Objective To explore the effect and technical skills of neruoendoscope-assisted microneurosurgery via the supraorbital keyhole apporach for giant olfactory groove meningiomas.Methods A total of 12 patients with giant olfactory groove meningiomas(≥7 cm in diameter)received neruoendoscope-assisted microneurosurgery via the supraorbital keyhole approach.Data of the patients were analyzed retrospectively.Results Among the cases,9 achieved complete resection of the tumor,inlcuding 5 cases of SimpsonⅠ and 4 cases of Simpson Ⅱ.The other 3(Simpson Ⅲ)patients underwent subtotal resection.None of the patients died during the operation.Ten of the patients were follwed up for 3 months to 2 years(mean,14 months).During the follow-up,9 of the 10 resumed physical and sporting activities,and the other one retured to normal daily life.MRI examination was prefomred on 9 patients,none of them had recurrence.Conclusions Neruoendoscope-assisted microneurosurgery via the supraorbital keyhole approach is effective and safe for patient with giant olfactory groove meningioma.The tumor should be removed piece by piece during the operation.

Neuron-specific enolase characteristically resided in neurons and neuroendocrine cells.Nowadays neuron-specific enolase,as a tumor marker,plays an increasingly significant role in the prevention and treatment of tumors of the nervous system and neuroendocrine tumors.This review intends to give an overview about it.

Several of the genetic models and environmental risk factor models were used in the animal model study in autism.The BTBR T+ Itpr3tf(BTBR) mice are an inbred strain and have emerged as strong candidates to serve as models of a range of autism-relevant behaviors, showing deficiencies in social behaviors and reduced or unusual ultrasonic vocalizations as well as increased repetitive self-grooming.There are increasing investigations targeted to ameliorating the behavioral phenotypes of autism in BTBR mice.This review briefly summarizes the advance in the research on the BTBR mice model of autism.

Objective To study the surgical skills for parasagittal meningioma at the central cortex. Methods A total of 32 patients with parasagittal meningiomas at the central cortex were treated with microsurgery. Through the arachnoid interfaces between the tumor and the brain tissue, the tumor was removed piece by piece. The vein of central sulcus, other draining veins, and normal brain tissues were protected, and the involved sagittal sinus was appropriately treated. Results Simpson Ⅰ, Ⅱ, and Ⅲ grades resection was achieved in 17 (53.1%), 11(34.4%), and 4 (12.5%) of the 32 patients respectively. None of the patients died. Two patients developed cerebral edema and infarction and were cured by surgical decompression. Hemiparalysis was deteriorated in 10 patients, 8 of them recovered spontaneously in 1 to 6 weeks, and the other 2 developed hemiparesis. Among the patients, 21 patients were followed up for 3 months to 5 years. 4 patients had recurrent meningioma in 1 to 3 years after the operation (Ⅱ grade resection in 2 and Ⅲ grade resection in 2). Conclusions For parasagittal meningiomas at the central cortex, preoperation imaging evaluation and microsurgical techniques are key factors for complete resection and surgical outcomes. The vein of central sulcus, other draining veins, and normal brain tissues should be protected during the procedure.

BACKGROUND: More recently,repair of skull defect with computer-designed prosthesis contributes to the revolutionary development of skull reconstruction technique. OBJECTIVE: To individually molded titanium mesh by computer-aided design (CAD) technique,and to observe the clinical application value of the titanium mesh in the repair of large-area skull defects in the fronto- temporo-parietal lobes. DESIGN,TIME AND SETTING: A retrospective case analysis was performed at the Department of Neurosurgery,Liuzhou People's Hospital between January 2006 and August 2007.PARTICIPANTS: A total of 16 patients comprising 12 males and 4 females,aged 16-52 years,suffered from skull defects in the fronto-temporo-parietai lobes following standard large trauma craniotomy and were recruited into this stud Two of these patients were complicated by hydrocephalus and received ventriculoperitoneal shunt. Skull defect area ranged between 9. 2 cm ×11.2 cm and 12.2 cm×14.6 cm. Skull defect neoplasty was performed in all patients 3-8months following standard large trauma craniotomy. METHODS: Titanium mesh patches were individually modeled by CAD,computer-aided manufacturing (CAM) and rapid shaping techniques and implanted into skull defect region. In addition,defect edge was fastened with titanium nails. MAIN OUTCOME MEASURES: Moulding effects and complications following skull defect neoplasty. RESULTS: A small amount of subcutaneous effusion was found in one patient and disappeared after liquid extraction and pressure dressing. Titanium mesh was firmly fixed with no loosening. Patients exhibited left-right symmetry,appropriate lateral curvature,no irregular umbilication or chewing dysfunction. All patients were followed for 3-18 months postoperatively and were satisfied with good resuRs,Le.,no complications,infection,material exposure,loosening,or collapse. CONCLUSION: CAD technique used for repair of skull defects is convenient,effective,and safe. This method can. reduce postoperative complications and improve repair effects.

