Background: Epilepsy is a chronic neurologic disorder characterized by abnormal functioning of brain networks, making it a complex research topic. Recent advancements in neuroimaging technology offer an effective approach to unraveling the intricacies of the human brain. Within different types of epilepsy, there is growing recognition regarding ongoing changes in the default mode network (DMN). However, little is known about the shared and distinct alterations of static functional connectivity (sFC) and dynamic functional connectivity (dFC) in DMN among epileptic subtypes, especially in children with epilepsy. Methods: Here, 110 children with epilepsy at a single center, including idiopathic generalized epilepsy (IGE), frontal lobe epilepsy (FLE), temporal lobe epilepsy (TLE), and parietal lobe epilepsy (PLE), as well as 84 healthy controls (HC) underwent resting-state functional magnetic resonance imaging (fMRI) scan. We investigated both sFC and dFC between groups of the DMN. Results: Decreased static and dynamic connectivity within the DMN subsystem were shared by all subtypes. In each epilepsy subtype, children with epilepsy displayed significant and distinct patterns of DMN connectivity compared to the control group: the IGE group showed reduced interhemispheric connectivity, the FLE group consistently demonstrated disturbances in frontal region connectivity, the TLE group exhibited significant disruptions in hippocampal connectivity, and the PLE group displayed a notable decrease in parietal-temporal connectivity within the DMN. Some state-specific FC disruptions (decreased dFC) were observed in each epilepsy subtype that cannot detect by sFC. To determine their uniqueness within specific subtypes, bootstrapping methods were employed and found the significant results (IGE: between PCC and bilateral precuneus, FLE: between right middle frontal gyrus and bilateral middle temporal gyrus, TLE: between left Hippocampus and right fusiform, PLE: between left angular and cingulate cortex). Furthermore, only children with IGE exhibited dynamic features associated with clinical variables. Conclusions: Our findings highlight both shared and distinct FC alterations within the DMN in children with different types of epilepsy. Furthermore, our work provides a novel perspective on the functional alterations in the DMN of pediatric patients, suggesting that combined sFC and dFC analysis can provide valuable insights for deepening our understanding of the neuronal mechanism underlying epilepsy in children.

Background Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and compared the differences in cell types between two tumors by single-cell RNA sequencing (scRNA-seq) technology. Methods ScRNA-seq was performed to profile cells from cancer tissue from anaplastic ependymoma patient and H3K27M-mutant diffuse midline glioma patient. Cell clustering, marker gene identification, cell type annotation, copy number variation analysis and function analysis of differentially expressed genes were then performed. Results A total of 11,219 cells were obtained from anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and these cells categorized into 12 distinct clusters. Each cell cluster could be characterized with specific cell markers to indicate cellular heterogeneity. Five cell types were annotated in each sample, including astrocyte, oligodendrocytes, microglial cell, neural progenitor cell and immune cell. The cluster types and proportion of cell types were not consistent between the two brain tumors. Functional analyses suggest that these cell clusters are involved in tumor-associated pathways, with slight differences in the cells of origin between the two tumors. In addition, cell communication analysis showed that the NRG3-ERBB4 pair is a key Ligand-receptor pair for anaplastic ependymoma, while in H3K27M-mutant diffuse midline glioma it is the PTN-PTPRZ1 pair that establishes contact with other cells. Conclusion There was intratumor heterogeneity in anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and that the subtype differences may be due to differences in the origin of the cells.

Craniectomy is a lifesaving procedure to alleviate dangerously high intracranial pressure by removing a bone flap from the calvarium. However, the osteointegration of reimplanted bone flap with the existing bone tissue is still a clinical challenge. Hyperbaric oxygen (HBO) therapy has shown efficacy in promoting bone repair and could be a promising treatment for accelerating postoperative recovery. However, the specific cell types that are responsive to HBO treatment are not well understood. In this study, we created a murine model of craniectomy, with reimplantation of the cranial flap after 1 week. The effects of HBO treatment on bone formation and blood vessel formation around reimplanted bone were examined by micro-computed tomography, histological staining, and immunofluorescence staining. Single-cell RNA sequencing (scRNAseq) was utilized to identify key cell subtypes and signaling pathways after HBO treatment. We found that HBO treatment increased bone volume around reimplanted cranial flaps. HBO also increased the volume of Osterix-expressing cells and type H vessels. scRNAseq data showed more mature osteoblasts and endothelial cells, with higher expressions of adhesion and migration-related genes after HBO treatment. Cell-cell interaction analysis revealed a higher expression level of genes between mature osteoblasts and endothelial cells from the angiopoietin 2-integrin α5β1 pathway. Taken together, HBO therapy promotes the healing process of craniectomy by regulating the crosstalk between vascular endothelial cells and osteogenic cells. These findings provide evidence in a preclinical model that HBO therapy enhances osteointegration by regulating angiogenesis-osteogenesis coupling, providing a scientific basis for utilizing HBO therapy for accelerating postoperative recovery after craniectomy.

