BACKGROUND Stroke is a type of cerebrovascular disease with high prevalence,mortality,and onset of disability.As a neurodevelopmental therapy,neuromuscular joint facilitation(NJF)is widely used in the treatment of ort...BACKGROUND Stroke is a type of cerebrovascular disease with high prevalence,mortality,and onset of disability.As a neurodevelopmental therapy,neuromuscular joint facilitation(NJF)is widely used in the treatment of orthopedic and neurological disorders in the clinical practice.It is mainly used for central nervous system diseases or orthopedic diseases,movement disorders,and pain rehabilitation.According to related studies,NJF can also be used as a rehabilitation treatment in patients with hemiplegic shoulder pain(HSP).AIM To investigate the clinical efficacy of acupuncture combined with NJF in patients with HSP.METHODS Forty patients with HSP were randomly divided into a treatment group and a control group.The treatment group was treated with acupuncture combined with NJF and the control group was treated with acupuncture alone.All patients were assessed by using the visual analogue scale(VAS),Fugl-Meyer assessment(FMA),Barthel index(BI),and passive range of motion(PROM)before and after the training.All the clinical data were analyzed using SPSS 20.0 statistical software.RESULTS There was no statistical difference in the general characteristics between the two groups.In the terms of duration of treatment,age,and pre-treatment indicators,the two groups were comparable(P>0.05).After the treatment,VAS,PROM,BI,and FMA scores were significantly improved in the two groups of patients(P<0.05).The VAS,PROM and FMA scores were significantly higher in the treatment group than in the control group(P<0.05).However,there was no significant difference in BI scores between the two groups(P>0.05).CONCLUSION Both acupuncture alone and acupuncture combined with NJF in the treatment of HSP are effective,and can improve the clinical symptoms of patients.Acupuncture combined with NJF can improve the upper limb motor function,relieve pain,and increase joint mobility in patients with HSP.The combination therapy is better than acupuncture alone.However,there is no significant difference in improving the score of patients’self-care ability.展开更多
An experiment was carried out in the key laboratory for Technique Diagnosis and Function Assessment of Winter Sports of China to investigate the differences in gait characteristics between healthy children and childre...An experiment was carried out in the key laboratory for Technique Diagnosis and Function Assessment of Winter Sports of China to investigate the differences in gait characteristics between healthy children and children with spastic hemiplegic cerebral palsy. With permission of their parents, 200 healthy children aged 3 to 6 years in the kindergarten of Northeastern University were enrolled in this experiment. Twenty children aged 3 to 6 years with spastic hemiplegic cerebral palsy from Shengjing Hospital, China were also enrolled in this experiment. Standard data were collected by simultaneously recording gait information from two digital cameras. DVracker was used to analyze the standard data. The children with hemiplegic cerebra palsy had a longer gait cycle, slower walking speed, and longer support phase than did the healthy children. The support phase was longer than the swing phase in the children with hemiplegic cerebral palsy. There were significant differences in the angles of the hip, knee, and ankle joint between children with cerebral palsy and healthy children at the moment of touching the ground and buffering, and during pedal extension. Children with hemiplegic cerebral palsy had poor motor coordination during walking, which basically resulted in a short stride, high stride frequency to maintain speed, more obvious swing, and poor stability.展开更多
Objective:This study is conducted to investigate the effects of occupational therapy(OT) with or without combined acupuncture for upper limb pain and hand functions among children with spastic hemiplegic cerebral pals...Objective:This study is conducted to investigate the effects of occupational therapy(OT) with or without combined acupuncture for upper limb pain and hand functions among children with spastic hemiplegic cerebral palsy.Methods:A total of 90 patients who met the inclusion criteria were enrolled in a three-arm randomized,placebo-controlled trial,and were allocated to mono-occupational therapy(OT) group(patients=30),OT combined with real-acupuncture(ORA) group(patients=30),and OT combined with placeboacupuncture(OPA) group(patients=30),respectively.In addition to receiving the conventional OT program as the basic treatment for total 8 weeks,patients in ORA and OPA group also received corresponding acupuncture treatment 5 days per week for the first two weeks,3 days per week for the next two weeks,2 days per week for another two weeks,and 1 day per week for the last two weeks.Non-communicating children’s pain checklist-revised scale(NCCPC-R) was