Walk Test

Pilates exercise is often undertaken by people with Multiple Sclerosis (MS) with balance and mobility difficulties. Primary aim was to compare12 weeks Pilates with Relaxation upon balance and mobility. Secondary aims were to compare (i) Standardised Exercises (SE) with Relaxation and (ii) Pilates with SE. Multi-centre, assessor-blinded, randomised controlled trial. Participants with Expanded Disability Status Scale (EDSS) 4.0-6.5 were randomly allocated to 12 weeks of Pilates, SE or Relaxation. Assessments were undertaken at baseline, weeks 12 and 16 (Primary outcome; 10 metre timed walk (10mtw)). 100 participants (mean age 54 years, 74% female) were randomised. Six relapsed (withdrawn), leaving 94 for intention to treat analysis. There was no significant difference between Pilates and Relaxation (p>0.05) in mean 10mtw. At 12 weeks there was a mean reduction of 4.2 seconds for SE compared with Relaxation (95% confidence interval (Relax minus SE): 0.0 to 8.4) and 3.7 seconds compa...

Aging is progressive, and its effects on the respiratory system include changes in the composition of the connective tissues of the lung that influence thoracic and lung compliance. The Powerbreathe® K5 is a device used for inspiratory muscle training with resistance adapted to the level of the inspiratory muscles to be trained. The Pilates method promotes muscle rebalancing exercises that emphasize the powerhouse. The aim of this study was to evaluate the influence of inspiratory muscle training combined with the Pilates method on lung function in elderly women. The participants were aged sixty years or older, were active women with no recent fractures, and were not gait device users. They were randomly divided into a Pilates with inspiratory training group (n=11), a Pilates group (n=11) and a control group (n=9). Spirometry, manovacuometry, a six-minute walk test, an abdominal curl-up test, and pulmonary variables were assessed before and after twenty intervention sessions. The in...

Neurocognitive impairment has been described in COPD patients, but little is known about its relationship with physical functioning and health-related quality of life (HRQL) in this chronically ill patient group. 301 stable COPD patients completed the Trail Making Test (TMT-A: psychomotor speed and TMT-B: executive control); 198 patients completed the Memory Impairment Screen (MIS). Standardization of TMT-A and TMT-B scores to a normative population yielded classifications of normal, borderline, or impaired cognitive status. Using multivariable regression, we examined the relationship between the TMT-A, TMT-B, and MIS with physical functioning (physical activity, 6-min walk test, and grip strength) and health-related quality of life (HRQL) measured with the Chronic Respiratory Questionnaire and the SF-36. Nearly 30% of patients had either borderline or impaired cognition on the TMT-A or TMT-B. Adjusted models indicated that those with either borderline or impaired cognitive function...

Brazil is a country with great climatic, socioeconomic, and cultural differences that does not yet have a reference value for the 6-min walk test (6MWT) in healthy children. To avoid misinterpretation, the use of equations to predict the maximum walking distance should be established in each country. We sought to establish reference values and to develop an equation to predict the 6-min walk distance (6MWT) for healthy children in Brazil. This is a cross-sectional multi-center study that included 1,496 healthy children, aged 7 to 12 y, assessed across 11 research sites in all regions of Brazil, and recruited from public and private schools in their respective regions. Each child was assessed for weight and height. Walking distance was our main outcome. An open-source software environment for statistical computing was used for statistical analysis. We observed a higher average distance walked by boys (531.1 m) than by girls (506.2 m), with a difference of 24.9 m (P < .001). We est...

Obesity is increasingly associated with COPD, but little is known about the prevalence of ectopic fat accumulation in COPD and whether this can possibly be associated with poor clinical outcomes and comorbidities. The Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE) substudy tested the hypothesis that COPD is associated with increased ectopic fat accumulation and that this would be associated with COPD-related outcomes and comorbidities. Computed tomography (CT) images of the thorax obtained in ECLIPSE were used to quantify ectopic fat accumulation at L2-L3 (eg, cross-sectional area [CSA] of visceral adipose tissue [VAT] and muscle tissue [MT] attenuation, a reflection of muscle fat infiltration) and CSA of MT. A dose-response relationship between CSA of VAT, MT attenuation and CSA of MT and COPD-related outcomes (6-minute walking distance [6MWD], exacerbation rate, quality of life, and forced expiratory volume in 1 second [FEV1] decline) was ad...

