Effects of Rehabilitative Exercise and Neuromuscular Electrical Stimulation on Muscle Morphology and Dynamic Balance in Individuals with Chronic Ankle Instability.

Background and Objectives: Muscle atrophy caused by chronic ankle instability (CAI) can incur muscle weakness, altered movement patterns, and increased risk of injury. Previous studies have investigated the effects of rehabilitative exercises and neuromuscular electrical stimulation (NMES) on characteristics in CAI individuals, but few studies have examined their effects on foot and ankle muscle morphology. This study aimed to determine the effects of rehabilitative exercises and NMES on muscle morphology and dynamic balance in individuals with CAI. Materials and Methods: Participants with CAI (n = 47) were randomly divided into control (CG), rehabilitative exercise (REG), NMES (NG), and rehabilitative exercise and NMES combined (RNG) groups. The six-week intervention program consisting of rehabilitative exercises and NMES was applied to groups excluding CG. Muscle morphology and dynamic balance were evaluated using a portable wireless diagnostic ultrasound device and dynamic balance tests. For statistical analysis, an effect size with 95% confidence interval was calculated to assess mean differences according to intervention. Results: After six weeks, significant increases in morphology and dynamic balance were observed for all muscles except flexor hallucis longus (p > 0.05) in the intervention groups except for CG. However, no significant changes were observed in the CG (p > 0.05). Conclusions: These findings suggest that intervention programs may help prevent muscle atrophy and improve balance in CAI individuals.

Physical therapy protocols to attenuate skeletal muscle atrophy in critically ill patients: narrative review / Protocolos de terapia física para atenuar la atrofia del músculo esquelético en pacientes críticos: revisión narrativa

SUMMARY: To describe the physical therapy protocols used in critically ill patients to attenuate skeletal muscle atrophy. We conducted a search in PubMed and Embase from inception to November 2020. Observational or experimental studies published in English or Spanish that evaluated the effect of physical therapy protocols on the attenuation of skeletal muscle atrophy in critically ill patients through muscle strength or mass measurement were considered eligible. Studies were only included if they reported a detailed description of the dosing of the interventions. Seventeen studies met the eligibility criteria. We included randomised clinical trials (n = 16) and observational studies (n = 1). The total population of the included studies was 872 critically ill patients. The studies aimed to evaluate the reliability, safety or effectiveness of neuromuscular electrical stimulation (n = 10) protocols, early mobilisation (n = 3), ergometer training (n = 2), transfers in tilt table (n = 1), and blood flow restriction (n = 1). Physical therapy protocols are part of the critically ill patient's integral management. Strategies such as passive mobilisation, in-bed and out-of-bed transfers, gait training, ergometer training, and neuromuscular electrical stimulation substantially impact critically ill patients' prognoses and quality of life after hospital discharge.

RESUMEN: Describir los protocolos de terapia física usados en pacientes críticos para atenuar la atrofia muscular esquelética. Realizamos una búsqueda en PubMed y Embase desde el inicio hasta noviembre de 2020. Se consideraron los estudios observacionales o experimentales publicados en inglés o español que evaluaron el efecto de los protocolos de terapia física en la atenuación de la atrofia del músculo esquelético en pacientes críticos a través de la medición de la fuerza o la masa muscular. Los estudios solo se incluyeron si informaron una descripción detallada de la dosificación de las intervenciones. Diecisiete estudios cumplieron los criterios de elegibilidad. Se incluyeron ensayos clínicos aleatorizados (n = 16) y estudios observacionales (n = 1). La población total de los estudios incluidos fue de 872 pacientes en estado crítico. Los estudios tuvieron como objetivo evaluar la confiabilidad, seguridad o efectividad de los protocolos de estimulación eléctrica neuromuscular (n = 10), movilización temprana (n = 3), entrenamiento con ergómetro (n = 2), transferencias en mesa basculante (n = 1) y restricción del flujo sanguíneo (n = 1). Los protocolos de terapia física forman parte del manejo integral del paciente crítico. Es- trategias como la movilización pasiva, los traslados dentro y fuera de la cama, el entrenamiento de la marcha, el entrenamiento con ergómetro y la estimulación eléctrica neuromuscular tienen un impacto sustancial en el pronóstico y la calidad de vida de los pacientes críticos después del alta hospitalaria.

