Objective To identify mutations of CACNA1A gene in a family with hemiplegic migraine.Methods Total genomic DNA was extracted from a family with 3 affected members and 1 000 healthy controls.The proband and his patient sister were subjected to exome sequencing.Ten family members including 3 patients were subjected to linkage analysis.The coding exons of the CACNA1A gene were amplified and sequenced in affected and normal individuals. Bioinformatics analysis were performed.Results A novel CACNA1A mutation was identified in the 3 patients.The nonsense mutation of A to G was detected at nucleotide 1168 ( c.1168A >G) which converted the Asn codon ( AAT) to Asp (GAT) in exon 8.Conclusion The mutation(N390D) detected in the present study is considered to result in the Chinese Hemiplegic migraine family.

Objective To explore initial application of network in remote consultation system in the manage-ment of obstetrics in primary hospital.Methods Data were collected in questionnaire survey,a total of 54 hospitals in Jiangsu province were involved.The situation of remote consultation and perceive of pregnant and puerpera in primary hospital were investigated to establish an independent cyber in remote consultation system.Results The demand for remote consultation at all levels of hospital was huge(79.63%),there was no significant difference (P >0.05).Third class hospital has been widely carried out the remote medical consultation service,about 85.37% of the level II hospi-tals had not yet been carried out,which did not have the conditions accounted for 68.29%,the difference was statisti-cally significant(P <0.01).There was a significant difference between the demand and the approval degree of the pri-mary hospital in the remote consultation(P <0.01),high school or above,technical staff and urban pregnant women needed the most pressing,high degree of recognition.Conclusion The primary hospital medical personnel profession-al quality was the important factor that affected the use of remote consultation.The corresponding point,independent network creation and combined with face to face diagnosis were needed in the performance of remote consultation.Suc-cessful opening of the remote consultation system,improved the quality of the diagnosis and treatment,promoted the academic exchange between regions.It was conducive to the management of the high -risk pregnancy and should be actively promoted and applied.

Objective To study the feasibility and care mode of remote fetal monitoring at primary hospital. Methods A questionnaire survey was administered to 71 hospitals of different levels in Jiangsu province.Question-naire content included human resources status of midwifery,the remote fetal monitoring system and its clinical applica-tion;anonymous questionnaire survey was conducted to 130 maternal women by random cluster sampling;investigation of remote fetal monitoring device type,operation mode,clinical usage and existing problems was done through the doc-ument retrieval of VIP and Wanfang data platform.Results In grade Ⅱhospital,obstetricians sufficient and insuffi-cient were 10 cases (24.39%),31 cases(75.6%),respectively,and in grade Ⅲ hospital were 8 cases (61.53%), 5 cases (38.46%),respectively,there was statistically significant difference between grade Ⅱ and grade Ⅲ hospital (χ2 =4.572,P <0.05);In grade Ⅱ and grade Ⅲ hospital midwives were obviously insufficient,but there was no sta-tistically significant difference between grade Ⅱ and grade Ⅲ hospital(χ2 =0.219,P >0.05).Different cultural lev-el,place of residence,occupation of maternal demand for the development of remote fetal monitoring were urgent and higher degree of acceptance,but the cognition was not comprehensive,college degree or above,technical personnel and urban pregnant women that their need for remote fetal monitoring were the most urgent.There were significant differ-ences(all P <0.01).The use of remote fetal monitoring equipment was mostly at tertiary hospital nationwide.3G net-work way to transfer data had short time and small scope.Conclusion The existing monitoring system and service mode can not meet the requirements of the implementation of remote fetal monitoring,medical personnel professional quality and maternal comprehensive quality are the main influencing factors.The primary hospitals should actively pro-mote the application of remote fetal monitoring,maternal health care services and health education should arouse the attention of the whole society.

Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .

Aim To investigate the effects of saponins of Panax japonicus (SPJ) on high-fat diet induced reproductive dysfunction in mice and its underlying mechanisms. Methods Sperm viability and sperm count were assessed using hemocytometer and eosin Y staining under light microscope. Testicular morphology was evaluated by HE staining. Germ cell apoptosis was detected by deoxyribonucleotide terminal transferasemediated (TUNEL). The relative protein expression levels of p-NF-κB, TNF-α and IL-1β were detected by Western blot. The numbers of testicular macrophages were assessed by immunofluorescence. Results Compared with high-fat model group, SPJ significantly reduced the body mass of mice, significantly increased the weight and index of testis and epididymis, elevated sperm viability and sperm count, improved the morphology of seminiferous tubules, and reduced germ cell the apoptosis. In addition, SPJ markedly decreased the relative protein expression levels of p-NF-κB, TNF-α and IL-1β, and reduced the numbers of testicular macrophages. Conclusions SPJ significantly improves high-fat diet induced reproductive dysfunction in male mice, and its mechanism may be related to the reduction of macrophage infiltration and inhibition of NF-ΚB pathway-mediated testicular inflammation.

