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21.
We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy. 相似文献
22.
Rodrigo Araneda Laurance Dricot Daniela Ebner-Karestinos Julie Paradis Andrew M. Gordon Kathleen M. Friel Yannick Bleyenheuft 《Annals of physical and rehabilitation medicine》2021,64(3):101502
BackgroundIntensive motor-learning-based interventions have demonstrated efficacy for improving motor function in children with unilateral spastic cerebral palsy (USCP). Although this improvement has been associated mainly with neuroplastic changes in the primary sensori-motor cortices, this plasticity may also involve a wider fronto-parietal network for motor learning.ObjectiveTo determine whether hand-arm bimanual intensive therapy including lower extremities (HABIT-ILE) induces brain activation changes in an extensive network for motor skill learning and whether these changes are related to functional changes observed after HABIT-ILE.MethodsIn total, 25 children with USCP were behaviourally assessed in manual dexterity and everyday activities before and after HABIT-ILE. Functional imagery monitored brain activity while participants manipulated objects using their less-affected, more-affected or both hands. Two random-effects-group analyses performed at the whole-brain level assessed the brain activity network before and after therapy. Three other random-effects-group analyses assessed brain activity changes after therapy. Spearman's correlations were used to evaluate the correlation between behavioural and brain activity changes.ResultsThe same fronto-parietal network was identified before and after therapy. After the intervention, the more-affected hand manipulation elicited a decrease in activity on the motor cortex of the non-lesional hemisphere and an increase in activity on motor areas of the lesional hemisphere. The less-affected hand manipulation generated a decrease in activity of sensorimotor areas in the non-lesional hemisphere. Both-hands manipulation elicited an increase in activity of both hemispheres. Furthermore, we observed an association between brain activity changes and changes in everyday activity assessments.ConclusionBrain activation changes were observed in a fronto-parietal network underlying motor skill learning with HABIT-ILE in children with USCP. Two different patterns were observed, probably related to different phases of motor skill learning, representing an increased practice-dependent brain recruitment or a brain activation refinement by more efficient means.ClinicalTrials.govNCT01700777 & NCT02667613. 相似文献
23.
《Journal of hand therapy》2019,32(4):426-434.e1
Study DesignSystematic review.IntroductionChildren with cerebral palsy (CP) may have limited use of their hands for functional activities and for fine motor skills. Virtual reality (VR) is a relatively new and innovative approach to facilitate hand function in children with CP.Purpose of the StudyThe primary purpose of this study was to determine the effectiveness of VR as an intervention to improve hand function in children with CP compared to either conventional physiotherapy or other therapeutic interventions. The secondary purpose was to classify the outcomes evaluated according to the International Classification of Functioning, Disability and Health (ICF) dimensions.MethodsA International prospective register of systematic reviews (PROSPERO)-registered literature search was carried out in August 2015 in MEDLINE, CINAHL, ERIC, HealthSTAR, AMED, BNI, Embase, PsycINFO, PEDro, Cochrane Central Register, DARE, OTSeeker, REHABDATA, HaPI, CIRRIE, and Scopus. PRISMA guidelines were followed. Only randomized controlled trials (RCTs) were included, and their methodological qualities were examined using the Cochrane collaboration's risk of bias (RoB) tool. A narrative synthesis was performed.ResultsThe 6 RCTs published on this topic provide conflicting results. Four studies reported improved hand function (2 low RoB, 1 high RoB, and 1 unclear RoB), whereas 2 studies reported no improvement. All of the RCTs reported the activity element of ICF, but no study explicitly described the effect of VR intervention based on the ICF model.ConclusionThe role of VR ti imrpove hand fucntion in children with CP is unclear due to limited evidence; use as an adjunct has some support. 相似文献
24.