Transthyretin amyloid cardiomyopathy is caused by the deposition of transthyretin amyloid fibrils in the myocardium. The deposition occurs when wild-type or variant transthyretin becomes unstable and misfolds. Tafamidis binds to transthyretin, preventing tetramer dissociation and amyloidogenesis. In a multicenter, international, double-blind, placebo-controlled, phase 3 trial, we randomly assigned 441 patients with transthyretin amyloid cardiomyopathy in a 2:1:2 ratio to receive 80 mg of tafamidis, 20 mg of tafamidis, or placebo for 30 months. In the primary analysis, we hierarchically assessed all-cause mortality, followed by frequency of cardiovascular-related hospitalizations according to the Finkelstein-Schoenfeld method. Key secondary end points were the change from baseline to month 30 for the 6-minute walk test and the score on the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS), in which higher scores indicate better health status. In the primary analysis,...

To investigate feasibility of multiple sclerosis (MS) exercise guidelines for inactive people with MS (PwMS) and to examine preliminary efficacy for walking. To investigate effect of augmenting that intervention with education based on social cognitive theory (SCT). Pilot multicentre, double-blind, randomised, parallel, controlled trial. Community-delivered programme. Sixty-five physically inactive PwMS walked independently, scored 0-3 on the Patient Determined Disease Steps Scale, had no MS relapse or change in MS medication in 12 weeks. 10-week exercise plus SCT education (SCT) compared with exercise plus attention control education (CON). Six-Minute Walk Test (6MWT), Timed Up and Go (TUG) test and Multiple Sclerosis Walking Scale-12 (MSWS-12). 174 expressed interest, 92 were eligible and 65 enrolled (SCT, n=32; CON, n=33). The intervention was feasible and delivered as intended. 68% of SCT group and 50% of control group met the exercise guidelines after intervention. Using linear...

The incremental shuttle walk test was initially developed to be carried out in a hallway (ISWT-H) but has been modified to be performed on a treadmill (ISWT-T). However, it is still unknown whether performance on ISWT-H and ISWT-T are similar in patients with bronchiectasis. In this study, we compared the performance, physiological responses, and perception of effort between the ISWT-T with a handrail and ISWT-H for subjects with bronchiectasis. We also sought to estimate and compare the prescription for training intensity with both tests. This was a cross-sectional study in which 24 subjects with bronchiectasis were evaluated on 2 different days (24 h apart). Distance walked (m) was compared between the ISWT-H and ISWT-T. A training session was held on a treadmill at 75% of the speed obtained from both tests. The walking distance, oxygen uptake (V̇O2 ), carbon dioxide production (V̇CO2 ), heart rate, and ventilation (V̇E) were measured. There was a difference in the walking distanc...

Acute decompensated heart failure (ADHF) is a leading cause of hospitalization in older persons in the United States. Reduced physical function and frailty are major determinants of adverse outcomes in older patients with hospitalized ADHF. However, these are not addressed by current heart failure (HF) management strategies and there has been little study of exercise training in older, frail HF patients with recent ADHF. Targeting physical frailty with a multi-domain structured physical rehabilitation intervention will improve physical function and reduce adverse outcomes among older patients experiencing a HF hospitalization. REHAB-HF is a multi-center clinical trial in which 360 patients ≥60 years hospitalized with ADHF will be randomized either to a novel 12-week multi-domain physical rehabilitation intervention or to attention control. The goal of the intervention is to improve balance, mobility, strength and endurance utilizing reproducible, targeted exercises administered by a...

In a previous study, 6-minute walk distance (6MWD) improvement with sildenafil was not dose dependent at the 3 doses tested (20, 40, and 80 mg 3 times daily [TID]). This study assessed whether lower doses were less effective than the approved 20-mg TID dosage. Treatment-naive patients with pulmonary arterial hypertension were randomized to 12 weeks of double-blind sildenafil 1, 5, or 20 mg TID; 12 weeks of open-label sildenafil 20 mg TID followed. Changes from baseline in 6-minute walk distance (6MWD) for sildenafil 1 or 5 mg versus 20 mg TID were compared using a Williams test. Hemodynamics, functional class, and biomarkers were assessed. The study was prematurely terminated for non-safety reasons, with 129 of 219 planned patients treated. At week 12, 6MWD change from baseline was significantly greater for sildenafil 20 versus 1 mg (P = 0.011) but not versus 5 mg. At week 24, 6MWD increases from baseline were larger in those initially randomized to 20 versus 5 or 1 mg (74 vs 50 and...

