Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.

BACKGROUND AND AIMS: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients. METHODS: Fifty-three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study. The recruitment of these cases took place from January 1, 2018, to December 31, 2020. The diagnosis was based on clinical and electrophysiological data. A molecular assessment was made using target-gene panel or whole-exome sequencing. Subsequently, segregation analysis was performed on available family members, and all candidate variants found were confirmed through Sanger. RESULTS: A molecular diagnosis was reached in 68% of the patients (n = 36/53), considering only pathogenic and probably pathogenic variants. Variants in MFN2 (n = 15) and GJB1 (n = 3) accounted for half of the genetically confirmed patients (50%; n = 18/36). The other 18 genetically diagnosed patients had variants in several less common genes. INTERPRETATION: Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic.

Quality of life assessment instruments in children and adolescents with neuromuscular diseases: a systematic scoping review.

OBJECTIVE: (1) To identify instruments used to assess quality of life (QoL) in children and adolescents with neuromuscular diseases; (2) To identify the psychometric properties contained in these instruments. METHODS: This is a scoping review in which the electronic databases Embase, Scielo, Scopus, Pubmed and Lilacs were used as well as grey literature. The following terms were used in the search for articles published in the last 10 years: children, adolescents, neuromuscular disease, and quality of life. RESULTS: In total, 15 articles were included and evaluated, indicating 7 instruments used to assess QoL (PedsQL™ Inventory 3.0 Neuromuscular Module, the PedsQL™ 4.0, the PedsQL DMD Module, the PedsQL ™ MFS, the SOLE, the KIDSCREEN and the LSI-A). The number of items ranged from 17 to 45. In addition, 6 instruments showed psychometric properties, but only 2 showed good and high quality, either in internal reliability or reproducibility. CONCLUSION: Our results were able to map the main QoL assessment instruments of children and adolescents with neuromuscular disease and the most cited instrument was the PedsQL™ Inventory 3.0 Neuromuscular Module. Larger studies that assess psychometric properties and that are validated for most diseases are needed.

Can neuromuscular differences manifest by early adolescence in males between predominantly endurance and strength sports?

INTRODUCTION: Although neuromuscular function varies significantly between strength and endurance-trained adult athletes, it has yet to be ascertained whether such differences manifest by early adolescence. The aim of the present study was to compare knee extensor neuromuscular characteristics between adolescent athletes who are representative of strength (wrestling) or endurance (triathlon) sports. METHODS: Twenty-three triathletes (TRI), 12 wrestlers (WRE) and 12 untrained (CON) male adolescents aged 13 to 15 years participated in the present study. Maximal voluntary isometric contraction (MVIC) knee extensor (KE) torque was measured, and 100-Hz magnetic doublets were delivered to the femoral nerve during and after KE MVIC to quantify the voluntary activation level (%VA). The doublet peak torque (T100Hz) and normalized vastus lateralis (VL) and rectus femoris (RF) EMG (EMG/M-wave) activities were quantified. VL and RF muscle architecture was also assessed at rest using ultrasound. RESULTS: Absolute and relative (to body mass) KE MVIC torques were significantly higher in WRE than TRI and CON (p < 0.05), but comparable between TRI and CON. No significant differences were observed between groups for %VA, T100Hz or either VL or RF muscle thickness. However, VL EMG/M-wave was higher, RF fascicle length longer, and pennation angle smaller in WRE than TRI and CON (all p < 0.05). CONCLUSION: The wrestlers were stronger than triathletes and controls, potentially as a result of muscle architectural differences and a greater neural activation. Neuromuscular differences can already be detected by early adolescence in males between predominantly endurance and strength sports, which may result from selection bias and/or physical training.