Genomic and Epigenomic Evaluation of Electrically Induced Exercise in People With Spinal Cord Injury: Application to Precision Rehabilitation.

OBJECTIVE: Physical therapists develop patient-centered exercise prescriptions to help overcome the physical, emotional, psychosocial, and environmental stressors that undermine a person's health. Optimally prescribing muscle activity for people with disability, such as a spinal cord injury, is challenging because of their loss of volitional movement control and the deterioration of their underlying skeletal systems. This report summarizes spinal cord injury-specific factors that should be considered in patient-centered, precision prescription of muscle activity for people with spinal cord injury. This report also presents a muscle genomic and epigenomic analysis to examine the regulation of the proliferator-activated receptor γ coactivator 1α (PGC-1α) (oxidative) and myostatin (hypertrophy) signaling pathways in skeletal muscle during low-frequency (lower-force) electrically induced exercise versus higher-frequency (higher-force) electrically induced exercise under constant muscle recruitment (intensity). METHODS: Seventeen people with spinal cord injury participated in 1 or more unilateral electrically induced exercise sessions using a lower-force (1-, 3-, or 5-Hz) or higher-force (20-Hz) protocol. Three hours after the exercise session, percutaneous muscle biopsies were performed on exercised and nonexercised muscles for genomic and epigenomic analysis. RESULTS: We found that low-frequency (low-force) electrically induced exercise significantly increased the expression of PGC-1α and decreased the expression of myostatin, consistent with the expression changes observed with high-frequency (higher-force) electrically induced exercise. Further, we found that low-frequency (lower-force) electrically induced exercise significantly demethylated, or epigenetically promoted, the PGC-1α signaling pathway. A global epigenetic analysis showed that >70 pathways were regulated with low-frequency (lower-force) electrically induced exercise. CONCLUSION: These novel results support the notion that low-frequency (low-force) electrically induced exercise may offer a more precise rehabilitation strategy for people with chronic paralysis and severe osteoporosis. Future clinical trials are warranted to explore whether low-frequency (lower-force) electrically induced exercise training affects the overall health of people with chronic spinal cord injury.

Early rehabilitation relieves diaphragm dysfunction induced by prolonged mechanical ventilation: a randomised control study.

BACKGROUND: Prolonged mechanical ventilation (MV) induces diaphragm dysfunction in patients in the intensive care units (ICUs). Our study aimed to explore the therapeutic efficacy of early rehabilitation therapy in patients with prolonged MV in the ICU. METHODS: Eighty eligible patients who underwent MV for > 72 h in the ICU from June 2019 to March 2020 were enrolled in this prospective randomised controlled trial. The patients were randomly divided into a rehabilitation group (n = 39) and a control group (n = 41). Rehabilitation therapy included six levels of rehabilitation exercises. Diaphragm function was determined using ultrasound (US). RESULTS: Diaphragmatic excursion (DE) and diaphragm thickening fraction (DTF) were significantly decreased in all patients in both groups after prolonged MV (p < 0.001). The rehabilitation group had significantly higher DTF (p = 0.008) and a smaller decrease in DTF (p = 0.026) than the control group after 3 days of rehabilitation training. The ventilator duration and intubation duration were significantly shorter in the rehabilitation group than in the control group (p = 0.045 and p = 0.037, respectively). There were no significant differences in the duration of ICU stay, proportion of patients undergoing tracheotomy, and proportion of recovered patients between the two groups. CONCLUSIONS: Early rehabilitation is feasible and beneficial to ameliorate diaphragm dysfunction induced by prolonged MV and advance withdrawal from the ventilator and extubation in patients with MV. Diaphragm US is suggested for mechanically ventilated patients in the ICU. Trial registration Chinese Clinical Trial Registry, ID: ChiCTR1900024046, registered on 2019/06/23.

