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The application of neuroendoscopy combined with microscope in the resection of cerebellopontine angle epidermoid cyst
Wang Xuanzhi, Li Dongxue, Jiang Xiaofeng, et al
Abstract23)           
Objective To investigate the application value of neuroendoscopy combined with microscope in the resection of cerebellopontine angle epidermoid cyst. Methods he clinical data of 15 cases of cerebellopontine angle epidermoid cyst were retrospectively analyzed.The posterior suboccipital sigmoid sinus approach was adopted in all cases,and the lesions were resected by neuroendoscope combined with microscope. Results All of the 15 patients,12 (80.0%) were completely resected.Subtotal resection was performed in 2 cases (13.3%).The majority was resected in 1 case (6.7%).After 2-22 months follow-up,10 patients with clinical symptoms were relieved.One patient developed new abducens nerve palsy within 1 week after surgery,and one patient developed mild facial paralysis,which returned to normal within 6 months after surgery.One patient developed aseptic meningitis postoperation and was cured by external drainage of lumbar cisterna. Conclusion Microscopy and neuroendoscopy are surgical instruments,both of them have their own advantages and disadvantages.For the operation of complex cerebellopontine angle epidermoid cyst,the advantages of both surgical instruments should be utilized to remove the tumor as much as possible while protecting the patient's neurological function and reducing complications.
2023, 36 (6): 339-342. DOI: 10.19854/j.cnki.1008-2425.2023.06.0004
Pituicytoma:2 cases and literature review
Li Zheng, Niu Chaoshi, Mei Jiaming, Wang xuanzhi, ChenPeng
Abstract25)           
Objective To investigate the clinical and imaging manifestations,pathology and treatment of pituicytoma. Methods The clinical data,imaging findings,pathology and treatment of 2 patients who were diagnosed as pituicytoma in our hospital from January 2019 to October 2023 were retrospectively analyzed,and the relevant literature was reviewed. Results There were 2 patients of pituicytoma,1 male and 1 female.The main symptoms include headache and vision decreased,and the head magnetic resonance imaging showed iso-intense on T1 weighted imaging and hypo- or iso-intense on T2 weighted imaging in and above the sellar region,substantial lesions were increased signal intensity after enhancement.Transnasal sphenoid approach under microscope and neuroendoscope were performed respectively.The postoperative pathology was pituicytoma (WHO Grade I),which was not treated with radiotherapy.Two cases were followed up for 4 years and 3 months without recurrence. Conclusion Pituicytoma is rare and easily misdiagnosed,the blood supply of tumor tissue is affluent,total surgical resection is the main way of treatment.
2024, 37 (1): 48-53. DOI: 10.19854/j.cnki.1008-2425.2024.01.0010
Abstract17)           
2024, 37 (1): 54-62. DOI: 10.19854/j.cnki.1008-2425.2024.01.00011
Research on the effect of carmustine combined with temozolomide in the treatment of glioma by regulating the levels of growth factors and their receptors
Du Bei, Gao Kai, Liu Changquan, Liu Yingyan
Abstract6)      PDF (831KB)(0)      
Objective To investigate theresearch on the effect of carmustine combined with temozolomide in the treatment of glioma by regulating the levels of growth factors and their receptors. Methods sA retrospective analysis was conducted to select 122 glioma patients admitted to our hospital from September 2018 to August 2020.All patients underwent surgical resection.According to the chemotherapy regimen, the patients were divided into the temozolomide group and the combination group.The neurological functions of the two groups were compared, ability to carry out activities of daily living, levels of growth factors and their receptors (VEGF, EGF and EGFR), quality of life, levels of T lymphocyte subpopulations, and adverse reactions.Follow-up was conducted until July 2023, and the overall survival and progression-free survival of the two groups of patients were compared. Results Six months post-surgery, patients in the combined therapy group manifested a significantly diminished CSS score (17.05±4.02 vs 26.95±5.30, t=11.742, P=0.000) in contrast to the temozolomide-only group, while their modified Barthel index (75.99±10.05 vs 62.15±9.12, t=7.957, P=0.000) markedly surpassed that of the temozolomide group.The KPS(84.28±8.41 vs 72.92±7.08, t=19.970, P=0.000) and QOL score (44.39±4.51 vs 35.81±3.50, t=11.498, P=0.000) of the combination group were significantly elevated compared to the temozolomide-only group.Further, patients under combined therapy exhibited significantly elevated levels of CD3+ (32.55±3.14 vs 28.67±3.71, t=6.135, P=0.000), CD4+ (56.49±5.03 vs 40.84±4.51, t=17.860, P=0.000), and CD4+/CD8+ ratio (2.41±0.25 