Objective: To study the effect of simulating scene method in teaching neurology.Method:Simulating scene method in teaching neurology of noviciate,the student and teacher joint evaluation and comparison with controlled group were applied.Results: According to students' evaluation,simulating scene method can improved students' leaning interest,clinical performing skill and clinical thinking,which had significant difference compared with that of controlled group.According to teachers'evaluation,simulating scene method could improve students'leaning attitude and elevate the clinical performing mark,which was also significantly different compared with controlled group.Conclusions:Simulating scene method can improved students' clinical performing skill and teaching effect.

Objective To establish a fast and effective gene diagnosis method for Wilson's disease(WD) patients by double PCR-SSCP technology.Methods We amplificated exon8 and exon12 of ATP7B gene by double PCR from genomic DNA of 140 unrelated WD patients and 30 normal controls,then used SSCP technology to screen them.At last we identificated these patients' mutation features by direct sequencing.Results No abnormality shift was found in 30 controls.In 140 patients,we found 7 types of abnormal mobility shifts in 66 cases(47.14%).In subsequent direct sequencing,mutation rate of Arg778Leu/Gln was 37.14%(52/140),and Thr935Met was 12.86%(18/140).Conclusion Double PCR-SSCP diagnosis technology is a effective method which can improve diagnosis rate for Wilson disease.

Objective To develop a convenient, rapid and specific method using real-time fluorescent quantitative polymerase chain reaction (FQ-PCR) for detection of facioscapulohumeral muscular dystrophy(FSHD). Methods Genomic DNA was extracted and digested by restricted endonuclease EcoR Ⅰ , followed by agarose electrophoresis. The DNA (< 38 kb) was retrieved from agarose electrophoretic gels. The primers and probe were designed in D4ZA gene in chromosome 4. One hundred and fifteen subjects were examined by FQ-PCR using the retrieved DNA (<38 kb) as a template and the result was analyzed by fluorescent curve comparing with positive control. Results The results by FQ-PCR showed that 13 cases were positive in 16 FSHD cases whose EcoR Ⅰ fragment sizes were known, 75 cases were negative in 78 cases of normal controls, 15 cases were positive in 16 FSHD cases diagnosed clinically whose EcoR Ⅰ fragment sizes were unknown, and 3 cases were positive in 5 cases of relatives of FSHD patients. Consistency was checked using Kappa index between the 2 gene diagnostic tests for FSHD (FQ-PCR test and the traditional Southern blotting test), and between the 2 diagnostic criterions (gene diagnosis by FQ-PCR and clinical diagnosis). The results were statistically significant (κ = 0. 765, P = 0. 002 ; κ = 0. 844, P = 0. 000). Conclusions A new genetic diagnostic method of FSHD by FQ-PCR was developed, which was more simplified and reliable compared to the time-consuming, radioactive Southern blotting. It could also detect the D4Z4 arrays in cases having deletion of p13E-11 as well as the interchromosomal exchange between 4q35 and 10q26. The new method of FQ-PCR for FSHD may be extended to utilize clinically in future.

Objective To investigate the role of activities of sympathetic nerve in the pathogenesis of shoulder-hand syndrome (SHS) by analyzing the hand sympathetic skin response (SSR) at the acute stage of SHS after stroke. Methods 50 stroke patients with SHS at the acute stage were assigned as SHS group, another 50 stroke patients without SHS as control group (N-SHS group) and 50 health volunteers as health group. Every patient was subjected to the detection of bilateral hand SSR. Results The detection rates of SSR in the SHS group and N-SHS group were significantly lower than that in the Health group (P<0.01). In comparison within the SHS group, the amplitude of SSR on the affected hand was apparently higher than on the healthy hand (P < 0.05), but there was no significant difference in the SSR latencies in both hands ( P > 0 . 05 ) . In comparison with the health group , bilateral SSR latencies of the SHS group were longer than those of the health group (P<0.05) and bilateral SSR amplitudes were all lower than those of the health group (P<0.01). Conclusions The bilateral hand sympathetic skin responses could change at the acute stage of SHS after stroke, with possible presentations of central inhibition of sympathetic activity. The abnormality of SSR may be an early warning indicator in patients with hemiplegia after stroke complicated with SHS.

stroke, shoulder-hand syndrome, median nerve

The diagnosis of post-stroke cognitive impairment (PSCI) mainly depends on clinical manifestation and scale assessment now, but lacks specificity. Studies in recent years have shown that there are biomarkers closely related to PSCI. This article reviews the blood biomarkers of PSCI.

