RESUMO
OBJECTIVE: Web-based dietary interventions could support healthy eating. The Advice, Ideas and Motivation for My Eating (Aim4Me) trial investigated the impact of three levels of personalised web-based dietary feedback on diet quality in young adults. Secondary aims were to investigate participant retention, engagement and satisfaction. DESIGN: Randomised controlled trial. SETTING: Web-based intervention for young adults living in Australia. PARTICIPANTS: 18-24-year-olds recruited across Australia were randomised to Group 1 (control: brief diet quality feedback), Group 2 (comprehensive feedback on nutritional adequacy + website nutrition resources) or Group 3 (30-min dietitian consultation + Group 2 elements). Australian Recommended Food Score (ARFS) was the primary outcome. The ARFS subscales and percentage energy from nutrient-rich foods (secondary outcomes) were analysed at 3, 6 and 12 months using generalised linear mixed models. Engagement was measured with usage statistics and satisfaction with a process evaluation questionnaire. RESULTS: Participants (n 1005, 85 % female, mean age 21·7 ± 2·0 years) were randomised to Group 1 (n 343), Group 2 (n 325) and Group 3 (n 337). Overall, 32 (3 %), 88 (9 %) and 141 (14 %) participants were retained at 3, 6 and 12 months, respectively. Only fifty-two participants (15 % of Group 3) completed the dietitian consultation. No significant group-by-time interactions were observed (P > 0·05). The proportion of participants who visited the thirteen website pages ranged from 0·6 % to 75 %. Half (Group 2 = 53 %, Group 3 = 52 %) of participants who completed the process evaluation (Group 2, n 111; Group 3, n 90) were satisfied with the programme. CONCLUSION: Recruiting and retaining young adults in web-based dietary interventions are challenging. Future research should consider ways to optimise these interventions, including co-design methods.
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Dieta , Motivação , Adulto Jovem , Humanos , Feminino , Adulto , Masculino , Austrália , Retroalimentação , Análise Custo-BenefícioRESUMO
BACKGROUND: To evaluate the preliminary efficacy, feasibility and acceptability of the 3-month Body Balance Beyond (BBB) online program among Australian women with overweight/obesity and recent gestational diabetes mellitus. METHODS: Women were randomised into either: 1) High Personalisation (HP) (access to 'BBB' website, video coaching sessions, text message support); 2) Medium Personalisation (MP) (website and text message support); or 3) Low Personalisation (LP) (website only). Generalised linear mixed models were used to evaluate preliminary efficacy, weight, diet quality, physical activity levels, self-efficacy and quality of life (QoL) at baseline and 3-months. Feasibility was assessed by recruitment and retention metrics and acceptability determined via online process evaluation survey at 3-months. RESULTS: Eighty three women were randomised, with 76 completing the study. Self-efficacy scores showed significant improvements in confidence to resist eating in a variety of situations from baseline to 3-months in HP compared to MP and LP groups (P=.03). The difference in mean QoL scores favoured the HP compared to MP and LP groups (P=.03). Half of the women (HP n=17[81%], MP n=12[75%], LP n=9[56%]) lost weight at 3-months. No significant group-by-time effect were reported for other outcomes. Two-thirds of women in the HP group were satisfied with the program overall and 86% would recommend it to others, compared with 25% and 44% in the MP group, and 14% and 36% in the LP group, respectively. CONCLUSIONS: Video coaching sessions were associated with improvements in QoL scores and self-efficacy, however further refinement of the BBB website and text messages support could improve program acceptability. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12619000162112 , registered 5 February 2019.