Objective To analysis and compare the proteomic differences between neural stem cells and motor neurons in embryonic spinal cord in rat and discover the key different proteins. Methods Separating the protein of cells by the 2-D fluorescence difference gel electrophoresis, and to analyse the differences of protein expression with DeCyder software, and to identify with high performance liquid chromatography-electrospray tandem mass spectrometry. Results About 1 300 protein spots from the cells were gained after gel analysis. Eighty-seven protein spots were selected for mass spectrometry analysis. Fourty-four differently expressed proteins (24 in neural stem cells and 20 in motor neurons) were identified by mass spectrometry analysis.Conclusion Differently expressed proteins between neural stem cells and motor neurons were identified and it is helpful to find the new targets in neural stem cells differentiation into motor neurons.

OBJECTIVE: To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS). METHODS: Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. CONCLUSION By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.
Female ; Humans ; Male ; Deafness ; East Asian People ; Hearing Loss, Sensorineural/genetics* ; Mutation ; Pedigree ; Phenotype ; Waardenburg Syndrome/diagnosis*

Objective:To observe the clinical and imaging characteristics of radiation optic neuropathy (RION).Methods:A retrospective clinical study. A total of 43 patients (69 eyes) who were diagnosed with RION at the Chinese PLA General Hospital from 2010 to 2021 were included in this study. There were 23 males (36 eyes) and 20 females (33 eyes). The age of patients at the time of radiation therapy was 49.54±13.14 years. The main dose of radiotherapy for lesions was 59.83±14.12 Gy. Sixteen patients were treated with combined chemotherapeutic agents. The clinical details of best corrected visual acuity (BCVA) and color photography of the fundus were collected. Forty-six eyes underwent optical coherence tomography (OCT), visual field were examined in 30 eyes, magnetic resonance imaging (MRI) were performed in 40 eyes. The BCVA examination was performed using Snellen visual acuity chart, which was converted to minimum resolution angle logarithm (logMAR) visual acuity during recording. Hyperbaric oxygen therapy (HBOT) was performed in 10 patients (13 eyes), 9 patients (12 eyes) were treated with intravenous methylprednisolone (IVMP), 12 patients (23 eyes) were treated with HBOT combined with IVMP and control group of 12 patients (21 eyes) were only treated with basal treatment. And grouped accordingly. To observe the changes in onset, recovery, and final BCVA of the affected eye as well as thickness changes of the retinal nerve fiber layer (RNFL) of the optic disc and inner limiting membrane-retinal pigment epithelium (ILM-RPE) layer of the macular area, and final outcome of BCVA with different treatment modalities in affected eyes. The RNFL and ILM-RPE layer thicknesses were compared between patients with different disease duration as well as between treatment regimens using independent samples t-test. Results:Of the 43 cases, vision loss was monocular in 17 patients (39.53%, 17/43) and binocular in 26 patients (60.47%, 26/43). The latency from radiotherapy to onset of visual loss was 36.33±30.48 months. The duration of RION ranged from 1 week to 10 years, in which the disease duration of 37 eyes ≤2 months. Subacute visual acuity loss was present in 41 eyes. logMAR BCVA<1.0, 1.0-0.3, >0.3 were 45, 15, and 9 eyes, respectively. Optic disc pallor and optic disc edema were found in 10 (27.03%, 10/37), 3 (8.11%, 3/37) eyes, respectively, within 2 months. The superior RNFL [95% confidence interval ( CI) 2.08-66.56, P=0.038] and the outer circle of the inner limiting membrane to retinal pigment epithelium (ILM-RPE) (95% CI 4.37-45.39, P=0.021) layer thinned significantly during the first month. The center of the ILM-RPE layer thickened (95% CI-32.95--4.20, P=0.015) significantly during the first two months. The inner circle temporal quadrant of the ILM-RPE layer thickened (95% CI -42.22--3.83, P=0.022) significantly from the third to sixth month, and the RNFL except for the temporal quadrants and the average RNFL, inner circle superior quadrant and outer circle of the ILM-RPE layer thinned significantly after 6 months ( P<0.05). Among the 40 eyes that underwent MRI examination, 33 eyes (82.50%, 33/40) were affected by T1 enhancement of optic nerve, including 23 eyes (69.70%, 23/33) in intracranial segment; 12 eyes with thickening and long T2 signal (36.36%, 12/33). After treatment, BCVA was restored in 17 eyes (24.6%, 17/69) and final BCVA improved in 9 eyes (13.0%, 9/69). There was no significant difference between HBOT, IVMP and HBOT combined with IVMP therapy in improving BCVA recovery or final BCVA compared with the control group, respectively ( t=-1.04, 0.61, 1.31,-1.47, -0.42, 0.46; P>0.05). Conclusions:The structural damage of the RNFL and ILM-RPE layer occurred during the first month, the RNFL showed progressive thinning during the follow-up period, while the ILM-RPE layer showed thinning-thickening-thinning. MRI shows T1 enhancement of the optic chiasma and segments of the optic nerve, and the enhanced segments are usually accompanied by thickening and long T2. HBOT and IVMP have no obvious effect on RION.