IntroductionGeneralized tonic-clonic seizures (GTCS) are a subtype of generalized seizures exhibiting bursts of bilaterally synchronous generalized spike-wave discharges. Numerous neuroimaging studies have reported aberrant functional activity and topological organization of brain network in epilepsy patients with GTCS, but most studies have focused on adults. However, the effect of GTCS on the spatial and temporal properties of brain function in children remains unclear. The present study aimed to explore whole-brain static (sFC) and dynamic functional connectivity (dFC) in children with GTCS.MethodsTwenty-three children with GTCS and 32 matched healthy controls (HCs) were recruited for the present study. Resting-state functional magnetic resonance imaging (MRI) data were collected for each subject. The group independent component analysis method was used to obtain independent components (ICs). Then, sFC and dFC methods were applied and the differences in functional connectivity (FC) were compared between the children with GTCS and the HCs. Additionally, we investigated the correlations between the dFC indicators and epilepsy duration.ResultsCompared to HCs, GTCS patients exhibited a significant decrease in sFC strengths among most networks. The K-means clustering method was implemented for dFC analysis, and the optimal number of clusters was estimated: two discrete connectivity configurations, State 1 (strong connection) and State 2 (weak connection). The decreased dFC mainly occurred in State 1, especially the dFC between the visual network (VIS) and somatomotor network (SMN); but the increased dFC mainly occurred in State 2 among most networks in GTCS children. In addition, GTCS children showed significantly shorter mean dwell time and lower fractional windows in stronger connected State 1, while GTCS children showed significantly longer mean dwell time in weaker connected State 2. In addition, the dFC properties, including mean dwell time and fractional windows, were significantly correlated with epilepsy duration.ConclusionOur results indicated that GTCS epilepsy not only alters the connectivity strength but also changes the temporal properties of connectivity in networks in the whole brain. These findings also emphasized the differences in sFC and dFC in children with GTCS. Combining sFC and dFC methods may provide more comprehensive understanding of the abnormal changes in brain architecture in children with GTCS.

OBJECTIVE:We aimed to determine whether alterations in spontaneous regional brain activity in those with generalized tonic-clonic seizures (GTCS) and focal to bilateral tonic-clonic seizures (FBTCS) and explore whether the alterations could be used as biomarkers to classify disease subtypes through support vector machine analysis (SVM). METHODS:The fractional amplitude of low-frequency fluctuations (fALFF) and regional homogeneity (ReHo) from resting-state functional magnetic resonance imaging (rs-fMRI) data were extracted from 57 patients with GTCS, 35 patients with FBTCS, and 50 age-matched and sex-matched normal controls (NCs) using the DPARSF 5.0 toolbox. Between-group comparisons were adjusted for covariates (age, sex, and equipment). Correlation analyses between imaging biomarkers and the frequency or duration of seizure activity were calculated using partial correlations. The differential imaging indicators, age, and sex were considered as the discriminative features in the SVM to evaluate classification performance. RESULTS:The patients with GTCS showed lower fALFF values (voxel p < 0.001, cluster p < 0.05, Gaussian random field corrected, GRF corrected) in the right postcentral gyrus and precentral gyrus and lower ReHo values (GRF corrected) in the middle temporal gyrus than the NCs. The patients with FBTCS showed higher fALFF (GRF corrected) values in the right postcentral and precentral gyrus and higher ReHo (GRF corrected) values in the right postcentral gyrus. Both fALFF (GRF corrected) and ReHo (GRF corrected) values were lower in the right postcentral gyrus and precentral gyrus in the GTCS group than in the FBTCS group. In patients with FBTCS, fALFF values in the right postcentral and precentral gyrus were positively correlated with duration (r = 0.655, p = 0.008, Bonferroni corrected) in the low-duration group, and ReHo values in the right postcentral gyrus were positively correlated with frequency (r = 0.486, p = 0.022, uncorrected) in the low-frequency group. SVM results showed receiver operating characteristic curves of 0.89, 0.87, and 0.76 for the classification between GTCS and NC, between FBTCS and NC, and GTCS and FBTCS, respectively. SIGNIFICANCE:This study detected alterations in fALFF and ReHo in the postcentral gyrus and precentral gyrus in patients with GTCS and FBTCS, which might contribute to understanding the pathogenesis, disease classification, and clinical targeted therapy.

