Radiomics Nomogram Improves the Prediction of Epilepsy in Patients With Gliomas.

Purpose: To investigate the association between clinic-radiological features and glioma-associated epilepsy (GAE), we developed and validated a radiomics nomogram for predicting GAE in WHO grade II~IV gliomas. Methods: This retrospective study consecutively enrolled 380 adult patients with glioma (266 in the training cohort and 114 in the testing cohort). Regions of interest, including the entire tumor and peritumoral edema, were drawn manually. The semantic radiological characteristics were assessed by a radiologist with 15 years of experience in neuro-oncology. A clinic-radiological model, radiomic signature, and a combined model were built for predicting GAE. The combined model was visualized as a radiomics nomogram. The AUC was used to evaluate model classification performance, and the McNemar test and Delong test were used to compare the performance among the models. Statistical analysis was performed using SPSS software, and p < 0.05 was regarded as statistically significant. Results: The combined model reached the highest AUC with the testing cohort (training cohort, 0.911 [95% CI, 0.878-0.942]; testing cohort, 0.866 [95% CI, 0.790-0.929]). The McNemar test revealed that the differences among the accuracies of the clinic-radiological model, radiomic signature, and combined model in predicting GAE in the testing cohorts (p > 0.05) were not significantly different. The DeLong tests showed that the difference between the performance of the radiomic signature and the combined model was significant (p < 0.05). Conclusion: The radiomics nomogram predicted seizures in patients with glioma non-invasively, simply, and practically. Compared with the radiomics models, comprehensive clinic-radiological imaging signs observed by the naked eye have non-discriminatory performance in predicting GAE.

Advances in magnetic resonance imaging of impulsive-compulsive behavior in Parkinson′s disease / 中华神经科杂志

Impulsive-compulsive behaviors (ICBs), one of the non-motor symptoms of Parkinson′s disease (PD), may be attributed to dopaminergic dysfunction and dopamine replacement therapy. At present, understanding of ICBs, mechanisms and exploration of treatment largely depend on neuroimaging research. Despite contradictions among the findings, most evidence indicated that PD patients with ICBs showed decreased thickness in frontal and temporal cortex and the volume of subcortical nuclei when compared to those without ICBs. And the occurrence of ICBs is associated with relatively preserved white-matter integrity in the brain regions involved in reward-related behaviors. This article will give an overview of the magnetic resonance research of PD related ICBs including cortical thickness, diffusion tensor imaging, resting state and task state functional magnetic resonance imaging analysis, which lays a foundation for further imaging studies, revealing the pathogenesis and exploring the potential treatment options.

Serological and genotyping results of ABO subtypes in tumor patients / 中国输血杂志

【Objective】 To analyze ABO subtype samples from tumor patients using both blood group serology and molecular biology technology. 【Methods】 32 samples of ABO subtype, identified by routine blood group serology in the Department of Transfusion, of solid tumor patients treated in Cancer Hospital of Chinese Academy of Medical Sciences from July 2014 to December 2019 were analyzed by sequence specific primer polymerase chain reaction (PCR-SSP) and gene sequencing (PCR-SBT). 5 samples were detected by PCR-SSP, 28 PCR-SBT, 1 both PCR-SSP and PCR-SBT. The serological and genotyping results were comparatively analyzed. 【Results】 66% (21/32) of the samples in this study were confirmed as ABO subtypes or harbored mutations by genotyping assays, including 7 cases of B(A).04, 2 of B(A).02, 1 of cis AB.01, 3 of BW.12, 4 of BEL.03, 1 of AEL.02, 1 of B 974G>C, 1 of A 797insT, and 1 of A 617C>G. Among the 21 subtype samples or harbored mutations, 15 had the same blood group serology and genotyping results, and 6 had no A or B antigen detected in the serological adsorption-elution test. An additional 34% (11/32) of the samples had no variants in the gene responsible for ABO subtype detected by molecular analysis. 【Conclusion】 Molecular biology techniques can assist in the identification of difficult ABO blood types caused by weakened antigens or antibodies, and subtypes in solid tumor patients, which is an important auxiliary method for accurate identification of difficult ABO blood group.