used for assessing the upper limb pain among patients.Squeeze dynamometry,modified Ashworth scale(MAS),manual muscle testing(MMT),JebsenTaylor hand function test(JTHFT) and box and block test(BBT) were used for assessing various aspects of upper limb and hand functions among patients.Meanwhile,adverse effects were monitored and recorded.Results:After 8-week treatment,NCCPC-R global scores witnessed a dramatic decline in ORA group(P<0.05),but not in either OPA(P> 0.05) or OT group(P> 0.05).Dramatic increases were identified in both squeeze dynamometry scores and MMT scores in all three groups(all P <0.05).Furthermore,the increases of ORA group were more significant than those of another two groups(both P <0.05).There were no significant changes in MAS global scores in each group(all P> 0.05).The BBT global scores of all three groups significantly increased(all P <0.05) after treatment.Among them,the increase of the ORA group was more than that of the other two groups(P <0.05).The 8-week treatment also had a significant impact on several sub-tests of JTFHT in each group.No significant adverse event was reported.Conclusion:ORA is a potential and promising alternative therapy for mitigating upper limb pain as well as improving both upper limb and hand functions among children with spastic hemiplegic cerebral palsy.展开更多
Background: Robot-assisted lower limb rehabilitation training in early stage could improve the limb function among hemiplegic patients caused by ischemic stroke. P300 potential changes have importantly clinical value ...Background: Robot-assisted lower limb rehabilitation training in early stage could improve the limb function among hemiplegic patients caused by ischemic stroke. P300 potential changes have importantly clinical value for evaluating the improvement in nerve function during the training as one of the objective targets. Methods: Sixty hemiplegic patients after stroke were randomly divided into a Lokomat group (30 cases) and a control group (30 cases). The Lokomat group received Lokomat rehabilitation while the control group only received traditional rehabilitation. The gait parameters and the balance ability were evaluated by the K421GAITRite analysis system and the Berg Balance Scale (BBS);ERP components including N100, N200, P200 and P300 potential were evaluated by a muscle electric inducing potentiometer. Results: There were no significant differences in BBS and gait parameters (P > 0.05), as well as in amplitude and incubation periods (IP) (P > 0.05) between the two groups before training. After 8 weeks treatment, the total (48.88 ± 3.68), static (26.40 ± 3.14) and dynamic (22.64 ± 3.68) balance scores improved significantly;the pace (59.22 ± 4.67), stride length (19.04 ± 2.24), feet wide (98.02 ± 7.97) and walking velocity (84.86 ± 9.88) and IP of N200 and P300 shortened obviously and P300 amplitude increased significantly in robot group (P < 0.05). Conclusion: This demonstrated that robot-assisted lower limb rehabilitation training in early stage could improve the limb function among hemiplegic patients caused by ischemic stroke. P300 may be considered as an indicator of neurological function improvement and effective robot-assisted lower limb rehabilitation training.展开更多
AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis ...AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis oocytes. FHM2 or SHM mutations of residues located in putative α/β interaction sites or in the α2-subunit's C-terminal region were investigated. Mutants were analyzed by the twoelectrode voltage-clamp(TEVC) technique on Xenopus oocytes. Stationary K+-induced Na+/K+ pump currents were measured, and the voltage dependence of apparent K+ affinity was investigated. Transient currents were recorded as ouabain-sensitive currents in Na+ buffers to analyze kinetics and voltage-dependent presteady state charge translocations. The expression of constructs was verified by preparation of plasma membrane and total membrane fractions of cRNA-injected oocytes. RESULTS: Compared to the wild-type enzyme, the mutants G900R and E902K showed no significant dif-ferences in the voltage dependence of K+-induced currents, and analysis of the transient currents indicated that the extracellular Na+ affinity was not affected. Mutant G855R showed no pump activity detectable by TEVC. Also for L994del and Y1009X, pump currents could not be recorded. Analysis of the plasma and total membrane fractions showed that the expressed proteins were not or only minimally targeted to the plasma membrane. Whereas the mutation K1003E had no impact on K+ interaction, D999H affected the voltage dependence of K+-induced currents. Furthermore, kinetics of the transient currents was altered compared to the wild-type enzyme, and the apparent affinity for extracellular Na+ was reduced. CONCLUSION: The investigated FHM2/SHM mutations influence protein function differently depending on the structural impact of the mutated residue.展开更多
