Muscle Motor Research Articles

An Unusual Presentation of Anti Pm/Scl Antibody-positive Idiopathic Inflammatory Myositis

ABSTRACT Idiopathic inflammatory myopathies are the heterogeneous group of diseases that affect multiple systems apart from the skeletal muscles, preferentially affecting the proximal skeletal muscle. We present a rare case with quadriparesis, purely involvement of proximal muscles without any extra muscular symptoms with positive Anti Pm/Scl antibodies. Our patients was 52 year old male who presented to be symptomatic with generalized swelling all over the body followed by progressive pure proximal group of muscles motor weakness of all four limbs without sensory involvement. He also developed oropharyngeal weakness, in the form of nasal regurgitation of food and significant weight loss. C reactive protein was 22 mg/L, erthryocyte sedimentation rate was 30 mm after 1 h, and liver enzymes were also increased (aminotransferase was 236 U/L and alanine aminotransferase was 145 U/L). His lactate dehydrogenase was 1175 U/L whereas creatinine kinase was 3290 U/L. His ANA profile was positive for Anti Pm/ Scl antibodies. MRI of both thighs was suggestive of diffuse inflammatory changes in both lower limbs and pelvic girdle and PET CT was suggestive of increased uptake in proximal limb muscles. He was managed with pulse Inj Methylprednisolone and intravenous Immunoglobulin. This followed by oral prednisolone for a few months than slow tapering. In Conclusion that Anti Pm/Scl antibody positive idiopathic inflammatory myositis can also present atypically without any other systemic manifestation and weakness in lower limb more than upper limbs. Idiopathic inflammatory myopathies disease is one of the treatable diseases that repones to immunomodulation therapy.

The Effect of the Microbiota Metabolite – Butyric Acid on Motor Coordination, Muscle Strength and the Level of Oxidative Stress in Skeletal Muscles in Mice with Dysbiosis

According to modern concepts, the composition and diversity of the intestinal microbiota play an essential role in maintaining immunity, homeostasis, and, in general, the physiological functions of the host organism. Recently the positive role of the microbiota and its metabolites especially short-chain fatty acids, in the metabolism and functional activity of skeletal muscles was reported. The aim of our work was to analyze muscle strength and motor coordination in mice after injection of broad–spectrum antibiotics with simultaneous administration of a microbiota metabolite – one of the representatives of short-chain fatty acids – butyric acid. In addition, we determined the level of malondialdehyde, the concentration of total glutathione and the activity of glutathione peroxidases in the muscles of the hind limbs in mice with administration of antibiotics and butyric acid. The administration of antibiotics to adolescent mice for two weeks induced higher mortality and decrease of weight, and also caused significant changes in motor behavior, including an increase in horizontal motor activity, decrease in vertical motor activity, muscle strength, and motor coordination. A higher level of oxidative stress was found in the muscle tissues of the hind limbs of mice treated with antibiotics. At the same time, oral administration of butyric acid prevented the observed changes and improved not only behavioral disorders, but also partially reduced the level of oxidative stress. In conclusion, metabolite of normal microbiota has a positive effect on the functional and biochemical parameters of skeletal muscles in dysbiosis, which can be used to prevent loss of muscle function in various pathological conditions.

Localization of the gracilis muscle motor points - key considerations for botulinum neurotoxin injection and electrical stimulation.

Muscle motor points are considered the best sites for electrode positioning in electrical stimulation and, by some researchers, for botulinum neurotoxin injections. The aim of this study is to locate the motor points in the gracilis muscle to improve muscle function maintenance and treatment of spasticity. Ninety-three gracilis muscles (49 right, 44 left), fixed in 10% formalin solution, were subjected to the research. All nerve branches running towards the muscle were precisely traced to each motor point. Specific measurements were collected. The gracilis muscle presents multiple motor points (median of 12), all of which were localized on the deep (lateral) side of the muscle belly. Generally, motor points of this muscle were spread between 15% - 40% of the reference line length. Our findings may help clinicians identify appropriate locations for electrode placement during electrical stimulation of the gracilis muscle; they also deepen our understanding of the correlation between motor points and motor end plates and improve the application of botulinum neurotoxin injections.

