Objective To observe the cerebral activation pattern in patients with cervical dystonia (CD) during finger movements and the changes caused by botulinum toxin injection by functional MRI.The possible etiological mechanism of CD and effect of peripheral botulinum toxin treatment on the level of central nerves system are investigated.Methods A designed functional MRI block with complex finger movements was applied and 11 patients with CD as well as 11 age and gender matched controls were scanned.Compare the activation pattern of CD pre/post treatment groups versus health controls.Evaluate and compare the symtom severity with Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS).Make a correlation analysis between activation pattern alteration and TWSTRS change in CD pre/post treatment groups.Results An reduced extent of activation in patients with CD was demonstrated compared to healthy controls in ipsilateral putamen,prefrontal cortex and contralateral somatosensory cortex to the direction of the head deviation,while an elevated extent of activation in ipsilateral precuneus and fusiform with statistic significance.At the time point of 4 weeks after botulinum toxin treatment patients showed no evident difference with healthy controls except for the decreased activation in contralateral precuneus to the direction of the head deviation.TWSTRS of patients with CD decreased from (20.02 ± 5.52) to (4.11 ± 4.34) with statistic significance (t =11.71,P =0.000) after botulinum toxin treatment.There was a positive correlation between cerebral activation pattern change in some cerebral areas (ipsilateral primary somatosensory cortex,premotor cortex,supplementary motor cortex,insula,fusiform,hippocampus with parahippocampa as well as contralateral middle temporal cortex and hippocampus with parahippocampa to the direction of the head deviation) and TWSTRS score decrease.Conclusions There are widespread abnormalities in cortical and subcortical activation pattern in patients with CD,which might due to dysfunction of sensory-motor integration.We speculate a basic pre-dystonic state is present in affected body parts prior to clinical symptoms appear.Botulinum toxin fulfills its subsequent central effect by reorganizing and normalizing the cerebral cortex in patients with CD.

Objective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given.Conclusions Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck,and the next is the right arm.The most frequently affected anatomical site is the neck,next come lower face,jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations,mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia.

OBJECTIVETo explore permeability of artificial blood-brain barrier (aBBB) by oxygen-glucose deprivation combined (OGD)-induced using tetramethylpyrazine combined with puerarin in vitro.

METHODRats were divided into normal control group, model group, tetramethylpyrazine group, puerarin group, tetramethylpyrazine-puerarin group and nimodipine group. Culture rat brain microvascular endothelial cells and astrocytes in vitro and build the OGD-induced aBBB damage model. Evaluate aBBB damage characteristics by TEER, gamma-GT, AKP and LDH. Determine contents of tetramethylpyrazine, puerarin, nimodipine and calculate drug permeating concentration of OGD-induced aBBB model by HPLC.

RESULTCompared with the model, the level of TEER was lower than the control group with significant difference (P < 0.01). The levels of gamma-GT, AKP in tetramethylpyrazine group, tetramethylpyrazine-puerarin group and nimodipine group were higher than the model group, the differences were significant (P < 0.01). Compared with tetramethylpyrazine group or puerarin group, the level of AKP of tetramethylpyrazine-puerarin group increased significantly (P < 0.01). The differences of levels of TEER, gamma-GT, AKP and LDH between tetramethylpyrazine-puerarin group and nimodipinthe group were significant (P < 0.05). Tetramethylpyrazine-puerarin group has a synergistic effect of increasing TEER, gamma-GT, AKP and reducing LDH. The permeating rate in tetramethylpyrazine-puerarin group was higher than tetramethylpyrazine group and puerarin group.

CONCLUSIONTetramethylpyrazine-puerarin can permeate aBBB more easily and protect aBBB. The cause may relate to reducing the permeability of the OGD-induced aBBB.

