早产儿早期神经运动干预研究进展

随着医疗救治水平的不断提高,早产儿的存活率明显增加,但早产常易伴发脑性瘫痪、运动和认知障碍等一系列神经发育问题,给家庭、社会带来沉重负担。生命早期大脑发育迅速,可塑性强,是进行早期运动干预的良好时机。本文就早产儿早期神经运动干预进行综述,旨在为临床医护人员对早产儿进行适宜有效的运动干预提供参考。     

Motor dysfunction in mild cognitive impairment as tested by kinematic analysis and transcranial magnetic stimulation

ObjectivePrevious studies have demonstrated voluntary movement alterations as well as motor cortex excitability and plasticity changes in patients with mild cognitive impairment (MCI). To investigate the pathophysiology of movement abnormalities in MCI, we tested possible relationships between movement abnormalities and primary motor cortex alterations in patients.MethodsFourteen amnestic MCI (aMCI) patients and 16 healthy controls were studied. Cognitive assessment was performed using clinical scales. Finger tapping was recorded by a motion analysis system. Transcranial magnetic stimulation was used to test the input/output curve of motor evoked potentials, intracortical inhibition, and short-latency afferent inhibition. Primary motor cortex plasticity was probed by theta burst stimulation. We investigated correlations between movement abnormalities, clinical scores, and cortical neurophysiological parameters.ResultsMCI patients showed less rhythmic movement but no other movement abnormalities. Cortical excitability measures were normal in patients, whereas plasticity was reduced. Movement rhythm abnormalities correlated with frontal dysfunction scores.ConclusionOur study in MCI patients demonstrated abnormal voluntary movement and plasticity changes, with no correlation between the two. Altered rhythm correlated with frontal dysfunction.SignificanceOur results contribute to the understanding of pathophysiological mechanisms of motor impairment in MCI.     

正电子放射性药物自动分装注射系统的设计与测试

目的 设计研发新型正电子放射性药物自动分装注射系统,以实现精准药物活度注射,简化注射流程,降低职业照射。方法 选择钨合金作为屏蔽材料,采用基于单片机控制步进电机驱动技术,设计机械驱动模块、管路系统、控制软件。制作设备及相关配套装置。测量防护效能和性能。结果 自动分装注射放射性药物时间约60 s,设备50次稳定性测试空白试验的成功率100%。系统整体注射活度的分装误差≤3%;设备箱体屏蔽40 mmPb,台面屏蔽60 mmPb,隔离防护屏蔽15 mmPb,内置钨合金原液罐50 mmPb。距离运行中设备30 cm处平均剂量率为1.44 μSv/h。操作人员肢端辐射剂量较使用注射器防护套注射操作降低99%以上。结论 自动分装注射系统操作简便,分装精度高,重复性好,防护安全,达到设计功能和放射防护要求。     

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients with a mild phenotype with AADC deficiency have been reported, but they number only a few cases. Therefore, the variation of phenotypes of the disease appears to be broad, and it may be challenging to diagnose an atypical phenotype as AADC deficiency.Case reportWe report novel compound heterozygous variants in DDC (c.202G > A and c.254C > T) in two sisters, whose main complaint was mild developmental delay, by whole-exome sequencing (WES). Additionally, we describe their clinical features and provide an image that shows the variants located at different sites responsible for the catalysis of AADC in a three-dimensional structure. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis.InterpretationOur cases indicate that a comprehensive genomic approach helps to diagnose AADC deficiency with atypical features, and underscore the significance of understanding the variations of this disorder for diagnosis and appropriate treatment.     

Synapsin III gene silencing redeems alpha-synuclein transgenic mice from Parkinson's disease-like phenotype

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Efficacy of the cognitive orientation to daily occupational performance with Brazilian children with developmental coordination disorder

Background: Children with Developmental Coordination Disorder (DCD) have difficulties performing daily activities which reflects negatively on participation, impacting their lives.

Objectives: To examine the effects of the cognitive orientation to daily occupational performance Approach (CO-OP Approach) protocol on occupational performance and satisfaction of Brazilian children who have DCD; to examine whether children could transfer strategies and skills learned during CO-OP to untrained goals.

Methods: A pre-post group comparison design with eight boys aged 6–10 years old. Children participated in 12 CO-OP sessions with their parents twice a week, with an extra session added to the protocol for parents´ orientation. The Canadian Occupational Performance Measure and the Performance Quality Rating Scale were used as outcome measures. The study was registered by the United States Institutes of Health at ClinicalTrials.gov (NCT03112746).

Results: Intervention resulted in higher, clinically and statistically significant, occupational performance measures according to parents, children’s, and external evaluators’ perspectives. All children improved occupational performance on their selected goals and five children could transfer the ability to use cognitive strategies to tasks not addressed in therapy.

Conclusions: This study provides initial directions for future research to investigate the applicability and to implement CO-OP approach on pediatric settings in Brazil.