vs 1.12±0.17, t=33.827, P=0.000) as opposed to those under temozolomide alone, whereas their CD8+ levels (23.48±2.87 vs 36.71±3.81, t=21.186, P=0.000) were significantly decreased in comparison.Additionally, combined group patients demonstrated significantly reduced levels of VEGF (158.33±19.05 vs 235.59±21.61, t=20.962, P=0.000), EGF (48.11±4.81 vs 80.78±6.54, t=30.702, P=0.000), EGFR (7.05±1.04 vs 11.32±3.09, t=9.727, P=0.000) and VEGFR (2.51±0.38 vs 3.10±0.23, t=10.591, P=0.000) compared to the temozolomide-only group.This denotes a profound augmentation in therapeutic efficacy with the implementation of combined therapy, highlighting the pivotal role of integrated treatment modalities in optimizing clinical outcomes.During treatment, patients in both groups experienced side effects such as nausea, vomiting, leukopenia, thrombocytopenia, anemia, and nephrotoxicity, and the incidence of grade I~ II side effects exceeded grade III~IV, there was no statistical difference between the two groups.significance ( P>0.05).After 3 years of follow-up, 2 cases in the temozolomide group and 3 cases in the combination group were lost to follow-up.The 3-year overall survival rate in the combination group was 63.96%, which was higher than 48.53% in the temozolomide group, but there was no significant difference ( χ 2=1.847, P=0.174);the 3-year progression-free survival rate of the combination group was 55.56%, which was significantly higher than the 30.88% of the temozolomide group ( χ 2=7.771, P=0.005). Conclusion The administration of Carmustine in conjunction with Temozolomide post-surgery has demonstrated efficacy in augmenting neurological function, bolstering capabilities for conducting daily activities, and enhancing quality of life for glioma patients.This combined treatment approach also aids in the restoration of T lymphocyte subpopulation levels, extends survival duration, and mitigates the proliferation of growth factors.The effectiveness and safety of this therapeutic combination are correlated with its receptor concentration, warranting further clinical investigation and control to validate its benefits and optimize its application in clinical settings.
2024, 37 (2): 107-115. DOI: 10.19854/j.cnki.1008-2425.2024.02.0008
The application of 3D printed nasal skull base tumor model in neurosurgery clinical and teaching
Wang Xuanzhi, Li Zhang, Zhang Weiwen, Li Jianji, Jiang Xiaofeng, Niu Chaoshi
Abstract21)           
Objective To explore the application value of 3D printed nasal skull base tumor model in the clinical and teaching of neurosurgery. Methods Total of 13 patients with skull base tumor were selected,the virtual 3D model was reconstructed and the equal-scale tumor model was 3D printed according to the image data before surgery.40 students who participated in the standardized training of residents in the neurosurgery department were selected as teaching objects,and they were randomly divided into the traditional teaching group and the 3D printing model teaching group.The teaching effect of the two teaching modes was evaluated from the examination of theoretical knowledge and clinical skills,the satisfaction of teaching methods,the increase of understanding of neuroanatomical structure,the improvement of three-dimensional space imagination and the stimulation of active learning interest.Before surgery,the surgeon evaluated the spatial location of the tumor,preoperative talk,preoperative planning,intraoperative reference and postoperative anastomosis according to the 3D printed tumor model and traditional image data. Results The virtual 3D model was reconstructed and the equal-scale tumor model was 3D printed before operation in all the 13 patients with skull base tumor.The 3D model clearly showed the tumor and its adjacent skull,blood vessels and nerves.We found that students in the 3D printed model teaching group had better scores in the assessment of theoretical knowledge and clinical skills than those in the traditional teaching group,and the difference between the two groups was statistically significant ( P<0.05).Moreover,the 3D printed model teaching group was higher than the traditional teaching group in terms of satisfaction with teaching methods,increasing understanding of neuroanatomical structure,improving three-dimensional space imagination and stimulating active learning interest.We also found that,in addition to preoperative planning,the 3D printed model group scored higher than the traditional image group on tumor spatial display,preoperative talk,intraoperative reference,and postoperative anastomosis.The difference between the two groups was statistically significant ( P<0.05). Conclusion Compared with the traditional surgical planning and clinical teaching based on two-dimensional image data,3D printed tumor model has better surgical planning and clinical teaching value.
