Objective:To explore the diagnosis, treatment and prognostic of pediatric intracranial atypical teratoid/rhabdoid tumor(AT/RT).Methods:A total of 15 pediatric patients with intracranial AT/RT were treated between January 2012 and June 2019 at the First Affiliated Hospital of Zhengzhou University.The clinical data were retrospectively analyzed.Overall survival (OS) rate and progression free survival (PFS) rate were calculated by adopting Kaplan- Meier method.The differences between the 2 groups were tested by performing Log- rank method, and the prognostic factors were analyzed by COX regression. Results:There were 12 males and 3 females, with the median age of 5.5 years (ranging from 8 months to 17.1 years). All patients underwent surgical resection.Gross-total resection (GTR) was achieved in 10 cases and subtotal resection (STR) was carried out in 5 patients.The conducted treatments were as follows: surgery+ radiotherapy+ chemotherapy+ intrathecal injection in 6 cases, surgery+ chemotherapy+ intrathecal injection in 4 cases, surgery+ radiotherapy in 2 cases, and surgery alone in 3 cases.Until January 2020, the median survival time of all the 15 patients was 18 months (ranged 1-27 months), and the survival rate was 33.3%.The 1-year OS rate and PFS rate for all 15 cases were 71.5% and 49.7%, respectively.The 2-year OS rate and PFS rate were 17.9% and 0, respectively. Log- rank analyses revealed that the 1-year OS rates of children less than 3 years old and those older than 3 years were 87.5% and 57.1%, respectively ( χ2=6.057, P=0.014). The 1-year OS rates of children with GTR and those with STR were 90.0% and 40.0%, respectively ( χ2=6.057, P=0.014). The 1-year OS rates of children with tumor dissemination and those without tumor dissemination were 100.0% and 33.3%, respectively( χ2=9.865, P=0.002). The 1-year OS rates of children in the standard-risk group and those in the high-risk group were 88.9% and 41.7%, respectively ( χ2=5.111, P=0.024). COX regression analyses proved that age, the extent of tumor resection, tumor dissemination and risk stratification are independent risk factors for prognosis [hazard radio( HR)=3.411, 3.795, 5.245, 3.397; P=0.025, 0.011, 0.001, 0.017]. Conclusions:Pediatric intracranial AT/RT is rare.The preliminary diagnosis and prognosis are difficult and poor, respectively.The complete resection of tumors with maximal safety remains the primary treatment.Age, the extent of tumor resection, tumor dissemination and risk stratification are independent prognostic factors for AT/RT children.

Clinical data of a child with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) diagnosed in the First Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.A female patient with 1 year and 2 months old presented with 10 months of developmental delay and 1 month of recurrent seizures.Physical examinations showed grade Ⅲ muscle strength of limbs, slightly higher muscle tone, active reflex of bilateral knee tendons, normal reflex of bilateral achilles tendons, and positive Babinski sign.Brain magnetic resonance imaging (MRI) showed bilateral cerebral hemisphere atrophy and diffuse abnormal signals.The whole exome sequencing test showed two heterozygous mutations of the DARS2 gene in the present case.There are no reports of early-onset LBSL gene mutation in Chinese population.A total of 6 related foreign literatures have been reported.All affected cases present psychomotor development disorders and other encephalopathy manifestations.Brain MRI involvement and DARS2 gene mutations are found in previous reports.Therefore, for children with developmental retardation, epilepsy, and diffuse abnormal signals in both cerebral hemispheres examined by brain MRI, genetic testing is recommended to confirm the diagnosis, guide prenatal diagnosis and genetic counseling.

Objective:To investigate the molecular mechanism of PIEZO1 in promoting the invasion and aggression of glioma via Yes-associated protein (YAP) delivering mechanical signals.Methods:(1) Specimen detection: specimens from 94 patients accepted glioma resection in our hospital from February 2015 to March 2017 were chosen; immunohistochemical staining was used to detect the PIEZO1 expression in these glioma tissues of different grades. (2) Cell experiment: human glioma cell lines U87 and U251 were cultured under different matrix; the expressions of PIEZO1 and YAP were detected by immunofluorescent staining, and the PIEZO1 protein expression was detected by Western blotting. (3) Cell experiment after lentivirus transfection: the U87 and U251 cells were divided into negative control group and sh-PIEZO1 group according to the presence or lack of shRNA lentivirus vector; the role of PIEZO1 in glioma proliferation and invasion was detected by clone formation assay, proliferation and invasion assay, and Western blotting; after PIEZO1 silencing, Western blotting was used to detect the expressions of mechanical signal pathway proteins, YAP, FAK, and β1-integrin; real time-PCR was used to detect the mRNA expressions of CTGF and CYR61, which were downstream target genes of YAP; immunofluorescent staining was used to detect the YAP expression after PIEZO1 silencing. Results:(1) The PIEZO1 expression in glioma specimens increased with glioma grading, and the PIEZO1 expression in IDH wild-type patients was higher than that in IDH mutant patients. (2) The PIEZO1 and YAP expressions increased with the increase of matrix stiffness; as compared with that in the 0.2 kPa group, the PIEZO1 protein expression in stromal cultured cells of 16 and 64 kPa groups was significantly increased ( P<0.05). (3) After PIEZO1 silencing, U87 cells became large and tentacles increased, while U251 cells were mostly with long fusiform; as compared with those in the negative control group, the number of cell clones, and the proliferation rate and invasive cell count at each time point in the sh-PIEZO1 group were significantly smaller/decreased ( P<0.05); as compared with those in the negative control group, the epithelial marker E-cadherin expression was significantly increased, while the expressions of stromal markers Vimentin, Snailin and Slug were significantly decreased in the sh-PIEZO1 group ( P<0.05). Finally, Western blotting and immunofluorescent staining showed that PIEZO1 silence significantly increased the phosphorylated-YAP expression, significantly decreased the YAP nuclear expression, significantly down-regulated the CYR61 and CTGF expressions, and significantly reduced the levels of integrin β1 and phosphorylated-FAK; there were significant differences on these indexes between the negative control group and sh-PIEZO1 group ( P<0.05). Conclusion:PIEZO1 regulates the response of glioma cells to mechanical signal and promotes proliferation and invasion of glioma cells through YAP, which is an attractive therapeutic target for glioma treatment.

