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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

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Neural Regeneration Research 2024年第7期19卷 1499-1508页

作者： Yiran Xu Yifei Li Seidu A.Richard Yanyan Sun Changlian Zhu Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina National Health Council(NHC)Key Laboratory of Birth Defects Prevention Henan Key Laboratory of Population Defects PreventionZhengzhouHenan ProvinceChina Department of Human Anatomy School of Basic Medicine and Institute of NeuroscienceZhengzhou UniversityZhengzhouHenan ProvinceChina Center for Brain Repair and Rehabilitation Institute of Neuroscience and PhysiologyUniversity of GothenburgGothenburgSweden

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and *** with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal *** disturbances severely impact the child’s daily life and impose a substantial economic burden on the *** cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and *** review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy *** is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa *** pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still ***,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy *** r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular ***,exploring targeted genotypes holds potential for precision *** conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral *** breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical *** investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management *** elucidating the underlying cellular mechanisms,w

关键词： cerebral palsy environmental factors etiology genetic factors genetic mutation movement disorder spastic diplegia

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Allogeneic mesenchymal stem cells may be a viable treatment modality in cerebral palsy

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World Journal of Clinical Cases 2024年第9期12卷 1585-1596页

作者： Osman Boyalı Serdar Kabatas ErdinçCivelek Omer Ozdemir Yeliz Bahar-Ozdemir Necati Kaplan Eyüp Can Savrunlu Erdal Karaöz Department of Neurosurgery University of Health Sciences TurkeyGaziosmanpaşa Training and Research HospitalIstanbul 34360Turkey Center for Stem Cell&Gene Therapy Research and Practice University of Health Sciences TurkeyIstanbul 34360Turkey Department of Physical Medicine and Rehabilitation Health Sciences University Sultan Abdulhamid Han Training and Research HospitalIstanbul 34668Turkey Department of Neurosurgery Istanbul Rumeli UniversityÇorlu Reyap HospitalTekirdağ59860Turkey Department of Neurosurgery Nevşehir State HospitalNevşehir 50300Turkey Center for Regenerative Medicine and Stem Cell Research&Manufacturing(LivMedCell) Liv HospitalIstanbul 34340Turkey Department of Histology and Embryology Istinye UniversityFaculty of Medicineİstanbul 34010Turkey Center for Stem Cell and Tissue Engineering Research and Practice Istinye UniversityIstanbul 34340Turkey

BACKGROUND cerebral palsy(CP)describes a group of disorders affecting movement,balance,and *** in motor functions constitute the main body of CP *** symptoms surface in early childhood and patients are affected for the rest of their ***,treatment involves various pharmacotherapies for different types of CP,including antiepileptics for epilepsy and Botox A for focal ***,none of these methods can provide full symptom *** has prompted researchers to look for new treatment modalities,one of which is mesenchymal stem cell therapy(MSCT).Despite being a promising tool and offering a wide array of possibilities,mesenchymal stem cells(MSCs)still need to be investigated for their efficacy and *** To analyze the efficacy and safety of MSCT in CP *** Our sample consists of four CP patients who cannot stand or walk without external *** of these cases received allogeneic MSCT six times as 1×106/kg intrathecally,intravenously,and intramuscularly using umbilical cord-derived MSCs(UC-MSC).We monitored and assessed the patients pre-and post-treatment using the Wee Functional Independence Measure(WeeFIM),Gross Motor Function Classification System(GMFCS),and Manual Ability Classification Scale(MACS)*** utilized the Modified Ashworth Scale(MAS)to measure *** We found significant improvements in MAS scores after the intervention on both *** months:Rightχ^(2)=4000,P=0.046,leftχ^(2)=4000,P=0.046;four months:Rightχ^(2)=4000,P=0.046,leftχ^(2)=4000,P=0.046;12 months:Rightχ^(2)=4000,P=0.046,leftχ^(2)=4000,P=***,there was no significant difference in motor functions based on WeeFIM results(P>0.05).GMFCS and MACS scores differed significantly at 12 months after the intervention(P=0.046,P=0.046).Finally,there was no significant change in cognitive functions(P>0.05).CONCLUSION In light of our findings,we believe that UC-MSC therapy has a positive effect on spasticity

关键词： cerebral palsy Mesenchymal stem cell Transplantation Wharton’s jelly Muscle spasticity

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An overview of acupuncture for the treatment of limb spasticity in cerebral palsy-A mini review

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Clinical Research Communications 2024年第1期7卷 18-23页

