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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.
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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.
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Ejercicio Físico , Humanos , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
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.
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Ejercicio Físico , Entrenamiento de Fuerza , Anciano , Humanos , Terapia por Ejercicio , Ensayos Clínicos Controlados Aleatorios como Asunto , Caminata , Persona de Mediana EdadRESUMEN
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 , Motivación , Adulto Joven , Humanos , Femenino , Adulto , Masculino , Australia , Retroalimentación , Análisis Costo-BeneficioRESUMEN
BACKGROUND: Idiopathic toe walking (ITW) is an exclusionary diagnosis. There has been limited exploration of lower limb active range of motion and strength measures in children with ITW. This researched aimed to determine any differences in lower limb muscle active range of motion and strength in children who have ITW, compared to normative data collected from children who displayed typical gait. METHODS: Children were recruited with had a diagnosis of ITW, aged between 4 and 10 years, and no recent treatment. Data collected included parent reported data such as time spent toe walking, percentage of time spent toe walking, and clinician collected data such as age, height and weight. Joint ranges of motion and strength measures were collected by an experience clinician. Active and weight bearing joint ranges of motion were evaluated with a goniometer or digital inclinometer. Lower limb muscle strength measures were evaluated with a hand-held dynamometer. Published normative data sets were used for comparison. Measures were analysed with regression analyses to determine differences between groups in different measures, considering measures known to impact range and strength. Odds ratios (OR), 95% confidence intervals (CI) and p values were reported. RESULTS: Twenty-six children with ITW participated. Reduced weight bearing ankle range of motion, when measured with the knee bent, was associated with being in the ITW group (p = 0.009), being older (p < 0.001) and weighing less (p < 0.001). Reduced ankle plantar flexion range was only associated with being in the ITW group (p = 0.015). For all lower limb strength measures, excluding hip external rotation, children who displayed greater strength, did not toe walk (p < 0.002), were older (p < 0.001) and weighed more (p < 0.014). with ITW. CONCLUSION: Children with ITW displayed reduced overall plantar and dorsiflexion at the ankle, compared to non-toe walking children. Reduced plantarflexion is children with ITW has not been described before, however reduced dorsiflexion is commonly reported. Children with ITW were weaker in many lower limb measures, even when age and weight were considered. This should lead clinicians and researchers to pay greater attention to lower limb strength measures in this population.
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Trastornos del Movimiento , Dedos del Pie , Estudios de Casos y Controles , Niño , Preescolar , Marcha/fisiología , Humanos , Extremidad Inferior , Trastornos del Movimiento/diagnóstico , Dedos del Pie/fisiología , Caminata/fisiologíaRESUMEN
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.
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Terapia por Ejercicio , Ejercicio Físico , Anciano , Cognición , Terapia por Ejercicio/métodos , Humanos , Calidad de VidaRESUMEN
OBJECTIVE: To investigate associations between eating behavior constructs (social eating, perceived competence, habit automaticity, self-determined motivation) and diet quality among young adults. DESIGN: Cross-sectional analysis. PARTICIPANTS: Young adults (nâ¯=â¯1,005; mean age, 21.7 ± 2.0 years; 85% female) enrolled in the Advice, Ideas, and Motivation for My Eating (Aim4Me) study. MAIN OUTCOME MEASURES: Four eating behavior measures collected via online surveys: Social Eating Scale, Perceived Competence in Healthy Eating Scale, Self-Report Behavioral Automaticity Index, and Regulation of Eating Behaviors scales. Diet quality was assessed using the Australian Recommended Food Score (ARFS) and percentage energy from energy-dense, nutrient-poor (EDNP) foods. ANALYSIS: Multivariate linear regression investigating associations between eating behavior measures (independent variables) and ARFS and EDNP foods (dependent variables), adjusting for sociodemographic and lifestyle confounders. RESULTS: Greater perceived competence in healthy eating and behavioral automaticity for consuming healthy foods, limiting EDNP food intake, and higher intrinsic motivation, integrated regulation, and identified regulation of eating behaviors were associated with higher ARFS and lower percentage energy EDNP foods (P < 0.001). Greater self-reported social influence on eating behaviors was associated with higher ARFS (Pâ¯=â¯0.01). Higher amotivation was associated with greater % energy from EDNP foods (P < 0.001). CONCLUSIONS AND IMPLICATIONS: Perceived competence, habit automaticity, and self-determined motivation are determinants of diet quality in young adults. These findings support the development of interventions that promote healthy eating habits by focusing on eating behavior constructs and evaluating their use in improving diet quality.