Generation of percentile curves for strength and functional abilities for boys with Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Considering the heterogeneity of the clinical manifestations of Duchenne muscular dystrophy (DMD), it is important to describe their various clinical profiles. Thus, in this study we aimed to develop percentile curves for DMD using a battery of measures to define the patterns of functional abilities, timed tests, muscle strength, and range of motion (ROM). METHODS: This retrospective data analysis was based on the records of patients with DMD using the Motor Function Measure (MFM) scale, isometric muscle strength (IS), dorsiflexion ROM, 10-meter walk test (10 MWT), and 6-minute walk test (6 MWT). Percentile curves (25th, 50th, and 75th percentiles) with MFM, IS, ROM, 10 MWT, and 6 MWT on the y axis and patient age on the x axis were constructed using the generalized additive model for location, scale, and shape, with Box-Cox power exponential distribution. RESULTS: There were records of 329 assessments of patients between 4 and 18 years of age. The MFM percentiles showed a gradual reduction in all dimensions. Muscle strength and ROM percentiles showed that the knee extensors were the most affected from 4 years of age, and dorsiflexion ROM negative values were noted from the age of 8 years. The 10 MWT showed a gradual increase in performance time with age. For the 6 MWT, the distance curve remained stable until 8 years, with a subsequent progressive decline. DISCUSSION: In this study we generated percentile curves that can help health professionals and caregivers follow the trajectory of disease progression in DMD patients.

Alternative instrument for the evaluation of handgrip strength in Duchenne muscular dystrophy.

BACKGROUND: The commonly used dynamometers can be ineffective in evaluating handgrip in patients with Duchenne muscular dystrophy (DMD), especially children with generalized muscle weakness. The aim of this study was to analyze whether the modified sphygmomanometer is an effective instrument for handgrip strength evaluation in patients with DMD, during different stages of the disease. METHOD: The handgrip strength of 33 patients was evaluated by the Jamar dynamometer and the modified sphygmomanometer. Motor function was evaluated by the Motor Function Measurement (MFM) scale. Four evaluations, with a six-month interval between each, were performed: Evaluation 1 (N = 33), Evaluation 2 (N = 24), Evaluation 3 (N = 15), and Evaluation 4 (N = 8). A linear regression model with mixed effects was used for the longitudinal data and descriptive analysis of strength for all four evaluations. RESULT: The first evaluation data presented very high correlations between the dynamometer and the modified sphygmomanometer (r = 0.977; p < 0.001). The longitudinal analysis showed a significant difference between Evaluation 1 and the other handgrip strength evaluations obtained using the dynamometer (p < 0.05) but not the modified sphygmomanometer (p > 0.05). Null values were obtained only when using the dynamometer device. CONCLUSION: The modified sphygmomanometer seems to be more suitable than the dynamometer for measuring handgrip strength in all stages of DMD.

Instruments to assess upper-limb function in children and adolescents with neuromuscular diseases: a systematic review.

AIM: To synthesize clinical and scientific evidence regarding the instruments available to assess upper-limb function in paediatric patients with neuromuscular disease (NMD). METHOD: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Two independent reviewers searched the PubMed/MEDLINE, LILACS, Embase, and Scopus databases. Inclusion criteria were cross-sectional or longitudinal studies or randomized controlled trials that used scales or questionnaires to assess upper-limb function in paediatric patients with NMDs. The COSMIN Risk of Bias checklist and criteria for good measurement properties were applied to assess the methodological quality of the instruments. RESULTS: In total, 34 articles and 12 instruments were included. The Brooke Upper Extremity (n=16) and Performance of Upper Limb (PUL) (n=12) instruments were the most used tools. The PUL and Duchenne muscular dystrophy (DMD) Upper Limb patient-reported outcome measures (PROMs) tested more measurement properties and provided higher methodological quality scores for patients with DMD. Likewise, the Revised Upper Limb Module (RULM) was the most suitable instrument for patients with spinal muscular atrophy. No instrument has been devised to assess upper-limb function in patients with Charcot-Marie-Tooth disease and no other disease-specific instruments were found. INTERPRETATION: The PUL, DMD Upper Limb PROM, and RULM are the most suitable instruments to assess upper-limb function in the two most prevalent paediatric NMDs. The identified gaps and methodological flaws of the available instruments indicate a need to develop high-quality instruments to assess other types of paediatric NMDs. What this paper adds The most suitable observer-rater instrument to assess upper-limb function in Duchenne muscular dystrophy (DMD) is the Performance of Upper Limb. The most suitable observer-rater instrument to assess upper-limb function in spinal muscular atrophy is the Revised Upper Limb Module. The DMD Upper Limb patient-reported outcome measure is recommended to assess the upper-limb performance of patients with DMD. Literature gaps and methodological flaws indicate the need to develop high-quality instruments to assess other types of paediatric neuromuscular disease.