Aquatic Cycling for a Child With Hemiplegic Cerebral Palsy: A Case Report

Introduction and Purpose: Cerebral palsy (CP) causes multisystem deficits including abnormalities in muscle tone, motor control, postural control, and balance, which lead to functional limitations. Research demonstrates that aquatic physical therapy (APT) aids in mitigating negative effects of CP in children. Land-based adapted cycling (LBADC) programs use adapted bicycles to facilitate movement, strength, and endurance, with promising results in children with CP. Aquatic cycling (AC), using a stationary bicycle submerged in water, posits benefits in adults. No study has investigated the combination of APT and cycling for children. The purpose of this case report is to present the outcomes of an AC program for a child with CP. Case Description: The patient was a 9-year-old boy diagnosed with hemiplegic CP, Gross Motor Function Classification System level II presenting with hypertonicity, and decreased motor control and strength throughout his right side, resulting in limitations in endurance and functional mobility. AC sessions consisted of 20 minutes of stationary AC, with a 5-minute warm-up and cooldown. Outcomes: A total of 10 AC sessions yielded improvements in strength and functional ability. Timed Up and Go test scores improved by 1.3 seconds, exceeding the minimal clinically important difference of 1.2 seconds. The 6-Minute Walk Test score increased by 284 ft, exceeding the minimal detectable change (MDC). Strength improvements were obtained at the right hip abductors and ankle dorsiflexors and bilateral knee flexors, exceeding the MDC of 1.7 lb. Discussion: This is the first study to investigate the effect of AC for a child with CP. Results indicate that AC sessions were beneficial in improving the patient's strength, endurance, and gait efficiency and may be an effective way to engage children with CP in therapeutic exercise.

SPINAL MUSCULAR ATROPHY CLINICAL FEATURES, CLASSIFICATION, NATURAL HISTORY, GENETICS, DIAGNOSIS, COMPLICATIONS AND TREATMENT OF THE DISEASE

Introduction: Spinal muscular atrophy (SMA) is a complex neuromuscular disorder, it is the most usual autosomal recessively inherited lethal neuromuscular disease in pediatrics, it presents a defective alteration in the survival motor neuron 1 (SMN1) gene. Spinal muscular atrophy clinically shows progressive weakness of skeletal and respiratory muscles. In recent years, drugs with encouraging results from phase II and III clinical trials have been presented. Objective: to detail current information related to spinal muscular atrophy, clinical features, classification, natural history, genetics, diagnosis, complications and treatment of the disease. Methodology: a total of 40 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 31 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: spinal muscular atrophy, Spinal Muscular Atrophy, spinal muscular atrophy and spinal muscular atrophy. Results: About 95 % of the occurrences of spinal muscular atrophy are generated by homozygous deletions. Individuals with 5q mutation make up 95% of cases of spinal muscular atrophy and the remaining 5% are generated by mutations in 5q1-5. Targeted treatments may prevent or delay the progression of some symptoms of spinal muscular atrophy. Conclusions: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by muscle atrophy and weakness resulting from irreversible loss and progressive degeneration of the brainstem nuclei and anterior horn cells in the spinal cord (lower motor neurons). Clinically it presents with symmetrical proximal limb weakness that also impacts the axial muscles, intercostal and bulbar musculature and is progressive, and the classification protocol is important in genetics, as well as providing prognostic and clinical information. The natural history of the disease is variable and complicated. It is made by demonstrating a history of proximal muscle weakness, motor difficulties or regression, diminished or absent deep tendon reflexes. Among the most frequent complications in unsupported individuals are those previously mentioned such as poor weight gain with growth retardation, scoliosis, restrictive lung disease, joint contractures and sleep difficulties. In terms of treatment, several different compounds have been investigated in recent years, focused on increasing muscle strength and function. Proactive supportive treatment involving a multidisciplinary team is paramount to decrease the severity of symptoms. KEY WORDS: muscle atrophy, spine, spinal, spinal cord, motor neuron.