2024, 37 (1): 17-21. DOI: 10.19854/j.cnki.1008-2425.2024.01.0004
Protective effect of Hirsutine on animal models of cerebral ischemia-reperfusion injury
Jiang Hua, Xu Da, Yang Yaling, Li Qingjing
Abstract12)           
Objective To explore the neuroprotective effect and potential mechanism of Hirsutine in rat cerebral ischemia-reperfusion injury (CIRI). Methods SD rats were used to establish a middle cerebral artery occlusion reperfusion (MCAO/R) model and were divided into 6 groups ( n=6):Control group; Model group; Hirsutine low-dose (5 mg/kg) group; Hirsutine medium dose (10 mg/kg) group; Hirsutine high-dose (20 mg/kg) group; Edaravone (30 mg/kg,positive control) group.TTC staining was performed on brain tissue,the cerebral infarction and neurobehavioral defects were measured.HE and Nissl staining were used to detect neuronal damage.Tunel staining was used to detect hippocampal cell apoptosis; ELISA method was used to detect the levels of reactive oxygen species (ROS),malondialdehyde (MDA),superoxide dismutase (SOD),and glutathione peroxidase (GSH Px) in brain tissues.Western blotting is used to detect the expression level of proteins related to the mechanism. Results The results showed that Hirsutine treatment significantly reduced cerebral infarction and neuronal damage in MCAO/R rats,and improved brain neurobehavioral deficits.Hirsutine effectively inhibited oxidative stress and cell apoptosis.In addition,Hirsutine activated the PI3K/Akt/Nrf2 pathway in MCAO/R rat neurons. Conclusion Hirsutine improveed oxidative stress and apoptosis in MCAO/R rat brain by activating PI3K/Akt/ Nrf2 signaling pathway,thereby alleviating CIRI-induced neuronal injury.
2024, 37 (1): 22-27. DOI: 10.19854/j.cnki.1008-2425.2024.01.0005
Characteristics and clinical significance of serum lipid metabolism in patients with Moyamoya disease
Wang Ajun, Zhang Nan, Li Nan, Yang Tao, Li Dongxue, Xia Chengyu
Abstract19)           
Objective To analyze the characteristics of blood lipid metabolism in patients with Moyamoya disease(MMD) and the relationship between blood lipid levels and clinical features. Methods The clinical characteristics and blood lipid test results of 214MMD patients in Anhui Provincial Hospital Affiliated to Anhui Medical University from January 2015 to October 2023 were collected,and 214 healthy subjects were selected as the control group.SPSS 26.0 was used to compare the lipid levels and the characteristics of abnormal lipid metabolism in each group,and the correlation between lipid levels and clinical characteristics was analyzed. Results The prevalence of abnormal lipid metabolism in MMD was 50.9%,mainly hypertriglyceridemia and low HDL-C.Compared with the control group,the level of TG in MMD patients was significantly higher ( P<0.05).With the increase of BMI,the level of TG was higher and the level of HDL-C was lower ( P<0.05).The levels of TC,TG and LDL-C in ischemic patients were higher than those in hemorrhagic patients. Conclusion Patients with MMD have a high rate of dyslipidemia,mainly hypertriglyceridemia and low HDL-C,especially in patients with cerebral infarction as the first symptom.In clinical work,patients with MMD should be intervened as early as possible.