OBJECTIVE:Generalized tonic-clonic seizures (GTCS) is a group of epileptic disorders characterized by widespread generalized spike-and-waves discharges along with unresponsiveness and convulsions. Abnormal connectivity in the DMN is the common findings in children with generalized epilepsy. However, the neural mechanisms underlying the altered brain connectivity of DMN in children with GTCS remain unclear. The aim of the current study was to explore the temporal properties of functional connectivity states by dynamic functional connectivity (dFC) within the DMN of GTCS children.METHODS:We collected resting-state functional MRI data from 22 GTCS children and 29 age-matched healthy controls. Sliding window approach and k-mean clustering analysis were applied to analyze the dFC and identify transient states of the DMN. Furthermore, the relationship between the dynamic properties and clinical features was assessed.RESULTS:The dFC analyses identified two reoccurring states: a more frequent and weak connected state (State 1) and a less frequent and strong connected state (State 2). Relative to the normal control, GTCS children spent more time in State 1 showing weak connections and spent less time in State 2 showing strong connections. Dynamic functional network connectivity strength within the DMN showed both increase and decrease in patient group. In addition, the changes of dynamic metric were found to be correlated with epilepsy duration.SIGNIFICANT:Our findings imply abnormal interactions and the state dynamics in DMN of the children with GTCS. These disruptions of temporal dynamic in DMN may provide significance for understanding the neural mechanism underlying the GTCS in children and suggest that dFC method can be considered as a valuable tool in children with epilepsy.

Background: This study analyzed the diagnosis, treatment, and multidisciplinary teamwork of childhood brain tumors treated at a tertiary children's hospital in South China to better understand the challenges and opportunities in a resource -limited district. Methods: One hundred and seventy-seven cases were included at Shenzhen Children's Hospital (SZCH) from January 2015 to December 2018. The distribution of patients, pathology, management, and outcome were retrospectively studied. Results: The number of patients increased steadily from 2015 (29 cases) to 2018 (54 cases). The median age at diagnosis was 4.8 years (range, 3 months to 16 years), and the male to female ratio was 1.5:1. Eightyeight percent of the patients (155/177) underwent surgery with a documented histology; the remaining patients were diagnosed based on radiological findings and clinical manifestations due to challenges in obtaining pathological diagnoses. The most common pathological types were glioma, medulloblastoma, and ependymoma, accounting for 35.6% (63/177), 20.9% (37/177), and 10.7% (19/177), respectively. Treatment included surgery (resection, biopsy, or cerebrospinal fluid diversion, 90.4%), chemotherapy (53.7%), radiotherapy (49.2%), and high dose chemotherapy followed by autologous hematopoietic stem cell transplantation (five patients). Of the 87 patients who required radiotherapy, only five were treated in Shenzhen; the other patients received radiotherapy at different institutions, and seven of these were eventually lost to follow-up. The 5 -year event -free survival (EFS) and overall survival (OS) rates were 53.1%+/- 4.2% and 63.7%+/- 4.2%, respectively. Conclusions: There has been a growing incidence of pediatric neuro-oncological patients in recent years. Options for adjuvant treatment have been implemented that range from chemotherapy to radiation to high dose chemotherapy with stem cell rescue. In resource -limited countries, the survival rate of pediatric brain tumors is still unsatisfactory, and it is essential to strengthen multidisciplinary collaboration for holistic care that also includes the management of long-term sequelae.

