Objective To summarize and analyze the clinical phenotype and genetic characteristics of a family with TSC1 gene mutation in tuberous sclerosis,so as to provide evidence for genetic counseling. Methods The clinical phenotypes of 6 probands and their grandmothers,aunts,aunts,mothers and sisters in the three generations of close relatives of the family were consistent with tuberous sclerosis.The probands and their parents and sisters were amplified by PCR for all coding regions and flanking shear sites of TSC1 and TSC2 genes,and the products were sequenced for mutation analysis.At the same time,35 unrelated normal controls were detected,The correlation between the gene variation and clinical phenotype was further analyzed. Results NM was found in exon 10 of TSC1 gene in proband,mother and sister_ 000368.5:c.917_ The 923upGTGCTAC mutation resulted in abnormal protein level(the amino acid at the position of p.Ser309Cysfs * 34309 changed from serine to cysteine,and from the position of 309,continued translation 34 met the termination codon,resulting in early termination of protein translation).The father did not find the mutation,and the father's clinical phenotype was normal,and the mutation was not detected in 35 normal controls.After searching HGMD database,this mutation is a new mutation,and there has been no report of this mutation in the past,which is consistent with the genetic co-segregation of disease phenotypes in the family. Conclusion TSC1 gene c.917_ The 923 base repeat frameshift mutation may be the cause of tuberous sclerosis in this family.The clinical phenotype of TSC1 gene mutation at the same site in the same family has strong heterogeneity.

Objective To investigate the relationship between serum Vitamin D(VitD) levels and Sympathetic Skin Response(SSR) in patients with Parkinson's disease(PD).To explore whether serum VitD level is involved in the occurrence and development of autonomic nervous dysfunction in PD. Methods 44 patients with PD and 51 healthy subjects matched by age and sex were selected for SSR examination,VitD test and The Scales for Outcomes in Parkinson's Disease for Autonomic function Symptoms,SCOPA-AUT) score.A case-control study was used to compare the differences among the groups. Results Compared with the control group,the SSR amplitude of limbs in PD group was decreased,the latency of left upper limb and right lower limb was prolonged,and the levels of serum 25(OH)D ₂,25(OH)D ₃ and total 25(OH)D were decreased( P＜0.05).2.The serum total 25(OH)D level in 86.7% of PD patients with SSR abnormality was in the deficient group,which was significantly higher than that in the deficient and normal groups( P＜0.01).3.The SCOPA-AUT score of PD patients was positively correlated with the limb latency of SSR( r=0.245, P＜0.01; r=0.398, P＜0.01; r=0.353, P＜0.01; r=0.168, P＜0.01);It was negatively correlated with limb amplitude( r=-0.434, P＜0.01; r=-0.341, P＜0.01; r=-0.367, P＜0.01;-0.289, P＜0.01).4.H&Y grading,UPDRS-Ⅲ and SCOPA-AUT scores of PD patients increased with the decrease of total 25(OH)D levels.Except for the right upper limb amplitude,there were no significant differences in the amplitude of the other limbs of SSR and the latency of the limbs among the three groups( P>0.05).5.Serum total 25(OH)D was significantly negatively correlated with the H&Y grade,UPDRS-Ⅲ and SCOPA-AUT scores of PD patients( r=-0.754, P＜0.01; r=-0.730, P＜0.01; r=-0.726, P＜0.01);There was no significant correlation with latency of left lower limb and amplitude of both lower limbs(P > 0.05),but negative correlation with latency of both upper limb and right lower limb( r=-0.319, P=0.035; r=-0.363, P=0.015; r=-0.355, P=0.018),was positively correlated with the amplitude of the double upper limbs( r=0.381, P=0.011; r=0.342, P=0.023). Conclusion The serum vitamin D level of Parkinson's disease patients decreased significantly,and the incidence of Sympathetic Skin Response abnormalities increased.Serum 25(OH)D deficiency may be involved in the development of autonomic symptoms in Parkinson's disease.