Assuntos
Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Austrália , Diabetes Mellitus Tipo 2/terapia , Diabetes Gestacional/terapia , Feminino , Humanos , Gravidez , Qualidade de Vida , Comportamento de Redução do RiscoRESUMO
BACKGROUND: Knowledge of which physical activity programs are most effective for older adults in different sub-populations and contexts is limited. The objectives of this rapid review were to: 1) Overview evidence evaluating physical activity programs/services for older adults; and 2) Describe impact on physical activity, falls, intrinsic capacity (physical domain), functional ability (physical, social, and cognitive/emotional domains), and quality of life. METHODS: We conducted a rapid review of primary studies from 350 systematic reviews identified in a previous scoping review (March 2021: PEDro, MEDLINE, CINAHL, Cochrane Database). For Objective 1, we included intervention studies investigating physical activity programs/services in adults ≥ 60 years. Of these, we included good quality (≥ 6/10 PEDro scale) randomised controlled trials (RCTs) with ≥ 50 participants per group in Objective 2. RESULTS: Objective 1: Of the 1421 intervention studies identified from 8267 records, 79% were RCTs, 87% were in high income countries and 39% were good quality. Objective 2: We identified 87 large, good quality RCTs (26,861 participants). Overall activity promotion, structured exercise and recreation/sport had positive impacts (≥ 50% between-group comparisons positive) across all outcome domains. For overall activity promotion (21 intervention groups), greatest impacts were on physical activity (100% positive) and social outcomes (83% positive). Structured exercise (61 intervention groups) had particularly strong impacts on falls (91% positive), intrinsic capacity (67% positive) and physical functioning (77% positive). Recreation/sport (24 intervention groups) had particularly strong impacts on cognitive/emotional functioning (88% positive). Multicomponent exercise (39 intervention groups) had strong impacts across all outcomes, particularly physical activity (95% positive), falls (90% positive) and physical functioning (81% positive). Results for different populations and settings are presented. CONCLUSION: Evidence supporting physical activity for older adults is positive. We outline which activity types are most effective in different populations and settings.
Assuntos
Terapia por Exercício , Exercício Físico , Idoso , Cognição , Terapia por Exercício/métodos , Humanos , Qualidade de VidaRESUMO
OBJECTIVE: The aim of this study was to establish reference values for rate of torque development (RTD) and muscle torque steadiness (MTS) of knee extensors across the lifespan, and evaluate if these measures are independently associated with Osteoarthritis Research Society International (OARSI)-recommended performance-based measures (6-minute walk test, 30-second chair stand test, stair climb test) and other clinical variables. METHODS: In this cross-sectional observational study, knee extensor strength of 764 participants (12-89 years) from the 1000 Norms Project was assessed via fixed dynamometry. Age- and sex-stratified normative RTD (Nms-1 kg-1) and MTS (Nm kg-1) values were presented as means and 95% confidence intervals. Correlations and multiple regression analyses were calculated to identify factors (age, sex, height, weight, OARSI-recommended performance-based measures, Knee Injury and Osteoarthritis Outcome Score, vertical jump, long jump, grip strength, basic gait-related knee biomechanics) independently associated with RTD or MTS. RESULTS: Age- and sex-stratified normative RTD and MTS reference values were generated. Male subjects exhibited higher RTD but poorer MTS (less steady) than female subjects across all age groups. Better performance in OARSI-recommended performance-based measures, vertical jump, long jump, and grip strength were associated with greater RTD but poorer MTS. Thirty-second chair stand test, stair climb test, vertical jump, long jump, and grip strength were independent determinants of RTD and MTS. CONCLUSIONS: The RTD and MTS demonstrated associations with clinical variables relevant to knee osteoarthritis. The normative reference values generated may help identify the presence and extent of impairments in RTD and MTS associated with knee osteoarthritis and assist in developing responsive outcome measures for therapeutic trials.
Assuntos
Força Muscular , Músculo Esquelético , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Valores de Referência , TorqueRESUMO
Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1. A 12-week Phase 2a trial was conducted using 1000 mg daily oral levocarnitine tartrate supplementation. Recruited children were between 8 and 12 years old with a clinical diagnosis of NF1, history of muscle weakness and fatigue, and naïve to L-carnitine. Primary outcomes were safety (self-reporting, biochemical testing) and compliance. Secondary outcomes included plasma acylcarnitine profiles, functional measures (muscle strength, long jump, handwriting speed, 6-minute-walk test [6MWT]), and parent-reported questionnaires (PedsQL™, CBCL/6-18). Six children completed the trial with no self-reported adverse events. Biochemical tests for kidney and liver function were normal, and the average compliance was 95%. Plasma acylcarnitine levels were low, but within a range not clinically linked to carnitine deficiency. For strength measures, there was a mean 53% increase in dorsiflexion strength (95% confidence interval [CI] 8.89-60.75; p = 0.02) and mean 66% increase in plantarflexion strength (95% CI 12.99-134.1; p = 0.03). In terms of muscle performance, there was a mean 10% increase in long jump distance (95% CI 2.97-16.03; p = 0.01) and 6MWT distance (95% CI 5.88-75.45; p = 0.03). Comparison with the 1000 Norms Project data showed a significant improvement in Z-score for all of these measures. Parent reports showed no negative impact on quality of life, and the perceived benefits led to the majority of individuals remaining on L-carnitine after the study. Twelve weeks of L-carnitine supplementation is safe and feasible in children with NF1, and a Phase 3 trial should confirm the efficacy of treatment.