The quantification of gait is uniquely facilitated through the conformal wearable and wireless inertial sensor system, which consists of a profile comparable to a bandage. These attributes advance the ability to quant...The quantification of gait is uniquely facilitated through the conformal wearable and wireless inertial sensor system, which consists of a profile comparable to a bandage. These attributes advance the ability to quantify hemiplegic gait in consideration of the hemiplegic affected leg and unaffected leg. The recorded inertial sensor data, which is inclusive of the gyroscope signal, can be readily transmitted by wireless means to a secure Cloud. Incorporating Python to automate the post-processing of the gyroscope signal data can enable the development of a feature set suitable for a machine learning platform, such as the Waikato Environment for Knowledge Analysis (WEKA). An assortment of machine learning algorithms, such as the multilayer perceptron neural network, J48 decision tree, random forest, K-nearest neighbors, logistic regression, and naïve Bayes, were evaluated in terms of classification accuracy and time to develop the machine learning model. The K-nearest neighbors achieved optimal performance based on classification accuracy achieved for differentiating between the hemiplegic affected leg and unaffected leg for gait and the time to establish the machine learning model. The achievements of this research endeavor demonstrate the utility of amalgamating the conformal wearable and wireless inertial sensor with machine learning algorithms for distinguishing the hemiplegic affected leg and unaffected leg during gait.展开更多
Voltage-gated sodium channels are essential ionic-conductance pathways in the nervous system,which play an irreplaceable role in modulating neuronal excitability and signal transduction.This review comprehensively ana...Voltage-gated sodium channels are essential ionic-conductance pathways in the nervous system,which play an irreplaceable role in modulating neuronal excitability and signal transduction.This review comprehensively analyzes the molecular mechanisms and pathophysiological significance of voltage-gated sodium channels,with particular emphasis on elucidating the molecular-action mechanisms of the distinct subtypes of these channels,including Nav1.1,Nav1.2,and Nav1.6,across various neurological disorders such as familial hemiplegic migraine,epilepsy,autism spectrum disorder,and retinal dysfunction.This review also provides a comprehensive overview of the pathogenic mechanisms associated with voltage-gated sodium channels,and systematically clarifies the evolutionary pathway of treatment strategies from conventional to innovative approaches.It analyzes two major categories of conventional sodium channel blockers and their applications:antiepileptic drugs(such as carbamazepine,lamotrigine,and phenytoin)and antiarrhythmic drugs(such as lidocaine,flecainide,and quinidine).However,these conventional blockers show limitations because of the lack of selectivity,driving research toward more precise therapeutic directions.Additionally,this review evaluates gabapentin,cannabidiol,and calcium channel blockers with different mechanisms of action.These drugs modulate neuronal excitability from multiple perspectives,providing diverse options for symptom relief.This review also highlights advances in gene therapy for specific diseases,such as STK-001,which promotes effective splicing of the sodium channel voltage-gated type 1 alpha subunit(SCN1A)gene,and ETX101,which utilizes adeno-associated virus 9 vectors to deliver engineered transcription factors.These two agents provide targeted therapeutic solutions for Dravet syndrome.Furthermore,this review summarizes some innovative therapeutic agents in clinical trials,including PRAX-222(for SCN2A gain-offunction mutation-related epilepsy),which has received Food and Drug Administration orphan drug designation,and the selective Nav1.6 inhibitor NBI-921352(for SCN8A-related epilepsy).Collectively,this review comprehensively compares the advantages and disadvantages of conventional drugs and gene therapy and envisions future treatment strategies that integrate the strengths of both approaches,facilitating personalized precision medicine to provide more accurate and effective treatment options for patients with ion channel diseases.展开更多
Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The c...Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The clinical features were recorded in detailed.The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform.The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.Results:These two pedigrees are diagnosed as familial hemiplegic migraine type 2(FHM2)with ATP1A2 heterozygous missense variants,c.1091C>T(p.T364M)found in pedigree 1 and c.899T>C(p.L300P)in pedigree 2.Multiple phenotypes coexist in both families,and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal,which can be fully recovered.ATP1A2 gene variants were seen in FHM2,sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood(AHC)families or sporadic cases,etc.The clinical features of ATP1A2 variant c.1091C>T(p.T364M)are basically similar in Chinese patients and European patients.Conclusion:These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation.It would expand the understanding of ATP1A2.展开更多
