Objective:To investigate the expression and clinical significance of 12-lipoxygenase (12-LOX) in glioma. Methods:12-LOX expression in 40 glioma cases and 10 normal human-brain tissues was assayed by immunohistochemistry. Clinicopathological data were analyzed to reveal the association between 12-LOX expression and prognosis of glioma patients. Results:12-LOX was weak-ly expressed in the normal human brain tissues, whereas 12-LOX was strongly expressed (72.5%) in glioma tissues (P<0.05). The strong 12-LOX expression was correlated with the histopathological grading of glioma (P=0.012), whereas 12-LOX expression was not correlated with factors such as patient gender and age, tumor size, and Karnofsky Performance Score. Median survival time was longer in the group with low 12-LOX expression (25.6 months) than in the group with high 12-LOX expression (13.2 months) (P<0.05). Con-clusion:Abnormal 12-LOX expression is implicated in glioma. 12-LOX expression was correlated with the histopathological grading of glioma and was closely associated with patient prognosis.

Objective To investigate the imaging features of the calvarial cavernous hemangioma and the surgical efficacy to improve diagnosis and treatment of the calvarial cavernous hemangioma.Methods The clinical information,imaging materials and surgical efficacy from ten cases of calvarial cavernous hemangioma confirmed by pathology and the related literature was reviewed.Results The lesion was located in frontal bone in eight cases,in parietal bone in one case and in occipital bone in one case.The lesions were round-shape hypodensity with clear margin in X-ray.The lesions were hyperdensity or slightly hyperdensity on CT scan,and were osteolytic lesions with a characteristic honeycomb or starburst pattern on bone window.The MRI features were complicated and variable.The lesions were heterogenous and unevenly enhanced signal intensity.Nine patients underwent radical resections and reconstructed immediately by titanium mesh.The patient with tumor in occipital bone underwent radical resection only.Macroscopically,the pathologic bone was a huge purple-red blush mass protruding from the skull surface.Histological examination revealed the diploe with large,thin-walled,dilated blood-filled spaces lined by flattened endothelial cells without evidence of malignancy.No recurrence was noted in any case during a follow-up period from 3 to 24 months.All the patients survived well without recurrence.Conclusions The imaging features of calvarial cavernous hemangioma have a high value in the diagnosis and may provide guidance for the treatment.The radical resection and immediate reconstruction treatment for calvarial cavernous hemangioma is satisfied.

Objective To analyze the intraoperative and postoperative common complications of Enterprise stent-assisted embolization of intracranial aneurysms and the causes and preventive measures. Methods One hundred forty-three patients with intracranial aneurysm treated with Enterprise stent-assisted embolization at the Department of Neurosurgery,Yijishan Hospital,the First Hospital Affiliated to Wannan Medical College from January 2012 to March 2014 were analyzed retrospectively. The common intraoperative and postoperative complications and its possible causes,as well as the appropriate management were analyzed,and the prognoses were observed. Results A total 143 patients(205 aneurysms)with intracranial aneurysm were enrolled,included 43 with unruptured aneurysm,12 with recurrent aneurysm,and 88 with ruptured aneurysm. A total of 170 Enterprise stents were used. Twenty-two patients (15. 4%)had complications. Among them,2 had intraoperative aneurysm rupture,and they recovered well and discharged after active treatment. Thirteen patients had acute thrombosis,11 of the patients completely restored blood flow immediately after tirofiban and/or urokinase,microcatheter and guidewire-contact thrombolysis. The thrombolysis failed in 1 patient,and the blood flow was slow in 1 patient. Six patients had different degrees of cerebral infarction after procedure,and 1 died (peroperative Hunt-Hess grade Ⅳ). Three patients had vasospasm and they were improved after reducing blood vessel wall irritation and papaverine infusion. The introperative stent guidewire was broken and the stent in place was difficult in 1 case. The last coil packed difficultly during the procedure,and it protruded into the parent artery in 1 case. Two patients had non-aneurysmal hemorrhage after procedure. After conservative treatment,one left unilateral limb muscle strength decline and the other was stable after craniotomy,but leaving aphasia and hemiplegia. Conclusion When using the Enterprise stent-assisted embolization for complex aneurysms,grasping the indications strictly,strengthening the perioperative management and improving the operative skills may reduce or avoid the occurrence of complications.