Assuntos
Carnitina/administração & dosagem , Fadiga/dietoterapia , Debilidade Muscular/dietoterapia , Neurofibromatose 1/dietoterapia , Cardiomiopatias/dietoterapia , Cardiomiopatias/metabolismo , Cardiomiopatias/patologia , Carnitina/efeitos adversos , Carnitina/deficiência , Carnitina/metabolismo , Criança , Suplementos Nutricionais/efeitos adversos , Fadiga/genética , Fadiga/patologia , Feminino , Humanos , Hiperamonemia/dietoterapia , Hiperamonemia/metabolismo , Hiperamonemia/patologia , Masculino , Força Muscular/efeitos dos fármacos , Debilidade Muscular/metabolismo , Debilidade Muscular/patologia , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/fisiopatologia , Doenças Musculares/dietoterapia , Doenças Musculares/metabolismo , Doenças Musculares/patologia , Neurofibromatose 1/complicações , Neurofibromatose 1/metabolismo , Neurofibromatose 1/patologia , Qualidade de VidaRESUMO
INTRODUCTION/AIMS: We explored correlates of night-time and exercise-associated lower limb cramps in participants of the 1000 Norms Project. METHODS: A volunteer community sample of healthy people aged ≥18 y underwent assessment of motor function and physical performance, and were questioned about muscle cramps in the previous 3 mo. RESULTS: Of 491 (221 female) participants age 18-101 y (mean: 59.12; SD: 18.03), about 1 in 3 experienced night-time lower limb cramps, and about 1 in 4 experienced exercise-associated lower limb cramps. For night-cramps, a one unit increase in Beighton score (greater whole-body flexibility) was associated with a 31% reduced odds of cramps (odds ratio [OR] = 0.69, 95% confidence interval [CI]:0.45, 0.99) and passing all three lesser-toe strength tests was associated with 50% reduced odds of cramps (OR = 0.50, 95% CI: 0.32, 0.78). For exercise-associated cramps, participants in the fourth (lowest arch) quartile of Foot Posture Index were 2.1 times (95% CI: 1.11, 3.95) more likely to experience cramps than participants in the first (highest arch) quartile. Odds of experiencing both types of cramps versus no cramps were lower with passing all three lesser-toe strength tests (OR = 0.40, 95% CI: 0.19, 0.85) and better performance in the six-minute walk test (OR = 0.997, 95% CI: 0.996, 0.998). DISCUSSION: People who experienced both exercise-associated and night-time cramps were less functional. The association between night-time cramps with less whole-body flexibility and reduced lesser-toe flexor strength should be explored to determine causation. Planovalgus (low-arched) foot type was independently associated with exercise-associated cramps. The effectiveness of foot orthoses for secondary prevention of exercise-associated cramps in people with low-arched feet should be explored.
Assuntos
Exercício Físico/fisiologia , Extremidade Inferior/fisiopatologia , Cãibra Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Postura/fisiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cãibra Muscular/etiologia , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000. CONCLUSIONS: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and <3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.
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Atividades Cotidianas , Destreza Motora , Força Muscular , Distrofia Miotônica/fisiopatologia , Adolescente , Criança , Desenvolvimento Infantil , Pré-Escolar , Comunicação , Progressão da Doença , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Distrofia Miotônica/genética , Miotonina Proteína Quinase/genética , Comportamento Social , Expansão das Repetições de Trinucleotídeos , Teste de CaminhadaRESUMO
OBJECTIVES: To establish normative reference values for work ability in healthy Australian adults using the Work Ability Score and investigate the association of physical performance factors. METHODS: The Work Ability Score was collected from 720 participants aged 18-101 years from the 1000 Norms Project. Physical performance was evaluated by assessing isometric strength of 13 muscle groups; flexibility of six joints; and 11 functional measures categorised as gross motor, fine motor and balance tasks. Correlations and multiple regression analyses were performed to identify physical performance factors independently associated with work ability. RESULTS: Age-stratified reference values were generated for work ability. Work ability increased during young adulthood (18-44 years) and declined from middle adulthood (45-64 years) into older adulthood (≥65 years), with no sex differences. Greater gross motor function and balance correlated with work ability (r=-0.498 to -0.285; p<0.001). Multiple regression identified younger age, being employed and a faster timed up and down stairs test as significant independent factors associated with work ability (r2=0.333, p<0.001). CONCLUSIONS: Reference data can be used to identify individuals with low work ability. This study has identified physical factors associated with work ability that can potentially be targeted to maintain longevity in work. Physical tests such as the timed up and down stairs test may assist in the development of objective job-specific screening tools to assess work ability, supplementing subjective evaluation.