Research on hot rolling scheduling problem based on Two-phase Pareto algorithm.

Under the background of excess capacity and energy saving in iron and steel enterprises, the hot rolling batch scheduling problem based on energy saving is a multi-objective and multi constraint optimization problem. In this paper, a hybrid multi-objective prize-collecting vehicle routing problem (Hybrid Price Collect Vehicle Routing Problem, HPCVRP) model is established to ensure minimum energy consumption, meet process rules, and maximize resource utilization. A two-phase Pareto search algorithm (2PPLS) is designed to solve this model. The improved MOEA/D with a penalty based boundary intersection distance (PBI) algorithm (MOEA/D-PBI) is introduced to decompose the HPCVRP in the first phase. In the second phase, the multi-objective ant colony system (MOACS) and Pareto local search (PLS) algorithm is used to generate approximate Pareto-optimal solutions. The final solution is then selected according to the actual demand and preference. In the simulation experiment, the 2PPLS is compared with five other algorithms, which shows the superiority of 2PPLS. Finally, the experiment was carried out on actual slab data from a steel plant in Shanghai. The results show that the model and algorithm can effectively reduce the energy consumption in the process of hot rolling batch scheduling.

Decomposition and adaptive weight adjustment method with biogeography/complex algorithm for many-objective optimization.

In the EMO (evolutionary multi-objective, EMO) algorithm, MaOPs (many objective optimization problems, MaOPs) are sometimes difficult to keep the balance of convergence and diversity. The decomposition based EMO developed for MaOPs has been proved to be effective, and BBO/Complex (the biogeography based optimization for complex system, BBO/Complex) algorithm is a low complexity algorithm. In this paper, a decomposition and adaptive weight adjustment based BBO/Complex algorithm (DAWA-BBO/Complex) for MaOPs is proposed. First, a new method based on crowding distance is designed to generate a set of weight vectors with good uniformly. Second, an adaptive weight adjustment method is used to solve MaOPs with complex Pareto optimal front. Subsystem space obtains a non-dominated solution by a new selection strategy. The experimental results show that the algorithm is superior to other new algorithms in terms of convergence and diversity in DTLZ benchmark problems. Finally, the algorithm is used to solve the problem of NC (numerical control machine, NC) cutting parameters, and the final optimization result is obtained by AHP (Analytic Hierarchy Process, AHP) method. The results show that the cutting speed is 10.8m/min, back cutting depth is 0.13mm, the cutting time is 504s and the cutting cost is 22.15yuan. The proposed algorithm can effectively solve the practical optimization problem.

Progress of clinical and genetic research on distal hereditary motor neuropathy / 中华医学遗传学杂志

Distal hereditary motor neuropathy (dHMN) is a group of clinically and genetically heterogeneous disorders characterized by progressive distal weakness and atrophy. The onset of dHMN is at mid-adulthood or early childhood, and the symptoms are mainly present in the lower limbs. Besides weakness and atrophy of distal limb muscles, some patients may develop bulbar paralysis, and some may also present with mild sensory disturbance. Decreased or absent tendon reflexes may be discovered. Electromyography may show neurogenic damages. Muscular biopsy may reveal neurogenic amyotrophy. An increasing number of genes have been associated with dHMN. Pathogenesis of dHMN may include formation of protein aggregates, impairment of autophagy pathway, RNA processing, translation synthesis, axonal transport, endoplasmic reticulum stress, calcium channel and neuroprotection. A review for recent progress made on clinical characterization and molecular genetics of dHMN is provided.