Objective To investigate the epidemiology of viral encephalitis&meningoencephalitis and its clinical characteristics during influenza epidemics in Taiyuan city (between November 2017 and February 2018). Methods A total of 112 patients of viral encephalitis & meningoencephalitis from Shanxi Provincial People's Hospital between October 2016 to March 2018 were recruited. Patients were divided into influenza season (n=46)and non－influenza season (n=66). The clinical characteristics of 46 patients with viral meningititis in the influenza season (IS group) were compared with those in the control group of 66 cases in the non－influenza season (NI group). The Logistic regression analysis was used to study the difference between the clinical features of the IS group and the NI group. Results The incidence of hospitalized patients with viral meningititis was significantly higher in epidemic season than in the non－epidemic season. The regression analysis demonstrated that in the IS group the adolescents were 3.879 times older than other age groups, and the symptoms of mental disorder were 2.843 times that of the symptoms without mental disorder, and the duration less than 2 weeks was 3.001 times the duration greater than 2 weeks. Conclusion Although the incidence of hospitalization in patients with viral encephalitis&meningoencephalitis is increased during the influenza season, there is no outbreak of viral meningititis. In this influenza season, adolescents are susceptible to the viral encephalitis &meningoencephalitis and more prone to mental disorder. However, the prognosis of the disease is relatively good.

OBJECTIVE: To study mutations in the GJB2 gene in Uyghur patients with nonsyndromic hearing impairment from Xinjiang. METHOD: Forty-three cases with nonsyndromic hearing impairment and 46 adults with normal hearing were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. RESULT: Six kinds of mutation have been found in the encoding region of hearing impairment group: 380G>A, 109G>A, 235 delC, 233 delC, 7G0>A, 35 delG, of which one 235 delC case is heterozygotes mutation, two 233 delC are homozygotes mutation and two 35 delG are heterozygotes mutation. Six kinds of mutations have been found in the normal hearing group, of which 5 kinds are confirmed common polymorphic mutation. CONCLUSION The GJB2 gene mutation detection rate in the Uyghur deaf population of Xinjiang Province is lower than other province, which has ethnic and regional characteristics.
Adult ; Asian Continental Ancestry Group ; genetics ; China ; epidemiology ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Gene Frequency ; Hearing Loss ; epidemiology ; genetics ; Hearing Loss, Sensorineural ; epidemiology ; genetics ; Homozygote ; Humans ; Mutation