BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,...BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.展开更多
OBJECTIVE:To explore the potential molecular mechanism of Qigu capsule(芪骨胶囊,QGC)improve the functional performance of skeletal muscle.METHODS:The primary components of QGC were analyzed using high-performance liqu...OBJECTIVE:To explore the potential molecular mechanism of Qigu capsule(芪骨胶囊,QGC)improve the functional performance of skeletal muscle.METHODS:The primary components of QGC were analyzed using high-performance liquid chromatography(HPLC).Muscle dysfunction was established in male C57BL/6 mice treated with dexamethasone(1 mg/kg body weight,i.p.,six weeks).Rotarod test,mitochondrial ultrastructure,respiratory chain complex V activity,succinate dehydrogenase(SDH)activity,adenosine triphosphate(ATP)content,and reactive oxygen species(ROS)levels were assessed.The mitochondrial biogenesis-related protein expressions were analyzed using Western blot or polymerase chain reaction(PCR).RESULTS:QGC treatment enhanced Rotarod test performance.Additionally,QGC significantly alleviated dexamethasone-induced mitochondrial damage,reduced mitochondrial swelling,increased respiratory chain complex enzyme activity,SDH activity,ATP content,and decreased ROS levels.PCR and western blot results revealed that QGC enhanced mitochondrial biogenesis via adenosine 5'-monophosphate-activated protein kinase(AMPK)/peroxisome proliferator-activated receptor-γcoactivator 1-alpha(PGC-1α)signaling pathway.CONCLUSIONS:QGC ameliorates dexamethasoneinduced skeletal muscle dysfunction by activating AMPK/PGC-1α,which might be developed as a therapeutic agent for treating age-related muscle weakness.展开更多
Intensive care unit(ICU)acquired sarcopenia and myosteatosis are increasingly recognized complications of critical illness,characterized by a rapid loss of ske-letal muscle mass,quality,and function.These conditions r...Intensive care unit(ICU)acquired sarcopenia and myosteatosis are increasingly recognized complications of critical illness,characterized by a rapid loss of ske-letal muscle mass,quality,and function.These conditions result from a complex interplay of systemic inflammation,immobilization,catabolic stress,mitochon-drial dysfunction,and immune dysregulation,often culminating in impaired recovery,prolonged hospitalization,and increased long-term mortality.First identified in survivors of sepsis and prolonged mechanical ventilation,these muscle abnormalities were initially described using computed tomography-based assessments of muscle area and density.Subsequent advances in imaging,biomarker discovery,and functional testing have enabled earlier detection and risk stratification across diverse ICU populations.While nutritional optimization and early mobilization form the cornerstone of current prevention and treatment strategies,the emergence of novel approaches,including automated artificial intelligence-based screening,neuromuscular electrical stimulation,and targeted pharmacologic therapies,has broadened the clinical scope of interventions.Despite their significant prognostic implications,ICU-acquired sarcopenia and myosteatosis remain under-recognized in routine critical care practice.This mini-review aims to synthesize current knowledge regarding their pathophysiology,available diagnostic modalities,prognostic relevance,and the evolving landscape of therapeutic strategies for long-term functional recovery in critically ill patients.展开更多
This retrospective case study investigates the clinical presentation of a 53-year-old female who underwent mantle field radiotherapy roughly 26 years ago. This patient presents with diffuse muscle atrophy and weakness...This retrospective case study investigates the clinical presentation of a 53-year-old female who underwent mantle field radiotherapy roughly 26 years ago. This patient presents with diffuse muscle atrophy and weakness in the cervical musculature, as well as sensory deficits in the upper extremities. We sought to compare our patient’s symptoms with other patients who had been formally diagnosed with Dropped Head Syndrome (DHS) by reviewing the existing literature. We found that the clinical presentation under investigation was consistent with other patients who had received radiotherapy for Hodgkins’s disease and were then diagnosed with DHS. Electromyography (EMG), nerve conduction studies, and a cervical MRI were unable to identify a separate neurological cause for the symptoms, but the MRI did confirm the presence of diffuse muscle atrophy in the cervical musculature. After reviewing the existing literature and imaging results, we compared our patient’s symptoms to those that define DHS, and both the time of onset, presenting symptoms, and progressing course are consistent with a diagnosis of Dropped Head Syndrome.展开更多