Progress of clinical and genetic research on distal hereditary motor neuropathy / 中华医学遗传学杂志

Distal hereditary motor neuropathy (dHMN) is a group of clinically and genetically heterogeneous disorders characterized by progressive distal weakness and atrophy. The onset of dHMN is at mid-adulthood or early childhood, and the symptoms are mainly present in the lower limbs. Besides weakness and atrophy of distal limb muscles, some patients may develop bulbar paralysis, and some may also present with mild sensory disturbance. Decreased or absent tendon reflexes may be discovered. Electromyography may show neurogenic damages. Muscular biopsy may reveal neurogenic amyotrophy. An increasing number of genes have been associated with dHMN. Pathogenesis of dHMN may include formation of protein aggregates, impairment of autophagy pathway, RNA processing, translation synthesis, axonal transport, endoplasmic reticulum stress, calcium channel and neuroprotection. A review for recent progress made on clinical characterization and molecular genetics of dHMN is provided.

The effectiveness of wechat-based transitional care in patients with Myasthenia gravis / 中国实用护理杂志

Objective To evaluate the effectiveness of wechat-based transitional care in patients with Myasthenia gravis. Methods Choose 60 patients with Myasthenia gravis from August 2013 to August 2014 were divided into two groups,30 cases in each group.The patients in the two groups recevied routine dischared education.In addition,the patients in the experimental group received wechat-based transitional care for three months. The patients, anxiety, depression, self-care and health behavior at 3 months after discharge were compared between the two groups. Results There was no statistical significance between the experimental group and the control group in anxiety, depression, self-care ability and health behavior scale (P > 0.05). In the experimental group, the SAS evaluation results of normal, mild anxiety, moderate anxiety, severe anxiety respectively is 8、19、2、1. However, in the control group the result is 3、15、8、4 respectively. There was statistically difference (χ2=2.732, P < 0.01). In the experimental group, the SDS evaluation results of normal, mild depression, moderate depression, major depression respectively is 9、15、5、11. However, in the control group the result is 3、13、8、6 respectively. There was significant difference (χ2=2.626, P<0.01). Patients self-care ability and health behavior scale assessment results in the experimental group is (134.2±14.1)、(151.9±14.3) respectively and the results in the control group is (123.3±18.8)、(142.8±17.5) respectively. There was a statistically significant difference (t=2.541、2.294, P < 0.05). Conlusion Wechat-based transitional care acieves good effectiveness in patients with Myasthenia gravis and is worthy of promotion.

Applications of ZFN, TALEN and CRISPR/Cas9 techniques in disease modeling and gene therapy / 中华医学遗传学杂志

Precise and effective modification of complex genomes at the predicted loci has long been an important goal for scientists. However, conventional techniques for manipulating genomes in diverse organisms and cells have lagged behind the rapid advance in genomic studies. Such genome engineering tools have featured low efficiency and off-targeting. The newly developed custom-designed nucleases, zinc finger nucleases (ZFN), transcription activator-like effector nucleases (TALEN) and clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) system have conferred genome modification with ease of customization, flexibility and high efficiency, which may impact biological research and studies on pathogenesis of human diseases. These novel techniques can edit the genomic DNA with high efficiency and specificity in a rich variety of organisms and cell types including the induced pluripotent stem cells (iPSCs), which has conferred them with the potential for revealing the pathogenesis and treatment of many human diseases. This review has briefly introduced the mechanisms of ZFN, TALENs and CRISPR/Cas9 system, and compared the efficiency and specificity of such approaches. In addition, the application of ZFN, TALENs and CRISPR/Cas9 mediated genome modification for human disease modeling and gene therapy was also discussed.

miR-150 is a factor of survival in prostate cancer patients.