Cardiac Autonomic Modulation of Heart Rate Recovery in Children with Spina Bifida.

We aimed to analyse cardiac autonomic control by assessing the post-exercise heart rate recovery (HRR) and physical fitness in children and adolescents with spina bifida (SB), compared to participants with typical development. A total of 124 participants, 42 with spina bifida (SB group) and 82 typical developmental controls (CO group) performed the arm cranking exercise test with a gas analysis system. HRR was determined at the first (HRR_1) and second (HRR_2) minute at recovery phase. Data are shown as [mean difference (95% CI)]. The SB group showed reduced HR reserve [14.5 (7.1-22.0) bmp, P<0.01], slower HRR_1 [12.4 (7.4-17.5) bpm, P<0.01] and HRR_2 [16.3 (10.6-21.9) bpm; P<0.01], lower VO2peak [VO2peak relative: 7.3 (4.2-10.3) mL·min-1·kg-1, P<0.01; VO2peak absolute: 0.42 (0.30-0.54) L·min-1, P<0.01], and lower O2 pulse [2.5 (1.8-3.2) mL·bpm, P<0.01] and ventilatory responses [13.5 (8.8-18.1) L·min-1, P<0.01] than the CO group. VE/VO2 was not different between groups [-2.82 (-5.77- -0.12); P=0.06], but the VE/VCO2 [-2.59 (-4.40-0.78); P<0.01] and the values of the anaerobic threshold corrected by body mass [-3.2 (-5.8- -0.6) mL·min-1·kg-1, P=0.01] were higher in the SB group than in the CO group. We concluded that children and adolescents with SB have reduced physical fitness and a slower HRR response after maximal effort.

Cardiopulmonary Exercise Test Using Arm Ergometry in Children With Spina Bifida: A Prediction Model for O2peak.

PURPOSE: This study aimed to develop a prediction model for peak oxygen uptake ((Equation is included in full-text article.)O2peak) in children with spina bifida (SB), considering peak workload (Wpeak), peak heart rate, age, sex, anthropometric measures, walking level, physical activity level, and level of the lesion. METHODS: Data of 26 participants with SB performing a graded arm crank test were used to develop the prediction model. An unrelated data set of participants with SB was used for validation. RESULTS: The following equation was developed to predict (Equation is included in full-text article.)O2peak of participants with SB: (Equation is included in full-text article.)O2peak (mL/min) = 194+18 × Wpeak - 110 × sex (adjusted R(2) = 0.933, SEE = 96 mL/min). Bland-Altman analysis showed a nonsignificant mean difference between the measured and predicted values of (Equation is included in full-text article.)O2peak (-0.09 L/min) and limits of agreement of -0.4036 and 0.2236 L/min. CONCLUSIONS: The prediction model shows promising results; however, further validation using the same protocol is warranted before implementation in clinical practice.

The Use of a Wheelchair Propulsion Field Test to Determine Peak Heart Rate in Children and Adolescents With Myelomeningocele.