Introduction:The aim of the present study was to examine interhemispheric functional connectivity (FC) and topological organization within the default-mode network (DMN) in children with generalized tonic-clonic seizures (GTCS).Methods:Resting-state functional MRI was collected in 24 children with GTCS and 34 age-matched typically developing children (TDC). Between-group differences in interhemispheric FC were examined by an automated voxel-mirrored homotopic connectivity (VMHC) method. The topological properties within the DMN were also analyzed using graph theoretical approaches. Consistent results were detected and the VMHC values were extracted as features in machine learning for subject classification.Results:Children with GTCS showed a significant decrease in VMHC in the DMN, including the hippocampal formation (HF), lateral temporal cortex (LTC), and angular and middle frontal gyrus. Although the patients exhibited efficient small-world properties of the DMN similar to the TDC, significant changes in regional topological organization were found in the patients, involving the areas of the bilateral temporal parietal junction, bilateral LTC, left temporal pole, and HF. Within the DMN, disrupted interhemispheric FC was found between the bilateral HF and LTC, which was consistent with the VMHC results. The VMHC values in bilateral HF and LTC were significantly correlated with clinical information in patients. Support vector machine analysis using average VMHC information in the bilateral HF and LTC as features achieved a correct classification rate of 89.34% for the classification.Conclusion:These results indicate that decreased homotopic coordination in the DMN can be used as an effective biomarker to reflect seizure effects and to distinguish children with GTCSs from TDC.

ObjectiveA number of studies in adults and children with generalized tonic-clonic seizure (GTCS) have reported the alterations in morphometry, functional activity, and functional connectivity (FC) in the thalamus. However, the neural mechanisms underlying the alterations in the thalamus of patients with GTCS are not well understood, particularly in children. The aim of the current study was to explore the temporal properties of functional pathways connecting thalamus in children with GTCS.MethodsHere, we recruited 24 children with GTCS and 36 age-matched healthy controls. Static and dynamic FC approaches were used to evaluate alterations in the temporal variability of thalamo-cortical networks in children with GTCS. The dynamic effective connectivity (dEC) method was also used to evaluate the directions of the fluctuations in effective connectivity. In addition, the relationships between the dynamic properties and clinical features were assessed.ResultsThe static FC analysis presented significantly decreased connectivity patterns between the bilateral thalamus and between the thalamus and right inferior temporal gyrus. The dynamic connectivity analysis found decreased FC variability in the thalamo-cortical network of children with epilepsy. Dynamic EC analyses identified increased connectivity variability from the frontal gyrus to the bilateral thalamus, and decreased connectivity variability from the right thalamus to the left thalamus and from the right thalamus to the right superior parietal lobe. In addition, correlation analysis revealed that both static FC and connectivity temporal variability in the thalamo-cortical network related to the clinical features (epilepsy duration and epilepsy onset time).SignificanceOur findings of both increased and decreased connectivity variability in the thalamo-cortical network imply a dynamic restructuring of the functional pathways connecting the thalamus in children with GTCS. These alterations in static and temporal dynamic pathways connecting the bilateral thalamus may extend our understanding of the neural mechanisms underlying the GTCS in children.

Objective:To study the clinical effect and influencing factors of cryopreserved autologous skull bone repair in children.Methods:The clinical data of 62 children who underwent autologous skull bone repair with cryopreservation from July 2013 to December 2020 were analyzed retrospectively. The CT examination was performed within 1 week, 3, 6, 12 months after operation, and the follow-up was conducted for 3 years. The complications of autocraniectomy were summarized and the related risk factors were analyzed.Results:The infection rate was 0% after cryopreservation and terminal disinfection preservation autologous skull bone. Eleven cases were repaired with artificial materials due to skull bone flap resorption. The average time of second repair was 18 months after the operation. The results of risk factors analysis at 6 months after the operation showed that age, bone flap area and large area of cerebral malacia were the risk factors affecting the resorption of autologous skull bone (P<0.05).Conclusion:Cranioplasty with cryopreserved autologous skull bone in the treatment of children with secondary skull defect has good effect and low infection rate, which can avoid or delay the secondary repair of artificial materials. The risk factors of autogenous bone flap resorption were young children, large area of bone flap and large area of encephalomalacia.