2024, 37 (1): 28-32. DOI: 10.19854/j.cnki.1008-2425.2024.01.0006
Analysis of the therapeutic effects of intraoperative VR assisted neuroendoscopic hematoma removal and stereotactic intracranial hematoma drainage in the treatment of basal ganglia HICH
Wu Qiang, Han Zhiqiang, Zhao Jianchun, Pang Yiqiang, Zhang Haitao, Tian Weixia, LAN Xiaoyan, Hao Chenyang
Abstract11)           
Objective To explore the efficacy of intraoperative virtual reality (VR) assisted neuroendoscopic hematoma removal and stereotactic drainage in patients with hypertensive intracerebral hemorrhage (HICH) in the basal ganglia region. Methods 106 HICH patients admitted to the hospital from September 2022 to May 2023 were selected as the study subjects.They were divided into group A and group B by random number table method.Group A was treated with intraoperative VR-assisted neural endoscopic hematoma evacuation (NEIHE),and group B was treated with stereotactic intracranial hematoma drainage surgery.The perioperative indicators,puncture conditions,hematoma clearance,and levels of inflammatory indicators before and 3 months after surgery were compared between the two groups,and the prognosis of the two groups 3 months after surgery was observed. Results The surgical time in Group A was longer than that in Group B,and the postoperative hematoma drainage time and hospitalization time were shorter than those in Group B ( P<0.05).The success rate of the first puncture in Group A was higher than that in Group B,and the hematoma clearance rate on the 1st and 5th day after surgery was higher than that in Group B ( P<0.05).The levels of serum C-reactive protein (CRP),interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in the two groups were lower than those before operation,and those in group A were lower than those in group B at 3 months after operation ( P<0.05).The National Institutes of Health Stroke Scale (NIHSS) scores of both groups decreased 3 months after surgery,and Group A was lower than Group B.The Barthel (BI) index increased in both groups,and Group A was higher than Group B ( P<0.05). Conclusion Compared to stereotactic intracranial hematoma drainage,intraoperative VR assisted NEIHE can improve the success rate of intraoperative puncture and hematoma removal rate,shorten the postoperative hematoma drainage time and hospitalization time of patients,reduce the body's inflammatory response,and promote the recovery of neurological function and daily life ability of patients.
2024, 37 (1): 33-38. DOI: 10.19854/j.cnki.1008-2425.2024.01.0007
Clinical study on the treatment of severe brainstem hemorrhage through subtemporal approach assisted by neuroendoscopy
Yang Lihui, Jia Yanan, Song Jining, Ma Kejie, Su Jianlong, Song Zhijun
Abstract14)           
Objective Analyze the clinical efficacy of endoscopic assisted subtemporal approach in the treatment of severe brainstem hemorrhage. Methods Retrospective analysis of 78 patients with severe brainstem hemorrhage admitted to our hospital from January 2021 to January 2023,according to the choice of the patients' family members,they were divided into operation group and conservative management.There were 36 cases in the surgical group and 42 cases in the conservative group.The surgical group used endoscope to clear the hematoma through the subtemporal approach,while the conservative group used symptomatic treatment according to the treatment guidelines for cerebral hemorrhage.Compare the complications,clinical prognosis,and changes in serum NSE and S100B levels between the two groups. Results Compared with the conservative group,the number of patients with severe pneumonia,lower limb venous thrombosis,electrolyte disorder and Irritability ulcer in the operation group was less than that in the conservative group.The difference between the two groups was statistically significant ( P<0.05).By comparing the Glasgow prognostic score (GOS) of the two groups,it was found that the number of patients with normal life and mild disability in the operation group was more than that in the Conservative management group,and the number of patients with severe disability was less than that in the Conservative management group.The difference between the two groups was statistically significant ( P<0.05).After 1 and 2 weeks of treatment,it was found that the levels of NSE and S100B in the serum of the surgical group were significantly lower than those of the conservative group,with a statistically significant difference ( P<0.05). Conclusion The treatment of severe brainstem hemorrhage through the infratemporal approach assisted by neuroendoscopy can reduce complications and mortality in patients,and improve their prognosis.