To evaluate the correlation of the total distance walked during the six-minute walk test (6MWT) with left ventricular function and quality of life in patients with Chagas Disease (ChD) complicated by heart failure. This is a cross-sectional study of adult patients with ChD and heart failure diagnosed based on Framingham criteria. 6MWT was performed following international guidelines. New York Heart Association functional class, brain natriuretic peptide (BNP) serum levels, echocardiographic parameters and quality of life (SF-36 and MLHFQ questionnaires) were determined and their correlation with the distance covered at the 6MWT was tested. Forty adult patients (19 male; 60 ± 12 years old) with ChD and heart failure were included in this study. The mean left ventricular ejection fraction was 35 ± 12%. Only two patients (5%) ceased walking before 6 min had elapsed. There were no cardiac events during the test. The average distance covered was 337 ± 105 metres. The distance covered pre...

Chemokine (C-C motif) ligand 18 (CCL-18) has been shown to be elevated in chronic obstructive pulmonary disease (COPD) patients. This study primarily aimed to evaluate whether the serum CCL-18 level differentiates the frequent exacerbator COPD phenotype from infrequent exacerbators. The secondary aim was to investigate whether serum CCL-18 level is a risk factor for exacerbations requiring hospitalization. Clinically stable COPD patients and participants with smoking history but normal spirometry (NSp) were recruited for the study. Modified Medical Research Council Dyspnea Scale, COPD Assessment Test, spirometry, and 6-min walking test were performed. Serum CCL-18 levels were measured with a commercial ELISA Kit. Sixty COPD patients and 20 NSp patients were recruited. Serum CCL-18 levels were higher in COPD patients than those in NSp patients (169 vs 94 ng/mL, P<0.0001). CCL-18 level was significantly correlated with the number of exacerbations (r=0.30, P=0.026), although a diffe...

The effect of exercise on specific impairments and activity limitations in patients with hip osteoarthritis (OA) is limited. To evaluate long-term results of exercise therapy and patient education on range of motion (ROM), muscle strength, physical fitness, walking capacity and pain during walking in patients with hip OA. Randomized clinical trial SETTING: University Hospital PATIENTS: One hundred and nine patients with clinical and radiographic hip OA, included at a university hospital, were randomly allocated to exercise therapy and patient education (exercise group) or patient education only (control group). All patients participated in a patient education program consisting of three group meetings led by two physical therapists. Two other physical therapists were responsible for providing the exercise therapy program, consisting of 2-3 weekly sessions of strengthening, functional and stretching exercises over 12-weeks. Both interventions were conducted at a sports medicine clini...

Chemokine (C-C motif) ligand 18 (CCL-18) has been shown to be elevated in chronic obstructive pulmonary disease (COPD) patients. This study primarily aimed to evaluate whether the serum CCL-18 level differentiates the frequent exacerbator COPD phenotype from infrequent exacerbators. The secondary aim was to investigate whether serum CCL-18 level is a risk factor for exacerbations requiring hospitalization. Clinically stable COPD patients and participants with smoking history but normal spirometry (NSp) were recruited for the study. Modified Medical Research Council Dyspnea Scale, COPD Assessment Test, spirometry, and 6-min walking test were performed. Serum CCL-18 levels were measured with a commercial ELISA Kit. Sixty COPD patients and 20 NSp patients were recruited. Serum CCL-18 levels were higher in COPD patients than those in NSp patients (169 vs 94 ng/mL, P<0.0001). CCL-18 level was significantly correlated with the number of exacerbations (r=0.30, P=0.026), although a diffe...

We performed a retrospective chart review of consecutive patients discharged from an inpatient amputee rehabilitation program over a 2 yr period (January 2010-December 2011). Our objective was to determine barriers to the completion of a standardized maximum walk test (MWT) at discharge. Over the study period, there were 190 discharges. The sample had a mean age of 63.5 yr (standard deviation [SD] +/- 14.2 yr), was 71.6% male, and had a majority of transtibial amputation (67%). The average length of inpatient stay was 28.1 d (SD +/- 13.2 d). MWT including distance and time was completed in 149 (78%) of the discharges; the main factors limiting patient performance on this measure were cardiorespiratory fatigue (53%), lower-limb pain (24%), back pain (12%), and skin problems (6%). Among those patients who completed the MWT, in 31% no limiting factor was identified. Forty-one discharge MWTs were not completed as a result of nonambulatory status (34%), acute illness (17%), limb pain (7%...

