Objective To explore the clinical features of a family with myotonic dystrophy type 1 (DM1) in order to improve the knowledge of this disease.Methods Clinical data of members from the family were collected.Electrocardiogram (ECG),electromyogram (EMG) and blood biochemistry were performed in some members of the family.Characteristics of pathology and gene of the propositi were detected.Results Anticipation was found in the family which was verified as DM1.In the all 19 patients,17 had myasthenia gravis,14 had muscle atrophy,16 had myotonia,5 had complicated with cataract,and 7 had complicated with hypophrenia.The 5 patients accepted ECG all had abnormal results,3 of them had myotonic discharge and metabolic abnormalities.Pathological analysis showed the main fibers atrophy was type Ⅰ,and the protein dystrophin expression was completely in the propositi.Conclusions The clinical manifestations of patients are various.DM1 affects eye (the lens),heart (mainly the conduction system),reproductive system besides skeletal muscle.Necessary auxiliary examinations and regular follow-up should be performed to evaluate and deal with multisystemic involvement in DM1 patients.EMG and pathological results are helpful in the diagnosis.Gene analysis can verify the disease and identify subclinical patients.

Objective To compare the clinical effects of three different methods (temporalis restoration or not) used in standard kull defect repairs after standard decompressive craniectomy.Methods Seventy-one patients with kull defects were chosen in our study; 31 of them,admitted to our hospital from January 2012 to December 2013,adopted repairs by temporalis restoration+digital titanium mesh shaping technology (group A); 21 of them,admitted to our hospital from January 2010 to December 2011,adopted repairs under temporalis+digital titanium mesh shaping technology (group B); and 19 of them,admitted to our hospital from June 2008 to December 2009,adopted repairs outside temporalis+digital titanium mesh shaping technology (group C).The operation time,blood loss,postoperative complications and subjective symptoms such as poor comfort adverse reactions in the three groups were compared.Results The mean operation time:group A was (80±10.15) min,group B (76± 9.25) min and group C (72±11.5) min,without significant differences (P＞0.05); average amount of bleeding:group A was (75±9) mL,group B (70±11) mL and group C (68±8) mL,without significant differences (P＞0.05).Adverse reactions were noted in 6 patients of group A (13 [68.42％] complained uncomfortable conditions),7 of group B (7 [33.3％] complained uncomfortable conditions) and 3 of group C (4 [12.9％] complained uncomfortable conditions),with statistically significant differences (P＜0.05).Conclusion Skull repairs bv temporalis restoration+digital titanium mesh shaping technology,being more similar to the physical structure of the patients,enjoy higher postoperative patient satisfaction,more satisfactory functional recovery,and lower rate of adverse reactions,and had better effect than the other two methods.

Objective To analyze the high-risk factors of epilepsy relapse through observing the replapse one year after drug withdraw in epileptic patients with single antiepileptic drug (AED) treatment who had no clinic attack for 3 years.Methods One hundred and two epileptic patients,had no clinic attack for 3 years,and no epileptic discharges or discharges less than 5 times in their 24-hours video electroencephalogram (VEEG) before single AED withdrawal,were chosen in our study from January 2006 to June 2014; follow up was performed on these patients until epilepsy relapse or at least one year for those without relapse.Their age,gender,epileptic discharges in VEEG before withdrawal,epileptic forms,types,frequencies,degrees and classifies,etiology,encephalic epileptic focus,initiate treatment time and AED kinds were analyzed.Results Finally,77 patients were selected and 27 (35.1％) relapsed within one year of AEDs withdrawal.Relapse was connected with multiple epileptic forms,initiate treatment times,frequencies,and encephalic epileptic focus (P＜0.05); there were no obvious precipitating factors for 40.7％ patients; the others were connected with unhealthy living habits,infections,rage or passion.Conclusion High-risk factors for relapse exist after single ADE withdrawal; determination of these factors can help to prevent epilepsy relapse.