Assuntos
Envelhecimento/fisiologia , Aptidão Física/fisiologia , Avaliação da Capacidade de Trabalho , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Austrália , Estudos Transversais , Feminino , Humanos , Contração Isométrica/fisiologia , Masculino , Pessoa de Meia-Idade , Força Muscular/fisiologia , Equilíbrio Postural/fisiologia , Valores de Referência , Análise de Regressão , Adulto JovemRESUMO
Melanoma is notable for its metastatic propensity, lethality in the advanced setting and association with ultraviolet exposure early in life. To obtain a comprehensive genomic view of melanoma in humans, we sequenced the genomes of 25 metastatic melanomas and matched germline DNA. A wide range of point mutation rates was observed: lowest in melanomas whose primaries arose on non-ultraviolet-exposed hairless skin of the extremities (3 and 14 per megabase (Mb) of genome), intermediate in those originating from hair-bearing skin of the trunk (5-55 per Mb), and highest in a patient with a documented history of chronic sun exposure (111 per Mb). Analysis of whole-genome sequence data identified PREX2 (phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2)--a PTEN-interacting protein and negative regulator of PTEN in breast cancer--as a significantly mutated gene with a mutation frequency of approximately 14% in an independent extension cohort of 107 human melanomas. PREX2 mutations are biologically relevant, as ectopic expression of mutant PREX2 accelerated tumour formation of immortalized human melanocytes in vivo. Thus, whole-genome sequencing of human melanoma tumours revealed genomic evidence of ultraviolet pathogenesis and discovered a new recurrently mutated gene in melanoma.
Assuntos
Genoma Humano/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Melanoma/genética , Mutação/genética , Luz Solar/efeitos adversos , Pontos de Quebra do Cromossomo/efeitos da radiação , Dano ao DNA , Análise Mutacional de DNA , Regulação Neoplásica da Expressão Gênica , Fatores de Troca do Nucleotídeo Guanina/metabolismo , Humanos , Melanócitos/metabolismo , Melanócitos/patologia , Melanoma/patologia , Mutagênese/efeitos da radiação , Mutação/efeitos da radiação , Oncogenes/genética , Raios Ultravioleta/efeitos adversosRESUMO
Background: patient and public involvement (PPI) in research has been linked with numerous beneficial impacts, however, evidence for older people's involvement is limited. Objectives: to evaluate the impacts of involving older people in health and social care research on older co-researchers, academic researchers, and research processes and outcomes. A secondary aim was to explore critical success factors and future considerations for PPI. Design: systematic review. Methods: six databases were searched for English language articles published between 2006 and 2017. A supplementary search was conducted. Two authors independently retrieved articles using standardised inclusion criteria and data extraction forms. Articles reporting formal evaluation of older people's involvement were included. Results: nine articles, all using qualitative methodology, were included. Benefits for older co-researchers included psychological and social benefits, new learning, and activism and career opportunities, while challenging impacts comprised demanding workloads, difficult relationships and dissatisfaction with level of involvement. Benefits for academic researchers entailed new learning and shared workloads; challenges related to demanding workloads and difficult relationships. Both positive and negative effects on research quality and impact were observed. Benefits for participants and the community were demonstrated. Building relationships, facilitating communication and breaking down barriers to participation were identified as critical success factors. Conclusions: evidence for the impacts of older people's involvement is mixed although benefits appear to outweigh the challenges. Future considerations for PPI include matching older people's skills and motivations to the project and level of involvement, and establishing an iterative research process in which evaluation is embedded.