作者： Xiao-yu Shen Jian-guo Zhong Cui-hua Dan Rehabilitation Department The Second Affiliated Hospital of Chengdu Medical College(China National Nuclear Corporation 416 Hospital)Chengdu 610051China Rehabilitation Department Chengdu Medical CollegeChengdu 610500China

cerebral palsy is a common chronic disabling disease in children with special needs,and rehabilitation for cerebral palsy is characterized by a long period,multiple methods and limited *** to the limited motor function of cerebral palsy patients,the quality of life of patients is reduced,and their ability to participate in society is reduced,so the improvement of patients’motor function has become an important goal of cerebral palsy *** motor function of cerebral palsy has become an important goal of cerebral palsy *** spasticity is one of the main clinical signs of cerebral palsy patients,and the more severe the limb spasticity is,the greater the impact on the patient's motor function,so improving limb spasticity in patients with cerebral palsy is particularly ***,as a Chinese medicine treatment method,has been widely used in the clinical treatment of cerebral palsy in China,and has shown certain *** promote the clinical application of acupuncture technique in cerebral palsy limb spasticity,this paper analyses and summarizes the relevant literature on acupuncture treatment of cerebral palsy limb spasticity summarizes the current status of the clinical application of acupuncture in cerebral palsy limb spasticity,and provides clinical references for the reasonable application of acupuncture in cerebral palsy limb spasticity.

关键词： cerebral palsy limb spasticity acupuncture treatment mini review

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Scalp acupuncture Yikang therapy on Baihui(GV20),Sishencong(EX-HN1),Zhisanzhen,Niesanzhen improves neurobehavior in young rats with cerebral palsy through Notch signaling pathway

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Journal of Traditional Chinese Medicine 2023年第2期43卷 337-342页

作者： XUE Jianyi XU Jinyan HUANG Mao YU Wentao YAN Yihui YAN Yuanjie YIN Zhenjin LU Qian PENG Wanying YAN Siyang Department of Acupuncture and Message Hebei University of Chinese MedicineShijiazhuang 050091China Department of Child Rehabilitation the First Affiliated Hospital of Hebei University of Chinese MedicineShijiazhuang 050013China the second Outpatient Department Hebei University of Chinese MedicineShijiazhuang 050090China School of Basic Medicine Hebei University of Chinese MedicineShijiazhuang 050200China

OBJECTIVE:To investigate the efficacy of scalp acupuncture Yikang therapy on Baihui(GV20),Sishencong(EX-HN1),Zhisanzhen,Niesanzhen,on neurobehavior in young rats with cerebral palsy based on Notch signaling ***:Thirty 7-day-old rats were randomly divided into sham,model and acupuncture,10 rats in each *** cerebral palsy model was established by the accepted modeling method,the acupuncture group selected"Baihui(GV20)","Sishencong(EX-HN1)","Zhisanzhen"and"Niesanzhen"for intervention 24 h after the model was *** body masses were recorded before and after the treatment,*** the intervention,the rats were subjected to suspension experiment,slope experiment,tactile stimulation experiment and Morris water maze *** the end of the experiment,the morphological changes of hippocampal histology were observed by hematoxylineosin(HE)staining under light microscope,and the expression of Notch1,Notch3 and Hes5 were detected by Western blot and quantitative real-time polymerase chain reaction(PCR).RESULTS:The changes in body mass of the rats in each group were different;in behavioral experiments,compared with the sham,the suspension time of the model was shortened,the slope experiment,tactile stimulation experiment,and escape latency time were prolonged,and the number of platform crossing was reduced in the model,compared with the model,the suspension time of the acupuncture was prolonged,the slope experiment,tactile stimulation experiment,and escape latency time were shortened,and the number of platform crossing times was increased;HE staining showed severe hippocampal damage in the model and reduced hippocampal damage in the *** Blot and real-time fluorescence quantitative PCR showed that the expression of Notch1,Notch3 and Hes5 were increased in the model and the expression of Notch1,Notch3,Hes5 in acupuncture were ***:Scalp acupuncture Yikang therapy may improve neurobehavior and reduce brain inj

关键词： cerebral palsy scalp acupuncture Yikang therapy hippocampal tissue Notch signaling pathway

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Addition of respiratory exercises to conventional rehabilitation for children and adolescents with cerebral palsy:a systematic review and meta-analysis

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World Journal of Pediatrics 2023年第4期19卷 340-355页

作者： Thálita Raysa de Lima Crispim Mansueto Gomes Neto Tafnes Rayane Lima Crispim Renivaldo Batista Dias Maria Déborah Monteiro de Albuquerque Micheli Bernardone Saquetto Paulo André Freire Magalhães Research Group of Neonatal and Pediatric Physical Therapy Baby GrUPEPetrolinaPernambucoBrazil Postgraduate Program in Rehabilitation and Functional Performance PPGRDFUniversidade de PernambucoRodovia BR 203Km 2 S/N.Vila EduardoPetrolinaPernambuco56328-900Brazil Research Group of Physiotherapy Department of Physical TherapyUniversidade Federal da BahiaSalvadorBrazil Posgraduate Program in Medicine and Health SalvadorBahiaBrazil