Ependymoma (EPN) is a type of tumor that occurs in the central nervous system of children and adults. EPN produces resistance to chemotherapy, and there are no targeted drugs available as a proper cure. Therefore, the use of high-throughput sequencing technologies to elucidate pathogenic mechanisms is of prime importance to identify potential tumor target genes helpful for developing effective therapeutic approaches against EPN. With this objective, we used RNA-seq analysis to identify differentially expressed genes (DEGs) and pathways in 4 pairs of EPN tissues and adjacent tissues. In total, we found 5,445 differentially expressed genes. The synaptic vesicle cycle and extracellular matrix (ECM) receptor interaction pathways were highly enriched in the ependymoma group. Nine differentially expressed genes (SNAP25, GRM4, CELSR1, LAMA1, WNT5A, ROR2, CCND1, EPHB2, FOXJ1) were randomly verified by RT-qPCR, supporting the authenticity of our sequencing results. This study provides global gene information and some new potential biomarkers for the diagnosis and therapeutic targets of ependymoma.

目的 探讨侧脑室实性血管母细胞瘤(HBS)的临床特点与治疗方法 .方法 回顾分析1例目前国内外年龄最小的侧脑室实性血管母细胞瘤患者的临床资料;并复习相关文献.结果 患者为女性,15岁;表现间断性头痛3个月,头痛加重伴发热1周;查体无异常神经系统体征.头颅MRI检查示,右侧脑室体部不规则形实性混杂信号影,增强扫描病灶呈明显强化.行手术完整切除肿瘤;术后病理诊断为血管母细胞瘤.患儿及其父母基因检查无vonHippel-Lindau病基因突变.术后患者头痛、发热症状消失.结论 幕上侧脑室实性血管母细胞瘤系罕见病,首发症状为颅内压增高所致的头痛,伴或不伴恶心、呕吐等;治疗首选外科手术,因肿瘤血供丰富,可在术前行血管栓塞,以降低术中出血风险.

Modern network science has provided exciting new opportunities for understanding the human brain as a complex network of interacting regions. The improved knowledge of human brain network architecture has made it possible for clinicians to detect the network changes in neurological diseases. Generalized tonic–clonic seizure (GTCS) is a subtype of epilepsy characterized by generalized spike-wave discharge involving the bilateral hemispheres during seizure. Network researches in adults with GTCS exhibited that GTCS can be conceptualized as a network disorder. However, the overall organization of the brain structural covariance network in children with GTCS remains largely unclear. Here, we used a graph theory method to assess the gray matter structural covariance network organization of 14 pediatric patients diagnosed with GTCS and 29 healthy control children. The group differences in regional and global topological properties were investigated. Results revealed significant changes in nodal betweenness locating in brain regions known to be abnormal in GTCS (the right thalamus, bilateral temporal pole, and some regions of default mode network). The network hub analysis results were in accordance with the regional betweenness, which presented a disrupted regional topology of structural covariance network in children with GTCS. To our knowledge, the present study is the first work reporting the changes of structural topological properties in children with GTCS. The findings contribute new insights into the understanding of the neural mechanisms underlying GTCS and highlight critical regions for future neuroimaging research in children with GTCS.

Introduction: Stereoelectroencephalography (SEEG) refers to a commonly used diagnostic procedure to localise and define the epileptogenic zone of refractory focal epilepsies, by means of minimally invasive operation techniques without large craniotomies. Objective: This study aimed to investigate the influence of different registration methods on the accuracy of SEEG electrode implantation under neuronavigation for paediatric patients with refractory epilepsy. Methods: The clinical data of 18 paediatric patients with refractory epilepsy were retrospectively analysed. The SEEG electrodes were implanted under optical neuronavigation while the patients were in the prone position. Patients were divided into two groups on the basis of the surface-based registration of MR scan method and refined anatomy-based registration of CT scan. Registration time, accuracy, and the differences between electrode placement and preoperative planned position were analysed. Results: Thirty-six electrodes in 7 patients were placed under surface-based registration of MR scan, and 45 electrodes in 11 patients were placed under refined anatomy-based registration of CT scan. The registration time of surface-based registration of MR scan and refined anatomy-based registration of CT scan was 45 ± 12 min and 10 ± 4 min. In addition, the mean registration error, the error of insertion point, and target error were 3.6 ± 0.7 mm, 2.7 ± 0.7 mm, and 3.1 ± 0.5 mm in the surface-based registration of MR scan group, and 1.1 ± 0.3 mm, 1.5 ± 0.5 mm, and 2.2 ± 0.6 mm in the refined anatomy-based registration of CT scan group. The differences between the two registration methods were statistically significant. Conclusions: The refined anatomy-based registration of CT scan method can improve the registration efficiency and electrode placement accuracy, and thereby can be considered as the preferred registration method in the application of SEEG electrode implantation under neuronavigation for treatment of paediatric intractable epilepsy.