Assuntos
Envelhecimento/psicologia , Atitude do Pessoal de Saúde , Pesquisa Biomédica/métodos , Pesquisa Participativa Baseada na Comunidade/métodos , Conhecimentos, Atitudes e Prática em Saúde , Participação do Paciente , Pesquisadores/psicologia , Serviço Social/métodos , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Comportamento Cooperativo , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Objectives: The primary aim of this study was to evaluate generalized joint hypermobility (GJH) according to the Beighton scoring system in an Australian population. Secondary aims were to identify whether the commonly used Beighton score cut-off of ⩾4 is appropriate, and to suggest age- and sex-specific Beighton score cut-offs across the lifespan. Methods: A thousand individuals aged 3-101 years were assessed for GJH with the Beighton scoring system. Differences between age, sex and ethnicity were investigated. The appropriateness of the ⩾4 cut-off was investigated with use of a binary logistic regression. Each Beighton score cut-off was established as the nearest Beighton score that delineated the uppermost 5% of the population. Results: Overall, females and non-Caucasians had higher Beighton scores across the lifespan (P < 0.001). Based on a binary logistic regression model, if a cut-off of ⩾4 was utilized, the Beighton scoring system demonstrated a sensitivity of 0.8% and a specificity of 99.3% (P < 0.001). A cut-off of ⩾4 was only found to be appropriate for females aged 40-59 years and males aged 8-39 years. Conclusion: Beighton scores varied across the lifespan and were significantly influenced by age, sex and ethnicity. Assessing GJH using the Beighton scoring system required age- and sex-specific cut-off scores based on the uppermost 5% values. This was confirmed by the low sensitivity, high specificity and 60% false-positive rate if a cut-off of ⩾4 was used for both sexes across the lifespan. To lower the risk of a false-positive diagnosis of GJH, further tests of hypermobility need to be utilized.
Assuntos
Etnicidade , Instabilidade Articular/diagnóstico , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Austrália , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Exame Físico , Sensibilidade e Especificidade , Fatores Sexuais , Adulto JovemRESUMO
INTRODUCTION: Hand-held dynamometry (HHD) is commonly used to measure ankle plantarflexion strength but has variable reliability measuring higher forces. Fixed HHD is suggested to improve reliability. We, therefore, compared the reliability, consistency, and accuracy of measuring plantarflexion strength. METHODS: Plantarflexion strength was measured in 25 healthy individuals with fixed HHD and HHD alone. Intraclass correlation coefficients (ICC2,2 ), SEM, minimal detectable change, and Spearman correlation coefficients were calculated to assess inter-trial repeatability, consistency, agreement, and accuracy. RESULTS: Both methods were repeatable (ICC2,2 0.96 to 0.98) and highly correlated (Spearman rho = 0.815; P < 0.01). Fixed HHD produced significantly higher force outputs. HHD alone provided more consistent force values. CONCLUSIONS: Both methods of measuring ankle plantarflexion force were reliable. Force measured with fixed HHD will likely be more accurate for adults and individuals with greater strength, while HHD alone will be more consistent for individuals with lower strength. Muscle Nerve 56: 896-900, 2017.
Assuntos
Tornozelo/fisiologia , Contração Isométrica/fisiologia , Dinamômetro de Força Muscular , Força Muscular/fisiologia , Músculo Esquelético/fisiologia , Adolescente , Adulto , Idoso , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Adulto JovemRESUMO
Prostate cancer is the second most common cause of male cancer deaths in the United States. However, the full range of prostate cancer genomic alterations is incompletely characterized. Here we present the complete sequence of seven primary human prostate cancers and their paired normal counterparts. Several tumours contained complex chains of balanced (that is, 'copy-neutral') rearrangements that occurred within or adjacent to known cancer genes. Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumours lacking ETS fusions. This observation suggests a link between chromatin or transcriptional regulation and the genesis of genomic aberrations. Three tumours contained rearrangements that disrupted CADM2, and four harboured events disrupting either PTEN (unbalanced events), a prostate tumour suppressor, or MAGI2 (balanced events), a PTEN interacting protein not previously implicated in prostate tumorigenesis. Thus, genomic rearrangements may arise from transcriptional or chromatin aberrancies and engage prostate tumorigenic mechanisms.