Background Respiratory dysfunctions are an important cause of morbidity and death in cerebral palsy(CP)*** exercises in addition to conventional rehabilitation have been suggested to improve respiratory status in CP *** objective of this systematic review and meta-analysis was to verify the effects of the addition of respiratory exercises to conventional rehabilitation on pulmonary function,functional capacity,respiratory muscle strength,gross motor function and quality of life in children and adolescents with *** We searched for randomized controlled clinical trials in PubMed/Medline,Lilacs,SciELO,EMBASE and Physi-otheraphy Evidence(PEDro)from their inception until July 2022 without language *** that included respiratory exercises(breathing exercise program;feedback respiratory training;incentive spirometer exercise;inspiratory muscle training;and combination of respiratory exercises+incentive spirometer exercise)in combination with conventional rehabilitation for children and adolescents with CP were evaluated by two independent *** mean difference(MD)and 95%confidence interval(CI)were estimated by random effect *** Ten studies met the eligibility criteria,including 324 children aged from 6 to 16 *** meta-analysis showed an improvement in inspiratory muscle strength of 22.96 cmH2O(18.63-27.27,n=55)and pulmonary function of 0.60(0.38-0.82,n=98)for forced vital capacity(L);0.22(0.06-0.39,n=98)for forced expiratory volume at 1 second(L);and 0.50(0.05-0.04,n=98)for peak expiratory flow(L/min).Functional skills in daily living activities improved in the intervention ***'assistance of daily living activities,functional capacity,gross motor function and expiratory muscle strength showed a nonsignificant *** well-being and acceptance and functioning domains improved in only one *** Emerging data show significant enhancements in inspiratory muscle stren

关键词： Breathing exercises cerebral palsy Inspiratory muscle training Pediatrics Rehabilitation Respiratory exercise

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Precise Rehabilitation Strategies for Functional Impairment in Children with cerebral palsy

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Intelligent Automation & Soft Computing 2023年第6期36卷 3191-3202页

作者： Yaojin Sun Nan Jiang Min Zhu Hao Hua Department of Rehabilitation Medicine Children’s Hospital of Nanjing Medical UniversityNanjing210008China SKEMA Business School Lille59777France

This paper explores the effect of precise rehabilitation strategies under the international classification of functioning,disability and health for children and youth(ICF-CY)on the motor function of children with cerebral *** the framework of ICF-CY,the observation team is designed and evaluated from physical functions,activities and participation,environmental factors,and devel-ops individualized rehabilitation strategies that are tailored to individual *** control group was assessed by traditional methods and treatment plans and measures were formulated and *** course of treatment was 12 *** scores of GMFM-88,Peabody Motor Development Scale-2con-cluding fine motor quotient(PDMS-FM),WeeFIM and the ability of daily living(ADL)scale(Barthel index,BI)score were compared before and after *** research shows that precise rehabilitation strategy mode for children with cer-ebral palsy under the ICF-CY framework can effectively improve the motor func-tion and the ability of daily living(ADL)in children with cerebral *** evaluation and treatment mode of children with cerebral palsy under ICF-CY framework can effectively improve the gross motor function of children with cerebral *** evaluation and analysis and guidance of comprehensive rehabilitation treatment have certain *** overall treatment effect is better than that of traditional rehabilitation evaluation.

关键词： ICF-CY cerebral palsy precise rehabilitation strategy

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Effects of video game-based therapy in an adolescent with cerebral palsy: A case report

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World Journal of Clinical Cases 2023年第36期11卷 8595-8602页

作者： Huda Aliah Mohd Iqbal Wei Sheng Ho Asfarina Zanudin Hafifi Hisham Nor Azlin Mohd Nordin Physiotherapy Programme Centre for Rehabilitation and Special Needs StudiesFaculty of Health SciencesUniversiti Kebangsaan MalaysiaJalan Raja Muda Abdul AzizKuala Lumpur 50300Malaysia

BACKGROUND Herein,we report the case of a 13-year-old boy with spastic quadriplegia cerebral palsy(CP)at Gross Motor Function Classification System(GMFCS)level II,en-gaging in a 6-wk video game-based therapy(VBT)*** study aimed to offer essential insights regarding VBT’s impact on enhancing the physical function and improving the quality of life(QoL)of adolescents diagnosed with *** report provides a distinctive viewpoint that can inform and direct future clinical practices and research *** SUMMARY The boy presented with moderate mobility,balance,and overall *** faced challenges with diminished lower limb strength,which affected his daily living and physical fitness *** participant was diagnosed with spas-tic quadriplegic CP at GMFCS level *** participated in a 6-wk program of VBT using a play *** innovative approach incorporates warm-up exercises,interactive activities,and cool-down routines,targeting various movements,in-cluding single-leg stance,weight shifting,kicking,jumping,marching,and *** VBT,the strength of the left hip extensor significantly increased from 199.3 N to 541.3 *** covered as part of a 6-min walk test increased by 82 *** Paediatric QoL Inventory score increased dramatically by 25.9%.CONCLUSION VBT is an innovative,individualized therapy that enhances physical function and QoL in CP,emphasizing its role in ambulatory patients.