Intensive care unit-acquired weakness(ICU-AW)is a common complication in critically ill patients and is associated with a variety of adverse outcomes.These include the need for prolonged mechanical ventilation and ICU...Intensive care unit-acquired weakness(ICU-AW)is a common complication in critically ill patients and is associated with a variety of adverse outcomes.These include the need for prolonged mechanical ventilation and ICU stay;higher ICU,in-hospital,and 1-year mortality;and increased in-hospital costs.ICU-AW is associated with multiple risk factors including age,underlying disease,severity of illness,organ failure,sepsis,immobilization,receipt of mechanical ventilation,and other factors related to critical care.The pathological mechanism of ICUAW remains unclear and may be considerably varied.This review aimed to evaluate recent insights into ICU-AW from several aspects including risk factors,pathophysiology,diagnosis,and treatment strategies;this provides new perspectives for future research.展开更多
Background: Cerebral palsy is a group of disorders arising from a static damage or brain development defects occurring during fetal life and in the first months of life. Methods: The sample consisted of 800 individual...Background: Cerebral palsy is a group of disorders arising from a static damage or brain development defects occurring during fetal life and in the first months of life. Methods: The sample consisted of 800 individuals living in 50 districts of the city of Maceio. A standardized questionnaire was applied. Results: The prevalence of cerebral palsy in the sample was 5/1000. All were born at term, 75% were male, 50% had severe cerebral palsy and 50% was moderate. 75% had quadriplegia and 25% had diplegia. Fifty percent of the cerebral palsy was caused by meningitis and 50% for prolonged labor. Conclusions: The prevalence of cerebral palsy in Maceió is 140.38% higher than the highest prevalence found in developed countries, predominantly in low-income and related to postnatal infection in families.展开更多
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing...We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.展开更多
Post-polio syndrome(PPS)is a neurologic disorder characterized by an accumulation of symptoms,most often muscle weakness,fatigue,and pain,decades after the initial polio.Diagnosis of PPS is based on the presence of a ...Post-polio syndrome(PPS)is a neurologic disorder characterized by an accumulation of symptoms,most often muscle weakness,fatigue,and pain,decades after the initial polio.Diagnosis of PPS is based on the presence of a lower motor neuron disorder which is supported by neuro-physiological findings,as well as exclusion of other disorders as causes of new symptoms.The pathogenesis of PPS is still disputed.Rehabilitation for patients with PPS should take a comprehensive approach.Evaluation of the need for orthoses is often required.展开更多
Intensive care units’ acquired muscle weakness is present in approximately 50% of the patients. Although active muscle training can attenuate weakness, a large proportion of critical patients cannot participate in an...Intensive care units’ acquired muscle weakness is present in approximately 50% of the patients. Although active muscle training can attenuate weakness, a large proportion of critical patients cannot participate in any active mobilization. Neuromuscular electrical stimulation may be an alternative strategy to reverse muscle weakness. The objective of the study was to review the scientific publications on the use of neuromuscular electrical stimulation and its parameters and the main results in patients hospitalized in intensive care units. This is an integrative review surveying studies in online databases. The studies were selected from the following descriptors: neuromuscular electrical stimulation AND parameters AND intensive care units AND muscle weakness. The inclusion criteria included articles that addressed the topic of neuromuscular electrical stimulation and the parameters used in patients admitted to intensive care units, aged 18 years or older. Exclusion criteria were studies involving animals, case reports, letters to the editor and book chapters. The search comprised articles in the Portuguese, English and Spanish languages from January 2013 to March 2019. Of the 185 articles identified, nine met the eligibility criteria. The studies were evaluated assessing the level of evidence, and the relevant information was presented in the table and discussed. The parameters of the neuromuscular electrical stimulation employed in the studies showed positive results for the maintenance of strength and muscle mass. There was evidence of benefits in the local and systemic microcirculation, potentially mobilizing endothelial stem cells, to prevent atrophy, to reduce mechanical ventilation time and stay in intensive care unit;and when incorporated into the usual physiotherapy care, proved to be more effective than usual care. Its use is safe and viable in critically ill patients.展开更多