Effect of eccentric exercise on markers of muscle damage in patients with chronic obstructive pulmonary disease.

Background: Eccentric exercise may be considered as an attractive alternative to conventional exercise in pulmonary rehabilitation (PR) for patients with chronic obstructive pulmonary disease (COPD). However, due to muscle damage associated with eccentric exercise, there has been reluctance in using this exercise form in PR.Objective: The aim of the present study was to investigate the effect of eccentric exercise on markers of muscle damage in patients with COPD.Methods: We analyzed 14 patients with moderate-severe COPD and 14 age-matched healthy controls. Both groups performed submaximal eccentric exercise of the elbow flexors. Muscle soreness (MS), maximum voluntary isometric contraction (MVC) of the elbow flexors, elbow range of motion (ROM), upper arm circumference (CIR), and biochemical markers such as creatine Kinase (CK) and lactate Dehydrogenase (LDH) were measured at pre-exercise, 24 h, 48 h, and 72 h following submaximal eccentric exercise.Results: There was a significant difference in markers of muscle damage, MS (p = .002), MVC (p < .001), ROM (p = .010), CIR (p < .001), and LDH (p = .001). However, no significant differences were observed in the activity of CK (p = .261) between COPD and control group following eccentric exercise which indicates greater degree of muscle damage in COPD as compared with control.Conclusion: Sub-maximal eccentric exercise causes significantly greater muscle damage in elderly COPD patients than healthy controls. Therefore, initial exercise should be progressed with lower intensities to prevent undue muscle damage in these patients.

Intervenciones fisioterápicas mediante hipoterapia en el tratamiento de la parálisis cerebral infantil. Revisión bibliográfica / Physiotherapy interventions through hippotherapy in the treatment of cerebral palsy. A literature review

INTRODUCCIÓN: La parálisis cerebral es producida por una lesión no progresiva en el cerebro durante su desarrollo. Esta lesión da lugar a una afectación motora y a disfunciones del área perceptiva, del habla, comunicativa, de cognición y de competencia. La fisioterapia es una parte muy importante del tratamiento de esta patología, donde podemos incluir la hipoterapia, que utiliza el movimiento equino para estimular los sistemas sensoriales, neuromotores y cognitivos con el fin de promover resultados funcionales. METODOLOGÍA: Se llevó a cabo una búsqueda bibliográfica utilizando diferentes bases de datos y las palabras claves: «cerebral palsy» (parálisis cerebral), «children» (niños), «treatment» (tratamiento) y «physiotherapy» (fisioterapia). Tras la aplicación de los criterios de inclusión y exclusión, la eliminación de los artículos duplicados y la lectura crítica, se seleccionaron 22 artículos. CONCLUSIÓN: La hipoterapia es utilizada en el ámbito de la fisioterapia para el tratamiento de la parálisis cerebral infantil, mediante la manipulación intencionada del movimiento equino para estimular los sistemas sensitivos, neuromotores y cognitivo con el fin de promover resultados funcionales. Entre las intervenciones usadas, la más recomendada por los autores es la alineación postural, aunque no existe un protocolo único de actuación, sino que el tratamiento se adapta de forma individual a las necesidades de cada paciente con parálisis cerebral