关键词： Video game Physical function Quality of life cerebral palsy Case report

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Is it necessary to fuse to the pelvis when correcting scoliosis in cerebral palsy?

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World Journal of Orthopedics 2022年第4期13卷 365-372页

作者： Shane F Strom Matthew C Hess Achraf H Jardaly Michael J Conklin Shawn R Gilbert Department of Orthopaedics University of Alabama at BirminghamBirminghamAl 35294United States Department of Orthopaedics The Hughston Clinic/Hughston FoundationColumbusGA 31908United States

BACKGROUND Neuromuscular scoliosis is commonly associated with a large pelvic *** in children with cerebral palsy is most commonly managed with posterior spinal instrumentation and *** consensus is reached regarding the proximal starting point of fusion,controversy exists as to whether the distal level of spinal fusion should include the pelvis to correct the pelvic *** To assess the role of pelvic fusion in posterior spinal instrumentation and fusion,particularly it impact on pelvic obliquity correction,and to assess if the rate of complications differed as a function of pelvic *** This was a retrospective,cohort study in which we reviewed the medical records of children with cerebral palsy scoliosis treated with posterior instrumentation and fusion at a single *** follow-up was six *** were stratified into two groups:Those who were fused to the pelvis and those fused to L4/*** major outcomes were complications and radiographic *** former were stratified into major and minor complications,and the latter consisted of preoperative and final Cobb angles,L5-S1 tilt and pelvic *** The study included 47 *** correction of the L5 tilt was 60%in patients fused to the pelvis and 67%in patients fused to L4/L5(P=0.22).The pelvic obliquity was corrected by 43%and 36%in each group,respectively(P=0.12).Regarding complications,patients fused to the pelvis had more total complications as compared to the other group(63.0%vs 30%,respectively,P=0.025).After adjusting for differences in radiographic parameters(lumbar curve,L5 tilt,and pelvic obliquity),these patients had a 79%increased chance of developing complications(Relative risk=1.79;95%CI:1.011-3.41).CONCLUSION Including the pelvis in the distal level of fusion for cerebral palsy scoliosis places patients at an increased risk of postoperative *** added value that pelvic fusion offers in terms of correcting

关键词： cerebral palsy Scoliosis Pelvic fusion Pelvic obliquity Spinal fusion Distal lumbar level

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cerebral palsy in children born after assisted reproductive technology: a meta-analysis

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World Journal of Pediatrics 2021年第4期17卷 364-374页

作者： Fang-Fang Wang Tao Yu Xiao-Lu Chen Rong Luo De-Zhi Mu Department of Pediatrics The First Affiliated Hospital of Zhengzhou UniversityZhengzhouChina Department of Pediatrics West China Second University HospitalSichuan University20 South Renmin Road 3rd SectionWuhou DistrictChengdu 610041China Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education Sichuan UniversityChengduChina

Background Several studies have assessed the association between cerebral palsy(CP)and assisted reproductive technology(ART),but the results remain *** conducted a meta-analysis to evaluate the risk of CP after ART compared with natural conceptions and to examine CP risk separately in ART singletons,multiples and preterm *** Web-based databases(PubMed,Embase,the Cochrane Library,and Web of Science)were searched until November 22,*** which compare CP rates after ART with natural conceptions were *** Newcastle–Ottawa Scale was used to assess the quality of the included *** estimates were extracted and combined using the fixed-effects or random-effects model depending on the heterogeneity *** There were nine studies included in the *** included studies were of moderate or high quality.A significantly higher risk of CP[odds ratio(OR)=2.17,95%confidence interval(CI)1.72–2.74]was found in ART children(n=89,214)compared with naturally conceived children(n=4,160,745).The significantly higher risk decreased when data were restricted to singletons(OR=1.36,95%CI 1.16–1.59)and disappeared when data were restricted to multiples(OR=1.05,95%CI 0.86–1.29)or preterm births(OR=1.53,95%CI 0.66–3.56).Subgroup and sensitivity analyses indicated that the overall results were *** The risk of CP is increased more than two-fold after *** increased risk is largely due to increased rates of multiple birth and preterm delivery in ART children.

关键词： Assisted reproductive technology cerebral palsy Meta-analysis

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cerebral palsy 2005

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2005年

作者： Freeman Miller

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