveness of LiFE4D on HRPF and additional meaningful measures; iv) explore the perceived motivators/facilitators, barriers and impacts of LiFE4D in people with dementia and their carers. Five studies (systematic review, protocol and original studies I, II and III), one manual and one book chapter were conducted. The systematic review addressed the specific aim i). This study showed that, despite high heterogeneity of interventions and domains assessed, home-based physical activity programmes seem to be safe and effective in delaying cognitive function decline, and improving behavioural and psychological symptoms of dementia, activities of daily living performance, HRPF and carer’s burden. The protocol study, manual and book chapter addressed aim ii). Original studies I (pilot study) and II (main study) addressed aim iii). Findings have shown that LiFE4D is feasible and safe to be conducted at home of people with dementia, and it is an efficacious and effective intervention to improve HRPF and health-related quality of life in this population. Original study III (qualitative study) addressed aim iv). This study showed that people with dementia and their carers perceived more motivators/facilitators than barriers, and identified only positive impacts from their participation in LiFE4D. Although different perceptions about LiFE4D existed, both people with dementia and their carers identified the subthemes professional support, easy exercises, tiredness and lack of time in common. This research offers relevant information to increase the confidence of health professionals into promoting physical activity at home for people with dementia, with a person-centred, innovative intervention, capable of promoting the independence of this population, so they can live well and longer at home. This thesis adds important knowledge to guide future interventions, guidelines and political decisions to increase access to physical activity at home for people living with dementia.É internacionalmente recomendado e também um desejo das pessoas com demência que estas vivam em casa o máximo de tempo possível. Manter ou melhorar a sua independência funcional é, portanto, uma prioridade. A aptidão física relacionada com a saúde e outros domínios significativos (p.e., qualidade de vida relacionada com a saúde) ajudam a manter ou melhorar o desempenho nas atividades de vida diária (AVD) e podem influenciar e ser influenciados pela atividade física (AF). No entanto, os programas de AF para pessoas com demência, principalmente domiciliários, são escassos. Assim, o objetivo principal deste trabalho foi desenvolver/adaptar, implementar e avaliar o Lifestyle Integrated Functional Exercise em pessoas com demência (LiFE4D). Os objetivos específicos foram: i) identificar e sintetizar os efeitos de programas de AF no domicílio para pessoas com demência; ii) desenvolver/adaptar o LiFE4D com estratégias envolvidas na rotina diária para manter ou aumentar a aptidão física relacionada com a saúde; iii) examinar a viabilidade, eficácia e efetividade do LiFE4D na aptidão física relacionada com a saúde e medidas significativas adicionais; e iv) explorar os motivadores/ facilitadores, barreiras e impactos do LiFE4D percecionados pelas pessoas com demência e seus cuidadores. Para dar resposta a estes objetivos, foram realizados cinco estudos (revisão sistemática, protocolo e estudos originais I, II e III), um manual e um capítulo de um livro. A revisão sistemática abordou o objetivo específico i). Este estudo demonstrou que, apesar da elevada heterogeneidade nas intervenções e domínios avaliados, a AF no domicílio parece ser segura e eficaz no atraso do declínio da função cognitiva, e na melhoria dos sintomas comportamentais e psicológicos de demência, do desempenho nas AVD, da aptidão física relacionada com a saúde e da sobrecarga do cuidador. O protocolo, o manual e o capítulo do livro abordaram o objetivo ii). Os estudos originais I (estudo piloto) e II (estudo principal) abordaram o objetivo iii). Os resultados demonstraram que o LiFE4D é viável e seguro para ser conduzido no domicílio de pessoas com demência, e é eficaz e efetivo na melhoria da aptidão física e qualidade de vida relacionadas com a saúde nesta população. O estudo original III (estudo qualitativo) deu resposta ao objetivo iv). Este estudo demonstrou que as pessoas com demência e seus cuidadores percecionaram mais motivadores/facilitadores do que barreiras e identificaram apenas impactos positivos da sua participação no LiFE4D. Apesar das diferentes perceções sobre o LiFE4D, tanto as pessoas com demência como os seus cuidadores identificaram os subtemas suporte profissional, facilidade dos exercícios, cansaço e falta de tempo em comum. Esta investigação oferece informações relevantes para aumentar a confiança dos profissionais de saúde na promoção de AF no domicílio de pessoas com demência, com uma intervenção centrada na pessoa, inovadora e capaz de promover a independência desta população, para que vivam bem e por mais tempo em casa. Esta tese agrega conhecimentos importantes para orientar intervenções futuras, diretrizes e decisões políticas para aumentar o acesso à AF no domicílio de pessoas que vivem com demência.Programa Doutoral em Gerontologia e Geriatri