INTRODUCTION: Cerebral palsy is produced by nonprogressive injury to the developing brain. This lesion produces life-long motor impairments, disturbances in perception, speech, communication, cognition and competence. Physiotherapy is an important part of treatment, and may include hippotherapy, which uses the movement of the horse to stimulate the sensorial, neuromotor and cognitive systems to obtain functional results. METHODS: We performed a literature search using distinct databases and the following Keywords: "hippotherapy"; "cerebral palsy"; "children"; "treatment" and "physiotherapy". After application of the inclusion and exclusion criteria; elimination of duplicated tests; and critical appraisal of the retrieved texts; 22 articles were finally selected for the review. CONCLUSION: Hippotherapy is used by physiotherapy in the treatment of cerebral palsy. In this therapy, the horse's movement is purposefully manipulated to stimulate the patient's sensitive, neuromotor and cognitive systems and promote functional goals. Among the interventions used, the most recommend by the authors is the postural alignment, although there is no single standard of care, but the treatment is individually-tailored to the needs of each patient with cerebral palsy

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate intellectual disability. DIAGNOSIS: Two novel compound heterozygous mutations of THOC6, c.664T>C (p.Trp222Arg) and c.945+1 G>A were identified in this patient by whole exome sequencing. The two mutations were evaluated as pathogenic and likely pathogenic respectively according to the American College of Medical Genetics guidelines. This is the first case displaying the BBIS phenotype reported in the Chinese population. These two mutations have not been reported previously. INTERVENTIONS: Symptomatic treatment and rehabilitation training for patients. OUTCOMES: The genetic cause of the disease was identified. The family received scientific genetic counseling. LESSONS: BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.

Adaptation of Fatigue Affected Changes in Muscle EMG Frequency Characteristics for the Determination of Training Load in Physical Therapy for Cancer Patients.

Cancer patients often experience loss in body weight and also a decrease in muscle mass, which results in the reduction of physical activity and mobilization of the patient. To decelerate the loss of muscle mass, as part of the cancer treatment patients frequently undergo physical therapy and considering the physical capabilities of the patients, with moderate loads. Moreover, frequent studies also observed for cancer patients, together with the decrease in muscle mass a shift into fast-twitch muscle fibers from slow-twitch fibers. The aim of our study therefore was to determine how motor fibers behave under moderate isometric load executed until total exhaustion. 11 university students (G1), and 14 elite athletes (G2) participated in the study. 65% of the maximal voluntary contraction (MVC) was determined for the biceps brachii muscle, and with this load holding a weight, participants had to sustain a 90 deg. isometric elbow flexion in a standing posture until complete fatigue occurred. EMG activity for the biceps brachii muscle was measured and frequency analysis was performed. 3 windows were determined in the fatiguing protocol: the first (W1), middle (W2), and last (W3) 5 s, and also frequency analysis for MVC was performed (MAX) between 0 and 260 Hz with 20 Hz wide frequency bands. The results indicate, that as the protocol progressed in time and the effect of fatigue increased (from W1 to W3) the activity of low frequency muscle fibers significantly increased (0-40 Hz) while activity of high frequency muscle fibers (60-260 Hz) significantly decreased for G1 and G2 groups identically. We can conclude, that training applied with constant moderate tension as fatigue increases will result in the increased activation of the lower frequency slow-twitch muscle fibers, but the increase of fatigue in the lower frequency fibers will not result in the increase in the activation level of the higher frequency fast-twitch fibers. Consequently, because as slow-twitch fibers are being used at moderate loads and even when fatigue occurs in these fibers the fast-twitch fibers will not work, higher muscle loads are needed if the aim is to activate fast-twitch fibers. Considering the shift into fast-twitch muscle fibers from slow-twitch fibers for cancer patients, in some cases if the patient's age and physical status allows during the physical treatment, higher loads and consequently higher levels of activation might be beneficial for the retardment of loss concerning the fast-twitch fiber mass.

Muscular Atrophy and Sarcopenia in the Elderly: Is There a Role for Creatine Supplementation?