Objective To explore the preliminary experience of a one-stage hybrid operating room (OR) in cerebrovascular surgery.Methods A total of 23 patients [9 male,mean age:(40.0±11.2) years] underwent one-stage hybrid approach in a hybrid OR from September 2012 to December 2013,were chosen in our study.Craniotomy and percutaneous intervention of these patients were performed in a single session.Their clinical data were retrospectively analyzed.Results Thirty-one times of digital subtraction angiography (DSA) was performed in all patients,and 15 patients were diagnosed as having intracranial aneurysms and 8 arteriovenous malformations (AVMs).In one patient,a reposition of the clip was needed due to neck remnant after clipping.Residual nidus resection was done in 2 patients with AVMs.Temporary balloon occlusion happened in 5 patients,parent artery occlusion in 3,and 8 accepted emergency surgery under DSA confirming cerebrovascular diseases and removing hematoma.No procedural complications was observed.Conclusion A combined endovascular and surgical approach conducted in a one-stage hybrid OR provides a new strategy for the treatment of complex and emergency cerebrovascular diseases.

Objective:To explore the clinical efficiency evaluation and prognostic factors of aspiration guided by neuronavigation in the treatment of pediatric brain abscess (PBA).Methods:A total of 47 patients with PBA were treated with aspiration guided by neuronavigation between January 2013 and January 2019 at the First Affiliated Hospital of Zhengzhou University.All clinical data were retrospectively analyzed.According to Glasgow Outcome Scale on discharge, all children were divided into 2 groups, namely good prognosis group and poor prognosis group.Prognostic factors were analyzed by using univariate analysis and binary Logistic regression multivariate analysis. Results:Among the 47 children, 38 children (80.9%) were assigned to the good prognosis group, and 9 children (19.1%) were assigned to the poor prognosis group.Univariate analysis proved that abscess volume>4 cm( χ2=5.650, P=0.017), multiple or multilocular abscess ( χ2=3.258, P=0.027), and abscess located in functional areas ( χ2=6.187, P=0.013) were correlated with poor prognosis.Multivariate analysis revealed that abscess volume>4 cm( OR=5.913, 95% CI: 2.241-25.917, P=0.023) and abscess located in functional areas ( OR=10.519, 95% CI: 3.918-62.513, P<0.001) were independent risk factors for poor prognosis. Conclusion:The treatment of PBA with aspiration guided by neuronavigation is safe, effective and minimal invasive, and the clinical efficiency is satisfactory.Abscess volume>4 cm and abscess located in deepbrain/functional areas are independent risk factors for poor prognosis.

Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with " delay for more than 1 year" , using second-generation sequencing technology for full exon detection, and the result is DDX3X gene 13 th exon c. 1463G>A hybridization mutation, this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations, and there are 8 related cases were reported in foreign literature, all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients) need to be wary of the possibility of DDX3X gene mutation.

Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.

Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. In 2019, 34 international experts from Europe achieved a consensus on the definition, diagnosis, and treatment of CM1 in children, aiming to guide the clinical diagnosis and treatment of CM1 in children. Now the consensus is interpreted based on recent international research achievements, aiming to provide references for accurate clinical assessment and individualized treatment of CM1 in children.

Chiari malformation (CM) is the most common cause of syringomyelia, where agreed criterions on classification and treatment are still missing. In 2019, 29 international experts from Europe achieved a consensus on the definition, classification, diagnosis and treatment of CM and syringomyelia in adults, aiming to guide the clinical diagnosis and treatment of these diseases. Now the consensus is interpreted based on recently published literature at home and abroad, aiming to provide references for standardized diagnosis and treatment of CM and syringomyelia in adults.

Chiari malformation (CM) is the most common cause of syringomyelia, where agreed criterions on classification and treatment are still missing. In 2019, 29 international experts from Europe achieved a consensus on the definition, classification, diagnosis and treatment of CM and syringomyelia in adults, aiming to guide the clinical diagnosis and treatment of these diseases. Now the consensus is interpreted based on recently published literature at home and abroad, aiming to provide references for standardized diagnosis and treatment of CM and syringomyelia in adults.