Exploring the effects of body weight support systems on lower limb kinematics and muscle characteristics

Bipedal gait is one of the most important forms of human movement. However, every year many people lose their ability to walk due to disease. Weight support systems that reduce or even eliminate the effect of upper body mass loading on the lower limbs are among the most commonly used devices in gait rehabilitation. The designed weight support system provides body support while innovatively proposing a torso motion assist function. In this paper, walking experiments were performed on normal healthy subjects under five different weight-supported conditions, and motor and surface electromyography (sEMG) signals of the lower limb muscles were collected and analyzed. The results showed a slight decrease in joint motion of the lower extremities in the reference (free walking) and weight-supported-only assisted conditions, while there was no change in the joint angle curve waveform. In contrast, there was a significant change in the joint angle waveform between weight support plus trunk transfer and free walking. Different muscles differ in the significance of feature changes under different auxiliary conditions. By studying the changes in motor and muscle activation levels in the human lower extremity under the weight support system, it can be used as an indicator to assess specific gait indicators and muscle activity during the rehabilitation of the lower extremity in rehabilitated patients.

The role of Gel-Ppy-modified nerve conduit on the repair of sciatic nerve defect in rat model.

The serious clinical challenge of peripheral nerve injury (PNI) is nerve regeneration. Nerve conduit represents a promising strategy to contribute to nerve regeneration by bridging injured nerve gaps. However, due to a unique microenvironment of nerve tissue, autologous nerves have not been substituted by nerve conduit. Nerve regeneration after nerve conduit implantation depends on many factors, such as conductivity and biocompatibility. Therefore, Gelatin (Gel) with biocompatibility and polypyrrole (Ppy) with conductivity is highly concerned. In this paper, Gel-Ppy modified nerve conduit was fabricated with great biocompatibility and conductivity to evaluate its properties of enhancing nerve regeneration in vivo and in vitro. The proliferation of Schwann cells on Gel-Ppy modified nerve conduit was remarkably increased. Consistent with in vitro results, the Gel-Ppy nerve conduit could contribute to the regeneration of Schwann cell in vivo. The axon diameters and myelin sheath thickness were also enhanced, resulting in the amelioration of muscle atrophy, nerve conduction, and motor function recovery. To explain this interesting phenomenon, western blot results indicated that the Gel-Ppy conduit facilitated nerve regeneration via upregulating the Rap1 pathway to induce neurite outgrowth. Therefore, the above results demonstrated that Gel-Ppy modified nerve conduit could provide an acceptable microenvironment for nerve regeneration and be popularized as a novel therapeutic strategy of PNI.

Associations between lower extremity muscle fat fraction and motor performance in myotonic dystrophy type 2: A pilot study.

Although muscle structure measures from magnetic resonance imaging (MRI) have been used to assess disease severity in muscular dystrophies, little is known about how these measures are affected in myotonic dystrophy type 2 (DM2). We aim to characterize lower extremity muscle fat fraction (MFF) as a potential biomarker of disease severity, and evaluate its relationship with motor performance in DM2. 3-Tesla MRIs were obtained from nine patients with DM2 and six controls using a T1W-Dixon protocol. To calculate MFF, muscle volumes were segmented from proximal, middle, and distal regions of the thigh and calf. Associations between MFF and motor performance were calculated using Spearman's correlations (ρ). Mean age of DM2 participants was 62 ± 11 y (89% female), and mean symptom duration was 20 ± 12 y. Compared to controls, the DM2 group had significantly higher MFF in the thigh and the calf segments (p-value = .002). The highest MFF at the thigh in DM2 was located in the posterior compartment (39.7 ± 12.9%) and at the calf was the lateral compartment (31.5 ± 8.7%). In the DM2 group, we found a strong correlation between the posterior thigh MFF and the 6-min walk test (ρ = -.90, p-value = .001). The lateral calf MFF was also strongly correlated with the step test (ρ = -0.82, p-value = .006). Our pilot data suggest a potential correlation between lower extremity MFF and some motor performance tests in DM2. Longitudinal studies with larger sample sizes are required to validate MFF as a marker of disease severity in DM2.