Selective blocking laminoplasty in cervical laminectomy and fusion to prevent postoperative C5 palsy
BACKGROUND CONTEXT
Cervical laminectomy and fusion (CLF) is a common surgical option for multilevel cord compression. Postoperative C5 palsy occurrence after CLF has been a vexing problem for spine physicians. The posterior shift of the cord following laminectomy has been implicated as a major factor for postoperative C5 palsy, but attempts by spine surgeons to mitigate excessive shift while providing sufficient decompression have not been well reported.PURPOSE
To compare the incidence of postoperative C5 palsy after performing selective blocking laminoplasty concurrently with CLF to those of conventional CLF.STUDY DESIGN
A retrospective comparative study of prospectively collected data.PATIENT SAMPLE
Of 116 cervical myelopathy patients with degenerative cervical myelopathy, ossification of the posterior longitudinal ligament, and multilevel disc herniation, 93 patients (69 in group A [CLF group] and 24 in group B [selective blocking laminoplasty with CLF, CLF-S group]) were included in the study.OUTCOME MEASURES
The primary outcome measure was the occurrence of postoperative C5 palsy. Secondary end points included (1) clinical outcomes based on pain intensity, neck disability index (NDI), Japanese Orthopaedic Association (JOA) score, (2) radiologic outcomes including cervical alignment and fusion rate at 1 year and hardware complications, and (3) perioperative data (hospital stay, blood loss, and operative times).METHODS
We compared the occurrence of postoperative C5 palsy, as well as clinical, radiologic, and surgical outcomes, between the two groups at 1-year follow-up.RESULTS
The patients in both groups were statistically similar between the groups with respect to demographic characteristics such as age, sex, smoking status, body mass index, preoperative pathology, surgical segments, and the degree of the cervical lordosis. Postoperative C5 palsy developed in 9 of 61 patients (14%) in group A and in 0 of 24 patients (0%) in group B (CLF-S group) (p=.03). Postoperative neck pain, NDI, and JOA improvement were not significantly different between the two groups (p=.93, 0.90, and 0.79, respectively). Perioperative data did not differ significantly between the two groups.CONCLUSIONS
This study showed that performing selective blocking laminoplasty might lead to reducing the incidence of postoperative C5 palsy in CLF surgery. 相似文献25.
目的:应用Meta分析评价肌电生物反馈治疗痉挛型脑瘫的作用。方法:检索PubMed、Embase、Cochrane图书馆及中国生物医学文献数据库、CNKI、维普、万方数据库中2009年1月~2019年6月关于肌电生物反馈治疗痉挛型脑瘫的随机对照试验,利用RevMan 5.3软件进行Meta分析。结果:纳入10项随机对照试验,共613个病例;肌电生物反馈可以改善脑瘫患儿踝关节活动度(MD=5.06,95%CI=4.01~6.10,P<0.01),改善粗大运动功能(GMFM D区MD=3.75,95%CI=2.75~4.75,P<0.01;GMFM E区MD=6.04,95%CI=4.82~7.26,P<0.01),改善腓肠肌痉挛程度(MD=5.19,95%CI=-0.52^-0.39,P<0.01)。结论:肌电生物反馈在改善脑瘫患儿下肢运动功能方面具有一定效果,但所纳入研究的方法有局限性,还需更严格的设计和高质量的研究方法进一步证明。 相似文献
26.
《Annals of physical and rehabilitation medicine》2019,62(4):283-290
BackgroundBotulinum toxin (BTX) injection alone is not sufficient to treat spasticity in children, notably those with cerebral palsy; thus, there is an emerging trend for adjunct therapies to offer greater outcomes than BTX alone.ObjectiveThe aim of this systematic review was to evaluate the general effectiveness of adjunct therapies regardless of their nature in children with spasticity.MethodsMedline, Cochrane and Embase databases were searched from January 1980 to March 15, 2018 for reports of parallel-group trials (randomized controlled trials [RCTs] and non-RCTs) assessing adjunct therapies after BTX injection for treating spasticity in children. Two independent reviewers extracted data and assessed the risk of bias by using the PEDro scale for RCTs and Downs and Black scale (D&B) for non-RCTs.ResultsOverall, 20 articles involving 662 participants met the inclusion criteria. The average quality was good for the 16 RCTs (mean PEDro score 7.4 [SD 1.6]) and poor to moderate for the 4 non-RCTs (D&B score 9 to 17). Adjunct therapies consisted of casting/posture, electrical stimulation, resistance training and rehabilitation programmes. Casting associated with BTX injection improved the range of passive and active motion and reduced spasticity better than did BTX alone (9 studies), with a follow-up of 1 year. Resistance training enhanced the quality and performance of muscles without increasing spasticity. Only 3 rehabilitation programmes were studied, with encouraging results for activities.ConclusionLower-limb posture with casting in children has a high level of evidence, but the long-term efficacy of short-leg casting needs to be evaluated. A comparison between the different modalities of casting is missing, and studies specifically devoted to testing the different kinds of casting are needed. Moreover, the delay to casting after BTX injection is not clear. Data on electrical stimulation are not conclusive. Despite the small number of studies, resistance training could be an interesting adjunct therapy notably to avoid loss of strength after BTX injection. Rehabilitation programmes after BTX injection still need to be evaluated. 相似文献
27.