Objective To evaluate the clinical application of SWI and DTI of MRI in the diagnosis and prognosis of diffuse axonal injury (DAI).Methods A retrospective case series study was conducted on the clinical data of 16 patients with DAI admitted from January 2015 to December 2017.There were nine males and seven females,aged (56.3 ± 4.1) years.According to Glasgow Coma Scale (GCS),there were seven patients with 3-8 points,eight with 9-12 points,and one with 13 points.All patients received head CT examination on admission and then received head MRI examination within one week to record the number of lesions on T1WI,T2WI,DWI,and SWI in CT and MRI examination.On the DTI sequence,five regions including the subcortical white matter,the corpus callosum,the thalamus,the cerebellum,and the brain stem were selected for measurement of the apparent diffusion coefficient (ADC) and partial fraction of anisotropy (FA) values.The Glasgow outcome scale (GOS) was evaluated 6 months after injury.The linear correlation between ADC,FA values,GCS,and GOS on admission and after 6 months were analyzed.Results The statistical analysis of CT,T1WI,T2WI,DWI and SWI in 16 patients showed that the detection rates of DAI lesions were 25.6％ (43/168),30.4％ (51/168),44.0％ (74/168),51.8％ (87/168),and 100％,respectively (P ＜0.01).The ADC values of the subcortical white matter,the corpus callosum,the thalamus,the cerebellum,and the brain stem were 0.830 ± 0.148,0.536 ± 0.169,0.838 ± 0.596,0.708 ± 0.157,and 0.713 ± 0.135,respectively,and FA values were 0.487 ± 0.103,0.142 ± 0.040,0.293 ± 0.089,0.212 ± 0.045,and 0.366 ± 0.797,respectively.The GCS on admission was (8.9 ± 3.3)points,and GOS was (4.2 ± 1.0)points six months after injury.The correlation analysis showed that the ADC value and FA value of subcortical white matter and cerebellum were not related to GCS and GOS (P ＞ 0.05).The correlation strength of ADC values in each region with the GCS score in descending order was the thalamus,the corpus callosum,and the brain stem (P ＜ 0.05 or 0.01);for ADC with the GOS score,it was the corpus callosum,the thalamus and the brain stem (P ＜0.05 or 0.01);for FA with GCS and GOS scores,it was thalamus,corpus callosum,and brainstem (P ＜ 0.05 or 0.01).Conclusion The SWI has better sensitivity to detect DAI lesions than CT and conventional MRI sequences.DTI can accurately,objectively and visually detect the integrity of cerebral white matter fibers.Both SWI and DTI can help make early diagnosis and evaluate the prognosis of DAI patients accurately.

OBJECTIVE: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). METHODS: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child ; Female ; Humans ; Pregnancy ; Autistic Disorder/genetics* ; Brain ; Computational Biology ; Genetic Counseling ; Mutation ; Nerve Tissue Proteins/genetics* ; Neuro-Oncological Ventral Antigen ; Neurodevelopmental Disorders ; RNA-Binding Proteins

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP). METHODS: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites. RESULTS: The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3). CONCLUSION The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.
Female ; Humans ; Cytochrome P450 Family 2/genetics* ; Mutation ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/genetics* ; Infant

OBJECTIVE: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability. METHODS: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4). CONCLUSION The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Humans ; Child ; Female ; Intellectual Disability/genetics* ; Hearing Loss, Sensorineural/genetics* ; Ataxia ; Genetic Diseases, X-Linked ; Mutation