Sarcopenia is characterized by a loss of muscle mass, quality, and function, and negatively impacts health, functionality, and quality of life for numerous populations, particularly older adults. Creatine is an endogenously produced metabolite, which has the theoretical potential to counteract many of the morphological and metabolic parameters underpinning sarcopenia. This can occur through a range of direct and indirect mechanisms, including temporal and spatial functions that accelerate ATP regeneration during times of high energy demand, direct anabolic and anti-catabolic functions, and enhanced muscle regenerating capacity through positively impacting muscle stem cell availability. Studies conducted in older adults show little benefit of creatine supplementation alone on muscle function or mass. In contrast, creatine supplementation as an adjunct to exercise training seems to augment the muscle adaptive response to the training stimulus, potentially through increasing capacity for higher intensity exercise, and/or by enhancing post-exercise recovery and adaptation. As such, creatine may be an effective dietary strategy to combat age-related muscle atrophy and sarcopenia when used to complement the benefits of exercise training.

Aging impairs mouse skeletal muscle macrophage polarization and muscle-specific abundance during recovery from disuse.

Impaired recovery of aged muscle following a disuse event is an unresolved issue facing the older adult population. Although investigations in young animals have suggested that rapid regrowth of skeletal muscle following a disuse event entails a coordinated involvement of skeletal muscle macrophages, this phenomenon has not yet been thoroughly tested as an explanation for impaired muscle recovery in aging. To examine this hypothesis, young (4-5 mo) and old (24-26 mo) male mice were examined as controls following 2 wk of hindlimb unloading (HU) and following 4 (RL4) and 7 (RL7) days of reloading after HU. Muscles were harvested to assess muscle weight, myofiber-specifc cross-sectional area, and skeletal muscle macrophages via immunofluorescence. Flow cytometry was used on gastrocnemius and soleus muscle (at RL4) single-cell suspensions to immunophenotype skeletal muscle macrophages. Our data demonstrated impaired muscle regrowth in aged compared with young mice following disuse, which was characterized by divergent muscle macrophage polarization patterns and muscle-specifc macrophage abundance. During reloading, young mice exhibited the classical increase in M1-like (MHC II+CD206-) macrophages that preceeded the increase in percentage of M2-like macrophages (MHC II-CD206+); however, old mice did not demonstrate this pattern. Also, at RL4, the soleus demonstrated reduced macrophage abundance with aging. Together, these data suggest that dysregulated macrophage phenotype patterns in aged muscle during recovery from disuse may be related to impaired muscle growth. Further investigation is needed to determine whether the dysregulated macrophage response in the old during regrowth from disuse is related to a reduced ability to recruit or activate specific immune cells.

Pericyte transplantation improves skeletal muscle recovery following hindlimb immobilization.

Conditions of extended bed rest and limb immobilization can initiate rapid and significant loss of skeletal muscle mass and function. Physical rehabilitation is standard practice following a period of disuse, yet mobility may be severely compromised, and recovery is commonly delayed or incomplete in special populations. Thus, a novel approach toward recovery of muscle mass is highly desired. Pericytes [neuron-glial antigen 2 (NG2)+CD31-CD45- (Lineage- [Lin-]) and CD146+Lin-] demonstrate capacity to facilitate muscle repair, yet the ability to enhance myofiber growth following disuse is unknown. In the current study, 3-4-mo-old mice were unilaterally immobilized for 14 d (IM) or immobilized for 14 d followed by 14 d of remobilization (RE). Flow cytometry and targeted gene expression analyses were completed to assess pericyte quantity and function following IM and RE. In addition, a transplantation study was conducted to assess the impact of pericytes on recovery. Results from targeted analyses suggest minimal impact of disuse on pericyte gene expression, yet NG2+Lin- pericyte quantity is reduced following IM (P < 0.05). Remarkably, pericyte transplantation recovered losses in myofiber cross-sectional area and the capillary-to-fiber ratio following RE, whereas deficits remained with vehicle alone (P = 0.01). These findings provide the first evidence that pericytes effectively rehabilitate skeletal muscle mass following disuse atrophy.-Munroe, M., Dvoretskiy, S., Lopez, A., Leong, J., Dyle, M. C., Kong, H., Adams, C. M., Boppart, M. D. Pericyte transplantation improves skeletal muscle recovery following hindlimb immobilization.