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Dieta , Conducta Alimentaria , Adulto , Australia , Estudios Transversales , Ingestión de Alimentos , Conducta Alimentaria/fisiología , Femenino , Alimentos , Humanos , Masculino , Adulto JovenRESUMEN
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.
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Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Australia , Diabetes Mellitus Tipo 2/terapia , Diabetes Gestacional/terapia , Femenino , Humanos , Embarazo , Calidad de Vida , Conducta de Reducción del RiesgoRESUMEN
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.
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Fuerza Muscular , Músculo Esquelético , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Valores de Referencia , TorqueRESUMEN
PURPOSE: Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population. METHODS: Differences between children with LFD and unaffected peers were examined with hand-held dynamometry for lower-limb muscle strength, Six-Minute Walk Test, Timed up and down stairs test, Star Excursion Balance Test, and Standing long jump. RESULTS: Thirty-nine children with LFD and 284 unaffected peers participated. Children with LFD performed at a lower level than their unaffected peers, on all measures of physical performance (mean 2.1 z-scores lower, all p < 0.01), except in long jump (p = 0.27). When comparing the performance of children with LFD to their unaffected peers across four age groups, there was a significant between-groups difference on all strength measures, and on the Six-Minute Walk distance, between children with and without LFD. These differences were smallest in young children (3-6 years) and largest in the older children (15-18 years) (all p < 0.01). Children with no lengthening surgery performed better on the Six-Minute Walk Test, covering a greater distance during the test, than those who had surgery (mean difference 83 metres, p < 0.01). There were no significant differences between children who had or had not undergone an amputation. CONCLUSIONS: Children with LFD performed at a significantly lower level than unaffected peers on all measures of physical performance other than jumping. The largest differences were in older children. This paper provides baseline functional data for future interventions in LFD. LEVEL OF EVIDENCE: Cross-sectional study.Implications for RehabilitationThis paper provides the first baseline functional data using validated objective measures on a consecutive cohort of children and adolescents with longitudinal fibular deficiency.Children with LFD performed significantly worse than their unaffected peers on all measures of physical performance other than jumping, with children falling further behind their peers as they age.Children who undergo an amputation typically have the most severe anatomical presentation and yet perform at an equivalent functional level.This paper identifies multiple modifiable impairments that represent potential opportunities for rehabilitation professionals to target with conservative treatment options to improve functional performance.
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Ectromelia , Adolescente , Amputación Quirúrgica , Niño , Preescolar , Estudios Transversales , Ectromelia/cirugía , Peroné/anomalías , Peroné/cirugía , Humanos , Rendimiento Físico FuncionalRESUMEN
BACKGROUND AND OBJECTIVES: This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT). METHODS: We conducted a cross-sectional analysis of 477 patients with CMT who were 3 to 20 years of age from the Inherited Neuropathy Consortium and 316 age- and sex-matched healthy children from the 1,000 Norms Project. BMI was categorized according to the International Obesity Task Force (IOTF) criteria, and BMI categorization was compared with healthy children. IOTF categories (adult equivalent BMI cut points) were severely underweight (BMI <17 kg/m2), underweight (BMI ≥17-<18.5 kg/m2), healthy weight (BMI ≥18.5-<25 kg/m2), overweight (BMI ≥25-<30 kg/m2), and obese (BMI ≥30 kg/m2). Scores on the 0 to 44-point CMT Pediatric Scale (CMTPedS), a well-validated measure of disability, were examined in relation to BMI. RESULTS: There was a higher proportion of children with CMT categorized as severely underweight (5.7% vs 0.3%), underweight (10.3% vs 5.1%), and obese (7.3% vs 3.8%) (p < 0.05). Fewer children with CMT were categorized as healthy weight (61.8% vs 74.4%) (p < 0.05), and the proportion of overweight (14.9% vs 16.5%) between groups was similar. CMTPedS scores (mean ± SD) for weight categories were as follows: severely underweight 27 ± 9, underweight 20 ± 8, healthy weight 17 ± 9, overweight 17 ± 9, and obese 22 ± 10. Compared to children with a healthy weight with CMT, being severely underweight was associated with being more disabled (p < 0.001), as was being obese (p = 0.015). DISCUSSION: The proportion of children with CMT who are underweight or obese is higher compared to age- and sex-matched healthy children. In children with CMT, being underweight or obese is associated with greater disability, when compared to children with CMT of healthy weight.