Objective To investigate the significance of home-based rehabilitation by telecommuting for spastic cerebral palsy(SCP) children after selective dorsal rhizotomy(SDR). Methods The data of 90 SCP cases undergone home-based rehabilitation after SDR,were analyzed retrospectively.The Gross Motor Function Measure Scale(GMFM) and the Functional Independence Measure for Children(WeeFIM) were used to quantify the efficacy before SDR,half year and 1 year after SDR.The related cost and the loss rate of home-based rehabilitation in 1 year after SDR were aggregated.Among all cases,43 cases chose home-based rehabilitation by outpatient assistance(HR-OA); 47 cases chose home-based rehabilitation by telecommuting assistance(HR-TA). Results The statistical results of HR-OA group were,GMFM-66 35.2±8.5 before SDR,48.2±9.4 half year after SDR,64.6±13.5 one year after SDR; WeeFIM 43.9±10.8 before SDR,50.3±14.1 half year after SDR,62.7±11.0 one year after SDR.The statistical results of HR-TA group were,GMFM-66 34.8±7.7 before SDR,58.5±8.6 half year after SDR,66.1±17.3 one year after SDR; WeeFIM 42.6±11.3 before SDR,57.6±12.3 half year after SDR,65.0±12.5 one year after SDR.The GMFM-66 or WeeFIM data within each group were compared of in preoperative and in half year after SDR,in half year after SDR and in 1 year after SDR,and P＜0.05 for all.The GMFM-66 and WeeFIM data between the two groups were compared of in preoperative and resulted P＞0.05,in half year after SDR and resulted P＜0.05,in 1 year after SDR and resulted P＞0.05.The related rehabilitation cost(unit:10,000 yuan) in 1 year after SDR was 4.2±2.7 for HR-OA group and 1.6±0.4 for HR-TA group,and resulted P＜0.05.The loss rate of rehabilitation in 1 year after SDR was 44.2%(19 cases) for HR-OA group and 12.8%(6 cases) for HR-TA group,and resulted P＜0.05.The prognosis was all good in both groups. Conclusion In home-based rehabilitation,Telecommuting mode is more advantageous than Outpatient mode.The efficacy of SDR combined with home-based rehabilitation is positive.

Objective To compare the effects of microballoon compression and microvascular decompression guided by digital subtraction angiography(digitalsubtractionangiography,DSA) in the treatment of trigeminal neuralgia. Methods One hundred patients with trigeminal neuralgia treated in our hospital from January 2019 to January 2022 were randomly divided into study group( n=50) and control group( n=50).The former was treated with DSA-guided microballoon compression and the latter was treated with microvascular decompression.The pain relief rates,serum levels of interleukin-6(IL-6),tumor necrosis factor-α(TNF-α),C-reactive protein(CRP),serum prostaglandin E2(PGE2),plasma substance P(SP) and serum calcitonin gene-related peptide(calcitoningenerelatedpeptide,CGRP) were compared between the two groups before and after operation.The concentration of peroxisome proliferator-activated receptor gamma coactivator 1-α(PGC-1 α) and serum 5-hydroxytryptamine(5-hydroxytryptamine),the incidence of complications and the recurrence rate after 6 months follow-up. Results The pain relief rate at 24 hours after operation in the study group was higher than that in the reference group( P＜0.05).24h after operation,the serum IL-6,TNF-α,CRP concentrations,serum PGE2,plasma SP concentrations,and serum CGRP concentrations in the study group were lower than those in the reference group( P＜0.05).24h after operation,the PGC-1α concentration and serum 5-HT concentration in the study group were higher than those in the reference group( P＜0.05).The complication rate and recurrence rate of the study group were similar to those of the reference group( P>0.05). Conclusion The DSA-guided microballoon compression in the treatment of trigeminal neuralgia can effectively reduce pain and is relatively less invasive.

Objective Exploring the clinical efficacy and safety analysis of stent assisted coil embolization in the treatment of intracranial aneurysms,aiming to provide reference for related clinical research. Methods Seventy-two patients with intracranial aneurysms admitted to our hospital from December 2020 to October 2022 were selected as the study subjects.They were divided into two groups according to the condition and surgical treatment plan.The control group was treated with simple spring embolism; The study group used stent-assisted coil embolization.The clinical efficacy and safety of the two groups were observed. Results ①In the control group,11 cases were completely cured and 8 cases were basically cured,with a total effective rate of 63.33%; In the observation group,22 cases were completely cured and 18 cases were basically cured.The total effective rate was 95.24%.The therapeutic effect of the observation group was significantly higher than that of the control group,and there was a significant difference in the total effective rate between the two groups( P<0.05).②In the control group,8 cases of adverse events occurred during the treatment,with a total incidence of 26.67%; There were 2 cases of adverse events during the treatment in the observation group,with a total incidence of 4.76%.The number of adverse events in the observation group was significantly lower than that in the control group,and there was a statistically significant difference in the total incidence of adverse events between the two groups( P<0.05). Conclusion Stent-assisted coil embolization is effective and safe for patients with intracranial aneurysms,which is worthy of further clinical promotion and application.