To the Editor,Immune-mediated necrotizing myopathy(IMNM)is a type of inflammatory myopathy subdivided into three major subtypes:anti-signal recognition particle(anti-SRP)IMNM,anti-3-hydroxy-3-methylglutaryl coenzyme A...To the Editor,Immune-mediated necrotizing myopathy(IMNM)is a type of inflammatory myopathy subdivided into three major subtypes:anti-signal recognition particle(anti-SRP)IMNM,anti-3-hydroxy-3-methylglutaryl coenzyme A reductase(anti-HMGCR)IMNM,and seronegative IMNM,which accounts for 10%–20%of cases.Patients usually present with subacute symmetrical muscle weakness,usually involving the proximal and pharyngeal muscles with sig-nificantly elevated creatinine kinase levels.Associated symptoms include myalgia,fatigue,and weight loss.^(1,2)Anti-SRP IMNM usually presents with a more fulminant course,with early dysphagia and possible respiratory failure,while this is rarer in anti-HMGCR and seronegative IMNM.Notably,seronegative IMNM is linked to malignancy,resulting in decreased survival.^(3)展开更多
Juvenile dermatomyositis(JDM)is a chronic pediatric autoimmune disease characterized by proximal muscle weakness and distinctive skin manifestations[1,2].The first-line treatment for JDM involves the combination of gl...Juvenile dermatomyositis(JDM)is a chronic pediatric autoimmune disease characterized by proximal muscle weakness and distinctive skin manifestations[1,2].The first-line treatment for JDM involves the combination of glucocorticoids with either methotrexate(MTX)or cyclosporine[3,4].For severe and refractory juvenile dermatomyositis,options such as tacrolimus.展开更多
This study presents a novel compound muscle action potential(CMAP)examination of motor unit changes in paretic muscle post stroke.CMAP scan of the first dorsal interosseous(FDI)muscle was performed bilaterally in 16 c...This study presents a novel compound muscle action potential(CMAP)examination of motor unit changes in paretic muscle post stroke.CMAP scan of the first dorsal interosseous(FDI)muscle was performed bilaterally in 16 chronic stroke subjects.Various parameters were derived from the CMAP scan to examine paretic muscle changes,including CMAP amplitude,D50,step index(STEPIX)and amplitude index(AMPIX).A significant decrease in CMAP amplitude and STEPIX was observed in paretic muscles compared with contralateral muscles(CMAP amplitude:paretic(9.0±0.5)mV,contralateral(11.3±0.9)mV,P=0.024;STEPIX:paretic 101.2±7.6,contralateral 121.9±6.5,P=0.020).No significant difference in D50 and AMPIX was observed between the paretic and contralateral sides(P>0.05).The findings revealed complex paretic muscle changes including motor unit degeneration,muscle fiber denervation,reinnervation and atrophy,providing useful insights to help understand neuromuscular mechanisms associated with weakness and other functional deterioration post stroke.The CMAP scan experimental protocols and the applied processing methods are noninvasive,convenient,and automated,offering practical benefits for clinical application.展开更多
For people with lower limb muscle weakness,effective and timely rehabilitation intervention is essential for assisting in daily walking and facilitating recovery.Numerous studies have been conducted on rehabilitation ...For people with lower limb muscle weakness,effective and timely rehabilitation intervention is essential for assisting in daily walking and facilitating recovery.Numerous studies have been conducted on rehabilitation robots;however,some critical issues in the field of human-following remain unaddressed.These include potential challenges related to the loss of sensory signals for intention recognition and the complexities associated with maintaining the relative pose of robots during the following process.A human-following surveillance robot is introduced as the basis of the research.To address potential interruptions in motion signals,such as data transmission blockages or body occlusion,we propose a human walking intention estimation algorithm based on set-membership filtering with incomplete observation.To ensure uninterrupted user walking and maintain an effective aid and detection range,we propose a human-following control algorithm based on prescribed performance.The experiment verifies the effectiveness of the proposed methods.The proposed intention estimation algorithm achieves continuous and accurate intention recognition under incomplete observation.The control algorithm presented in this paper achieves constrained robot following with respect to the relative pose.展开更多
基金Supported by Jinan Science and Technology Project,No.201805014。
文摘BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.