Objective To explore the microRNA-16 (miR-16) and nuclear-transcription factor-κB1 (NF-κB1) expressions in human brain gliomas and their correlations with cell invasion and growth of malignant gliomas SHG44,U87 and U373.Methods (1) Twenty-nine cases of human glioma tissue samples and 6 normal brain tissues,collected in our hospital from January 2000 to January 2011,were chosen in our study; quantitative real-time polymerase chain reaction (qRT-PCR) was used to determine the expressions ofmiR-16 and NF-κB1 in these tissues.(2) In vitro cultured U87,U373 and SHG44 cells were divided into blank-control group,nonsense sequence transfected group and miR-16 mimics transfected group; 48 h after the transfection,qRT-PCR was used to detect the expressions of miR-16 and NF-κB1; tmnswell assay was used to observe the cell invasion capability; 72 h after the transfection,Western blotting was employed to detect the protein expressions of NF-κB1,matrix metallopeptidase 9 (MMP-9) and MMP-2.(3) Luciferase reporter assay was used to detect the target regulating role of miR-16 in NF-κB1 gene.(4) U87 cells were used as negative control group,and U87 cells carried stably expressed miR-16 gene were implanted into intracranial and subcutaneous nude mice (U87-miR-16 group); immunofluorescence was used to detect the MMP-9 expression,and immunohistochemical staining was used to detect the protein expressions of Ki-67,NF-κ B1 and MMP-9; subcutaneous tumor volume was measured and the growth curve was drawn.Results (1) The qPCR results showed that the expression of miR-16 in human brain glioma tissues was significantly lower than that in normal brain tissues; and gradually decreased miR-16 expressions were noted in gliomas of graded Ⅰ,Ⅱ,Ⅲ and Ⅳ (P＜0.05); NF-κB1 expression in human brain glioma tissues was significantly higher than that in normal brain tissues; and gradually increased NF-κB1 expressions were noted in gliomas of graded Ⅰ,Ⅱ,Ⅲ and Ⅳ (P＜0.05).(2) As compared with those in the blank-control group and nonsense sequence transfected group,miR-16 mimics transfected group had significantly increased miR-16 expression,decreased NF-κB1 mRNA expression,decreased invasiveness,and decreased protein expressions of NF-κB1 and MMP-9 (P＜0.05).(3) Luciferase reporter assay showed that the fluorescence normalized ratio in the pMIR-NF-κB1 group was signfcaintly higher than that in the pMIR-NF-κB1+pre-miR-16 group (P＜0.05).(4) As compared with the negative control group,the U87-miR-16 group on the 24-42 d of implantation had significantly smaller volume of tumors (P＜0.05),and lower MMP9 expression,and NF-κB1,MMP-9 and Ki-67 expressions (the proliferation index of Ki-67:13.91％ and 32.98％).Conclusion MiR-16 inhibits glioma cell invasion and growth through down-mgulating NF-κB1 and MMP-9 expressions.

Objective To study the effect of vagus nerve stimulation (VNS) on the expression of multidrug resistance-associated protein (MRP1) in brains of rats with drug refractory epilepsy.Methods Rat models based on the lithium-pilocarpine epileptic rats were induced with sodium phenobarbital (PB).Then,the rats were randomly divided into three groups:VNS group (n=7),sham-VNS group (n=6) and control group (n=6); VNS through stimulation device was given to the rats in the VNS group,stimulation device without VNS was given to the rats in the sham-VNS group,and rats in the control group were only given conventional feeding.Behavioral changes and number of seizures were recorded by continuous video monitoring during the whole process.And the amount of MRP1 over-expression in each group was detected following a four-week VNS.Results (1) The seizure frequency in VNS group (2.6±1.0 per week) was significantly decreased as compared with that in sham-VNS group (5.3±1.1 per week) or control group (5.2±1.3 per week) after a four-week VNS (P＜0.05).(2) The MRP1 expression in VNS group had significantly statistical differences as compared with that in the sham-VNS group and control group (the absorbance values:9120±1496,19556±1462 and 20231±1710,P＜0.05).Conclusion VNS can effectively decrease the seizures frequency through reducing the MRP1 over-expression.

Objective To study the acute effect of vagus nerve stimulation (VNS) on status epilepticus (SE) in rats.Methods Forty-eight male Wistar rats were randomly divided into 4 groups:Group A (VNS preconditioning group),accepted VNS at 2 h before pilocarpine injection,Group B (VNS treatment group),accepted VNS immediately after pilocarpine injection,Group C (negative control group),implanted with electrode without stimulation,and Group D (SE model group),without electrode implantation (n=1 2).Lithium-pilocarpine was used to kindle the rats to establish SE models.Stimulation parameters used in the procedure of VNS were as follows:frequency,30 Hz; pulse width,0.5 ms; current,1 mA; and duty cycle,on-30 s,off-30 s.Behavior changes were observed and caspase-3 expression in dentate gyrus was detected 72 h after pilocarpine injection.Results (1) The seizure frequencies of grade Ⅳ and Ⅴ (Racine grading) in group A and B were significantly fewer than those in group C and D (P＜0.05); the seizure frequency of grade Ⅴ in group A was significantly fewer than that of group B (P＜0.05); SE latency in group A was significantly longer than that in other groups (P＜0.05).(2) Expressions of caspase-3 in the dentate gyrus of group A and B were significantly lower than those of group C and D (absorbancy values being 5854.7±856.5,6244.8±806.0,11957.0±1948.1 and 11543.2±1734.7,P＜0.05).Conclusion VNS has an acute seizure-suppressing effect on SE in rats and it can also reduce neuronal apoptosis induced by SE in hipocampus.