Search Results (2,621)

Background and Objectives: Metabolic and bariatric surgery (MBS) is practiced worldwide. Sugammadex was proven to have multiple benefits in reversing neuromuscular blockade (NMB) for patients with obesity undergoing MBS, but its effects on complications of various systems are not clear and concrete. Materials and Methods: This systematic review and meta-analysis was conducted as per the PRISMA guidelines and registered on the PROSPERO database (CRD42023491171). A systematic search was conducted in multiple databases for studies comparing sugammadex with neostigmine in MBS. Continuous data are reported as mean differences (MDs) and 95% confidence intervals (CIs). Dichotomous data are reported as relative risks (RRs) and 95% CIs. A two-sided p < 0.05 was considered statistically significant. Trial sequential analysis (TSA) was performed to evaluate the reliability of the conclusions. Results: Nine studies with 633 patients met the inclusion criteria. Compared with those from the neostigmine group, patients from the sugammadex group were characterized by a significantly shorter recovery time from the administration of the study drug to a train-of-four (TOF) ratio of ≥ 90% (MD [95% CI]: −15.40 [−26.64; −4.15]; I² = 96.6%; p = 0.0073; n = 380; random effects model), a lower risk of postoperative residual curarization (PORC) (RR [95% CI]: 0.18 [0.09; 0.38]; p < 0.0001; I² = 27.9%; n = 344; common effect model), postoperative nausea and vomiting (PONV) (RR [95% CI]: 0.67 [0.48; 0.93]; p = 0.0164; I² = 0%; n = 335; common effect model), and cardiovascular complications (RR [95% CI]: 0.48 [0.26; 0.88]; p = 0.0186; I² = 14.7%; n = 178; common effect model). TSA confirmed the conclusions regarding the recovery time and PORC risk. Conclusions: In conclusion, our systemic review and meta-analysis with TSA revealed that sugammadex provided a faster and more reliable choice to reverse NMB in patients with obesity undergoing MBS, with a lower risk of PORC. Sugammadex reduced the risk of cardiovascular complications and postoperative nausea and vomiting. However, the conclusions were not confirmed, and, so, further studies may be necessary. Full article

Background/Objectives: Congenital myasthenic syndromes (CMSs) are caused by variants in >30 genes with increasing numbers of variants of unknown significance (VUS) discovered by next-generation sequencing. Establishing VUS pathogenicity requires in vitro studies that slow diagnosis and treatment initiation. The recently developed protein structure prediction software AlphaFold2/ColabFold has revolutionized structural biology; such predictions have also been leveraged in AlphaMissense, which predicts ClinVar variant pathogenicity with 90% accuracy. Few reports, however, have tested these tools on rigorously characterized clinical data. We therefore assessed ColabFold and AlphaMissense as diagnostic aids for CMSs, using variants of the CHRN genes that encode the nicotinic acetylcholine receptor (nAChR). Methods: Utilizing a dataset of 61 clinically validated CHRN variants, (1) we evaluated the possibility of a ColabFold metric (either predicted structural disruption, prediction confidence, or prediction quality) that distinguishes variant pathogenicity; (2) we assessed AlphaMissense’s ability to differentiate variant pathogenicity; and (3) we compared AlphaMissense to the existing pathogenicity prediction programs AlamutVP and EVE. Results: Analyzing the variant effects on ColabFold CHRN structure prediction, prediction confidence, and prediction quality did not yield any reliable pathogenicity indicative metric. However, AlphaMissense predicted variant pathogenicity with 63.93% accuracy in our dataset—a much greater proportion than AlamutVP (27.87%) and EVE (28.33%). Conclusions: Emerging in silico tools can revolutionize genetic disease diagnosis—however, improvement, refinement, and clinical validation are imperative prior to practical acquisition. Full article