Migraine is a complex and heterogeneous disorder. Although several genetic models has been proposed including autosomal-dominant/autosomal recessive, sex-linked, sex-limited, mitochondrial, and multi-gene, none of the...Migraine is a complex and heterogeneous disorder. Although several genetic models has been proposed including autosomal-dominant/autosomal recessive, sex-linked, sex-limited, mitochondrial, and multi-gene, none of these models can well-explain the transmission of the disease. We hypothesied that migraine is a sex-conditioned inherited disorder （autosomal dominant in females and autosomal recessive in males）. This hypothesis is supported by the evidence such as the locations of genes associated with familial hemiplegic migraine, possibly ＂typical＂ migraine as well （dominantly on chromosome 19p, lq, and 2q）, male：female ratio of prevalence （1：2-1：4）, the mostly youth-onset, the provocation by the contraceptives, the induction by menstruation, and the self-limitation after menopause. Female sex-hormones appear to be the key contributor to a higher prevalence of migraine in female. Socio-environmental factors may also play an important role.展开更多
The authors regret that due to an oversight,the online version of Fig.5 is missing the sign,here is the correct Fig.5 and its caption.Fig.5:(A)Short interval intracortical inhibition(SICI)and(B)Long interval intracort...The authors regret that due to an oversight,the online version of Fig.5 is missing the sign,here is the correct Fig.5 and its caption.Fig.5:(A)Short interval intracortical inhibition(SICI)and(B)Long interval intracortical inhibition(LICI)in active and sham groups(Median,interquartile range,MEP peak to peak amplitude conditioned/test)of hemiplegic CP patients at baseline(pre)and after intervention.展开更多
Since 1992,task groups have used free nerve auto grafts to bridge partially transected nerves from the dominant area of the normal cerebral cortex to nerves that innervate spastic muscles from a diseased cerebral cort...Since 1992,task groups have used free nerve auto grafts to bridge partially transected nerves from the dominant area of the normal cerebral cortex to nerves that innervate spastic muscles from a diseased cerebral cortex,using transplanting sutures to alleviate the muscle spasm of cerebral palsy caused by different diseases. This has facilitated rebuilding of some of its neurological function. In this study,80 such patients were followed up,including 20 patients with traumatic brain injury,32 patients with stroke,and 28 pediatric patients with cerebral palsy. After postoperative follow-up of 3 to 21 years,the efficacy rate of this operation was 100% and the excellent and good spasm relief rate was 82.5%.展开更多
文摘BACKGROUND Stroke is a type of cerebrovascular disease with high prevalence,mortality,and onset of disability.As a neurodevelopmental therapy,neuromuscular joint facilitation(NJF)is widely used in the treatment of orthopedic and neurological disorders in the clinical practice.It is mainly used for central nervous system diseases or orthopedic diseases,movement disorders,and pain rehabilitation.According to related studies,NJF can also be used as a rehabilitation treatment in patients with hemiplegic shoulder pain(HSP).AIM To investigate the clinical efficacy of acupuncture combined with NJF in patients with HSP.METHODS Forty patients with HSP were randomly divided into a treatment group and a control group.The treatment group was treated with acupuncture combined with NJF and the control group was treated with acupuncture alone.All patients were assessed by using the visual analogue scale(VAS),Fugl-Meyer assessment(FMA),Barthel index(BI),and passive range of motion(PROM)before and after the training.All the clinical data were analyzed using SPSS 20.0 statistical software.RESULTS There was no statistical difference in the general characteristics between the two groups.In the terms of duration of treatment,age,and pre-treatment indicators,the two groups were comparable(P>0.05).After the treatment,VAS,PROM,BI,and FMA scores were significantly improved in the two groups of patients(P<0.05).The VAS,PROM and FMA scores were significantly higher in the treatment group than in the control group(P<0.05).However,there was no significant difference in BI scores between the two groups(P>0.05).CONCLUSION Both acupuncture alone and acupuncture combined with NJF in the treatment of HSP are effective,and can improve the clinical symptoms of patients.Acupuncture combined with NJF can improve the upper limb motor function,relieve pain,and increase joint mobility in patients with HSP.The combination therapy is better than acupuncture alone.However,there is no significant difference in improving the score of patients’self-care ability.