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Enfermedad de Charcot-Marie-Tooth/complicaciones , Obesidad/epidemiología , Delgadez/epidemiología , Adolescente , Índice de Masa Corporal , Niño , Preescolar , Estudios Transversales , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
Healthcare costs are lower for adults who consume more vegetables; however, the association between healthcare costs and fruit and vegetable varieties is unclear. Our aim was to investigate the association between (i) baseline fruit and vegetable (F&V) varieties, and (ii) changes in F&V varieties over time with 15-year healthcare costs in an Australian Longitudinal Study on Women's Health. The data for Survey 3 (n = 8833 women, aged 50-55 years) and Survey 7 (n = 6955, aged 62-67 years) of the 1946-1951 cohort were used. The F&V variety was assessed using the Fruit and Vegetable Variety (FAVVA) index calculated from the Cancer Council of Victoria's Dietary Questionnaire for Epidemiological Studies food frequency questionnaire. The baseline FAVVA and change in FAVVA were analysed as continuous predictors of Medicare claims/costs by using multiple regression analyses. Healthy weight women made, on average, 4.3 (95% confidence interval (CI) 1.7-6.8) fewer claims for every 10-point-higher FAVVA. Healthy weight women with higher fruit varieties incurred fewer charges; however, this was reversed for women overweight/obese. Across the sample, for every 10-point increase in FAVVA over time, women made 4.3 (95% CI 1.9-6.8) fewer claims and incurred $309.1 (95% CI $129.3-488.8) less in charges over 15 years. A higher F&V variety is associated with a small reduction in healthcare claims for healthy weight women only. An increasing F&V variety over time is associated with lower healthcare costs.
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Dieta/estadística & datos numéricos , Frutas , Costos de la Atención en Salud/estadística & datos numéricos , Verduras , Anciano , Australia , Estudios de Cohortes , Encuestas sobre Dietas , Femenino , Humanos , Estudios Longitudinales , Persona de Mediana EdadRESUMEN
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.
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Carnitina/administración & dosificación , Fatiga/dietoterapia , Debilidad Muscular/dietoterapia , Neurofibromatosis 1/dietoterapia , Cardiomiopatías/dietoterapia , Cardiomiopatías/metabolismo , Cardiomiopatías/patología , Carnitina/efectos adversos , Carnitina/deficiencia , Carnitina/metabolismo , Niño , Suplementos Dietéticos/efectos adversos , Fatiga/genética , Fatiga/patología , Femenino , Humanos , Hiperamonemia/dietoterapia , Hiperamonemia/metabolismo , Hiperamonemia/patología , Masculino , Fuerza Muscular/efectos de los fármacos , Debilidad Muscular/metabolismo , Debilidad Muscular/patología , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/fisiopatología , Enfermedades Musculares/dietoterapia , Enfermedades Musculares/metabolismo , Enfermedades Musculares/patología , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/metabolismo , Neurofibromatosis 1/patología , Calidad de VidaRESUMEN
OBJECTIVES: The primary aim was to determine the association between sagittal cervical mobility and the presence and extent of GJH across the lifespan. Secondary aims were to determine which features explain variability in cervical range of motion (CROM) and to establish the sagittal cervical hypermobile range in both genders across the lifespan. DESIGN: Cross-sectional observational study. Spearman's rho determined the relationship between presence and extent of GJH and CROM, age, gender and ethnicity. Multiple regression identified the factors explaining variability in CROM. The hypermobile CROM was identified as the upper 5% of flexion, extension and combined ranges for age and gender. SETTING: University laboratory in Sydney Australia. PARTICIPANTS: One thousand healthy individuals, aged 3-101 years. OUTCOME MEASURES: Cervical active range of motion was assessed using an inclinometer, extent of and presence of generalised joint hypermobility were assessed using the Beighton scoring system and age- and gender-specific criteria respectively. RESULTS: CROM correlated positively with GJH (Beighton score as a continuous or dichotomous age and gender specific variable) (rho=0.12-0.50; pâ¯<â¯0.001) and negatively with age (rho=0.54; pâ¯<â¯0.001). Age, gender and extent of GJH (Beighton as a continuous score) accounted for 19 to 51% of variability in CROM. Cut-offs for cervical hypermobility were calculated across the lifespan. CONCLUSIONS: Increased sagittal CROM was observed in individuals identified with GJH. Extension CROM decreased with age more than flexion; the greatest loss in the second and third decades. CROM screening is warranted for patients identified with GJH and for rehabilitation goal-setting.
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Inestabilidad de la Articulación , Australia/epidemiología , Vértebras Cervicales , Estudios Transversales , Femenino , Humanos , Inestabilidad de la Articulación/epidemiología , Masculino , Rango del Movimiento ArticularRESUMEN
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.