Animals ; Blood-Brain Barrier ; drug effects ; Drug Combinations ; Glucose ; physiology ; Isoflavones ; administration & dosage ; pharmacology ; Male ; Oxygen ; physiology ; Permeability ; Pyrazines ; administration & dosage ; pharmacology ; Rats ; Rats, Sprague-Dawley

Extraction and analysis of electroencephalogram (EEG) signal characteristics of patients with autism spectrum disorder (ASD) is of great significance for the diagnosis and treatment of the disease. Based on recurrence quantitative analysis (RQA)method, this study explored the differences in the nonlinear characteristics of EEG signals between ASD children and children with typical development (TD). In the experiment, RQA method was used to extract nonlinear features such as recurrence rate (RR), determinism (DET) and length of average diagonal line (LADL) of EEG signals in different brain regions of subjects, and support vector machine was combined to classify children with ASD and TD. The research results show that for the whole brain area (including parietal lobe, frontal lobe, occipital lobe and temporal lobe), when the three feature combinations of RR, DET and LADL are selected, the maximum classification accuracy rate is 84%, the sensitivity is 76%, the specificity is 92%, and the corresponding area under the curve (AUC) value is 0.875. For parietal lobe and frontal lobe (including parietal lobe, frontal lobe), when the three features of RR, DET and LADL are combined, the maximum classification accuracy rate is 82%, the sensitivity is 72%, and the specificity is 92%, which corresponds to an AUC value of 0.781. The research in this paper shows that the nonlinear characteristics of EEG signals extracted based on RQA method can become an objective indicator to distinguish children with ASD and TD, and combined with machine learning methods, the method can provide auxiliary evaluation indicators for clinical diagnosis. At the same time, the difference in the nonlinear characteristics of EEG signals between ASD children and TD children is statistically significant in the parietal-frontal lobe. This study analyzes the clinical characteristics of children with ASD based on the functions of the brain regions, and provides help for future diagnosis and treatment.
Autism Spectrum Disorder/diagnosis* ; Autistic Disorder ; Brain ; Child ; Electroencephalography ; Humans ; Recurrence

As medical advances and surgical techniques have improved the survival rates of children with congenital heart disease (CHD), more and more studies have begun to focus on the quality of survival and long-term development of children with CHD. Cognitive and psychological developmental deficits in children with CHD have been well documented. With the development of brain function assessment and neuroimaging techniques in recent years, it has become possible to elucidate the mechanisms of neurocognitive impairment in patients with CHD from a brain science perspective. Providing targeted early follow-up interventions for the population with CHD and promoting their social adaptation have a great clinical significance. This review summarized recent research findings on neurocognitive developmental outcomes in children with CHD from the perspective of behavioral medicine and brain science. This paper focuses on reviewing the mechanisms of brain microstructure damage and brain network dysfunction which may explain neurocognitive impairment in children with CHD, and further explores the early monitoring and intervention programs suitable for clinical development, aiming to suggest possible directions for improving long-term neurocognitive developmental outcomes for CHD population.

Small for gestational age (SGA) infants are more likely to experience neurocognitive impairments compared to appropriate for gestational age (AGA) infants. This paper reviews recent research on the neurocognitive development of SGA children. SGA can lead to a "brain-sparing effect" due to growth restriction, which may affect cerebral blood flow and brain structure. However, this does not guarantee normal brain development. Restrictive blood flow can result in changes in brain structure, such as reduced total white matter and gray matter volume in various brain regions, including the cerebral cortex, hippocampus and cerebellum, ultimately leading to decreased head circumference. SGA children also exhibit lower scores in all neurocognitive domains, including intelligence, attention, memory, and executive function. This may result in poor academic performance and an increased risk of social, behavioral, and neurological problems, such as cerebral palsy, epilepsy, visual and hearing impairments, as well as comorbidities like attention deficit hyperactivity disorder(ADHD), autism spectrum disorder(ASD), anxiety, depression, and schizophrenia. Several risk factors for SGA-related neurocognitive impairments have been identified, including gestational hypertension, abnormal gestational weight, smoking, and catch-up growth. Studies have shown that the best interventions to improve cognitive dysplasia include nutrient supplementation, continued breastfeeding, high-quality education, and appropriate early intervention (responsive parenting) are effective in improving cognitive outcomes for SGA children.