Blood Flow Restriction Therapy Versus Standard Care for Reducing Quadriceps Atrophy After Anterior Cruciate Ligament Reconstruction.

Clinical Scenario: Quadriceps atrophy and weakness are common after anterior cruciate ligament reconstruction (ACLR). Blood flow restriction (BFR) therapy, alone or in combination with exercise, has shown some promise in promoting muscular hypertrophy. This review was conducted to ascertain the extent to which current evidence supports the use of BFR for reducing quadriceps atrophy following ACLR in comparison with standard care. Clinical Question: Is BFR more effective than standard care for reducing quadriceps atrophy after ACLR? Summary of Key Findings: The literature was searched for studies that directly compared BFR treatment to standard care in patients with ACLR. Three level I randomized control trial studies retrieved from the literature search met the inclusion criteria. Clinical Bottom Line: Reviewed data suggest that a short duration (13 d) of moderate-pressure BFR combined with low-resistance muscular training does not appear to measurably affect quadriceps cross-sectional area. However, a relatively long duration (15 wk) of moderate-pressure BFR combined with low-resistance muscular training may increase quadriceps cross-sectional area to a greater extent than low-resistance muscular training alone. The results of the third randomized control trial suggest that employing BFR while immobilized in the early postoperative period may reduce quadriceps atrophy following ACLR. Additional data are needed to establish if the benefits of BFR on quadriceps atrophy after ACLR outweigh the inherent risks and costs. Strength of Recommendation: All evidence for this review was level 1 (randomized control trial) based on the Centre for Evidence-Based Medicine criteria. However, the findings were inconsistent across the 3 studies regarding the effects of BFR on quadriceps atrophy resulting in a grade "B" strength of recommendation.

Functional Tasks Performed by People with Severe Muscular Atrophy Using an sEMG Controlled Robotic Manipulator.

For paralyzed people activities of daily living like eating or drinking are impossible without external assistance. Robotic assistance systems can give these people a part of their independence back. Especially if the operation with a joystick is not possible anymore due to a missing hand function, people need innovative interfaces to control assistive robots in 3D. Besides brain computer interfaces an approach based on surface electromyography (sEMG) can present an opportunity for people with a strong muscular atrophy. In this work we show that two people with proceeded spinal muscular atrophy can perform functional tasks using an sEMG controlled robotic manipulator. The interface provides a continuous control of three degrees of freedom of the endeffector of the robot. The performance was assessed with two clinical measures of upper limb functionality: the Box and Blocks Test and the Action Research Arm Test. Additionally, the participant could show that they can drink by themselves with the provided system.

Targeted gluteal exercise versus sham exercise on self-reported physical function for people with hip osteoarthritis (the GHOst trial - Gluteal exercise for Hip Osteoarthritis): a protocol for a randomised clinical trial.