基金Supported by Shanghai Clinical Research Center for Chronic Musculoskeletal Diseases(20MC1920600)Shanghai Key Clinical Specialty"Traditional Chinese Medicine Orthopaedic Traumatology"(shslczdzk03901)+4 种基金the Second Round of Construction Project of National TCM Academic School Inheritance Studio"Shi's Trauma Department"[Letter of the People's Education of Traditional Chinese Medicine(2019)No.62]Shanghai High-level Local Universities"Chronic Muscle and Bone Damage Research and Transformation"Innovation Team[No.3 of Shanghai Education Commission(2022)]"Extension Plan for the Inheritance of Shanghai Style Traditional Chinese Medicine Schools",Construction of TCM Specialty Alliance for Muscle and Bone Injury in East China Region and City Level"[ZY(2021-2023)-0302]Program for Shanghai High-Level Local University Innovation Team(SZY20220315)Shanghai Shenkang Hospital Development Center Clinical Three-year Action Plan(SHDC2020CR3090B)。
文摘OBJECTIVE:To explore the potential molecular mechanism of Qigu capsule(芪骨胶囊,QGC)improve the functional performance of skeletal muscle.METHODS:The primary components of QGC were analyzed using high-performance liquid chromatography(HPLC).Muscle dysfunction was established in male C57BL/6 mice treated with dexamethasone(1 mg/kg body weight,i.p.,six weeks).Rotarod test,mitochondrial ultrastructure,respiratory chain complex V activity,succinate dehydrogenase(SDH)activity,adenosine triphosphate(ATP)content,and reactive oxygen species(ROS)levels were assessed.The mitochondrial biogenesis-related protein expressions were analyzed using Western blot or polymerase chain reaction(PCR).RESULTS:QGC treatment enhanced Rotarod test performance.Additionally,QGC significantly alleviated dexamethasone-induced mitochondrial damage,reduced mitochondrial swelling,increased respiratory chain complex enzyme activity,SDH activity,ATP content,and decreased ROS levels.PCR and western blot results revealed that QGC enhanced mitochondrial biogenesis via adenosine 5'-monophosphate-activated protein kinase(AMPK)/peroxisome proliferator-activated receptor-γcoactivator 1-alpha(PGC-1α)signaling pathway.CONCLUSIONS:QGC ameliorates dexamethasoneinduced skeletal muscle dysfunction by activating AMPK/PGC-1α,which might be developed as a therapeutic agent for treating age-related muscle weakness.
文摘Intensive care unit(ICU)acquired sarcopenia and myosteatosis are increasingly recognized complications of critical illness,characterized by a rapid loss of ske-letal muscle mass,quality,and function.These conditions result from a complex interplay of systemic inflammation,immobilization,catabolic stress,mitochon-drial dysfunction,and immune dysregulation,often culminating in impaired recovery,prolonged hospitalization,and increased long-term mortality.First identified in survivors of sepsis and prolonged mechanical ventilation,these muscle abnormalities were initially described using computed tomography-based assessments of muscle area and density.Subsequent advances in imaging,biomarker discovery,and functional testing have enabled earlier detection and risk stratification across diverse ICU populations.While nutritional optimization and early mobilization form the cornerstone of current prevention and treatment strategies,the emergence of novel approaches,including automated artificial intelligence-based screening,neuromuscular electrical stimulation,and targeted pharmacologic therapies,has broadened the clinical scope of interventions.Despite their significant prognostic implications,ICU-acquired sarcopenia and myosteatosis remain under-recognized in routine critical care practice.This mini-review aims to synthesize current knowledge regarding their pathophysiology,available diagnostic modalities,prognostic relevance,and the evolving landscape of therapeutic strategies for long-term functional recovery in critically ill patients.