PURPOSE: We analyzed the evolution and pattern of heart rate (HR) during the 12-minute wheelchair propulsion field test (WPFT) and compared the peak HR (HRpeak) from the WPFT to the HRpeak obtained in the progressive cardiopulmonary exercise test on arm cranking ergometer (ACT). We aimed to determine if the field test detects the HRpeak consistently and could be used in clinical practice. METHODS: Eleven wheelchair-using children and adolescents with myelomeningocele (aged 8-15 y) performed a maximal ACT and a 12-minute WPFT. HR was recorded continuously at rest, during each minute of the tests, and at recovery. Mixed analysis of variance was used to compare the variables at rest and peak. Bland-Altman plot and Lin's concordance correlation coefficient were used to show agreement between the tests. RESULTS: During minute 2 of the WPFT, participants reached 73%-96% of the HRpeak values recorded in the ACT. From minutes 4 to 12, participants reached HRpeak values ranging 86%-109% of the values recorded in the ACT. There is agreement between the ACT and the WPFT tests. CONCLUSION: WPFT with minimal duration of 4 minutes may be an alternative tool to obtain HRpeak in children and adolescents with myelomeningocele.

Expression of receptors of advanced glycation end product (RAGE) and types I, III and IV collagen in the vastus lateralis muscle of men in early stages of knee osteoarthritis.

Alterations in the contractile and non-contractile proteins of the skeletal muscle may reduce muscle function in knee osteoarthritis (OA), and the formation and accumulation of advanced glycation end products, particularly in collagen, can influence the quality of these muscle proteins. The objective of this study was to evaluate the reactivity of types I, III and IV collagen and the expression and localization of receptor for advanced glycation end products (RAGE) in the vastus lateralis (VL) muscle in early stages of knee OA. The hypothesis was that these patients present a higher expression of RAGE and increased immunoreactivity in the collagen. Thirty-five men were divided into two groups: the control group (CG; n = 17) and the osteoarthritis group (OAG; n = 18). All participants were submitted to a biopsy of the VL. The muscle samples were analyzed by immunohistochemistry for collagen and for RAGE and laminin. The expression of RAGE was counted (intracellular, extracellular and total). Student's t-test for independent samples and Mann-Whitney U test were used for the RAGE's intergroup analysis (α ≤ 0.05). A semiquantitative analysis was performed to assess the collagen reactivity. No significant differences were observed in the intracellular, extracellular or total localization of RAGE (p > 0.05). Higher immunoreactivity was observed in the OAG for all types of collagen, with more reactivity for collagen III and IV. We concluded that in the initial stages of knee OA, no differences were observed for RAGE levels between the groups. However, the OAG's higher collagen expression may represent adaptations for reducing muscle stiffness and avoiding injury.

Height and body mass index distribution in children and adolescents with and without spina bifida.

OBJECTIVE: Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. METHOD: This study included 101 participants (SB: n = 18; non-SB: n = 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. RESULTS: In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2 = 0.064, p = 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2 = 0.011, p = 0.301). CONCLUSIONS: These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

A deficit to reach the isokinetic velocity in youth wheelchair users with spina bifida.

INTRODUCTION: The self-paced adopted by wheelchair users in their postural transfers and locomotion may require sufficient levels of speed-strength in the upper limbs. In clinical practice, we observed limited functional independence and social participation. OBJECTIVES: This study aimed to investigate and compare the speed-strength relationship between wheelchair users with spina bifida (SB) and typically developing youth. In particular, to analyze if SB wheelchair users reached the preset velocities in the isokinetic evaluation of shoulder and elbow. DESIGN: Cross-sectional observational study. SETTING: Ribeirão Preto Medical School of the University of São Paulo. PARTICIPANTS AND PROCEDURES: SB (SB; n = 11) and controls (CT; n = 22) performed the isokinetic assessment of shoulder abductors (SAB), adductors (SAD), flexors (SFL), extensors (SEX), and elbow flexors (EFL) and extensors (EEX) at velocities of 60 and 120degree.s-1. The analysis of covariance was used to identify the intergroup differences in muscle performance. OUTCOME MEASURES: The values of peak torque (PT), power (Pow), time to peak torque (tPT) and the percentage to reach the isokinetic velocity. RESULTS: The percentage to reach 120degree.s-1 was moderate-to-low for both groups (26-75.9%). CT presented a significantly greater relative risk of reaching the preset velocities than SB. SB presented higher PT and Pow for SAB and SFL at 60degree.s-1, higher PT for SFL and EEX at 120degree.s-1, and lower tPT for SFL at 120degree.s-1 compared to CT. CONCLUSION: SB had difficulty reaching 120degree.s-1, probably related to neuromuscular differences. However, arm movements in their daily tasks seem to maintain the ability to produce PT and Pow.