基金provided by the Educational Bureau of Liaoning Province,No. 2009A671
文摘An experiment was carried out in the key laboratory for Technique Diagnosis and Function Assessment of Winter Sports of China to investigate the differences in gait characteristics between healthy children and children with spastic hemiplegic cerebral palsy. With permission of their parents, 200 healthy children aged 3 to 6 years in the kindergarten of Northeastern University were enrolled in this experiment. Twenty children aged 3 to 6 years with spastic hemiplegic cerebral palsy from Shengjing Hospital, China were also enrolled in this experiment. Standard data were collected by simultaneously recording gait information from two digital cameras. DVracker was used to analyze the standard data. The children with hemiplegic cerebra palsy had a longer gait cycle, slower walking speed, and longer support phase than did the healthy children. The support phase was longer than the swing phase in the children with hemiplegic cerebral palsy. There were significant differences in the angles of the hip, knee, and ankle joint between children with cerebral palsy and healthy children at the moment of touching the ground and buffering, and during pedal extension. Children with hemiplegic cerebral palsy had poor motor coordination during walking, which basically resulted in a short stride, high stride frequency to maintain speed, more obvious swing, and poor stability.
基金Supported by University’s Scientific Research ProjectShanghai Sanda University:No.2021zz02-yj+1 种基金Special Project for Clinical ResearchShanghai Municipal Health Commission:No.20174Y0009.
文摘Objective:This study is conducted to investigate the effects of occupational therapy(OT) with or without combined acupuncture for upper limb pain and hand functions among children with spastic hemiplegic cerebral palsy.Methods:A total of 90 patients who met the inclusion criteria were enrolled in a three-arm randomized,placebo-controlled trial,and were allocated to mono-occupational therapy(OT) group(patients=30),OT combined with real-acupuncture(ORA) group(patients=30),and OT combined with placeboacupuncture(OPA) group(patients=30),respectively.In addition to receiving the conventional OT program as the basic treatment for total 8 weeks,patients in ORA and OPA group also received corresponding acupuncture treatment 5 days per week for the first two weeks,3 days per week for the next two weeks,2 days per week for another two weeks,and 1 day per week for the last two weeks.Non-communicating children’s pain checklist-revised scale(NCCPC-R) was used for assessing the upper limb pain among patients.Squeeze dynamometry,modified Ashworth scale(MAS),manual muscle testing(MMT),JebsenTaylor hand function test(JTHFT) and box and block test(BBT) were used for assessing various aspects of upper limb and hand functions among patients.Meanwhile,adverse effects were monitored and recorded.Results:After 8-week treatment,NCCPC-R global scores witnessed a dramatic decline in ORA group(P<0.05),but not in either OPA(P> 0.05) or OT group(P> 0.05).Dramatic increases were identified in both squeeze dynamometry scores and MMT scores in all three groups(all P <0.05).Furthermore,the increases of ORA group were more significant than those of another two groups(both P <0.05).There were no significant changes in MAS global scores in each group(all P> 0.05).The BBT global scores of all three groups significantly increased(all P <0.05) after treatment.Among them,the increase of the ORA group was more than that of the other two groups(P <0.05).The 8-week treatment also had a significant impact on several sub-tests of JTFHT in each group.No significant adverse event was reported.Conclusion:ORA is a potential and promising alternative therapy for mitigating upper limb pain as well as improving both upper limb and hand functions among children with spastic hemiplegic cerebral palsy.
文摘Background: Robot-assisted lower limb rehabilitation training in early stage could improve the limb function among hemiplegic patients caused by ischemic stroke. P300 potential changes have importantly clinical value for evaluating the improvement in nerve function during the training as one of the objective targets. Methods: Sixty hemiplegic patients after stroke were randomly divided into a Lokomat group (30 cases) and a control group (30 cases). The Lokomat group received Lokomat rehabilitation while the control group only received traditional rehabilitation. The gait parameters and the balance ability were evaluated by the K421GAITRite analysis system and the Berg Balance Scale (BBS);ERP components including N100, N200, P200 and P300 potential were evaluated by a muscle electric inducing potentiometer. Results: There were no significant differences in BBS and gait parameters (P > 0.05), as well as in amplitude and incubation periods (IP) (P > 0.05) between the two groups before training. After 8 weeks treatment, the total (48.88 ± 3.68), static (26.40 ± 3.14) and dynamic (22.64 ± 3.68) balance scores improved significantly;the pace (59.22 ± 4.67), stride length (19.04 ± 2.24), feet wide (98.02 ± 7.97) and walking velocity (84.86 ± 9.88) and IP of N200 and P300 shortened obviously and P300 amplitude increased significantly in robot group (P < 0.05). Conclusion: This demonstrated that robot-assisted lower limb rehabilitation training in early stage could improve the limb function among hemiplegic patients caused by ischemic stroke. P300 may be considered as an indicator of neurological function improvement and effective robot-assisted lower limb rehabilitation training.