Human vocalization is a complex process that is still only partially understood. Previous studies have suggested the possibility of a localized neuromuscular network of the larynx. Here we investigate this structure in human dissection specimens using multiple immunofluorescence and transmission electron microscopy (TEM). In the area of the pars interna of the thyroarytenoid muscle, muscle fibers are present that are clearly differentiated from skeletal or cardiac muscle cells and show an intermediate ultrastructure. In addition, intramuscular neurons are present that are detectable by both electron and fluorescence microscopy and may have a sensory function in a local neuronal network. Also, several types of sensory and motor synapses are detectable and distributed throughout the pars interna of the thyroarytenoid muscle, with multisynaptic muscle fibers being a common feature. These findings suggest the existence of a previously unrecognized type of muscle fiber coupled to an intramuscular neuronal network, the presence of which could explain functional peculiarities at the laryngeal level. Full article

The purpose of this study was to examine the impact of a sensorimotor training program on maximum ankle dorsiflexion (ankle DF), coordination, dynamic balance and postural control, and lower-limb muscle power, in competitive junior surfers, and its relation to parameters of sensorimotor control required to perform aerial maneuvers. Twelve junior competitive surfers followed a 7-week sensorimotor training program, being assessed pre- and post-program with the knee-to-wall test (KW), Y-Balance test—lower quarter (YBT-LQ), and the countermovement jump test (CMJ). Post-training assessment revealed positive effects on the KW (ankle DF) distance, which increased approximately 2 cm (p < 0.001) for both ankles, and all scores for the YTB-LQ (coordination, dynamic balance, and postural control) variables increased, being significant (p < 0.005) for some reach distances (YBT-LQ—Anterior Left, YBT-LQ—Postero-medial Left, and YTB-LQ Anterior Right). YBT-LQ Anterior Reach Asymmetry also improved by decreasing 1.62 cm (p < 0.001) and the CMJ height (lower limb muscle power) increased 2.89 cm (p < 0.001). The training program proved to effectively enhance parameters of physical performance for this sample, including ankle DF, coordination, dynamic balance, postural control, and lower limb muscle power. This tailored-made task approach can help to optimize surfing performance capabilities and contribute to reducing the risk of injuries while performing aerials. Full article

Background/Objectives: Individuals with post-COVID-19 conditions risk developing short- and/or long-term neuromuscular impairments, including postural imbalance. However, there is limited evidence showing whether balance deficits are associated with declines in the functional status in post-COVID-19 individuals. This study examined postural balance in non-hospitalized post-COVID-19 individuals using different assessment tools and tested the most relevant balance tools in predicting functional status. Methods: This cross-sectional study enrolled 60 adults split into control (n = 30) and post-COVID-19 (n = 30) groups. Postural balance was assessed in both groups using the Functional Reach Test (FRT), Berg Balance Scale (BBS), Timed Up and Go (TUG), Tinetti Balance Test (Tinetti), and Mini-BESTest (MBT). Functional status in the post-COVID-19 group was assessed using post-COVID-19 functional status (PCFS). Results: Significant differences in postural stability between groups were found only for the FRT. All balance tests showed a statistically significant correlation with PCFS in the post-COVID-19 group, with better performance in all tests being associated with better functional status: Tinetti (r = −0.584), FRT (r = −0.542), MBT (r = −0.530), BBS (r = −0.415) and TUG (r = 0.368). Tinetti was the independent variable that significantly played an important role in determining PCFS (adjusted R² = 0.318, p < 0.001). Conclusions: Post-COVID-19 functional status is best determined by the Tinetti Balance Test, making it an effective tool for assessing postural balance deficits in this population, with potential implications for postural control assessment and rehabilitation. Full article

GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/N-acetylmannosamine kinase (ManNAc kinase) gene (GNE), clinically resulting in the loss of ambulation within 10–20 years from the onset of the initial symptoms. The disease’s mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development. Based on the available evidence, we employed a lipidomic approach to study the serum lipid profile of GNE patients. The multivariate statistical analysis revealed a downregulation of carnitines, as well as of lysophosphatidylcholines, in sera samples derived from GNEM patients. Furthermore, we identified lower levels of sphingomyelins and, concomitantly, high levels of ceramides in serum samples from GNEM patients when compared to control samples derived from healthy donors. Moreover, the GNEM serum samples showed the upregulation of Krebs cycle intermediates, in addition to a decrease in oxaloacetic acid. The correlated data gathered in this study can offer a promising diagnostic panel of complex lipids and polar metabolites that can be used in clinic for GNEM in terms of a metabolic fingerprint measurable in a minimally invasive manner. Full article