Development of the Brazilian version of the Performance of Upper Limb scale for children and adolescents with Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is one of the most common and disabling childhood genetic diseases. The course of DMD involves progressive muscular degeneration and weakness, leading to functional decline. The Performance of the Upper Limb scale (PUL) is a specific instrument designed to assess the upper limb function of patients with DMD. OBJECTIVE: To adapt the PUL cross-culturally to Brazilian Portuguese (PUL-Br) and assess the convergent validity, structural validity, inter-rater reliability, and internal consistency for Brazilian patients with DMD METHODS: The cross-cultural adaptation involved six steps: translation to Brazilian Portuguese, Brazilian Portuguese translation synthesis, back-translation to English, back-translation synthesis, an expert committee review, and a pre-final version test (n = 12). The convergent validity of the PUL-Br was evaluated by examining its correlation to the Motor Function Measure scale (MFM) using 30 patients with DMD. Confirmatory factor analysis was conducted to assess structural validity. Intraclass correlation coefficient (ICC) verified the PUL-Br interrater reliability. Cronbach's alpha was calculated to verify internal consistency. RESULTS: The PUL was cross-culturally adapted to Brazilian Portuguese. A strong and positive correlation was found between the PUL-Br total score and the total score on the MFM (r = 0.83; 95% CI: 0.67, 0.91). The PUL-Br showed a satisfactory fit of the data to the three-factor model, excellent inter-rater reliability (ICC: 0.94), and good internal consistency (Cronbach's: 0.91). CONCLUSION: The PUL-Br is valid and reliable for assessing the upper limb function of Brazilian patients with DMD.

Estimation of standing height in spina bifida: model development and validation.

OBJECTIVE: Childhood standing height has been estimated from arm span-related (heightAS) models. The authors aimed to develop and cross-validate a heightAS model in individuals with spina bifida (SB) and examine the accuracy of existing heightAS models. METHODS: Participants were individuals with sacral and low-lumbar SB (n = 14) and non-SB (n = 83), 7-16 years old. Arm span, age, sex, and group (SB vs. non-SB) were candidate height predictors. Sequential regression and leave-one-out cross-validation approaches were used for the model development (M1) and cross-validation (M1-M5). Existing models were: an SB-specific model from Polfuss et al. (M2) and non-SB specific models from Gauld et al. (M3), Mulu et al. (M4), and Zverev et al. (M5) studies. RESULTS: Arm span and group explained 95 % of the variance in height (R2 = 0.95; p < 0.001; SEE = 3.666 cm) and were included in the M1. Mean differences between actual and estimated height were 0.0 cm (M1), 0.4 cm (M2), and 0.5 cm (M5), all not significant (p > 0.05). However, Bland-Altman analysis revealed some variability in the predictability of the models across participants with limits of agreement ranging from 7.4 to 10.9 cm. Considerable errors were observed with M3 (mean diff: -5.58 cm, 95 % CI: -1.6, -20.2 cm), and M4 (mean diff: 10.5 cm, 95 % CI: -13.8, -27.3 cm). CONCLUSIONS: Models (M1, M2 and M5) may accurately estimate standing height in groups of children with SB. However, due to the wide limits of agreement, caution is recommended when applying these models for individual height estimations.

Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease.

BACKGROUND: Implementing scientific knowledge in clinical practice is a challenge. In this context, the effective dissemination of scientific findings is of utmost importance. OBJECTIVE: The aim of this study was to develop a Practice Brief in Portuguese, Spanish and English based on a previously published Clinical Practice Guideline to promote safe and effective exercise for children and young people with Charcot-Marie-Tooth disease and related neuropathies (CMT). METHODS: The Practice Brief was developed by eight health professionals from Brazil and Australia with English, Portuguese, and Spanish translations. The target audience chosen were the medical and allied health professionals involved in the rehabilitation of paediatric CMT. The content was based on the world first "Clinical Practice Guideline for the management of paediatric Charcot-Marie-Tooth disease" [1]. The layout of the Practice Brief was designed according to the criteria for the development of educational materials. The disclosure plan for the Practice Brief involves its publication on University and Hospital websites, www.ClinicalOutcomeMeasures.org and through social media platforms such as ResearchGate, Instagram, Facebook and Twitter, as well as in print format for CMT patient care centres. RESULTS: The English, Portuguese and Spanish versions of the Practice Brief is organised into six sections about assessment, exercise and physical rehabilitation, of which one is focused on progressive resistance exercises for the foot dorsiflexor muscles. CONCLUSION: We developed a Practice Brief in three languages (English, Portuguese and Spanish), synthesising the main recommendations for exercise and related rehabilitative therapies for paediatric CMT from a published clinical guideline.

The impact of the pandemic on physical and functional disabilities in children and adolescents with spina bifida.

STUDY DESIGN: Retrospective and cross-sectional study. OBJECTIVES: The study aimed to carry out telemonitoring to identify the impact of the pandemic on physical and functional disabilities in children and adolescents with SB, as reported by their caregivers, and to investigate adherence to a teleservice. SETTING: Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP-USP). METHODS: Retrospective and cross-sectional study. Fifty-three patients with SB (mean age 12.0 (4.0) years; 23 males) participated in the telemonitoring. A questionnaire - 'Health management, health conditions, rehabilitation, interest in teleservice, and the well-being of the main caregiver' - investigated the clinical impact of the coronavirus pandemic. Only three caregivers participated in the teleservice (video call). RESULTS: According to telemonitoring, 62% of the patients discontinued physiotherapy sessions, and 69% reported needing adjustments in locomotion devices. The main complaints were muscle weakness and pain. CONCLUSION: We monitored general health and identified demands related to physical rehabilitation using telemonitoring in 42.4% of children and adolescents with SB monitored at the HCFMRP-USP. Telemonitoring and teleservice may be methods used for monitoring health conditions in patients with SB.

Morphological adaptation of muscle collagen and receptor of advanced glycation end product (RAGE) in osteoarthritis patients with 12 weeks of resistance training: influence of anti-inflammatory or glucosamine treatment.

The aim of this study was to investigate the effect of 12-week resistance training on morphological presence of collagen and RAGE (receptor for advanced glycation end products) in skeletal muscle of patients with knee osteoarthritis (OA). Little is known about the influence of exercise on the skeletal muscle matrix that supports joints affected by OA mainly when it is associated with medication taken by OA patients (non-steroid anti-inflammatory drugs (NSAID) and glucosamine). A biopsy was collected from the vastus lateralis muscle in all patients before and after 12-week period of training. The patients (age 55-69 years) were divided into three groups, treated with NSAID, glucosamine or placebo. In addition, the muscle samples were analysed by immunohistochemistry for collagen types, RAGE and capillaries ratio. An increment in immunoreactivity for type IV collagen after the training period was observed in 72 % of all biopsies when compared with their respective baseline samples. Reduced immunoreactivity of collagen type I was observed in all patients treated with glucosamine. A significant increase with training in the amount of RAGE was detected in the placebo group only (p < 0.05). Comparison of post-treatment states indicated significant differences between the placebo and glucosamine group data, demonstrating increased levels in the placebo group (p < 0.05). These findings suggest a basement membrane remodelling in favour of a strengthened extracellular matrix surrounding individual muscle fibres after 12 weeks of resistance training. Glucosamine with training appeared to attenuate RAGE accumulation more than was seen with NSAID or placebo in skeletal muscle of OA patients.