基金Supported by German Research Foundation(Cluster of Excellence"Unifying Concepts in Catalysis")
文摘AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis oocytes. FHM2 or SHM mutations of residues located in putative α/β interaction sites or in the α2-subunit's C-terminal region were investigated. Mutants were analyzed by the twoelectrode voltage-clamp(TEVC) technique on Xenopus oocytes. Stationary K+-induced Na+/K+ pump currents were measured, and the voltage dependence of apparent K+ affinity was investigated. Transient currents were recorded as ouabain-sensitive currents in Na+ buffers to analyze kinetics and voltage-dependent presteady state charge translocations. The expression of constructs was verified by preparation of plasma membrane and total membrane fractions of cRNA-injected oocytes. RESULTS: Compared to the wild-type enzyme, the mutants G900R and E902K showed no significant dif-ferences in the voltage dependence of K+-induced currents, and analysis of the transient currents indicated that the extracellular Na+ affinity was not affected. Mutant G855R showed no pump activity detectable by TEVC. Also for L994del and Y1009X, pump currents could not be recorded. Analysis of the plasma and total membrane fractions showed that the expressed proteins were not or only minimally targeted to the plasma membrane. Whereas the mutation K1003E had no impact on K+ interaction, D999H affected the voltage dependence of K+-induced currents. Furthermore, kinetics of the transient currents was altered compared to the wild-type enzyme, and the apparent affinity for extracellular Na+ was reduced. CONCLUSION: The investigated FHM2/SHM mutations influence protein function differently depending on the structural impact of the mutated residue.
文摘The quantification of gait is uniquely facilitated through the conformal wearable and wireless inertial sensor system, which consists of a profile comparable to a bandage. These attributes advance the ability to quantify hemiplegic gait in consideration of the hemiplegic affected leg and unaffected leg. The recorded inertial sensor data, which is inclusive of the gyroscope signal, can be readily transmitted by wireless means to a secure Cloud. Incorporating Python to automate the post-processing of the gyroscope signal data can enable the development of a feature set suitable for a machine learning platform, such as the Waikato Environment for Knowledge Analysis (WEKA). An assortment of machine learning algorithms, such as the multilayer perceptron neural network, J48 decision tree, random forest, K-nearest neighbors, logistic regression, and naïve Bayes, were evaluated in terms of classification accuracy and time to develop the machine learning model. The K-nearest neighbors achieved optimal performance based on classification accuracy achieved for differentiating between the hemiplegic affected leg and unaffected leg for gait and the time to establish the machine learning model. The achievements of this research endeavor demonstrate the utility of amalgamating the conformal wearable and wireless inertial sensor with machine learning algorithms for distinguishing the hemiplegic affected leg and unaffected leg during gait.