Effect of theraband exercises on muscle strength and motor development of individuals with moderate intellectual disability

Individuals with Moderate Intellectual Disability (MID) have lower levels of physical activity than typically developing peers. Considering the positive effects of physical activity on health, it is vital to identify effective exercise interventions for individuals with MID in everyday environments. The aim of our study was to examine the effects of theraband exercises on muscle strength and motor development of individuals with MID. A total of 16 individuals with MID were included in the study. Participants were divided into experimental and control group by random sampling method. Theraband exercise training was applied on the experimental group (60 min/2 days/10 weeks), but no exercise program was applied on the control group. When post-test results were evaluated between the groups, there was significant difference in favour of experimental group in terms of muscle strength and Bruininks-Oseretsky Test of Motor Proficiency- Second Version-Short Form (BOT-2-SF) total motor performance parameters (p < 0.05). The difference between pre-test and post-test values of total motor performance parameters of muscle strength and BOT-2 SF in experimental group were significant (p < 0.05). As a result, it was found that 10-week (60 min/2 days/10 weeks) theraband exercise positively affected the muscle strength and motor development of individuals with MID.

The Effects of Botulinum Toxin and Casting in Spastic Children With Cerebral Palsy: A Systematic Review and Meta-Analysis.

Cerebral palsy (CP) is a neurological disorder that affects muscle tone, movement, and motor skills in children. One of the most common symptoms of cerebral palsy is spasticity, which is characterised by involuntary muscle contractions and stiffness. Both botulinum toxin and casting have been used as standalone treatments for spasticity in cerebral palsy, but which is better is still unclear. The aim of the present meta-analysis was to compare the effects on spasticity of serial casting and/or botulinum toxin type A (BoNT-A) in conjunction with or as independent therapies. Studies up to February 2022 were identified in four separate databases. The inclusion criteria were randomised controlled trials (RCTs) that compared different therapies (Botulinum toxin A, or BoNT-A, and casting) and assessed spasticity improvement in children with spastic cerebral palsy who were younger than 18 years old and were published in English. With a 95% confidence interval (CI), the standardised mean difference (SMD) was utilised to calculate treatment effects. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 checklist was followed to undertake the current study. The search for relevant literature in four databases generated 147 results. After the abstract and full-text screening, five publications with a total of 190 cerebral palsy patients were included in this systematic review and meta-analysis. In patients with cerebral palsy, both methods - botulinum toxin and casting- apply globally; our systematic review tries to find out the most effective treatment between the two but does not show any significant difference in these methods. As we know, botulinum toxin is expensive, and the casting method is time-consuming and poorly accepted by patients. There is a need for an excellent study to examine the impact of casting and botulinum toxin type A.

Intramuscular IL-10 Administration Enhances the Activity of Myogenic Precursor Cells and Improves Motor Function in ALS Mouse Model.

Amyotrophic Lateral Sclerosis (ALS) is the most common adult motor neuron disease, with a poor prognosis, a highly unmet therapeutic need, and a burden on health care costs. Hitherto, strategies aimed at protecting motor neurons have missed or modestly delayed ALS due to a failure in countering the irreversible muscular atrophy. We recently provided direct evidence underlying the pivotal role of macrophages in preserving skeletal muscle mass. Based on these results, we explored whether the modulation of macrophage muscle response and the enhancement of satellite cell differentiation could effectively promote the generation of new myofibers and counteract muscle dysfunction in ALS mice. For this purpose, disease progression and the survival of SOD1G93A mice were evaluated following IL-10 injections in the hindlimb skeletal muscles. Thereafter, we used ex vivo methodologies and in vitro approaches on primary cells to assess the effect of the treatment on the main pathological signatures. We found that IL-10 improved the motor performance of ALS mice by enhancing satellite cells and the muscle pro-regenerative activity of macrophages. This resulted in delayed muscle atrophy and motor neuron loss. Our findings provide the basis for a suitable adjunct multisystem therapeutic approach that pinpoints a primary role of muscle pathology in ALS.

Morphological analysis of neck muscle nerves and neurons in cats

Previous studies have failed to show morphological differences between neck muscle alpha and gamma motor fibers or alpha and gamma motoneurons. The present study aimed to investigate the morphological features of neck muscle motor nerves and motoneurons in cats. To determine the morphological features of peripheral motor fibers, the value of the outer contours of each fiber was converted into a perfect circle after ganglionectomy to remove sensory fibers, and the fiber diameters were calculated based on their circumferences. The sizes of neck motor fibers in the peripheral nerves had an evident bimodal distribution into small and large fiber groups, as depicted in histograms. The sizes of small and large motor fibers ranged from 2 to 12 µm and from 12 to 40 µm, respectively. The small fiber group is likely to correspond to gamma motor fibers and the large fiber group to alpha motor fibers. The morphological features of neck muscle motoneurons sectioned in the horizontal plane were examined using the horseradish peroxidase (HRP) retrograde labeling technique. The diameters of the biventer cervicis and complexus motoneurons had bimodal distributions. The inflection point between the small and large diameter population was 28 µm for the biventer cervicis and 26 µm for the complexus. We also observed that larger neurons displayed more dendrites. In conclusion, we could identify morphological differences likely to correlate with alpha and gamma motoneurons in both neck muscle peripheral nerves and neck motoneurons.