INTRODUCTION:Generalized tonic-clonic seizure (GTCS) is a condition that is characterized by generalized spike-wave discharge in bilateral cerebral hemispheres during the seizure. Although previous neuroimaging studies revealed functional abnormalities in the brain activities of children with GTCS, the topological alterations in whole-brain networks remain poorly understood. METHODS:The present study used graph theory to investigate the topological organization of functional networks in 13 GTCS children and 30 age-matched healthy controls. RESULTS:We found that both groups exhibited a small-world topology of the functional network. However, children with GTCS showed a significant decrease in nodal local efficiency and clustering coefficient in some key nodes compared with the controls. The connections within the default mode network (DMN) were decreased significantly, and the internetwork connections were increased significantly. The altered topological properties may be an effect of chronic epilepsy. As a result, the optimal topological organization of the functional network was disrupted in the patient group. Notably, clustering coefficient and nodal local efficiency in the bilateral temporal pole of the middle temporal gyrus negatively correlated with the epilepsy duration. CONCLUSION:These results suggest that the bilateral temporal pole plays an important role in reflecting the effect of chronic epilepsy on the topological properties in GTCS children. The present study demonstrated a disrupted topological organization in children with GTCS. These findings provide new insight into our understanding of this disorder.

Vagus nerve stimulation (VNS) is a neuromodulation therapy increasingly used for treating drug-resistant epilepsy. However, it remains to be determined which patients are best suited for the treatment, and it is difficult to predict the therapeutic effect before the implantation. Mutations in some genes could lead to epilepsy. Here we report two cases of pediatric patients with drug-resistant epilepsy treated by VNS therapy: Patient 1 with ARX mutation achieved good outcomes; Patient 2 with the CDKL5 mutation did not show improvement. Additionally, the therapeutic impact of VNS on brain networks was investigated, hoping to provide some empirical evidence for a better understanding of the mechanism of VNS treatment.

ABSTRACT Objective To analyze the risk factors and prognosis related to early post-traumatic epilepsy (EPTE). Methods One hundred and eighty-six patients with traumatic brain injury were enrolled. Their full clinical data were collected. Single factor analysis and logistic regression analysis of risk factors related to EPTE were performed. The prognosis of patients was determined. Results Single factor analysis showed that there were significant differences of age (p = 0.011), epilepsy history (p < 0.001), injury site (p = 0.004), injury type (p < 0.001) and injury degree (p < 0.001) between the EPTE group (40 patients) and non-EPTE group (146 patients). Logistic regression analysis showed that the injury site, injury type and injury degree were the main risk factors for EPTE. The odds ratio values of injury site, injury type and injury degree were 1.977 (1.473–2.679), 2.096 (1.543–2.842) and 2.376 (1.864–3.609), respectively. The logistic regression equation was P = Exp (-1.473 + 0.698 × injury site + 0.717 × injury type + 0.935 × injury degree). The sensitivity and specificity of injury site, injury type and injury degree for predicting EPTE were 79.2% and 80.5%, 78.9% and 85.7% and 84.2% and 81.0%, respectively. The analysis of prognosis showed that the Glasgow Outcome Scale/Activity of Daily Living Scale scores in the EPTE group were significantly lower than those in non-EPTE group (p < 0.05). Conclusions Injury site, injury type and injury degree are the main risk factors for EPTE. The prognosis of patients with traumatic brain injury can be affected by EPTE.