The intricate relationship between hydrogen sulfide (H₂S), gut microbiota, and sirtuins (SIRTs) can be seen as a paradigm axis in maintaining cellular homeostasis, modulating oxidative stress, and promoting mitochondrial health, which together play a pivotal role in aging and neurodegenerative diseases. H₂S, a gasotransmitter synthesized endogenously and by specific gut microbiota, acts as a potent modulator of mitochondrial function and oxidative stress, protecting against cellular damage. Through sulfate-reducing bacteria, gut microbiota influences systemic H₂S levels, creating a link between gut health and metabolic processes. Dysbiosis, or an imbalance in microbial populations, can alter H₂S production, impair mitochondrial function, increase oxidative stress, and heighten inflammation, all contributing factors in neurodegenerative diseases such as Alzheimer’s and Parkinson’s. Sirtuins, particularly SIRT1 and SIRT3, are NAD⁺-dependent deacetylases that regulate mitochondrial biogenesis, antioxidant defense, and inflammation. H₂S enhances sirtuin activity through post-translational modifications, such as sulfhydration, which activate sirtuin pathways essential for mitigating oxidative damage, reducing inflammation, and promoting cellular longevity. SIRT1, for example, deacetylates NF-κB, reducing pro-inflammatory cytokine expression, while SIRT3 modulates key mitochondrial enzymes to improve energy metabolism and detoxify reactive oxygen species (ROS). This synergy between H₂S and sirtuins is profoundly influenced by the gut microbiota, which modulates systemic H₂S levels and, in turn, impacts sirtuin activation. The gut microbiota–H₂S–sirtuin axis is also essential in regulating neuroinflammation, which plays a central role in the pathogenesis of neurodegenerative diseases. Pharmacological interventions, including H₂S donors and sirtuin-activating compounds (STACs), promise to improve these pathways synergistically, providing a novel therapeutic approach for neurodegenerative conditions. This suggests that maintaining gut microbiota diversity and promoting optimal H₂S levels can have far-reaching effects on brain health. Full article

Duchenne muscular dystrophy (DMD) is a degenerative neuromuscular disease caused by a lack of functional dystrophin. Ang 1 paracrine signalling maintains the endothelial barrier of blood vessels, preventing plasma leakage. Chronic inflammation, a consequence of DMD, causes endothelial barrier dysfunction in skeletal muscle. We aim to elucidate changes in the DMD mouse’s gastrocnemius microvascular niche following local administration of Ang 1. Gastrocnemii were collected from eight-week-old mdx/utrn+/− and healthy mice. Additional DMD cohort received an intramuscular injection of Ang 1 to gastrocnemius and contralateral control. Gastrocnemii were collected for analysis after two weeks. Using immunohistochemistry and real-time quantitative reverse transcription, we demonstrated an abundance of endothelial cells in DMD mouse’s gastrocnemius, but morphology and gene expression were altered. Myofiber perimeters were shorter in DMD mice. Following Ang 1 treatment, fewer endothelial cells were present, and microvessels were more circular. Vegfr1, Vegfr2, and Vegfa expression in Ang 1-treated gastronemii increased, while myofiber size distribution was consistent with vehicle-only gastrocnemii. These results suggest robust angiogenesis in DMD mice, but essential genes were underexpressed—furthermore, exogenous Ang 1 attenuated angiogenesis. Consequentially, gene expression increased. The impact must be investigated further, as Ang 1 therapy may be pivotal in restoring the skeletal muscle microvascular niche. Full article