Objective To investigate the efficacy and complications of superficial temporal artery(STA)- middle cerebral artery bypass combined with pedicled temporal parietal fascia flap (TPFF)in the treatment of Moyamoya disease(MMD). Methods A retrospective analysis was performed on 18 patients with moyamoya disease bypass in the second section of neurosurgery Department of Jiaozuo People's Hospital from January 2021 to June 2023.Preoperative PWI,DWI and DSA examinations were performed on the head,preoperative quality of life was assessed by mRS,postoperative complications were counted,and mRS Scores were performed at discharge.PWI and DSA examinations were performed six months after the operation,and the recovery was evaluated by mRS Score and Matsushima grading. Results All the 18 cases successfully completed the operation,anastomotic vascular patency rate was 100%,postoperative hemorrhage in 1 case,infarction in 3 cases,epilepsy in 1 case,hyperperfusion syndrome in 2 cases,death in 0 cases,poor incision healing in 2 cases,symptoms improved in 12 cases,cerebral perfusion improved in 14 cases,mRS Score was significantly improved than before surgery,therewere significant differences. Conclusion STA-MCA bypass combined with pedicled temporoparietal fascia flap is a safe and effective treatment for moyamoya disease with lowcomplications.

Objective To analyze the diagnostic value of carotid integrative ultrasound and high-resolution magnetic resonance imaging(MRI) 3D blackblood in cerebral infarction. Methods From April 2022 to January 2024,112 patients with cerebral infarction were collected and studied in our hospital and other hospitals .The results of digital subtraction angiography(DSA) were used as the “gold standard” to compare the diagnostic effects of cervical cerebrovascular integration ultrasound and high-resolution MRI 3D black blood technology on vascular stenosis > 70% and ulcerative plaque. Results DSA showed that 74 patients had vascular stenosis > 70%.64 cases of true positive and 30 cases of true negative were detected by carotid integrative ultrasonography.High-resolution MRI 3D black blood technique was used to detect 71 true positive cases and 36 true negative cases.The diagnostic sensitivity,specificity and accuracy of high resolution MRI 3D black blood technique for diagnosing vascular stenosis > 70% were 95.95%(71/74),94.74%(36/38) and 94.64%(106/112),respectively.It was higher than 86.94%(64/74),78.95%(30/38),84.82%(95/112)( P<0.05).DSA showed the presence of ulcerative plaque in 60 patients.By ultrasonography,52 cases were true positive and 44 cases were true negative.Using high-resolution MRI 3D black blood technique,58 cases were true positive and 50 were true negative.The diagnostic sensitivity,specificity and accuracy of high-resolution MRI 3D blackblood in the diagnosis of ulcerative plaque were 86.67%(58/60),96.15%(50/52) and 96.43%(108/112),respectively.It was higher than that of carotid cerebrovascular integration ultrasound 86.67%(52/60),84.62%(44/52),85.71%(96/112)( P<0.05). Conclusion Compared with carotid integrative ultrasound,the application of high-resolution MRI 3D black blood technique in the diagnosis of cerebral infarction can improve the diagnosis effect of vascular stenosis and ulcerative plaque.