BACKGROUND: Clinical practice guidelines recommend exercise as the first line of management for hip osteoarthritis, yet high-quality evidence from Cochrane reviews suggest only slight benefits for pain and physical function; and no benefit on quality of life (low-quality evidence). However, the scope of physical impairments identified in people with hip osteoarthritis may not have been adequately addressed with targeted rehabilitation options in previous randomised controlled trials (RCTs). Potential targeted options include gait retraining to address spatio-temporal impairments in walking; motor control training to address deep gluteal (gluteus minimus) dysfunction; and progressive, high-intensity resistance exercises to address atrophy of the gluteal muscles. The aim of this study is to investigate the effect of a targeted gluteal rehabilitation programme that incorporates gait retraining, motor control and progressive, high-intensity resistance-strength training, to address physical activity levels and self-reported physical function in people with mild to moderate disability from hip osteoarthritis. METHODS: Ninety people diagnosed with mild to moderately disabling hip osteoarthritis will be recruited and randomised to receive one of two exercise programmes (sham or GHOst programme). Interventions will be 12 weeks in duration, with weekly, supervised physiotherapy sessions, and daily home exercises. Both groups will receive standardised education. Outcomes will be assessed at baseline, 7 weeks, 13 weeks (primary time-point) and 25 weeks. The primary outcome will be self-reported physical function measured with the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Secondary outcomes include physical activity measured with a tri-axial accelerometer, physical function tests, self-reported physical activity, isometric hip-muscle strength tests, hip-related patient-reported outcome measures, pain thoughts and depressive symptoms, quality of life, global rating of change, gluteal-muscle activity (electromyography (EMG)) and gluteal-muscle size and adiposity (magnetic resonance imaging (MRI)). DISCUSSION: This will be the first study to compare a targeted gluteal rehabilitation programme to a sham exercise programme. The targeted GHOst programme includes exercises designed to address gait impairments as well as gluteal-muscle atrophy and dysfunction. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry, ID: ACTRN12617000970347 . Registered retrospectively on 5 July 2017. Protocol version 3.0.

Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome.

Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 ( MCT8), which leads to deficient thyroid hormone transport. Typical features include severe cognitive impairment, truncal hypotonia, spastic paraplegia, weakness, and speech difficulties. Minimal literature exists describing the ocular findings in patients with Allan-Herndon-Dudley syndrome. We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein. All affected siblings presented with classic findings of Allan-Herndon-Dudley syndrome, and each of the siblings also developed intermittent esotropia. This group of affected siblings represents the first consistent documentation of strabismus in Allan-Herndon-Dudley syndrome, suggesting a possible association between this clinical finding and the neurologic syndrome.

Physical Rehabilitation Core Outcomes In Critical illness (PRACTICE): protocol for development of a core outcome set.

BACKGROUND: Existing data on physical rehabilitation interventions in critical illness are challenged by outcome heterogeneity that limits data synthesis and translation of research findings into clinical practice. This protocol describes the PRACTICE study to develop a core outcome set (COS) for trials of physical rehabilitation interventions delivered across the continuum of a patient's recovery from the intensive care unit until reintegration in the community following hospital discharge. METHODS: Mixed methods will be used including: systematic reviews of quantitative and qualitative literature; qualitative interviews with patients and caregivers; a modified Delphi consensus process with researcher, clinician and patient/caregiver stakeholder groups; and consensus meetings for ratification of findings, resolving uncertainty, or developing an action plan for COS implementation. DISCUSSION: The PRACTICE COS will inform relevant stakeholders about important outcomes regarding physical rehabilitation in critical illness, and may enhance the future design and conduct of trials in this area. TRIAL REGISTRATION: COMET database ( www.comet-initiative.org/ , Record ID 288, 01/03/13). PROSPERO database ( CRD42014008908 , CRD42017078549 ).

Challenging Diagnosis and Inpatient Rehabilitation of Acute Bilateral Neuralgic Amyotrophy Possibly Attributed to Lyme Disease: A Case Report.

Neuralgic amyotrophy (NA) is a neurologic syndrome of unknown etiology primarily affecting the brachial plexus. We are reporting an unusual case of acute bilateral NA that was possibly secondary to Lyme disease. The patient demonstrated significant functional gains and was discharged home after 2 weeks of inpatient rehabilitation, supporting the role of inpatient rehabilitation in acute NA. In this report, we discuss the diagnosis, electrodiagnostic progression, pain management, goals for inpatient rehabilitation, and overall prognosis of NA. LEVEL OF EVIDENCE: V.

Aging-related effects of bed rest followed by eccentric exercise rehabilitation on skeletal muscle macrophages and insulin sensitivity.