Background and Objectives: It is known that critical illness and associated neuromuscular problems begin to appear in patients hospitalized in the intensive care unit (ICU) for more than a week. The goal of this study was to research the role of hydroxychloroquine (HCQ) in the treatment of cytokine storm and critical illness neuromyopathy (CINM) in a rat sepsis model. Materials and Methods: Rats were assigned into three groups, and a feces intraperitoneal-injection group (FIP) procedure was carried out on 30 rats to induce a model of sepsis for critical illness polyneuromyopathy (CINM). The study groups were as follows: Group 1: control (nonoperative and orally fed control, n = 10), Group 2: FIP with 0.9% NaCl saline was given as 1 mL/kg/day by oral gavage (n = 10), and Group 3: FIP with 10 mg/kg/day of hydroxychloroquine (Plaquenil 200 mg) administered by oral gavage (n = 10). Electrophysiological recordings (EMG) were conducted six days after surgery. EMG was carried out three times on the right sciatic nerve, which was stimulated with supramaximal intensity utilizing a bipolar needle electrode at the sciatic notch. Tumor necrosis factor-alpha (TNF-α), malondialdehyde (MDA), lactic acid levels, and interleukin-6 (IL-6) were evaluated. Results: In terms of TNF-α, MDA, lactic acid levels, and IL-6, there was a statistically significant decrease in the CINM + 10 mg/kg HCQ group compared to the CINM and saline group (p < 0.0001, p < 0.05, p < 0.05, and p < 0.05, respectively). Compound muscle action potentials (CMAPs) latency and duration were decreased in the CINM + 10 mg/kg HCQ group compared to other groups (p < 0.01 and p < 0.001). However, CMAP amplitude was significantly higher in the CINM + 10 mg/kg HCQ group unlike the CINM and saline group (p < 0.001). Conclusions: This is the first study to demonstrate the effects of HCQ on CINM in a rat model of sepsis. The findings of our research suggest that hydroxychloroquine may be used as a potential therapeutic agent in the treatment of sepsis. Hydroxychloroquine may have an important effect in the pathogenesis of sepsis-associated CINM by reducing cytokine production and oxidative stress. Full article

The use of wearable assistive devices is growing in both industrial and medical fields. Combining human expertise and artificial intelligence (AI), e.g., in human-in-the-loop-optimization, is gaining popularity for adapting assistance to individuals. Amidst prevailing assertions that AI could surpass human capabilities in customizing every facet of support for human needs, our study serves as an initial step towards such claims within the context of human walking assistance. We investigated the efficacy of the Biarticular Thigh Exosuit, a device designed to aid human locomotion by mimicking the action of the hamstrings and rectus femoris muscles using Serial Elastic Actuators. Two control strategies were tested: an empirical controller based on human gait knowledge and empirical data and a control optimized using Reinforcement Learning (RL) on a neuromuscular model. The performance results of these controllers were assessed by comparing muscle activation in two assisted and two unassisted walking modes. Results showed that both controllers reduced hamstring muscle activation and improved the preferred walking speed, with the empirical controller also decreasing gastrocnemius muscle activity. However, the RL-based controller increased muscle activity in the vastus and rectus femoris, indicating that RL-based enhancements may not always improve assistance without solid empirical support. Full article

Background/Objectives: This study aimed to evaluate the effects of an 8-week combined plyometric and resistance training program on the physical fitness (PF) of adolescent girls aged 12 to 15 years. The objective was to determine whether combined training (CT) would yield greater improvements in performance measures compared to resistance training (RT) alone. Methods: Forty-seven adolescent girls were randomly assigned to either the CT group or the RT group. Performance measures such as the 20 m sprint, squat jump, vertical jump, handgrip strength, and flexibility (sit and reach test) were assessed before and after the 8-week intervention. Changes in these measures were analyzed to compare the effects of the two training approaches. Results: The CT group showed a significant reduction in sprint time (−6.5%) compared to the RT group (−4.1%), although the difference was not statistically significant. Squat jump height improved significantly by 5.6% in the CT group compared to 1.1% in the RT group (p < 0.05). Similarly, vertical jump height increased by 6.7% in the CT group and by 2.4% in the RT group (p < 0.05). Handgrip strength improved by 7.5% in the CT group and 4.6% in the RT group, with no significant differences between the groups. Flexibility showed slight, non-significant improvements in both groups. Conclusions: The findings suggest that a combined plyometric and RT program is more effective in enhancing explosive power, specifically squat and vertical jump performance, in adolescent girls compared to RT alone. These results highlight the potential of CT programs for improving overall physical performance in this population. Full article