2024, 37 (1): 39-43. DOI: 10.19854/j.cnki.1008-2425.2024.01.0008
Curative effect of cerebrospinal fluid extraction on puncture and drainage for the treatment of hypertensive intracerebral hemorrhage on the basal ganglia
Huangfu Luokai, Mao Jinlong, Rao Wei, Zou Mingming, Cao Weidong, Zhang Jianning
Abstract16)           
Objective To explore the influence of cerebrospinal fluid extraction on drainage effect and short-term prognosis in patients with hypertensive intracerebral hemorrhage (HICH) on the basal ganglia undergoing puncture and drainage combined with urokinase. Methods Clinical data of 75 HICH patients receiving puncture and drainage combined with urokinas were analyzed retrospectively.Based on the presence or absence of CSF drainage during treatment,the differences of drainage effect,complications and short-term prognosis were compared between the group with cerebrospinal fluid extraction (A group) and the group without cerebrospinal fluid extraction (B group). Results Compared with group A,the residue hematoma volume was lower ( P<0.001) in group B.And the lengths of hospitalisation and drain tube stay were shorter in group B( P=0.002, P=0.003).While no significant differences in the postoperative complications and short-term prognosis were found between the two groups ( P>0.05).The rate of intracranial infection was significantly elevated in group A( P=0.027).Patients in Group A used less mannitol during hospitalization ( P=0.038). Conclusion It had a better drainage effect without cerebrospinal fluid extraction for HICH in the basal ganglia patients receiving puncture and drainage combined with urokinas.Meanwhile,the risk of intracranial infection and the average length of hospital stay reduced.Patients with intraventricular hemorrhage puncture and drainage combined with urokinas was an effective treatment for HICH on the basal ganglia.
2024, 37 (1): 44-47. DOI: 10.19854/j.cnki.1008-2425.2024.01.0009
Rechargeable and remote programmable 3.0T magnetic resonance compatible deep brain stimulation system for the treatment of Parkinson's disease:a one-year follow-up clinical effect and imaging analysis
Niu Chaoshi, Chen peng, Xiong Chi
Abstract31)           
Objective Exploring the therapeutic effects,imaging,and therapeutic mechanisms of a rechargeable and remotely programmable 3.0T MRI compatible deep brain stimulation system in patients with Parkinson's disease after subthalamic nucleus stimulation surgery. Methods Analyze the clinical data of one Parkinson's patient treated with the world's first rechargeable and remote 3.0T MRI compatible deep brain stimulation system at the Neurosurgery Department of the First Affiliated Hospital of the University of Science and Technology of China (Anhui Provincial Hospital) on October 10,2022.Follow up data for one year will be analyzed.3.0T cranial magnetic resonance imaging was performed 1 week and 1 year postoperatively to evaluate clinical symptoms,magnetic resonance imaging,and stability of electrode impedance. Results From 4 weeks after surgery to 1 year of follow-up,the improvement rates of exercise (UPDRS-III and UPDRS-IV were 95.31% and 75.00%,respectively) and non exercise symptoms (NMSS,PDSS,PDQ39,MoCA,HAMA,HAMD,CCS improvement rates were 85.42%,24.53%,91.23%,7.14%,84.61%,100.00%,57.14%,respectively) were significantly improved,and the dosage of medication was reduced (LED decreased by 34.61%),with stable stimulation parameters.3.0T magnetic resonance imaging examination (T1,T2,3DT1,DTI,rs fMRI) showed normal imaging,and the structural image could clearly display the position of electrodes and nuclei.Functional magnetic resonance imaging indicated increased local neuronal activity and enhanced brain functional connectivity in the turned on state.The electrode impedance during the inspection process is stable and no adverse events have occurred. Conclusion The application of 3.0T MRI compatible deep brain stimulation equipment in the surgical treatment of Parkinson's disease patients has a definite effect,while improving the accuracy of postoperative imaging evaluation.It is of great value for exploring the imaging mechanism of deep brain stimulation treatment for Parkinson's disease.
2023, 36 (6): 321-326. DOI: 10.19854/j.cnki.1008-2425.2023.06.0001
Multimodal magnetic resonance study of structural and functional brain alterations in patients with primary trigeminal neuralgia.
Zhang Shufeng, Yin Ran, He ZhanBiao, et al
Abstract12)           
Objective The objective of this study was to study the abnormal changes in brain structure and function in patients with primary trigeminal neuralgia (PTN) by using multimodal magnetic resonance technology,to further explore the pathological mechanisms of PTN,and to identify potential therapeutic targets for PTN. Methods T1WI high-resolution MRI scans and resting-state functional MRI scans were performed on 22 PTN patients and 20 healthy individuals.Brain areas where there were differences in brain grey matter volume(GMV)between patients and healthy individuals was identifide by using voxel-based morphological analysis.The brain regions with variations in GMV were used as areas of interest to establish seed points and to detected brain links with significantly different functional connetivity between the two groups. Results Compared to healthy controls,the total GMV was reduced in the PTN patient group.Among the grey matter structures,the GMV of the left anterior cingulate gyrus (ACC),right postcentral gyrus,right middle temporal gyrus,left hippocampus,and left superior temporal gyrus were reduced in PTN patients compared to healthy controls,while the GMV of the patient's left ACC was negatively correlated with the course of the disease.The functional links between the left ACC and the right inferior frontal gyrus,the left insula,and the right cerebellar Crus II area were also enhanced in PTN patients compared to healthy subjects. Conclusion ACC is an important part of the pathological mechanism associated with the central nervous system of PTN,while ACC may be a potential therapeutic target for PTN.