Currently, no neuroimaging study has reported the detection of specific imaging biomarkers that distinguish the progressive hydrocephalus (PH) and chronic compensated hydrocephalus (CH). Our main focus is to evaluate the different structural changes in classifying the two types of hydrocephalus children. Twenty-two children with hydrocephalus (12 PHs and 10 CHs) and 30 age-matched healthy controls were enrolled and the T1-weighted imaging was collected in the study. A customized voxel-based morphometry (VBM) approach and support vector machine (SVM) were combined to investigate the structural changes and group classification. Comparing with the controls and CH, PH groups invariably showed a significant decrease of GM volume in the bilateral hippocampus/parahippocampus, insula, and motor-related areas. SVM applied to the GM volumes of bilateral hippocampus/parahippocampus, insula, and motor-related areas correctly identified hydrocephalus children from normal controls with a statistically significant accuracy of 88.46% (p ≤ .001). In addition, SVM applied to GM volumes of the same regions correctly identified PH from CH with a statistically significant accuracy of 77.27% (p ≤ .009). Using VBM analysis, we characterized and visualized the GM changes in children with hydrocephalus. Machine learning results further confirmed that a significant decrease of the bilateral hippocampus/parahippocampus, insula, and motor-related GM volume can serve as a specific neuroimaging index to distinguish the children with PH from the children with CH and controls at individual. The findings could help to aid the identification of individuals with PH in clinical practice.

To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gene sequence and expression between patients and controls. We found that NF2 promoter gene mutations occurred in MB patients. The NF2 mRNA expression was higher in the controls than in patients (p = 0.03 < 0.05); however, the results of IHC and WB demonstrated that the NF2 protein expression was significantly higher in patients than in the controls (IHC: p = 0.0001; WB: p = 0.01). There was no significant difference in the CRL4 mRNA and protein levels. In addition, NF2 protein was mainly expressed in the nucleus in MB patients, while the NF2 protein was mainly expressed in the cytoplasm in the controls. NF2 promoter mutations exist in MB patients. NF2 mRNA expression was higher in controls than patients; whereas NF2 protein level was higher in patients than in controls.

Background: Since the external ventricular drainage (EVD) were introduced into clinical practice, it has been proven to be an efficacious treatment of cerebrospinal fluid (CSF) diversion, which results from intracranial hypertension, hydrocephalus, etc. But, this operation is prone to fail or lead to various complications, such as infection and intracerebral hemorrhage, especially for pediatric patients. Objective: This research aimed to retrospectively investigate the potential influence factors that affect the accuracy of lateral ventricle puncture in pediatric patients, as well as the efficacy of 3D-computed tomography (3D-CT) guidance during lateral ventricular puncture. That is, it is to determine how the success rate of lateral ventricle puncture could be improved for pediatric patients. Methods: 95 patients under the age of 18 years were identified into this retrospective analysis. All of them ever received lateral ventricle puncture, by the means of 3D-CT guidance or conventional CT. And then they also underwent conventional CT scanning after puncture in order to make sure the accuracy of catheterization. The distance between puncture point and interventricular foramen was measured in each case. The difference of 0.5 CM was adopted as a cut-off point, and the accuracy and depth of puncture were statistically analyzed. At last, logistic regression analysis was carried out to investigate the potential influence factors that affect the accuracy of lateral ventricle puncture. Results: On the basis of age and sex, these included pediatric patients were well matched between groups. And the primary disease covered hydrocephalus (46/95, 48.42%), spontaneous hemorrhage (19/95, 20%), head trauma (21/95, 22.11%), central nervous system malignancy (8/95, 8.42%), and postoperative observation (1/95, 1.05%). The success rate of catheterization was 81.2%, most catheter positions were good, and the CSF could be pumped out smoothly. The pivotal factors of lateral ventricle puncture included operator, age, sex, Glasgow coma scale score, disease categories. It can be included that pre-operative CT guidance contribute to promote the accuracy of lateral ventricle puncture significantly. Conclusions: These above results show that the success rate of lateral ventricle puncture can be affected by various factors, and CT guidance could significantly improve the success rate of catheterization, compared with freehand operation. Further studies evaluating external equipment guided ventricle puncture are still needed, especially for pediatric patients.