Cardiovascular autonomic dysfunction reflex of the pathophysiology of diabetes mellitus (DM) favors an increase in morbidity and mortality related to cardiovascular events, and for this reason has been one of the most studied clinical entities. An experimental study of a randomized clinical trial type was therefore proposed to analyze the hemodynamic and glycemic response after the practice of a rehabilitation program in patients with type 2 diabetes mellitus (T2DM). In this clinical trial the patients will initially be submitted to an evaluation protocol that consists of assessing blood pressure, heart rate, Borg scale, respiratory rate, oxygen saturation, distance traveled through the 6-minute walk test, quality of life questionnaire, Pittsburgh sleep quality questionnaire, and still glycated hemoglobin and heart rate variability through the cardiofrequency meter. After careful evaluation of the patients, they will be submitted to a metabolic rehabilitation program composed of aer...

Identification of non-traditional risk factors is an important component of cardiac rehabilitation (CR). However, the prevalence and predictors of sleep-disordered breathing (SDB) and its influence on exercise performance in patients attending CR remain poorly described. Patients enrolled in a national CR centre were eligible for a comprehensive SDB screening program. Screening questionnaires for SDB, overnight sleep study, and the 6-minute walk test (6MWT) were conducted. We recruited 332 patients (mean age 62±10 years, 62.4% male) attending CR for primary (29.2%) or secondary (70.8%) prevention, of which 209 successfully completed the overnight sleep study. Sleep-disordered breathing group patients (n=68, 32.5%) were older and had a higher body mass index (BMI) and neck and waist circumferences than the non-SDB group patients. After adjusting for neck and waist circumference, age (OR=1.06; 95% CI 1.02-1.10; p=0.001) and BMI (OR=1.19; 95% CI 1.10-1.30; p<0.001) remained independent predictors of SDB. A high risk of SDB based on the Berlin Questionnaire (43.4% versus 35.5%, p=0.277) or STOP-BANG questionnaire (63.2% versus 53.2%, p=0.170) and excessive daytime sleepiness (Epworth Sleepiness Scale >10, 23.9% versus 17.7%, p=0.297) were similar between the groups. The 6MWT scores were significantly lower in the SDB than non-SDB group (mean difference -32 m; 95% CI -57-7; p=0.013). The relationship was no longer significant after adjusting for age, sex, and waist circumference. Sleep-disordered breathing is prevalent in CR patients and is independently predicted by ageing and obesity. The association between SDB and poorer exercise performance may be explained by age, sex, and waist circumference.