The pro- and anti-inflammatory macrophages are associated with insulin sensitivity and skeletal muscle regeneration. Infiltrating macrophages in skeletal muscle during a period of physical inactivity and subsequent reloading/rehabilitation in older adults is unknown, but may provide insight into mechanisms related to the development of metabolic disease and changes in muscle cell size. The purpose of this study was to determine if skeletal muscle macrophage infiltration is modulated differently between young and older adults after bed rest and exercise rehabilitation and if these responses are related to muscle and insulin sensitivity changes. 14 young and 9 older adults underwent 5-days of bed rest followed by 8-weeks of lower limb eccentric exercise rehabilitation (REHAB). Dual-energy X-ray absorptiometry, magnetic resonance imaging and myofiber analysis were used to identify muscle morphology and CLIX-IR and CLIX-ß were used to assess insulin sensitivity. Skeletal muscle macrophages, CD68 (pan), CD11b (M1), CD163 (M2), CD206 (M2), were characterized using immunohistochemistry and gene expression. Insulin sensitivity, independent of age, decreased ~38% following bed rest and was restored following REHAB. We found robust age-related differences in muscle atrophy during bed rest, yet older and younger adults equally hypertrophied during REHAB. Interestingly, there were age-related differences in macrophage content (CD68+CD11b+ and CD68+CD11b- cells) but both young and old similarly increased macrophages with REHAB. Satellite cell changes during rehab corresponded to macrophage content changes. Muscle tissue resident macrophages and gene expression, were not associated with changes in insulin sensitivity following bed rest and REHAB. These data suggest that muscle macrophages are modulated as a result of exercise rehabilitation following bed rest and may more associated with muscle regrowth/hypertrophy rather than insulin sensitivity in young or older adults. This trial was registered at clinicaltrials.gov as NCT01669590.

Luxación de caderas y dolor en la atrofia muscular espinal tipo III. Casos clínicos / Hip dislocation and pain in spinal muscular atrophy type III. A report of two cases

La atrofia muscular espinal, es la segunda enfermedad neuromuscular más frecuente en la infancia. Se transmite con carácter autosómico recesivo. Se conocen tres formas clínicas, según la edad de inicio de los síntomas y la capacidad de marcha, con una gran variabilidad en el pronóstico vital y funcional. Durante su evolución aparecen distintas complicaciones del aparato locomotor, entre las que destaca la luxación de caderas, en la cual, según la mayoría de los autores no se recomienda actualmente la cirugía, debido a la alta frecuencia de recidivas. Por otro lado, se cree que la existencia de dolor asociada a la misma es poco frecuente, y tanto su aparición como el manejo del mismo, están muy poco reportados. Presentamos dos pacientes con atrofia muscular espinal III, con luxación de caderas asociada a dolor, a las que se practicó una artrocentesis más infiltración con anestésico y corticoides, consiguiéndose de esta forma el control del dolor. Creemos que es una opción terapéutica a tener en cuenta, cuando la luxación de cadera se acompaña de dolor, se objetiva derrame intraarticular y el cuadro no remite con el tratamiento farmacológico habitual (AU)

Spinal muscular atrophy is the second most frequent hereditary neuromuscular disease during childhood. Transmission is autosomal recessive. There are three clinical forms, classified according to age of symptom onset and ability to walk, with a wide range of severity. As the disorder progresses, several complications related to the locomotor apparatus may appear. Hip dislocation is a frequent manifestation associated with spinal muscular atrophy. Currently, most authors believe that surgery of the hip joint in these patients is not justified because of the high incidence of redislocations. Moreover, it is believed that hip dislocation is rarely associated with pain, with very few reports of its presence or the need for pain management. We report two patients with spinal muscular atrophy type III and hip dislocation with associated pain. The patients underwent arthrocentesis and infiltration with anaesthetic and corticoids, which achieved pain control. We believe that this is a good therapeutic option to consider when hip dislocation is associated with pain that cannot be controlled with conventional drug treatment (AU)