Muscle strength, rate of torque development and neuromuscular activation of the upper arm muscles in children and adolescents with spina bifida.

BACKGROUND: The use of locomotive devices requires sufficient levels of upper limb strength. Therefore, it is important to evaluate the maximal isometric torque, rate of torque development and neuromuscular activation in youth with spina bifida. The objective was to investigate these parameters in the elbow muscles of youth with spina bifida versus healthy age-matched peers. METHODS: Forty-eight participants (8-17 years) were recruited: Spina Bifida (n = 23) and non-affected Controls (n = 25). Maximal isometric elbow flexor/extensor contractions were performed to assess maximal muscle strength (peak torque) and rate of torque development, along with synchronized electromyography recording in the biceps and triceps brachii muscles. FINDINGS: During elbow flexor contractions, Spina Bifida showed reduced rate of torque development in the early contraction phase (0-50 ms) along with lowered relative rate of torque development in the later rate of torque development phase (0-100/200/300 ms) compared to controls. Spina Bifida showed reduced rate of torque development for the elbow extensors in the later phase of rising muscle force (0-200/300 ms) compared to controls. Lower isometric peak torque and smaller triceps brachii electromyography amplitudes (0-200/300 ms) were observed during elbow extensor contractions in Ambulatory spina bifida participants vs. controls. INTERPRETATION: Although a majority of peak torque and rate of torque development parameters did not differ, significant impairments in maximal and rapid elbow muscle force characteristics were noted in Spina Bifida compared to non-affected Controls. Ambulatory and Non-ambulatory spina bifida participants demonstrated similar rate of torque development in their upper arm muscles.

Cross-cultural adaptation and concurrent validity of the children's OMNI scale of perceived exertion for Arm-Crank activity in Spina Bifida.

PURPOSE: To perform a cross-cultural adaptation of the OMNI verbal descriptors to Brazilian-Portuguese and examine the validity of the Brazilian version for arm-crank activity. MATERIALS AND METHODS: Cross-cultural adaptation stages were: permission, translation, synthesis, back translation, expert committee review, pretesting, and submission and appraisal. For the concurrent validity, a Brazilian OMNI-Wheel scale was used to obtain rating of perceived exertion for the overall body (RPEOverall) and arms (RPEArms) in participants (n = 9, 10-17 years) with spina bifida. Cardiopulmonary exercise test was used to measure heart rate (HR) and oxygen uptake (VO2). Repeated Measures Correlation (rrm) was used to examine the scale validity. RESULTS: The cross-cultural adaptation produced equivalence between English and Brazilian-Portuguese verbal descriptors based on successful translation and pretesting. The Brazilian OMNI-wheel was validated based on strong associations of RPEOverall with VO2 (rrm (35) = 0.86, 95% CI [0.93, 0.73], p < 0.001) and HR (rrm (35) = 0.89, 95% CI [0.94, 0.79], p < 0.001) and RPEArms with VO2 (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001) and HR (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001). CONCLUSIONS: The OMNI scale was cross-culturally adapted to Brazilian-Portuguese. The Brazilian OMNI-Wheel was validated based on strong associations of RPE with HR and VO2. Implications For RehabilitationThe original English OMNI was cross-culturally adapted to Brazilian-Portuguese.A Brazilian wheelchair OMNI was concurrently validated for Arm-Crank Activity in adolescents with spina bifida.This OMNI scale version may aid health providers in monitoring perceived exertion in Brazil.