Acquired brain injury (ABI) can result in impairments in motor function, language, cognition, and sensory processing, and in emotional disturbances, which can severely reduce a survivor's quality of life. Music interventions have been used in rehabilitation to stimulate brain functions involved in movement, cognition, speech, emotions, and sensory perceptions. An update of the systematic review published in 2010 was needed to gauge the efficacy of music interventions in rehabilitation for people with ABI. To assess the effects of music interventions for functional outcomes in people with ABI. We expanded the criteria of our existing review to: 1) examine the efficacy of music interventions in addressing recovery in people with ABI including gait, upper extremity function, communication, mood and emotions, cognitive functioning, social skills, pain, behavioural outcomes, activities of daily living, and adverse events; 2) compare the efficacy of music interventions and standard care with a) standard care alone, b) standard care and placebo treatments, or c) standard care and other therapies; 3) compare the efficacy of different types of music interventions (music therapy delivered by trained music therapists versus music interventions delivered by other professionals). We searched the Cochrane Stroke Group Trials Register (January 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) (2015, Issue 6), MEDLINE (1946 to June 2015), Embase (1980 to June 2015), CINAHL (1982 to June 2015), PsycINFO (1806 to June 2015), LILACS (1982 to January 2016), and AMED (1985 to June 2015). We handsearched music therapy journals and conference proceedings, searched dissertation and specialist music databases, trials and research registers, reference lists, and contacted relevant experts and music therapy associations to identify unpublished research. We imposed no language restriction. We performed the original search in 2009. We included all randomised controlled trials and controlled clinical trials that compared music interventions and standard care with standard care alone or combined with other therapies. We examined studies that included people older than 16 years of age who had ABI of a non-degenerative nature and were participating in treatment programmes offered in hospital, outpatient, or community settings. We included studies in any language, published and unpublished. Two review authors independently extracted data and assessed the risk of bias of the included studies. We contacted trial researchers to obtain missing data or for additional information when necessary. Where possible, we presented results for continuous outcomes in meta-analyses using mean differences (MDs) and standardised mean differences (SMDs). We used post-test scores. In cases of significant baseline difference, we used change scores. We conducted a sensitivity analysis to assess the impact of the randomisation method. We identified 22 new studies for this update. The evidence for this update is based on 29 trials involving 775 participants. A music intervention known as rhythmic auditory stimulation may be beneficial for improving the following gait parameters after stroke. We found a reported increase in gait velocity of 11.34 metres per minute (95% confidence interval (CI) 8.40 to 14.28; 9 trials; 268 participants; P < 0.00001; moderate-quality evidence). Stride length of the affected side may also benefit, with a reported average of 0.12 metres more (95% CI 0.04 to 0.20; 5 trials; 129 participants; P = 0.003; moderate-quality evidence). We found a reported average improvement for general gait of 7.67 units on the Dynamic Gait Index (95% CI 5.67 to 9.67; 2 trials; 48 participants; P < 0.00001). There may also be an improvement in gait cadence, with a reported average increase of 10.77 steps per minute (95% CI 4.36 to 17.18; 7 trials; 223 participants; P = 0.001; low-quality evidence).Music interventions may be beneficial for improving the timing of upper extremity function after stroke as scored by a reduction of 1.08 seconds on the Wolf Motor Function Test (95% CI -1.69 to -0.47; 2 trials; 122 participants; very low-quality evidence).Music interventions may be beneficial for communication outcomes in people with aphasia following stroke. Overall, communication improved by 0.75 standard deviations in the intervention group, a moderate effect (95% CI 0.11 to 1.39; 3 trials; 67 participants; P = 0.02; very low-quality evidence). Naming was reported as improving by 9.79 units on the Aachen Aphasia Test (95% CI 1.37 to 18.21; 2 trials; 35 participants; P = 0.02). Music interventions may have a beneficial effect on speech repetition, reported as an average increase of 8.90 score on the Aachen Aphasia Test (95% CI 3.25 to 14.55; 2 trials; 35 participants; P…

BACKGROUND Chagas heart disease (CHD) patients may have a reduced functional capacity (FC). Field tests, as the Incremental Shuttle Walk Test (ISWT), can estimate peak oxygen uptake (VO2 peak). However, the relationship between the ISWT and the Cardiopulmonary Exercise Testing (CPET), the gold standard in the assessment of FC, is not well established in CHD patients. AIM This study aimed to evaluate the FC of CHD patients by ISWT with direct measurement of VO2 peak and to compare these findings with data obtained from CPET. A secondary goal was to derive a regression equation to calculate the VO2 peak by ISWT. DESIGN Cross-sectional and correlative study. SETTING Research laboratory setting. POPULATION Thirty-two CHD patients (58.8±9.0 years, 81.3% women) participated in this study. METHODS Eligible patients underwent clinical evaluation, echocardiography, CPET by ramp protocol and ISWT according to current guidelines. RESULTS The distance walked in ISWT showed a positive correlatio...

Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters]×albumin level in grams per liter; lower values indicated worse nutritional status). A total of 225...

Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection of an isoform of follistatin (FS344) by AAV1. For this clinical trial, rAAV1.CMV.huFS344, 6 × 10(11) vg/kg, was delivered to the quadriceps muscles of both legs of six sporadic inclusion body myositis subjects. The primary outcome for this trial was distance traveled for the 6-min walk test. The protocol included an exercise regimen for each participant. Performance, annualized to a median 1-year change, improved +56.0 m/year for treated subjects compared to a decline of -25.8 m/year (p = 0.01) in untreated subjects (n = 8), matched for age, gen...