Objective To construct the nomogram model of postoperative hydrocephalus in patients with severe craniocerebral injury. Methods A total of 148 patients with severe craniocerebral injury who entered the hospital for surgical treatment from February 2019 to July 2022 were selected as the study objects.Logistic regression was used to screen the risk factors of postoperative hydrocephalus in patients with severe craniocerebral injury.R software was used to build the nomogram model of postoperative hydrocephalus in patients with severe craniocerebral injury,and the nomogram model was internally verified. Results Among 148 patients with severe craniocerebral injury,39 cases were complicated with hydrocephalus after operation,and the incidence of hydrocephalus was 26.35%(39/148).Logistic regression analysis showed that ventricular hemorrhage,subarachnoid hemorrhage,open injury,decompressive craniectomy and large bone window area(≥120 cm ²) were the risk factors for postoperative hydrocephalus in patients with severe head injury.Based on the risk factors,a nomogram model was established for patients with severe craniocerebral injury complicated with hydrocephalus after surgery.The correction curve of the nomogram model for patients with severe craniocerebral injury complicated with hydrocephalus after surgery showed that the predicted probability was basically consistent with the actual probability,and the area under the ROC curve of the model was 0.876(95%CI:0.814~0.938). Conclusion Ventricular hemorrhage,subarachnoid hemorrhage,open injury,decompressive craniectomy and large bone window area are risk factors for postoperative hydrocephalus in patients with severe craniocerebral injury.The accuracy of the nomographic model of postoperative hydrocephalus in patients with severe craniocerebral injury is good.

Objective To investigate the correlation effect of changes in Heart Rate variability(HRV) and hormone associated with Cushing's Disease during perioperative period.To explore a credible,effective and convenient monitoring indicator for patients with Cushing's Disease after the endoscopic endonasal surgery. Methods 30 patients with CD and 28 age,gender,BMI,blood pressure,fasting blood glucose and course of disease matched patients with nonfunctioning pituitary adenoma(NFPA) participated in the study.All the patients were investigated by using the Hospital Anxiety and Depression Scale(HADS) and Chinese perceived stress scale(CPSS) before operation.During perioperative period,All the patients were obtained the level of plasma ACTH and cortisol.HRV assessment was made in both time and frequency domain using the extracted RR interval data when patients in sleep. Results All the patients with CD achievedbiochemical remission.The low frequency(LF) and SD of all the RR intervals(SDNN) of patients with CD after operation were significantly( P＜0.05) higher than those before operation.There were no significant changes in HRV and hormone of patients with NFPA during perioperative period. Conclusion The LF and SDNN may be an effective indicator on patients with CD who attained biochemical remission after the endoscopic endonasal surgery.

Objective To analyze the occurrence of second primary malignancies (SPM) in patients with glioma and identify their risk factors. Methods Cases of glioma patients diagnosed from January 2000 to December 2021 were collected from the Surveillance,Epidemiology,and End Results (SEER) database.A retrospective analysis was performed on patients' demographic characteristics,clinical features,and SPM occurrence,using univariate and multivariate Cox regression analysis to identify risk factors. Results A total of 87,889 glioma patients were screened from the SEER database,with 1,043 developing SPM.The median overall survival (OS) for patients with SPM was 105.0 months.The most common sites for SPMs were the breast (34.08%),lung and bronchi (11.27%),and thyroid (10.99%).Multivariate Cox regression analysis showed that age (≥65 years:HR=3.047,95% CI:2.570~3.613, P＜0.001),pathology (glioblastoma:HR=2.091,95% CI:1.793~2.438, P＜0.001),and radiotherapy (HR=1.489,95% CI:1.276~1.736, P＜0.001) were independent risk factors for the occurrence of SPM. Conclusion Breast,lung and bronchi,and thyroid are the most common sites of SPM in glioma patients.Age,pathology,and radiotherapy are significant risk factors for SPM occurrence.Identifying these risk factors can guide personalized follow-up and screening for SPM in glioma patients.