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Genoma Humano/genética , Neoplasias da Próstata/genética , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Transporte/genética , Estudos de Casos e Controles , Moléculas de Adesão Celular/genética , Cromatina/genética , Cromatina/metabolismo , Aberrações Cromossômicas , Pontos de Quebra do Cromossomo , Epigênese Genética/genética , Regulação Neoplásica da Expressão Gênica , Guanilato Quinases , Humanos , Masculino , PTEN Fosfo-Hidrolase/genética , PTEN Fosfo-Hidrolase/metabolismo , Recombinação Genética/genética , Transdução de Sinais/genética , Transcrição GênicaRESUMO
OBJECTIVES: To provide reference data for the Cumberland Ankle Instability Tool (CAIT) and to investigate the prevalence and correlates of perceived ankle instability in a large healthy population. DESIGN: Cross-sectional observational study. SETTING: University laboratory. PARTICIPANTS: Self-reported healthy individuals (N=900; age range, 8-101y, stratified by age and sex) from the 1000 Norms Project. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Participants completed the CAIT (age range, 18-101y) or CAIT-Youth (age range, 8-17y). Sociodemographic factors, anthropometric measures, hypermobility, foot alignment, toes strength, lower limb alignment, and ankle strength and range of motion were analyzed. RESULTS: Of the 900 individuals aged 8 to 101 years, 203 (23%) had bilateral and 73 (8%) had unilateral perceived ankle instability. The odds of bilateral ankle instability were 2.6 (95% confidence interval [CI], 1.7-3.8; P<.001) times higher for female individuals, decreased by 2% (95% CI, 1%-3%; P=.001) for each year of increasing age, increased by 3% (95% CI, 0%-6%; P=.041) for each degree of ankle dorsiflexion tightness, and increased by 4% (95% CI, 2%-6%, P<.001) for each centimeter of increased waist circumference. CONCLUSIONS: Perceived ankle instability was common, with almost a quarter of the sample reporting bilateral instability. Female sex, younger age, increased abdominal adiposity, and decreased ankle dorsiflexion range of motion were independently associated with perceived ankle instability.
Assuntos
Articulação do Tornozelo/fisiopatologia , Instabilidade Articular/epidemiologia , Instabilidade Articular/psicologia , Percepção , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos Transversais , Voluntários Saudáveis/psicologia , Humanos , Instabilidade Articular/fisiopatologia , Pessoa de Meia-Idade , Prevalência , Amplitude de Movimento Articular , Fatores Sexuais , Circunferência da Cintura , Adulto JovemRESUMO
Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%-15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome.
Assuntos
Síndrome de Cockayne/diagnóstico , Síndrome de Cockayne/genética , DNA Polimerase III/genética , Mutação em Linhagem Germinativa , Síndrome de Werner/diagnóstico , Adolescente , Adulto , Alelos , Substituição de Aminoácidos , Linhagem Celular Transformada , Criança , Instabilidade Cromossômica , Aberrações Cromossômicas , Análise Mutacional de DNA , DNA Polimerase III/química , Diagnóstico Diferencial , Fácies , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Fenótipo , Conformação Proteica , Sistema de Registros , Adulto JovemRESUMO
PURPOSE: This study aimed to compare the responsiveness of patient-reported and device-based instruments within four physical activity trials. METHODS: This was a secondary analysis of four randomized trials that used both a patient-reported outcome measure (the Incidental and Planned Exercise Questionnaire (IPEQ)) and a device-based instrument (ActiGraph or ActivPAL) to measure physical activity. The four trials included were (i) Activity and MObility UsiNg Technology (AMOUNT), digitally enabled exercises in those undertaking aged care and neurological rehabilitation; (ii) Balance Exercise Strength Training at Home, home-based balance and strength exercises in community-dwelling people 65 yr or older; (iii) Coaching for Healthy Ageing (CHAnGE), physical activity coaching and fall prevention intervention in community-dwelling people 60 yr or older; and (iv) Fitbit trial, fall prevention and physical activity promotion with health coaching and activity monitor in community-dwelling people 60 yr or older. We estimated treatment effects for all variables within each physical activity instrument using regression analyses and expressed results as effect sizes (ES). RESULTS: Overall, device-based instruments were more responsive among healthy older adults (ES range, 0.01 to 0.32), whereas the IPEQ was more responsive among adults requiring rehabilitation (ES range, -0.06 to 0.35). Both the IPEQ and device-based instruments were more responsive in trials that promoted walking via coaching participants to increase their daily steps (AMOUNT (ES range, -0.06 to 0.35), CHAnGE (ES range, -0.24 to 0.22), and Fitbit trial (ES range, -0.23 to 0.32)). Individual variables within the IPEQ and device-based instruments varied in their responsiveness (ES range, -0.13 to 0.20). CONCLUSIONS: Both the IPEQ and device-based instruments are able to detect small changes in physical activity levels. However, responsiveness varies across different interventions and populations. Our findings provide guidance for researchers and clinicians in selecting an appropriate instrument to measure changes in physical activity.