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients’ quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot–Marie–Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb–Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn. Full article

In the frame of the I-MOVE-COVID-19 project, a cohort of 2050 patients admitted in two Spanish reference hospitals between March 2020 and December 2021 was selected and a range of clinical factor data were collected at admission to assess their impact on the risk COVID-19 severity outcomes through a multivariate adjusted analysis and nomograms. The need for ventilation and intensive care unit (ICU) admission were found to be directly associated with a higher death risk (OR 6.9 and 3.2, respectively). The clinical predictors of death were the need for ventilation and ICU, advanced age, neuromuscular disorders, thrombocytopenia, hypoalbuminemia, dementia, cancer, elevated creatin phosphokinase (CPK), and neutrophilia (OR between 1.8 and 3.5), whilst the presence of vomiting, sore throat, and cough diminished the risk of death (OR 0.5, 0.2, and 0.1, respectively). Admission to ICU was predicted by the need for ventilation, abdominal pain, and elevated lactate dehydrogenase (LDH) (OR 371.0, 3.6, and 2.2, respectively) as risk factors; otherwise, it was prevented by advanced age (OR 0.5). In turn, the need for ventilation was predicted by low oxygen saturation, elevated LDH and CPK, diabetes, neutrophilia, obesity, and elevated GGT (OR between 1.7 and 5.2), whilst it was prevented by hypertension (OR 0.5). These findings could enhance patient management and strategic interventions to combat COVID-19. Full article

Introduction: Hormone replacement therapy (HRT) prevents muscle loss associated with menopause; however, the relative role of the neuromuscular junction (NMJ) in post-menopausal women taking HRT is poorly known. We investigate the effects of HRT on plasma C-terminal agrin-fragment-22 (CAF22) in post-menopausal women taking HRT. Methods: We recruited three groups of women, including pre-menopausal (age = 45.3 ± 3.1 years, n = 48) post-menopausal HRT-users (age = 56.7 ± 4.1 years, n = 42) and non-users (age = 55.4 ± 3.9 years, n = 47) for measurements of handgrip strength (HGS), skeletal muscle mass index (SMI), short physical performance battery (SPPB; marker of physical capacity), and plasma CAF22 levels. Results: Post-menopausal non-users of HRT had lower HGS, SMI, gait speed, and SPPB scores and higher plasma CAF22 levels than pre-menopausal women (all p < 0.05). Conversely, HRT users had higher HGS and gait speed and lower plasma CAF22 than non-users among post-menopausal women. HRT users also exhibited SPPB scores similar to those of pre-menopausal women. We observed significant correlations of plasma CAF22 with HGS, gait speed, and total SPPB scores in pre-menopausal and post-menopausal women with HRT (ALL p < 0.05). Lastly, HRT users had lower markers of inflammation and oxidative stress than non-users among post-menopausal women (both p < 0.05). Conclusion: Altogether, menopause was associated with elevated markers of NMJ degradation along with reduced muscle strength and physical capacity. HRT partly reduced NMJ degradation and restored muscle strength and physical capacity in post-menopausal women. Full article

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an approved treatment for all forms of the disease. Previously, biomarkers were primarily used for diagnostic purposes, such as detecting the presence of the disease or determining a specific clinical type of SMA. Currently, with the availability of therapy, biomarkers have become more valuable due to their potential for prognostic, predictive, and pharmacodynamic applications. This review describes the most promising physiological, functional, imaging and molecular biomarkers for SMA, derived from different patients’ tissues. The review summarizes information about classical biomarkers that are already used in clinical practice as well as fresh findings on promising biomarkers that have been recently disclosed. It highlights the usefulness, limitations, and strengths of each potential biomarker, indicating the purposes for which each is best suited and when combining them may be most beneficial. Full article