文摘This retrospective case study investigates the clinical presentation of a 53-year-old female who underwent mantle field radiotherapy roughly 26 years ago. This patient presents with diffuse muscle atrophy and weakness in the cervical musculature, as well as sensory deficits in the upper extremities. We sought to compare our patient’s symptoms with other patients who had been formally diagnosed with Dropped Head Syndrome (DHS) by reviewing the existing literature. We found that the clinical presentation under investigation was consistent with other patients who had received radiotherapy for Hodgkins’s disease and were then diagnosed with DHS. Electromyography (EMG), nerve conduction studies, and a cervical MRI were unable to identify a separate neurological cause for the symptoms, but the MRI did confirm the presence of diffuse muscle atrophy in the cervical musculature. After reviewing the existing literature and imaging results, we compared our patient’s symptoms to those that define DHS, and both the time of onset, presenting symptoms, and progressing course are consistent with a diagnosis of Dropped Head Syndrome.
基金supported by grants from the National Natural Science Foundation of China(grant number:82072201).
文摘Intensive care unit-acquired weakness(ICU-AW)is a common complication in critically ill patients and is associated with a variety of adverse outcomes.These include the need for prolonged mechanical ventilation and ICU stay;higher ICU,in-hospital,and 1-year mortality;and increased in-hospital costs.ICU-AW is associated with multiple risk factors including age,underlying disease,severity of illness,organ failure,sepsis,immobilization,receipt of mechanical ventilation,and other factors related to critical care.The pathological mechanism of ICUAW remains unclear and may be considerably varied.This review aimed to evaluate recent insights into ICU-AW from several aspects including risk factors,pathophysiology,diagnosis,and treatment strategies;this provides new perspectives for future research.
文摘Background: Cerebral palsy is a group of disorders arising from a static damage or brain development defects occurring during fetal life and in the first months of life. Methods: The sample consisted of 800 individuals living in 50 districts of the city of Maceio. A standardized questionnaire was applied. Results: The prevalence of cerebral palsy in the sample was 5/1000. All were born at term, 75% were male, 50% had severe cerebral palsy and 50% was moderate. 75% had quadriplegia and 25% had diplegia. Fifty percent of the cerebral palsy was caused by meningitis and 50% for prolonged labor. Conclusions: The prevalence of cerebral palsy in Maceió is 140.38% higher than the highest prevalence found in developed countries, predominantly in low-income and related to postnatal infection in families.
基金Supported by The National Institute of Child Health and Human Development(NICHD),No.HD02528
文摘We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.
基金This work was supported by the Fundamental Research Funds for Central Public Welfare Research Institutes(2019-CZ-17,2020-CZ-12).
文摘Post-polio syndrome(PPS)is a neurologic disorder characterized by an accumulation of symptoms,most often muscle weakness,fatigue,and pain,decades after the initial polio.Diagnosis of PPS is based on the presence of a lower motor neuron disorder which is supported by neuro-physiological findings,as well as exclusion of other disorders as causes of new symptoms.The pathogenesis of PPS is still disputed.Rehabilitation for patients with PPS should take a comprehensive approach.Evaluation of the need for orthoses is often required.
基金funded in part by the Coordination of Improvement of Higher Level Personnel—Brazil(CAPES)—Finance Code 001by the National Council of Scientific and Technological Development—Brazil(CNPq)—Doctorate GD
文摘Intensive care units’ acquired muscle weakness is present in approximately 50% of the patients. Although active muscle training can attenuate weakness, a large proportion of critical patients cannot participate in any active mobilization. Neuromuscular electrical stimulation may be an alternative strategy to reverse muscle weakness. The objective of the study was to review the scientific publications on the use of neuromuscular electrical stimulation and its parameters and the main results in patients hospitalized in intensive care units. This is an integrative review surveying studies in online databases. The studies were selected from the following descriptors: neuromuscular electrical stimulation AND parameters AND intensive care units AND muscle weakness. The inclusion criteria included articles that addressed the topic of neuromuscular electrical stimulation and the parameters used in patients admitted to intensive care units, aged 18 years or older. Exclusion criteria were studies involving animals, case reports, letters to the editor and book chapters. The search comprised articles in the Portuguese, English and Spanish languages from January 2013 to March 2019. Of the 185 articles identified, nine met the eligibility criteria. The studies were evaluated assessing the level of evidence, and the relevant information was presented in the table and discussed. The parameters of the neuromuscular electrical stimulation employed in the studies showed positive results for the maintenance of strength and muscle mass. There was evidence of benefits in the local and systemic microcirculation, potentially mobilizing endothelial stem cells, to prevent atrophy, to reduce mechanical ventilation time and stay in intensive care unit;and when incorporated into the usual physiotherapy care, proved to be more effective than usual care. Its use is safe and viable in critically ill patients.