The effect of socially evaluated multitasking stress on typing rhythms.

Individuals have unique typing rhythms characterized by specific keystroke dynamics. Changes in state and cardiovascular responding are well documented manifestations of the fight-flight response to stress. However, as stress also leads to changes in muscle tone and motor control, typing rhythms may also be impacted. We aim to determine which individuals are experiencing stress through their typing rhythms and identify universal keystroke markers of stress. Participants (N= 116) typed 80 repetitions of a 6-word, 30-character phrase before and after 15 min of critically evaluated multitasking stress. Cardiovascular, hemodynamic, and state variables were compared across baseline, stress, and recovery periods and measures of typing rhythm were derived for each period and classified using machine-learning algorithms. Critically evaluated multitasking led to significant changes in all stress measures, demonstrating highly robust stress reactivity. Machine learning algorithms accurately classified stressed typing for each individual based on their typing rhythms; however, no universal keystroke markers of stress were identified. Using typing rhythms. We were able to determine whether an individual was stressed or not, but the markers used for classification differed between individuals. These individual changes may provide opportunities for identifying stressful periods through keystroke monitoring, as well as the potential for early identification of disorders which may impact fine motor control. Typing rhythms could therefore be used to monitor health and well-being in individuals who use keyboards in various situations. This is the first rigorous assessment of stress and typing rhythms and has led to the development of a feasible and highly reproducible research protocol.

Guilu Erxian Jiao enhances protein synthesis, glucose homeostasis, mitochondrial biogenesis and slow-twitch fibers in the skeletal muscle.

Guilu Erxian Jiao (GEJ) is a commonly used nutritional supplement due to its rich content of amino acids. It is also a traditional herbal medicine for improving degenerative joint. This study aimed to investigate the effect and mechanism of GEJ water extract (GEJ-WE) on skeletal muscle in C2C12 myotubes and C57BL/6J mice. Analysis of GEJ-WE were performed by high-performance liquid chromatography fingerprinting with chemical standards. Protein expression, mRNA level, glycogen content, mitochondria activity and ATP level were evaluated by western blots, real-time PCR, PAS staining, MTT and ATP bioluminescence assay, respectively. Skeletal muscle strength was evaluated by grip strength. Skeletal muscle volume, mass and fiber types were evaluated by micro computed tomography, histological analysis and immunofluorescence staining, respectively. Motor function was evaluated by rotarod performance and locomotor activity. In C2C12 myotubes, GEJ-WE significantly enhanced myogenic differentiation and myotube growth, protein synthesis signaling IGF-1/IGF-1R/IRS-1/Akt, Glut4 translocation, glycogen content, mitochondrial biogenesis signaling PGC-1α/NRF1/TFAM, mitochondrial activity and ATP production. However, IGF-1R antagonist AG1024 and PI3K inhibitor wortmannin reduced GEJ-WE-induced protein expression of MyHC, p-Akt, p-mTOR and p-GSK-3β, Glut4 translocation and glycogen content. In C57BL/6J mice, GEJ-WE not only upregulated protein synthesis and mitochondrial biogenesis signaling, but it also increased muscle volume, relative muscle weight, cross-sectional area of myofibers, glycogen content and transition of fast-to-slow type fibers of skeletal muscles. Moreover, GEJ-WE enhanced grip strength and motor activity of mice. In conclusion, the upregulation of protein synthesis, myogenic differentiation, glucose homeostasis, mitochondrial biogenesis and slow-twitch fibers contributes to the mechanisms of GEJ-WE on the enhancement of skeletal muscle mass and motor function.