Untangling the relationship between physical activity and physical capacity in people with dementia

Physical capacity (PC) is an important determinant for physical activity (PA). Nevertheless, an increase in PC does not imply a more physically active lifestyle but the relationship between these two domains is still unknown in people with dementia. We explored the relationship and the distribution of people with dementia across the four quadrants of PC and PA levels. An exploratory cross-sectional study with community-dwelling people with dementia was conducted. PA was assessed with accelerometery. Participants wore the device for 7 consecutive days during waking hours on the right side of their hip. Data of at least 4 days and minimum of 8h/day were used for analysis. PC was measured with the 2 Minute Step Tests (2MST). Receiver operating characteristic curve was performed to establish a cut-off point for 2MST able to discriminate physically active from non-physically active people with dementia. Correlations were explored with the Spearman Correlation Coefficient. Twenty-five people with dementia (79 [72-83] years old; 16[64%] female) participated in this study. A cut-off of 34 steps was found for the 2MST (91.7% (95%CI 61.5-99.8%) sensitivity and 69.2% (95%CI 38.6-90.9%) specificity). Significant, moderate and positive correlations (rs=0.66; p<0.001) were found between PC and PA. In this study, people with dementia who presented low or high PC were also low or high physically active, respectively. Future studies with larger samples should be conducted to corroborate these results, exploring other characteristics of participants and to understand their influence on physically active lifestyle behaviour in this population.publishe

Unravelling associations between fatigue and key outcomes in patients with COPD

Fatigue is a prevalent, multi-dimensional and burdensome symptom in chronic obstructive pulmonary disease (COPD), yet it is still underdiagnosed, undertreated and little understood. This study explored associations between fatigue and key outcomes in COPD and which of them could explain fatigue. A cross-sectional study with people with COPD was conducted. Assessments included the modified functional assessment of chronic illness therapy-fatigue subscale (mod-FACIT-FS; lower scores mean worst fatigue), modified Medical Research Council dyspnea scale (mMRC), six-minute walk test (6MWT), COPD assessment test (CAT) and St. George’s Respiratory Questionnaire (SGRQ). Correlations were explored with the Pearson’s (r)/Spearman’s (rs) coefficients. Multiple linear regressions were performed with the stepwise model and the variance inflation factor (VIF) was confirmed. 89 people with COPD (68±9years; 76%male; 50±18FEV1pp) were enrolled. Significant moderate correlations were found between the mod-FACIT-FS and all outcomes (mMRC:rs=-0.53; 6MWT:r=0.50; CAT:r=-0.56; SGRQ:r=-0.63; p<0.01). The linear regression model showed that SGRQ, 6MWT and CAT explained 51% of the variability in the mod-FACIT-FS (p<0.01; VIF<2)(Figure 1). This study suggests that health-related quality of life, exercise tolerance and impact of the disease are correlated with fatigue in COPD. Comprehensive assessments including fatigue are needed to optimise COPD management.publishe

The landscape of epilepsy-related GATOR1 variants

Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway Methods: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. Results: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. Conclusion: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP

Correction to: The landscape of epilepsy-related GATOR1 variants

International audienceThe original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML, the PDF was correct at the time of publication

Correction: The landscape of epilepsy-related GATOR1 variants

International audienceThe original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article