《Gait & posture》2021
BackgroundThe use of Instrumented Gait Analysis (IGA) for the clinical management of individuals with cerebral palsy (CP) has increased in recent years. Previous systematic reviews have been completed to evaluate and summarize the evidence related to the efficacy of IGA in general. However, a focused summary of research studies on IGA for children with CP related gait disorders is needed.Research QuestionThe purpose of the current work was to perform a scoping review to describe and categorize the range of existing literature about IGA as applied to the clinical management of children with CP related gait disorders.MethodA health sciences librarian developed a search strategy to include four key inclusion criteria of original research study, population included children with CP, study employed IGA, available in English. The available literature was organized into six study categories: reliability and validity, documentation of subgroups or model development, IGA for clinical decision making, effectiveness of treatments that depend on IGA, cost effectiveness, IGA used to evaluate the outcome of surgical, medical or rehabilitation treatment.Results909 studies met the inclusion criteria and were placed into the six study categories. 14 % of studies were in reliability and validity, 33 % in subgroups or modeling, 2% in IGA for clinical decision making, 2% in treatments that depend on IGA, 1% in cost effectiveness, and 49 % of studies had IGA used as an outcome measure for treatment.SignificanceThis scoping review has documented the wide range, diversity and extent of original research studies investigating the use of IGA for the clinical management of children with CP related gait disorders. The large volume of studies provides a basis for future work to develop a CPG about the use of IGA for the clinical management of children with CP related gait disorders. 相似文献
28.
《Vaccine》2021,39(40):5729-5731
IntroductionConcerns were raised over an increase in Bell's palsy, herpes simplex and herpes zoster after BNT162b2 vaccination, all are manifestations of herpesviruses reactivation. As herpesviruses commonly reactivate in the oropharynx, we have hypothesized that oropharyngeal shedding of herpesviruses will increase after vaccination.MethodsImmune-competent Adults, excluding those using topical steroids or manifesting symptomatic herpesvirus infection, were sampled before BNT162b2 vaccination and one week after. Herpesviruses 1–7 shedding was tested with a multiplexed PCR.ResultsIn 103 paired samples the prevalence of herpesviruses was similar before and after vaccination: HSV1, 3.9% vs. 5.8% (p = 0.75); HSV2, 0% vs. 1% (p = not applicable, NA); VZV, 0% vs. 0% (p = NA); EBV, 14.6% vs. 17.5% (p = 0.63); CMV, 0% vs. 0% (p = NA); HHV6, 4.9% vs. 7.8% (p = 0.55); HHV7, 71.8% vs. 72.8% (p = 1); any herpesvirus, 73.8% vs. 74.8% (p = 1).DiscussionWe did not find evidence for increased oropharyngeal reactivation of herpesviruses one week after BNT162b2. 相似文献
29.
30.
目的:分析探讨近20年针灸治疗脑瘫取穴配伍特点及规律。方法:检索近20年CNKI、万方及维普数据库收录的针灸治疗脑瘫的相关文献,运用Excel及中医传承辅助平台软件分析数据。结果:研究共纳入文献311篇,取穴应用频次最多的为足三里、百会、四神聪、合谷、曲池、三阴交和阳陵泉,使用频次居前三位的经脉是督脉、足少阳胆经、手阳明大肠经,且取穴所在位置集中在下肢部、头颈部、上肢部,所选腧穴中特定穴以交会穴、五输穴、下合穴数量居多。穴位配伍百会和四神聪,合谷和足三里,曲池和合谷是针灸治疗脑瘫所取用的使用频次较高的腧穴配伍。结论:针灸治疗脑瘫具有注重四肢及头部选穴、侧重阳经取穴、注重特定穴的使用、重视上下配穴法的规律特点。 相似文献