Clinical utilisation of multimodal quantitative magnetic resonance imaging in investigating muscular damage in Duchenne muscular dystrophy: a study on the association between gluteal muscle groups and motor function

BackgroundDuchennemuscular dystrophy (DMD) is a neuromuscular disease characterised by progressive muscular weakness and atrophy. Currently, studies on DMD muscle function mostly focus on individual muscles; little is known regarding the effect of gluteal muscle group damage on motor function.ObjectiveTo explore potential imaging biomarkers of hip and pelvic muscle groups for measuring muscular fat replacement and inflammatory oedema in DMD with multimodal quantitative magnetic resonance imaging (MRI).Materials and methodsOne hundred fifty-nine DMD boys and 32 healthy male controls were prospectively included. All subjects underwent MRI examination of the hip and pelvic muscles with T1 mapping, T2 mapping and Dixon sequences. Quantitatively measured parameters included longitudinal relaxation time (T1), transverse relaxation time (T2) and fat fraction. Investigations were all based on hip and pelvic muscle groups covering flexors, extensors, adductors and abductors. The North Star Ambulatory Assessment and stair climbing tests were used to measure motor function in DMD.ResultsT1 of the extensors (r = 0.720, P < 0.01), flexors (r = 0.558, P < 0.01) and abductors (r = 0.697, P < 0.001) were positively correlated with the North Star Ambulatory Assessment score. In contrast, T2 of the adductors (r = -0.711, P < 0.01) and fat fraction of the extensors (r = -0.753, P < 0.01) were negatively correlated with the North Star Ambulatory Assessment score. Among them, T1 of the abductors (b = 0.013, t = 2.052, P = 0.042), T2 of the adductors (b = -0.234, t = -2.554, P = 0.012) and fat fraction of the extensors (b = -0.637, t = − 4.096, P < 0.001) significantly affected the North Star Ambulatory Assessment score. Moreover, T1 of the abductors was highly predictive for identifying motor dysfunction in DMD, with an area under the curve of 0.925.ConclusionMagnetic resonance biomarkers of hip and pelvic muscle groups (particularly T1 values of the abductor muscles) have the potential to be used as independent risk factors for motor dysfunction in DMD.

Motor point heatmap of the calf

BackgroundContractions of muscles in the calf induced by neuromuscular electrical stimulation (NMES) may prevent venous thromboembolism, help rehabilitation and optimize strength training, among other uses. However, compliance to NMES-treatment is limited by the use of suboptimal stimulation points which may cause discomfort and less effectivity. Knowledge of where one is most likely to find muscle motor points (MP) could improve NMES comfort and compliance.AimsTo anatomically map the MPs of the calf as well as to calculate the probability of finding a MP in different areas of the calf.Material and methodsOn 30 healthy participants (mean age 37 years) anatomical landmarks on the lower limbs were defined. The location of the four most responsive MPs on respectively the medial and lateral head of gastrocnemius were determined in relation to these anatomical landmarks using a MP search pen and a pre-set MP search program with 3 Hz continuous stimulation (Search range:4.0–17.5 mA). The anatomy of the calves was normalized and subdivided into a matrix of 48 (6 × 8) smaller areas (3 × 3 cm), from upper medial to lower lateral, in order to calculate the probability of finding a MP in one of these areas. The probability of finding a MP was then calculated for each area and presented with a 95% confidence interval.ResultsThe MP heatmap displayed a higher concentration of MPs proximally and centrally on the calf. However, there were wide inter-individual differences in the location of the MPs. The highest probability of finding a MP was in area 4, located centrally and medially, and in area 29, located centrolaterally and around the maximum circumference, both with 50% probability (95% CI: 0.31–0.69). The second highest probability of finding MPs was in areas 9, 10, 16, proximally and medially, all with 47% probability (95% CI: 0.28–0.66). These areas 4, 9, 10, 16 and 29 exhibited significantly higher probability of finding motor points than all areas with a mean probability of 27% and lower (p < 0.05) The lateral and distal outskirts exhibited almost zero probability of finding MPs.ConclusionsThis MP heatmap of the calf could be used to expedite electrode placement and to improve compliance in order to receive consistent and enhanced results of NMES treatments.