PURPOSE: Prostate cancer (PC) is the most common malignant disease in males and the second leading cause of cancer related deaths in men in developed countries. The purpose of this study was to investigate whether microRNA (miR)-150 is a factor influencing survival in prostate cancer patients. METHODS: miR-150 mRNA and protein expression levels in prostatic cancer cell lines and healthy tissues were determined by quantitative (q) RT-PCR and Western blotting. Additionally, the protein expression of miR-150 was detected by immunohistochemistry. RESULTS: High miR-150 expression was positively correlated with tumor recurrence or metastasis (p=0.010). In addition, PC patients with high miR-150 expression had significantly poorer overall survival/OR (hazard ratio/HR, 1.87; 95% confidence interval/CI, 1.19-2.94; p=0.006) and poorer disease-free survival/DFS (HR, 1.90; 95% CI, 1.21- 2.98; p=0.005) than those with low miR-150 expression. The cumulative 5-year OS was only 35.19% (95% CI, 26.18- 44.20) in the high miR-150 expression group, whereas it was 55.93% (95% CI, 43.26-68.60) in the low miR-150 expression group (p<0.05). Multivariate Cox regression analysis demonstrated that the expression of miR-150, tumor size, and number of tumor lesions were independent prognostic predictors for OS in PC patients. CONCLUSION: miR-150 was overexpressed in PC at both the mRNA and protein levels, and high expression of miR-150 could serve as a novel and reliable prognostic biomarker for PC patients.

Laparoscope microwave ablation therapy for liver cancer / 中国医师进修杂志

Objective To investigate the clinical effect of laparoscope microwave ablation therapy for liver cancer.Methods Twenty-four special sites (at least 1 lesion close to diaphragmatic muscle,gallbladder,stomach,colon and big lacuna exterior and interior of liver) of primary liver cancer patients (32 nodes) were selected,and the patients were treated with laparoscope microwave ablation therapy.The rate of complete remission after treatment,the level of alpha-fetoprotein (AFP) before and after treatment,postoperative complication and follow-up condition were observed.Results All the patients successfully completed the operation.The rate of complete remission after treatment was 87.50％ (28/32).Six patients had fever,8 patients had pain,and 2 patients had pleural effusion,and no patient had serious complication such as postoperative bleeding,biliary fistula or gastrointestinal perforation,etc.Five patients showed recurrence at 2,3,3,7 and 9 months after treatment,1 patient was treated with radio frequency ablation,1 patient was treated with microwave ablation again,2 patients were treated with γ knife,1 patient was treated with conservative method and then died of liver failure.The patients without recurrence were disease-free survival.Conclusions Laparoscope microwave ablation therapy has the advantages of laparoscope and microwave ablation.It is safe and feasible,with few trauma and outstanding curative effect,especially for the liver cancer in special site.

Diagnosis and treatment of pancreatic carcinoma with the first symptom of acute and chronic pancreatitis / 中华消化外科杂志