Objective To investigate the relationship between Lin-12-like (C.elegans) (SEL1L) suppressant gene polymorphism and overall survival or temozolomide (TMZ) sensitivity in patients with glioma. Methods A total of 66 patients with pathologically confirmed glioma,including 32 cases of glioblastoma (GBM) and 34 cases of low-grade glioma (LGG),were enrolled between January 2019 and January 2023.All patients received TMZ adjuvant chemotherapy and/or radiotherapy after surgery.Tumor tissue O-6-methylguanine-DNA methyltransferase (MGMT) promoter methylation was measured by bisulfite transformation and pyrosequencing,and the frequency of rs12435998 single nucleotide genetic variation in SEL1L intron 3 in tumor tissue and peripheral blood mononuclear cells (control samples) was determined by SNaPShot ^TM assays.Overall survival (OST) was followed up. Results The allele frequency of rs12435998 minor allele G was 19.70% (26/132) in tumor samples,but only 9.85% (13/132) in control samples.The proportion of AG/GG genotypes in GBM patients was significantly higher ( P=0.047).In addition,the rs12435998 genotype in tumor tissue matched the rs12435998 genotype trend in control sample.Tumor rs12435998 genotype was not associated with OST in patients with GBM ( P=0.520) or MGMT hypermethylation ( P=0.299).However,LGG patients with rs12435998AG/GG genotype had a shorter median OST (17.10 months vs.53.20 months) (HR:6.844;95%CI:1.991~23.530; P=0.002).Similarly,for MGMT hypomethylation patients,the median OST in patients with tumor rs12435998AG/GG genotype was shorter than that in patients with AA genotype (7.10 months vs.44.80 months) (HR:2.937;95%CI:1.155~7.464; P=0.024). Conclusion SEL1L rs12435998 gene polymorphism may be a new molecular stratification of LGG,and its G suballele is associated with poor TMZ sensitivity and survival prognosis.

Objective To explore the clinical characteristics,gene mutation characteristics and therapeutic effect of ketogenic diet on glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods A retrospective analysis was performed on 8 children with GLUT1-DS admitted to our hospital from January 2019 to December 2023,and the detailed clinical manifestations of these 8 cases were recorded. Results Among the 8 cases,5 were males and 3 females.The age of onset ranged from 3 months to 96 months.Epilepsy was the first onset symptom of 8 cases.Paroxysmal dyskinesia was the first onset symptom of 2 cases.Psychobehavioral abnormalities combined with movement disorders was the first onset symptom of 1 case.6 cases had different degrees of psychomotor retardation.CSF examination was performed in all patients,and CSF sugar in all 8 cases was reduced to varying degrees,ranging from 1.6-2.3mmol/L,and CSF sugar/glucose ratio ranged from 0.28 to 0.48.3 cases showed slow background activity;3 cases were normal EEG;Epileptiform discharge occurred in 2 cases.5 cases were normal MRI and other cases had nonspecific changes.Genetic tests were performed in all 8 cases,among which 4 cases were missense variation,3 were frameshift variation and 1 was exon large fragment deletion mutation.All the children were treated with ketogenic diet,starting with classic KDT (2:1),the course of treatment ranged from 7 months to 41 months,and no one gave up due to ketogenic adverse reactions or intolerance.With the exception of 1 case,others had different degrees of improvement in seizure control,dyskinesia and cognitive function. Conclusion The clinical manifestations of glucose transporter type 1 deficiency syndrome are varied.For patients with refractory seizure,developmental retardation and complex dyskinesia,CSF examination or SLC2A1 gene mutation testing can help in the diagnosis of GLUT1-DS.Early initiation of ketogenic diet therapy may improve the symptom and prognosis of the patients.

Objective To observe the effects of microvascular Doppler ultrasound (MVD) assisted clipping on cerebral hemodynamics and nerve function in patients with intracranial aneurysm (ICA). Methods Seventy-eight patients with ICA in our hospital from February 2023 to March 2024 were selected and divided into MVD group ( n=39) and conventional group ( n=39)according to surgical methods.The conventional group was treated with craniotomy and the MVD group was treated with MVD assisted craniotomy.The surgical effect,National Institutes of Health Stroke Scale (NIHSS) score,Baethel index (BI),cerebral hemodynamic index (anterior cerebral artery blood flow rate,middle artery blood flow rate,cerebrospinal fluid pressure) and complications were compared between the two groups. Results The excellent and good rate of MVD group was 94.87% higher than that of conventional group 79.49%( P<0.05).The NIHSS score and BI index of MVD group were lower and higher than those of conventional group 1 week after operation ( P<0.05).One week after surgery,the anterior cerebral artery blood flow velocity,middle artery blood flow velocity and cerebrospinal fluid pressure in MVD group were lower than those in conventional group ( P<0.05).The complication rate of MVD group was 5.13% lower than that of conventional group 20.51% ( P<0.05). Conclusion MVD-assisted clipping in the treatment of ICA patients can improve the surgical effect,improve cerebral hemodynamics,and promote the recovery of nerve function,with high safety.