Assuntos
Exercício Físico , Treinamento Resistido , Idoso , Humanos , Terapia por Exercício , Ensaios Clínicos Controlados Aleatórios como Assunto , Caminhada , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Observing trends in research publications helps to identify the quantity and quality of research produced, as well as reveal evidence gaps. No comprehensive review of the quality and quantity of physical activity intervention trials has been conducted. OBJECTIVE: We aimed to investigate i) the volume and quality (and changes in these over time) of randomized controlled trials evaluating physical activity interventions, and ii) the association between journal ranking and trial quality. METHODS: We searched the Physiotherapy Evidence Database (PEDro) for trials investigating physical activity interventions (no restrictions for population, comparison, or language). Descriptive statistics were used to describe the volume and quality of trials. The association between journal ranking (Journal Impact Factor) and trial quality (PEDro Scale) was examined using Spearman's rho correlation. RESULTS: We identified 1779 trials, of which 40% (n = 710) were published between 2016 and 2020. The mean (SD) total PEDro score was 5.3 (1.5) points out of 10, increasing over time from 2.5 (0.7) points in 1975-1980 to 5.6 (1.4) points in 2016-2020. Quality criteria that were least reported included blinding of intervention deliverers (therapists) (n = 3, 0.2%), participants (n = 21, 1.2%), or assessors (n = 541, 31%); concealed allocation to groups (n = 526, 30%); and intention to treat analysis (n = 764, 43%). There was a small correlation between trial quality and Journal Impact Factor (0.21, p < 0.001). CONCLUSION: A large volume of trials has investigated physical activity interventions. The quality of these trial reports is suboptimal but improving over time. Journal ranking should not be used for selecting high quality trials.
Assuntos
Exercício Físico , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
Objectives: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown. Methods: 82 participants (42 DM1 adults & 40 CDM children) with muscle biopsies and measures of myotonia, motor function, and strength were combined from five observational studies. Data were normalized and correlated with an aggregate measure of alternative splicing dysregulation, [MBNL] inferred in skeletal muscle biopsies. Multiple linear regression analysis was performed to predict [MBNL] inferred using clinical outcome measures alone. Similar analyses were performed to predict 12-month physical function using baseline metrics. Results: Myotonia (measured via vHOT) was significantly correlated with RNA mis-splicing in our cross-sectional population of all DM1 individuals; CDM participants alone displayed no myotonia despite a similar range of RNA mis-splicing. Measures of motor performance and muscle strength were significantly associated with [MBNL] inferred in our cohort of all DM1 individuals and when assessing CDM children independently. Multiple linear regression analyses yielded two models capable of predicting [MBNL] inferred from select clinical outcome assessments alone in all subjects (adjusted R 2 = 0.6723) or exclusively in CDM children (adjusted R 2 = 0.5875). Interpretation: Our findings establish significant correlations between skeletal muscle performance and a composite measure of alternative splicing dysregulation, [MBNL] inferred, in DM1. The strength of these correlations and the development of the predictive models will assist in designing efficacious clinical trials for individuals with DM1, particularly CDM.
RESUMO
BACKGROUND: Post-conflict mental health studies in low-income countries have lacked pre-conflict data to evaluate changes in psychiatric morbidity resulting from political violence. AIMS: This prospective study compares mental health before and after exposure to direct political violence during the People's War in Nepal. METHOD: An adult cohort completed the Beck Depression Inventory and Beck Anxiety Inventory in 2000 prior to conflict violence in their community and in 2007 after the war. RESULTS: Of the original 316 participants, 298 (94%) participated in the post-conflict assessment. Depression increased from 30.9 to 40.6%. Anxiety increased from 26.2 to 47.7%. Post-conflict post-traumatic stress disorder (PTSD) was 14.1%. Controlling for ageing, the depression increase was not significant. The anxiety increase showed a dose-response association with conflict exposure when controlling for ageing and daily stressors. No demographic group displayed unique vulnerability or resilience to the effects of conflict exposure. CONCLUSIONS: Conflict exposure should be considered in the context of other types of psychiatric risk factors. Conflict exposure predicted increases in anxiety whereas socioeconomic factors and non-conflict stressful life events were the major predictors of depression. Research and interventions in post-conflict settings therefore should consider differential trajectories for depression v. anxiety and the importance of addressing chronic social problems ranging from poverty to gender and ethnic/caste discrimination.