Objective To investigate the diagnosis and treatment of pancreatic carcinoma with acute and chronic pancreatitis as the initial symptoms.Methods The clinical data of 13 patients with pancreatic carcinoma who were admitted to the First Affiliated Hospital of Dalian Medical University and the Affiliated Central Hospital of Dalian Medical University from January 2003 to June 2014 were retrospectively analyzed.The first symptoms were acute and chronic pancreatitis.Laboratory and imaging examinations were carried out on all the patients,and the treatment plan was designed according to the location and stage of the tumor as well as the patient's wishes.Surgery,radiotherapy,chemotherapy and other symptomatic treatment were selected.All the patients were followed up by telephone interview till July 2014.Results The major symptoms included abdominal pain and lumbodorsal pain (7 patients).Of the 13 patients,1 patient refused to received laboratory examination,and the levels of CA19-9 of the other 12 patients were elevated (the levels of CA19-9 of 11 patients were above 1 × 105 U/L).The levels of carcinoembryonic antigen (CEA) of 5 patients were elevated.Thirteen patients received plain or enhanced abdominal computed tomography (CT),3 received magnetic resonance imaging (MRI) and 3 received sonography.The tumors located at the head of the pancreas wcrc observed in 9 patients,tumors located at the neck of the pancreas was observed in 2 patients,and tumors located at the tail of the pancreas were observed in 2 patients.The sizes of the tumors ranged between 1.7 cm × 1.7 cm and 4.9 cm × 4.8 cm.The common bile duct,intrahepatic bile duct and pancreatic duct of 7 patients were dilated.The superior mesenteric vein of 3 patients were invaded by the tumor.The lymph nodes of 4 patients were swollen,and 3 patients had peritoneal effusion.The results of CT confirmed that 2 patients were with cholecystolithiasis,and the results of magnetic retrograde cholangiopancreatography (MRCP) confirmed that 1 patient had choledocholithiasis.The size of he pancreas of all the patients were increased using ultrasonography,and the main pancreatic ducts of 2 patients were dilated.Ten patients were diagnosed as with advanced pancreatic carcinoma.All the patients were staged by the imaging findings,5 patients belonged to stage Ⅱ and 8 belonged to stage Ⅳ.Two patients underwent pancreaticoduodenectomy,and 1 of them underwent postoperative radiotherapy and chemotherapy,and the other patient underwent palliative biliary enteric anastomosis and gastrojejunostomy.Two patients were treated by chemotherapy and 1 by radiotherapy in the 10 patients who did not received surgery.The rest 7 patients were treated with symptomatic therapy.The pathological results of the 2 patients who underwent pancreaticoduodenectomy were both moderately and poor-differentiated adenocarcinoma,and the size of the tumors were 4.0 cm × 3.0 cm × 2.5 cm and 2.5 cm × 2.0 cm × 1.0 cm.Three patients lost to follow-up among the 13 patients.The survival time of the patients with acute pancreatitis as the initial symptom ranged from 2.0 months to 6.0 months,and the median survival time was 4.5 months.The survival time of the patients with chronic pancreatitis as the initial symptom ranged from 0.5 months to 10.0 months,and the median survival time was 3.0 months.The median survival time of the 4 patients with elevated level of CEA was 3.5 months,and the median time of the 5 patients with normal level of CEA was 5.4 months.All the 10 patients who were followed up died of tumor recurrence and metastasis.Conclusion The clinical presentation of patients with acute and chronic pancreatitis as the initial symptoms is atypical,and it is difficult to achieve early diagnosis.Dynamic monitoring and combined diagnosis with laboratory and imaging examinations will improve the accuracy of diagnosis.Surgery based treatment is the preferred option.

Pseudoenhancement of renal cyst study of multiple phases of contrast enhancement with multi-slice CT / 中华放射学杂志

Objective To evaluate the rules and features of the pseudoenhancement phenomenon of renal cysts during the multi-phases of contrast enhanced MSCT scan.Methods Ninety one patients with 112 simple renal cysts with B-ultrasound,CT examination,improved clinically enrolled in this retrospective study.The attenuation of the renal cysts were measured blindly in the images of CT plain scan and scans of arterial,venal and secrete phases,and the attenuation change of the cysts between pre-and post-enhanced scans were calculated; the accuracies of pseudoenhancement judging were calculated with 10 HU,15 HU and 18 HU as a threshold;the size were recorded; degree of intra renal parenchyma of the cyst were also confirmed,and so renal cysts were divided into three groups:type Ⅰ,Ⅱ and Ⅲ; The differences of attenuation among 3 enhancement phases,different size,different type were analyzed statistically with the Kruskal-wallis rank sum test,the correlation between the diameter and the pseudoenhancement in each enhancement phases were analyzed statistically with Spearman test.Results The attenuation median of the 112 cysts in plain scan,arterial,venal and secrete phase was 6.0 HU,11.0 HU,12.0 HU and 12.0 HU respectively,there was significant difference(x2=53.32,P＜0.01).The attenuation of the cysts in enhanced phases was higher than unenhanced.The range of attenuation change of the cysts between pre-and postenhanced scans was-10 to 31 HU,the number of cysts in groups of pseudoenhancement of 1 to 5 HU and 6 to 10 HU in each enhanced phase was dominant.The pseudoenhancement median of arterial,venal and secrete phase was 4.0 HU,5.0 HU and 6.0 HU respectively,There was significant difference among three groups(x2=10.062,P＜0.01).Taking 10 HU,15 HU and 18 HU as threshold for judging pseudoenhancement,the accuracy was 83.0％(239/288),95.1％(274/288) and 96.9％(279/288) respectively; Pseudoenhancement of small cysts(≤10 mm) was higher than other groups in each enhancement phase,and there was significant difference(P＜0.05).Type Ⅰ,Ⅱ and Ⅲ renal cysts were 62,23 and 27 respectively,the pseudoenhancement median of type Ⅰ renal cyst was 5.0 HU,6.0 HU and 8.0 HU respectively in arterial,venous,and excretion phase,which were higher than Type Ⅱ and Ⅲ (P＜0.05).It showed low negative correlation between pseudoenhancemen and diameter in arterial,venous and secrete phase(r =-0.326,-0.332 and-0.447,P＜ 0.01).Conclusion The pseudoenhancement correlated with the renal cyst size,the type and the enhance phases,which should be considered when making diagnosis.