基金supported by the National Natural Science Foundation of China,Nos.82471107,31970930(both to KY)the National Key Research and Development Program of China,No.2024YFA1108701(to KY)+1 种基金the Natural Science Foundation of Hubei Province,Nos.2020CFA069(to KY),2018CFB434(to KY),2025AFB042(to HQ)the Neuroscience Team Development Project of Wuhan University of Science and Technology,Nos.1180002,1180030(both to KY)。
文摘Voltage-gated sodium channels are essential ionic-conductance pathways in the nervous system,which play an irreplaceable role in modulating neuronal excitability and signal transduction.This review comprehensively analyzes the molecular mechanisms and pathophysiological significance of voltage-gated sodium channels,with particular emphasis on elucidating the molecular-action mechanisms of the distinct subtypes of these channels,including Nav1.1,Nav1.2,and Nav1.6,across various neurological disorders such as familial hemiplegic migraine,epilepsy,autism spectrum disorder,and retinal dysfunction.This review also provides a comprehensive overview of the pathogenic mechanisms associated with voltage-gated sodium channels,and systematically clarifies the evolutionary pathway of treatment strategies from conventional to innovative approaches.It analyzes two major categories of conventional sodium channel blockers and their applications:antiepileptic drugs(such as carbamazepine,lamotrigine,and phenytoin)and antiarrhythmic drugs(such as lidocaine,flecainide,and quinidine).However,these conventional blockers show limitations because of the lack of selectivity,driving research toward more precise therapeutic directions.Additionally,this review evaluates gabapentin,cannabidiol,and calcium channel blockers with different mechanisms of action.These drugs modulate neuronal excitability from multiple perspectives,providing diverse options for symptom relief.This review also highlights advances in gene therapy for specific diseases,such as STK-001,which promotes effective splicing of the sodium channel voltage-gated type 1 alpha subunit(SCN1A)gene,and ETX101,which utilizes adeno-associated virus 9 vectors to deliver engineered transcription factors.These two agents provide targeted therapeutic solutions for Dravet syndrome.Furthermore,this review summarizes some innovative therapeutic agents in clinical trials,including PRAX-222(for SCN2A gain-offunction mutation-related epilepsy),which has received Food and Drug Administration orphan drug designation,and the selective Nav1.6 inhibitor NBI-921352(for SCN8A-related epilepsy).Collectively,this review comprehensively compares the advantages and disadvantages of conventional drugs and gene therapy and envisions future treatment strategies that integrate the strengths of both approaches,facilitating personalized precision medicine to provide more accurate and effective treatment options for patients with ion channel diseases.
文摘Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The clinical features were recorded in detailed.The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform.The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.Results:These two pedigrees are diagnosed as familial hemiplegic migraine type 2(FHM2)with ATP1A2 heterozygous missense variants,c.1091C>T(p.T364M)found in pedigree 1 and c.899T>C(p.L300P)in pedigree 2.Multiple phenotypes coexist in both families,and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal,which can be fully recovered.ATP1A2 gene variants were seen in FHM2,sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood(AHC)families or sporadic cases,etc.The clinical features of ATP1A2 variant c.1091C>T(p.T364M)are basically similar in Chinese patients and European patients.Conclusion:These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation.It would expand the understanding of ATP1A2.
文摘Migraine is a complex and heterogeneous disorder. Although several genetic models has been proposed including autosomal-dominant/autosomal recessive, sex-linked, sex-limited, mitochondrial, and multi-gene, none of these models can well-explain the transmission of the disease. We hypothesied that migraine is a sex-conditioned inherited disorder （autosomal dominant in females and autosomal recessive in males）. This hypothesis is supported by the evidence such as the locations of genes associated with familial hemiplegic migraine, possibly ＂typical＂ migraine as well （dominantly on chromosome 19p, lq, and 2q）, male：female ratio of prevalence （1：2-1：4）, the mostly youth-onset, the provocation by the contraceptives, the induction by menstruation, and the self-limitation after menopause. Female sex-hormones appear to be the key contributor to a higher prevalence of migraine in female. Socio-environmental factors may also play an important role.
文摘The authors regret that due to an oversight,the online version of Fig.5 is missing the sign,here is the correct Fig.5 and its caption.Fig.5:(A)Short interval intracortical inhibition(SICI)and(B)Long interval intracortical inhibition(LICI)in active and sham groups(Median,interquartile range,MEP peak to peak amplitude conditioned/test)of hemiplegic CP patients at baseline(pre)and after intervention.
基金supported by the Shanghai Science and Technology Project(No.10411953800)
文摘Since 1992,task groups have used free nerve auto grafts to bridge partially transected nerves from the dominant area of the normal cerebral cortex to nerves that innervate spastic muscles from a diseased cerebral cortex,using transplanting sutures to alleviate the muscle spasm of cerebral palsy caused by different diseases. This has facilitated rebuilding of some of its neurological function. In this study,80 such patients were followed up,including 20 patients with traumatic brain injury,32 patients with stroke,and 28 pediatric patients with cerebral palsy. After postoperative follow-up of 3 to 21 years,the efficacy rate of this operation was 100% and the excellent and good spasm relief rate was 82.5%.