文摘To the Editor,Immune-mediated necrotizing myopathy(IMNM)is a type of inflammatory myopathy subdivided into three major subtypes:anti-signal recognition particle(anti-SRP)IMNM,anti-3-hydroxy-3-methylglutaryl coenzyme A reductase(anti-HMGCR)IMNM,and seronegative IMNM,which accounts for 10%–20%of cases.Patients usually present with subacute symmetrical muscle weakness,usually involving the proximal and pharyngeal muscles with sig-nificantly elevated creatinine kinase levels.Associated symptoms include myalgia,fatigue,and weight loss.^(1,2)Anti-SRP IMNM usually presents with a more fulminant course,with early dysphagia and possible respiratory failure,while this is rarer in anti-HMGCR and seronegative IMNM.Notably,seronegative IMNM is linked to malignancy,resulting in decreased survival.^(3)
基金supported by the National Key R&D Program of China(Grant No.2021YFC2702001)Project supported by the Young Scientists Fund of the National Natural Science Foundation of China(Grant No.82101423).
文摘Juvenile dermatomyositis(JDM)is a chronic pediatric autoimmune disease characterized by proximal muscle weakness and distinctive skin manifestations[1,2].The first-line treatment for JDM involves the combination of glucocorticoids with either methotrexate(MTX)or cyclosporine[3,4].For severe and refractory juvenile dermatomyositis,options such as tacrolimus.
基金supported by the National Natural Science Foundation of China(82102179)the Shandong Provincial Natural Science Foundation(ZR2020KF012,ZR2021QH267,ZR2021QH053)+2 种基金the Shanghai Municipal Key Clinical Specialty(shslczdzk02701)the National Institutes of Health(7 R21 NS113716-02)the National Institute on Disability and Rehabilitation Research(90REMM0001-01-00).
文摘This study presents a novel compound muscle action potential(CMAP)examination of motor unit changes in paretic muscle post stroke.CMAP scan of the first dorsal interosseous(FDI)muscle was performed bilaterally in 16 chronic stroke subjects.Various parameters were derived from the CMAP scan to examine paretic muscle changes,including CMAP amplitude,D50,step index(STEPIX)and amplitude index(AMPIX).A significant decrease in CMAP amplitude and STEPIX was observed in paretic muscles compared with contralateral muscles(CMAP amplitude:paretic(9.0±0.5)mV,contralateral(11.3±0.9)mV,P=0.024;STEPIX:paretic 101.2±7.6,contralateral 121.9±6.5,P=0.020).No significant difference in D50 and AMPIX was observed between the paretic and contralateral sides(P>0.05).The findings revealed complex paretic muscle changes including motor unit degeneration,muscle fiber denervation,reinnervation and atrophy,providing useful insights to help understand neuromuscular mechanisms associated with weakness and other functional deterioration post stroke.The CMAP scan experimental protocols and the applied processing methods are noninvasive,convenient,and automated,offering practical benefits for clinical application.
基金supported by the International Science and Technology Cooperation Program of Hubei Province under Grant 2021EHB003the National Natural Science Foundation of China under Grant U1913207the Program for HUST Academic Frontier Youth Team。
文摘For people with lower limb muscle weakness,effective and timely rehabilitation intervention is essential for assisting in daily walking and facilitating recovery.Numerous studies have been conducted on rehabilitation robots;however,some critical issues in the field of human-following remain unaddressed.These include potential challenges related to the loss of sensory signals for intention recognition and the complexities associated with maintaining the relative pose of robots during the following process.A human-following surveillance robot is introduced as the basis of the research.To address potential interruptions in motion signals,such as data transmission blockages or body occlusion,we propose a human walking intention estimation algorithm based on set-membership filtering with incomplete observation.To ensure uninterrupted user walking and maintain an effective aid and detection range,we propose a human-following control algorithm based on prescribed performance.The experiment verifies the effectiveness of the proposed methods.The proposed intention estimation algorithm achieves continuous and accurate intention recognition under incomplete observation.The control algorithm presented in this paper achieves constrained robot following with respect to the relative pose.