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Ejercicio Físico/fisiología , Extremidad Inferior/fisiopatología , Calambre Muscular/fisiopatología , Músculo Esquelético/fisiopatología , Postura/fisiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calambre Muscular/etiología , Factores de Riesgo , Adulto JovenRESUMEN
AIM: The primary aim of this study was to determine the association between generalized joint hypermobility (GJH), knee-specific hypermobility (KSH) and self-reported knee health in an Australian population. Secondary aims included elucidating ethnic/gender differences in GJH/KSH prevalence and knee health, and identifying KSH using a novel knee extension range of motion cut-off method. METHOD: Knee extension range, Beighton score, and 5 domains of the Knee Injury and Osteoarthritis Outcome Score (KOOS) were collected from adults aged 18-101 years self-identifying as healthy, and were grouped by ethnicity and gender. Two established Beighton score criteria and 1 novel knee extension range cut-off method were used to determine GJH and KSH respectively. Point-biserial correlation tested the associations between GJH/KSH and KOOS. Differences in GJH/KSH prevalence and knee health between ethnic/gender groups were determined with the Chi-squared test. RESULTS: Of 732 participants (50% male), 80.3% were Caucasian. No correlations were found between GJH and KOOS while a very weak correlation was found between KSH and 1 KOOS domain (r > -.30; P = .04). Prevalence of GJH was higher in non-Caucasians (17.4% vs 5.6%, P < .001) and females (4.4% vs 1.1%, P = .007). Prevalence of KSH between ethnic and gender groups was not significantly different (P = .50 and P = .69 respectively). Non-Caucasians scored higher (better) in all KOOS domains than Caucasians (all P < .05). CONCLUSION: Those who met the age- and gender-specific criteria for GJH/KSH did not report worse knee health than their non-hypermobile counterparts. Clinicians can assure individuals who exhibit GJH/KSH that these are not associated with lower knee health and function.
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Inestabilidad de la Articulación/fisiopatología , Articulación de la Rodilla/fisiopatología , Rango del Movimiento Articular/fisiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Australia/epidemiología , Estudios Transversales , Femenino , Humanos , Inestabilidad de la Articulación/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Adulto JovenRESUMEN
BACKGROUND: The relationship between diet quality and health care costs is unclear. OBJECTIVE: The aim of this study was to investigate the relationship between baseline diet quality and change in diet quality over time, with 15-year cumulative health care claims/costs. DESIGN: Data from a longitudinal cohort study were analyzed. PARTICIPANTS/SETTING: Data for survey 3 (2001) (n = 7,868) and survey 7 (2013) (n = 6,349 both time points) from the 1946-1951 cohort of the Australian Longitudinal Study on Women's Health were analyzed. MAIN OUTCOME MEASURES: Diet quality was assessed using the Australian Recommended Food Score (ARFS). Fifteen-year cumulative Medicare Benefits Schedule (Australia's universal health care coverage) data were reported by baseline ARFS quintile and category of diet quality change ("diet quality worsened" [ARFS change ≤ -4 points], "remained stable" [-3 ≤ change in ARFS ≤3 points], or "improved" [ARFS change ≥4 points]). STATISTICAL ANALYSES: Linear regression analyses were conducted adjusting for area of residence, socioeconomic status, lifestyle factors, and private health insurance status. RESULTS: Consuming a greater variety of vegetables at baseline but fewer fruit and dairy products was associated with lower health care costs. For every 1-point increment in the ARFS vegetable subscale, women made 3.3 (95% CI, 1.6-5.0) fewer claims and incurred AU$227 (95% CI, AU$104-350 [US$158; 95% CI, US$72-243]) less in costs. Women whose diet quality worsened over time made more claims (median, 251 claims; quintile 1, quintile 3 [Q1; Q3], 168; 368 claims) and incurred higher costs (AU$15,519; Q1; Q3, AU$9,226; AU$24,847 [US$10,793; Q1; Q3, US$6,417; US$17,281]) compared with those whose diet quality remained stable (median, 236 claims [Q1; Q3, 158; 346 claims], AU$14,515; Q1; Q3, AU$8,539; AU$23,378 [US$10,095; Q1; Q3, US$5,939; US$16,259]). CONCLUSIONS: Greater vegetable variety was associated with fewer health care claims and costs; however, this trend was not consistent across other subscales. Worsening diet quality over 12 years was linked with higher health care claims and costs.
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Dieta/economía , Dieta/normas , Dieta/tendencias , Costos de la Atención en Salud/tendencias , Beneficios del Seguro/economía , Programas Nacionales de Salud/economía , Anciano , Australia , Estudios de Cohortes , Femenino , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Verduras , Salud de la MujerRESUMEN
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.