Objective To explore the related risk factors of postoperative cerebral infarction in patients with hypertensive cerebral hemorrhage. Methods A total of 78 patients with hypertensive cerebral hemorrhage who were treated by surgery in our hospital from November 2018 to November 2023were selected,and the risk factors of 20 patients with postoperative cerebral infarction were analyzed by single factor,and the statistically significant high-risk factors were screened for Logistic regression analysis. Results Univariate analysis showed that gender,age,smoking,drinking,history of cerebral infarction,bleeding site,bleeding volume,pupil size,GCS score and surgical methods were not risk factors for postoperative cerebral infarction in patients with hypertensive cerebral hemorrhage ( P＞0.05);however,the duration of hypertension≥20 years,brain herniation,midline shift ≥5 mm and intraoperative hypotension were the risk factors,and the difference was statistically significant ( P＜0.05).Logistic regression analysis showed that intraoperative hypotension was its independent riskfactor,the difference was statistically significant ( P＜0.05). Conclusion The duration of hypertension≥20 years,brain herniation,midline shift≥5 mm and intraoperative hypotension are risk factors for postoperative cerebral infarction in patients with hypertensive intracerebral hemorrhage.Intraoperative hypotension is an independent risk factor,and intraoperative blood pressure should be well controlled,and patients with high risk factors should be treated to prevent cerebral infarction.

Objective To investigate the correlation between stroke and functional prognosis of patients with cryptogenic stroke (CS) by atrial fibrillation Stroke Risk score (CHADS ₂) and atrial fibrillation Stroke risk comprehensive score (CHA2DS2-VASc). Methods 150 patients with CS who came to our hospital from January 2021 to October 2023 were selected as the study objects.The modified Rankin Scale (mRS) was used to evaluate the prognosis of the patients,and the patients were divided into good prognosis group ( n=82) and poor prognosis group ( n=68).General data and CHADS ₂ and CHA2DS ₂-VASc scores before admission were compared between the two groups.Receiver operating characteristic (ROC) was used to evaluate the predictive value of CHADS ₂ and CHA2DS ₂-VASc scores in patients with CS.The risk factors of poor prognosis in CS patients were analyzed by multivariate Logistic regression,and the risk assessment scale was established and verified.Logistic regression model was used to analyze the relationship between CHADS ₂ and CHA2DS ₂-VASc scores and poor prognosis in CS patients. Results Compared with patients in the good prognosis group,the proportion of patients with heart failure,stroke history,admission to the National Institute of Health stroke scale (NIHSS) score,serumcreatinine (serumcreatinine,Serumcreatinine) in the poor prognosis group was higher than that in the good prognosis group.Scr),brain natriuretic peptide (BNP),uric acid,CHADS ₂ and CHA2DS ₂-VASc scores were higher,while left ventricular ejection fraction,LVEF levels were lower ( P＜0.05);After adjusting for confounding factors,CHADS ₂ and CHA2DS ₂-VASc were positively correlated with poor prognosis in CS patients.Subgroup analysis showed that patients with higher CHADS ₂ and CHA2DS ₂-VASc were more significantly associated with poor prognosis in CS patients (P interaction =0.010,0.008).Multivariate Logistic regression analysis showed that heart failure,stroke history,CHADS ₂,CHA2DS2-VASC,NIHSS score on admission,increased BNP level and decreased LVEF level were all risk factors for poor prognosis ( P＜0.05).CHADS ₂ and CHA2DS ₂-VASc scores were effective in predicting poor prognosis in CS patients.And the combination of the two predicted the prognosis was poor and the prediction efficiency was higher.The sensitivity and specificity of 0.5 points were 74.75% and 70.28%,respectively,and the risk of poor prognosis was defined as low risk,2-2.5 as medium risk,and ≥3.5 as high risk.The remaining 100 cases were used to verify the scale.The sensitivity was 79.32 %,the specificity was 78.85 %,the positive predictive value was 70.22 %,and the negative predictive value was 85.64 %. Conclusion For CS patients,CHADS ₂ and CHA2DS ₂-VASc scores have predictive value for patients with poor prognosis,and the combination of the two can predict the prognosis of CS patients with higher predictive efficacy.