Construction and expression of eukaryotic expression vector pcDNA3-ICOSIg / 中国组织工程研究

BACKGROUND:So far, inducible co-stimulator is the important costimulatory molecule family member. Inducible co-stimulator can promote the activation of T cel s proliferation and secretion, regulate Th1/Th2 cel polarization dependence, enhance B cel function which depend on the T cel s. So, blocking the inducible co-stimulator may result the inactivation and no reaction of cloning in T cel s, thus inducing the immune escape of tumor on the body. OBJECTIVE:To build a plasmid expression of inducible co-stimulator Ig, in order to observe the expression in rat body. METHODS:cDNA encoding the extracel ular domain of human inducible co-stimulator was prepared. The encode of the domain was fused with the gene of immunoglobulin IgG constant fragment (Ig) of encoding mouse, in order to build the inducible co-stimulator Ig fusion gene and the secreted eukaryotic expression vector pcDNA3-inducible co-stimulator Ig. Enzyme digestion of the recombinant and sequencing was performed, and then the positive liposome coated pcDNA3-inducible co-stimulator Ig was transferred into the muscle tissue of mouse right thigh. Western blot was used to detect the level of inducible co-stimulator Ig. RESULTS AND CONCLUSION:The sequencing confirmed that the size of target gene fragment pcDNA3-inducible co-stimulator Ig plasmid was exactly the same with the sequence of inducible co-stimulator published on Genebank, which indicated the successful of plasmid construction. After transferred into the mouse for 7 days, the liposome coated pcDNA3-inducible co-stimulator Ig was positively expressed in the mice serum, which showed that pcDNA3-inducible co-stimulator Ig could be expressed in the rat muscle cel s. The results suggest that gene synthesis and recombinant technology can successful y construct the eukaryotic expression vector pcDNA3-inducible co-stimulator Ig.

Costimulatory blockade with anti-inducible costimulator antibody in combination with CTLA4Ig on prevention of islet allograft rejection / 中华器官移植杂志

Objective To study the effects of costimulatory blockade with anti-inducible costim- ulator antibody(ICOS mAb)in combination with CTLA4Ig on prevention of islet allograft rejection. Methods Experimental animals were randomly divided into 4 groups(10 rats in each group).CT- LA4Ig + ICOS mAb group(group A):intraperitoneal injection of CTLA4Ig on day 0,2,4 and ICOS mAb on day 1,3,5 after islet transplantation;ICOSmAb group(group B):intraperitoneal injection of ICOS mAb on day 1,3,5 after islet transplantation;CTLA4Ig group(group C):intraperitoneal injection of CTLA4Ig on day 0,2,4 after islet transplantation;control group(group D):simple islet transplantation.The islet allograft survival and pathological changes in the transplanted islets after transplantation were observed.By using RT-PCR,the expression of IL-2 and IL-10 mRNA in the transplanted islets was detected.The expression of CD4~+ and CD8~+ T cell was detected by flow cy- tometry.Results In group A,the survival time was obviously prolonged as compared with other three groups and the transplanted islets were near normal under a light microscope.As compared with other three groups,the expression of IL-2 mRNA was significantly decreased in group A(P0.05).The expression of CD4~+ and CD8~+ T cell was not obviously up-regulated on the day 21 after transplantation.Conclusion The blockade of costimulatory signals with ICOS mAb in combination with CTLA4Ig has a favorable effects to restrain the rejection of islet transplantation.