2023, 36 (6): 327-333. DOI: 10.19854/j.cnki.1008-2425.2023.06.0002
Evaluation of neuroendoscope-assisted microvascular decompression in the treatment of primary hemifacial spasm
Xiong Dengxi, Zhao Peng, Li Zhihong, et al
Abstract17)           
Objective Introduction of neuroendoscopic-assisted techniques in the surgical treatment of microvascular decompression of primary facial muscle spasm and discussion of their efficacy. Methods Fifty patients with primary hemifacial spasm treated in our hospital from January 2019 to January 2022 were randomly divided into two groups.The control group ( n=25) and the observation group ( n=25) were treated with traditional microvascular decompression and the latter were treated with microvascular decompression assisted by neuroendoscope.To study the operation time,hospital stay,total effective rate of clinical treatment,muscle spasm intensity score,hemifacial spasm frequency score,facial disability index (Facial Disability Index,FDI)score,hearing level,specific quality of life (HemifacialSpasm-8,HFS-8) score,complication incidence and recurrence rate before and 6 months after treatment. Results The time of operation and hospitalization in the observation group was shorter than that in the control group,the scores of muscle spasm intensity and hemifacial spasm frequency after 6 months treatment,the incidence of complications after 7 days and 6 months follow-up,and the recurrence rate of 12 months follow-up in the observation group were lower than those in the control group,and the total effective rate,FDI score,hearing score and HFS-8 score in the observation group were higher than those in the control group.There were significant differences in the above-mentioned indexes between the two groups ( P<0.05). Conclusion The clinical effect and safety of microvascular decompression assisted by neuroendoscopy in the treatment of patients with primary hemifacial spasm are better,it is more effective to reduce the incidence of short-term and long-term complications,avoid recurrence,and improve the quality of life of patients,and wider clinical prospect.
2023, 36 (6): 334-338. DOI: 10.19854/j.cnki.1008-2425.2023.06.0003
Abstract6)      PDF (751KB)(0)      
2024, 37 (2): 116-119. DOI: 10.19854/j.cnki.1008-2425.2024.02.0009
Abstract11)      PDF (735KB)(0)      
2024, 37 (2): 120-122. DOI: 10.19854/j.cnki.1008-2425.2024.02.0010
Abstract12)      PDF (494KB)(0)      
2024, 37 (2): 123-126. DOI: 10.19854/j.cnki.1008-2425.2024.02.0011
Abstract49)      PDF (368KB)(0)      
2024, 37 (2): 127-128. DOI: 10.19854/j.cnki.1008-2425.2024.02.0012
Genetic study of tuberous sclerosis pedigree caused by TSC1 gene frameshift mutation
Yin Xiaojing, Wang li, Qiao Pingyun, Xu kaili, Yang Zhixiao, Gong Gaoyun, Liufen, Gaoli
Abstract9)           
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.
2024, 37 (3): 129-133. DOI: 10.19854/j.cnki.1008-2425.2024.03.0001
Clinical study of serum vitamin D level and sympathetic skin response in patients with Parkinson's disease
Haihua Zhao, Cai Ming
Abstract8)           
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.
2024, 37 (3): 134-140. DOI: 10.19854/j.cnki.1008-2425.2024.03.0002
Analysis of the application of home-based rehabilitation by telecommuting for cerebral palsy children after SDR
Xu Jinshan, Li Guangyu, Liu Wei, Jia Li, Liu hongbo, Liang Shuli
Abstract5)           
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.
2024, 37 (3): 141-145. DOI: 10.19854/j.cnki.1008-2425.2024.03.0003