Heart rate variability (HRV) analysis is a useful method to assess abnormal functioning in the autonomic nervous system and to predict cardiac events in patients with heart failure (HF). HRV measurements with heart rate monitors have been validated with an electrocardiograph in healthy subjects but not in patients with HF. We explored the reproducibility of HRV in two consecutive six-minute walk tests (6MW), 60-minute apart, using a heart rate monitor (PolarS810i) and a portable electrocardiograph (called Holter) in 50 HF patients (mean age 59 years, NYHA II, left ventricular ejection fraction ~35%). The reproducibility for each device was analysed using a paired t-test or the Wilcoxon signed-rank test. Additionally, we assessed the agreement between the two devices based on the HRV indices at rest, during the 6MW and during recovery using concordance correlation coefficients (CCC), 95% confidence intervals and Bland-Altman plots. The test-retest for the HRV analyses was reproducibl...

The St George's Respiratory Questionnaire (SGRQ) has been used to measure health-related quality of life (HRQoL) in patients with idiopathic pulmonary fibrosis (IPF).This analysis evaluated the psychometric properties of the SGRQ using data from 428 patients with IPF who participated in a 12-month, randomised, placebo-controlled phase II trial of nintedanib.Internal consistency (Cronbach's α) was 0.91 for SGRQ total and >0.70 for domain scores. Test-retest reliability (intraclass correlation coefficients) was 0.77, 0.77, 0.69 and 0.66 for SGRQ total, activity, impact and symptoms scores, respectively. Construct validity of SGRQ total and domain scores was supported by weak to moderate cross-sectional correlations with the Medical Research Council dyspnoea scale (0.32-0.55), 6-min walk test distance (-0.25- -0.34), percentage predicted forced vital capacity (-0.11- -0.15) and measures of gas exchange (-0.26-0.03). There was some evidence that the SGRQ total score was sensi...

Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters]×albumin level in grams per liter; lower values indicated worse nutritional status). A total of 225...

Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of ...

Transthyretin amyloid cardiomyopathy is caused by the deposition of transthyretin amyloid fibrils in the myocardium. The deposition occurs when wild-type or variant transthyretin becomes unstable and misfolds. Tafamidis binds to transthyretin, preventing tetramer dissociation and amyloidogenesis. In a multicenter, international, double-blind, placebo-controlled, phase 3 trial, we randomly assigned 441 patients with transthyretin amyloid cardiomyopathy in a 2:1:2 ratio to receive 80 mg of tafamidis, 20 mg of tafamidis, or placebo for 30 months. In the primary analysis, we hierarchically assessed all-cause mortality, followed by frequency of cardiovascular-related hospitalizations according to the Finkelstein-Schoenfeld method. Key secondary end points were the change from baseline to month 30 for the 6-minute walk test and the score on the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS), in which higher scores indicate better health status. In the primary analysis,...

Peak aerobic capacity (VO2 peak) is an important outcome measure in cystic fibrosis (CF), but measurement is not widely available and can be influenced by patient motivation, pain and fatigue. Alternative markers of disease severity would be helpful. Neural respiratory drive, measured using parasternal intercostal muscle electromyography (EMGpara), reflects the load to capacity balance of the respiratory system and provides a composite measure of pulmonary function impairment in CF. The aim of the study was to investigate the relationship between exercise capacity, EMGpara and established measures of pulmonary function in clinically stable adult CF patients. Twenty CF patients (12 males, median (range) age: 22.3 (17.0-43.1) years) performed the 10-m incremental shuttle walk test (ISWT) maximally with contemporaneous measures of aerobic metabolism. EMGpara was recorded from second intercostal space at rest and normalized using peak electromyogram activity obtained during maximum resp...

An approach that simultaneously engages both the upper and lower extremities, hand-arm bimanual intensive therapy including lower extremity (HABIT-ILE), has recently demonstrated improvements in upper and lower extremities in children with unilateral cerebral palsy (CP). It is not known whether children with bilateral CP would benefit from this approach. The aim of this study was to examine the efficacy of HABIT-ILE in children with bilateral CP. A quasi-randomized trial design was used, whereby 20 participants (age 6-15y, Gross Motor Function Classification System levels II-IV, Manual Ability Classification System levels I-III) were assigned to a treatment (HABIT-ILE) or a comparison group in the order in which they were enrolled. Children in the HABIT-ILE group were assessed before and after 84 hours of intervention over 13 days, as well as at 3 months' follow-up. Children in the comparison group were assessed at the same time points. Children in both groups were assessed usin...

Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters]×albumin level in grams per liter; lower values indicated worse nutritional status). A total of 225...

Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters]×albumin level in grams per liter; lower values indicated worse nutritional status). A total of 225...