Blocking the chemokine receptor pathway attenuates acute rejection after islet transplantation / 中华器官移植杂志

Objective To investigate the effects of chemokine antagonist,Met-RANTES,on the acute rejection of islet allograft in the rat model.Methods According to the different treatments,rats were divided into 2 group: control group,allogeneic islet transplant untreated;experiment group,allogeneic islet transplant treated with Met-RANTES(200 ?g/day, i.p) for 7 days post-operation.The survival time of rat of islet transplant and blood sugar were recorded,and the pathological changes of islet allograft were observed.Scintillation counter was used to count the count per min(cpm) of monocytes.Flow cytometry was used to detect the ratio of CD4~+/CD8~+ phenotypes and CCR5 expression of peripheral blood lymphocytes.Results The mean survival time of islet allograft in experiment group was(23.0)?(10.5) days,obviously longer than in the control group((3.8)?(4.5) days,P

Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.</p><p><b>METHODS</b>Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.</p><p><b>RESULTS</b>In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.</p><p><b>CONCLUSION</b>Mutation of NF-L gene may be rare in Chinese CMT patients.</p>

A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report a Chinese Charcot-Marie-Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation.</p><p><b>METHODS</b>All family members were studied through clinical examinations, out of them, the proband was subjected to electromyography and BAEPs examination. Mutation analysis of Cx32 was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in the proband, 8 family members and 50 unrelated normal individuals.</p><p><b>RESULTS</b>The proband had highly decreased nerve conduction velocities and delayed BAEPs. Leu131Pro mutation was found in the proband and 3 family members, not found in 50 normal controls.</p><p><b>CONCLUSION</b>This mutation has not been reported previously. Central nervous system can be affected in CMT patients.</p>

Mutation analysis of atlastin gene in patients with hereditary spastic paraplegia / 临床神经病学杂志

Objective To investigate the mutation characteristics of atlastin gene in Chinese patients with hereditary spastic paraplegia(HSP) and establish the base of gene diagnosis of HSP.Methods Mutation analysis of atlastin gene was made by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing in 30 unrelated affected HSP individuals in China in which 20 cases were from autosomal dominant families and ten cases were sporadic HSP patients.Results No abnormal SSCP bands were found in the 30 individuals and the results of DNA direct sequencing were also normal.Conclusion Mutation of atlastin gene may be rare in Chinese HSP patients.

Clinical characteristics of hereditary spastic paraplegia with thin corpus callosum / 临床神经病学杂志

Objective To explore the clinical characteristics of hereditary spastic paraplegia with thin corpus callosum(HSP TCC).Methods Clinical data of 4 patients with HSP TCC were analysed retrospectively.Results 4 patients were at the onset during youngsters,they revealed mental impairment,walk of spasticity,spasticity of the lower extremities,slowly progressive weakness and hyperreflexia, extensor plantar responses and morbid indication for positive. Sensory impairment was not observed. 2 cases showed ataxia and sphincter disturbance;1 case showed upper limb spasticity and muscular atrophy. Cranial MRI revealed an extremely thin corpus callosum on sagittal image.Conclusion Main clinical characterizations of HSP TCC were slowly progressive spastic paraparesis, mental impairment during youngsters, cranial MRI showed extremely thin corpus callosum.