OBJECTIVETo observe the clinical manifestation of 155 patients with hepatolenticular degeneration (HLD) complicated with epilepsy and the therapeutic effect of integrative Chinese and Western medicine treatment on them.

METHODSClinical manifestation of patients and its relationship with abnormalities in cranial CT and/or MRI were observed. Patients were treated by combined treatment of copper repellent with sodium dimercaptosulfonate 20 mg/kg per day by intravenous dripping, and modified Gandou Decoction (GDD) by oral intake and antiepileptics as well, after treatment for 8-10 courses, the clinical effect, copper levels in urine and serum were compared between groups.

RESULTSIn the 155 HLD patients, 96 were complicated with petit mal and 59 with grand mal. In the CT and/or MRI conducted in 72 patients, all showed abnormal images, besides such frequently met images as bilateral symmetrical basal ganglia focal lesion in 65 case-episode (90.3%) and brain atrophy of various degrees in 61 case-episode (84.7%), the massive lesions in cerebral white matter as principal, with the cortex involved, were also found in 54 patients (74%), which were mostly bilateral and symmetric or located in 2 adjecent lobes of brain, the sites of damage, in sequence of occurrence, were frontal lobe, parietal lobe, temporal lobe and callosal gyrus. Brain atrophy was found in all the remained patients without above-mentioned lesions. Abnormal EEG was shown in 29 patients (40.2%), which mainly manifested as theta wave of moderate to high potential and/or short paroxysmal spike-slow or sharp-slow complex wave evoked. The urinary copper level in patients after treatment was 34.5 +/- 21.6 micromol/24 hrs, significantly higher than that before treatment, 4.49 +/- 1.93 micromol/24 hrs (P < 0.01). And the serum copper level in patients also lowered significantly (P< 0.01). Epileptic seizure was controlled completely along with the gradually improving of extrapyramidal symptoms.

CONCLUSIONPartial seizure was the most common type of seizure of HLD patient complicated with epilepsy, the next is systemic seizure. Cerebral damage lesion and obvious brain atrophy could be the main etiological factors of HLD complicated with epilepsy, combined copper repellent therapy of integrative Chinese and Western medicine, and antiepileptics produced good clinical effect on the patients.

Adolescent ; Adult ; Anticonvulsants ; therapeutic use ; Chelating Agents ; therapeutic use ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Epilepsy ; complications ; drug therapy ; Female ; Hepatolenticular Degeneration ; complications ; drug therapy ; Humans ; Male ; Phytotherapy ; Unithiol ; therapeutic use

A retrospective analysis was performed on one case of adult-onset type Ⅱcitrullinemia(CTLN2)caused by homozygous mutations of SLC25A13 genes.The patient,a 28-year-old male,had repeated limb convulsions for more than 4 years and worsened for 2 months.He usually liked to eat peanuts and meat.The brain MRI examination showed no abnormality,and anti-epileptic treatment was not effective.Further examination of blood aminotransferase,blood ammonia and citrulline were elevated,genetic testing showed that the SLC25A13 gene c.851_854del homozygous pathogenic mutation,the diagnosis was CTLN2,and the treatment was treated with a high-protein,high-fat,low-sugar diet and arginine,and there were no seizures followed up for half a year.Patients with recurrent seizures with special dietary preferences should be paid attention to the possibility of CTLN2,and genetic testing plays an important role in the diagnosis of CTLN2 and provides a basis for clinical diagnosis and treatment.

Objective To investigate the relationship among blink reflex, facial nerve electroneurography and functional lesion at the early stage of Bell's palsy. Methods Blink reflex and electroneurography of facial nerve were performed in 25 patients with early Bell's palsy.They were divided into mild to moderate damage and severe damage according to the result. They were evaluated by House-Blackmann (H-B) scale and were identified: grade I, normal; grade II-III, mild-moderate facial paralysis; grade IV-VI, severe facial paralysis. Results The positive rate of blink reflex was 100%, with the proportion of mild- moderate damage was 28% and severe damage was 72%. H-B scale evaluation showed the percentage of mild-moderate facial paralysis was 44%, severe facial paralysis was 56%, which was consistent with blink reflex (P>0.05). The positive rate of electroneurography was 52%, with the proportion of mild- moderate damage was 44% and severe damage was 8%, which was inconsistent with H-B scale evaluation (P<0.05). Conclusion Blink reflex is preferable to electroneurography in evaluating facial paralysis degree at the early stage of Bell's palsy.