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta." Here, we have investigated six patients from three different consanguineous Saudi families. The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development. Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI). One of the MRI findings was related to cortical thickening in the frontal lobe. To diagnose and study the genetic defects of the patients, whole exome sequencing (WES) coupled with confirmatory Sanger sequencing was utilized. Iterative filtering identified two variants of SLC13A5, one of which is novel, in the families. Families 1 and 2 had the same insertion (a previously reported mutation), leading to a frameshift and premature stop codon. The third family had a novel splice site variant. Confirmatory Sanger sequencing corroborated WES results and indicated full segregation of the variants in the corresponding families. The patients' conditions were poorly controlled by multiple antiepileptics as they needed constant care. Considering that recessive mutations are common in the Arab population, SLC13A5 screening should be prioritized in future patients harboring similar symptoms including defects in molar development.

Surface EMG decomposition based on innervation zone mapping and an LMMSE framework

Muscle motor units (MUs) can provide valuable information on neuromuscular control and muscle diseases, and electromyogram (EMG) decomposition is an effective method for reconstructing MUs. In this paper, a novel decomposition method based on innervation zone mapping (IZM) and a linear minimum mean square error estimation (LMMSE) framework is proposed for high-density surface EMG (HD-sEMG) decomposition. First, initial discharges were selected according to the IZM at each discharge. Then, the LMMSE framework and multistep iterative process were employed to update and estimate the innervation pulse train (IPT). Each discharge in the IPT was then classified into an individual MU action potential train (MUAPT) according to the IZM at each discharge. Finally, the MUAPTs with the same IZMs at the initial discharge were merged. The method based on the IZM and the LMMSE framework (IZM-LMMSE) was validated on both simulated and experimental data. By comparing the decomposition results of IZM-LMMSE and K-means clustering-modified CKC (KmCKC), the IZM-LMMSE algorithm can obtain more MUs and higher accuracy in most cases. Moreover, the experimental results show that the ratio of all common discharges obtained by IZM-LMMSE and KmCKC is 0.94 ± 0.01 % (mean ± std), which proves the effectiveness of the IZM-LMMSE method. The decomposition method has wide application prospects in rehabilitation engineering and clinical diagnosis.

Comparison between pericapsular nerve group block and fascia iliaca compartment block for perioperative pain control in hip surgeries: A meta-analysis from randomized controlled trials

ABSTRACT Background To alleviate pain related to hip surgeries, pericapsular nerve group block (PENG) is introduced as an innovative approach aims to improve analgesia without interfering with muscle motor activity. In this study, we compared the effectiveness and safety of PENG block to fascia iliaca compartment block (FICB) for managing acute pain related to hip operations. Methods Systematically looking through electronic databases, we only included randomized controlled trials (RCTs) involving hip surgeries. The perioperative pain scores at various time periods, postoperative narcotic demands in 24 h, the time of first opioid request, quality of patient positioning during spinal anesthesia (SA), patients’ satisfaction, and adverse event incidence between the two groups were obtained through the study. Results The analysis included nine RCTs with a total of 524 patients. Compared to the FICB, PENG significantly reduced the pain scores early at 30 min post-block during positioning for SA (SMD = −0.98, 95% CI: −1.76 to −0.20, P = 0.01), improved the quality of positioning, and enhanced patient satisfaction. However, no significant differences were observed between PENG and FICB regarding pain scores postoperatively at different time periods during rest and exercise. Patients in the FICB group had more narcotic demands at 24 h post-surgical (MD = −8.09, 95% CI: −14.25 to −1.93, P = 0.01). Otherwise, no differences were detected regarding the time of first opioid request, postoperative complications, or length of hospitalization. Conclusions PENG offered better benefits in terms of reducing pain, while the patient is being positioned for SA and minimizing narcotic consumption over the first 24 hours following hip surgeries.

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2). In Cohort 1, median CMAP amplitudes showed the best improvement between baseline and the 12 months visit compared to the other tested nerves (ulnar, fibular and tibial). High median CMAP amplitudes at baseline was associated with unaided sitting achievement at M6 (AUC 90%). None of the patients with CHOPINTEND at M0 < 30/64 and median CMAP < 0.5 mV achieved unaided sitting at M6 and this result was confirmed on Cohort 2 used as an independent validation data. Thus, median CMAP amplitude is a valid biomarker for routine practice to predict sitting at M6. A median CMAP amplitude over 0.5 mV at baseline may predict better motor recovery.