Objective To summarize the magnetic resonance imaging/ 1 H-magnetic resonance spectroscopy (MRI/1 H-MRS) features of tumor-like inflammatory demyelinating diseases (TIDD),and investigate the clinical value of MRI/1 H-MRS.Methods MRI features of 10 cases of TIDD in brain confirmed by pathology were retrospectively analyzed and compared with pathology.Results The lesions mainly located in the white matter with mild mass effect.MRI scan all showed low T1 high T2 signal,and 7 cases showed high signal,3 cases showed slightly high or mixed signals on DWI.Enhanced MRI showed 5 cases with significant enhancement withopen loop sign,4 cases with significant patchy or nodular enhancement,1 case with mild flakes or linear enhancement.Three cases showed expanded blood vessels and plumbed to the lateral wall inside the edge of the lesions.1H-MRS performance showed 4 cases all with significantly increased Lac and Lip; 3 cases with rised glutamate and glutamine complex β,γ-Glx peaks,reduced N-acetylaspartate acid (NAA),increased Cho to varying degrees.All pathological changes were demyelination,perivascular inflammatory infiltration and reactive gliosis,hypertrophy and abnormal mitotic figure.Seven cases could be seen obesity glial cells.Conclusions TIDD had its salient MRI features:lesion had obvious edema and mild mass effect,MRI enhancement showed open loop sign and small veins expansed,on perfusion-weighted imaging it showed low perfusion.1H-MRS showed β,γ-Glx peaks,Lac and Lip peaks significantly increased,NAA slightly reduced,Cho mildly elevated.Comprehensively analyzing the MRI and 1H-MRS features,combined with clinical manifestations,contribute to the diagnosis of the disease.

Objective To explore the effect of different scan parameters and algorithm on detection of iron deposition with coexsiting fat by dual soure CT.Methods One ml homogenate of normal rat liver tissues and 1 ml iron dextran solution with different concentrations (50.000,25.000,12.500,6.250,3.125,and 1.560 mg/ml) were fully mixed respectively.The 6 test tubes were scanned by dual source CT in the mode of dual energy to gain the iron specific slope.Different concentrations of dextran iron(50,40,30,20,10,and 5 mg/ml),triglyceride(volume percent were 60％,30％,and 10％,respectively),and homogenate of normal rat liver tissues were mixed.All 18 tubes were scanned by dual source CT with 80-140 kVp and 100-140 kVp,and all these images were reconstructed by filtered back projection (FBP) and singogram affirmed iterative reconstruction(SAFIRE).Raw data were reconstructed by filtering and iterative method.△H value (△H =CT value low kVp-CT valuehigh kVp) and overlay value of three substances decomposition algorithm were measured and analyzed by t test.The Spearmen correlation was applied in iron concentration and measured values.Results Iron specific slope was found to be 1.9392.When 80-140 kVp and 100-140 kVp were applied,△H values were (198 ± 28) and (152 ± 18) HU by using FBP reconstruction,and △H values were (191 ± 23) and (149 ± 17) HU by using SAFIRE reconstruction.The differences were statistically significant(t =-2.934 and-3.492,P =0.032 and 0.017).Overlay values were (381 ±54) and (236 ±31) HU by using FBP reconstruction,and overlay values were (399 ±53) and (276 ± 43) HU by using SAFIRE reconstruction.The differences were also statistically significant (t =-5.739 and-7.949,P =0.002 and 0.001).Under the same energy portfolio but different reconstruction,both △H and overlay value showed no differences (P ＞ 0.05).Except for the conditions with 100-140 kVp tube voltage,△H had no correlation with iron solution concentration (P ＞ 0.05) under either FBP or SAFIRE reconstruction.When other reconstruction methods and tube voltage combination were used,overlay or △H value showed correlation with iron solution concentrations (r value ranged from 0.959 to 0.997,P values ＜ 0.01).Conclusions Different energy portfolios of dual source CT will act on the measured value of iron deposition.The measured values will not be affected by ways of reconstruction.For the detection of iron coexisting in fat,overlay values of material decomposition algorithm is better.

OBJECTIVETo assess the therapeutic effect of ozone therapy combined with sulfasalazine sulfasalazine delivered via a colon therapy system in the treatment of distal ulcerative colitis.

METHODSThis prospective randomized controlled clinical trial involved 54 patients with mild to moderate active distal ulcerative colitis, who were randomize into 3 groups in accordance with the inclusion criteria (n=18). Each group was given sulfasalazine at the daily dose of 2 g, and in colon therapy group and ozone therapy plus sulfasalazine therapy group, sulfasalazine was delivered via a colon therapy system on a daily basis; the control group received sulfasalazine via retention enema only. At 0, 2, and 4 weeks of the treatment, colonoscopy was performed to evaluate the disease activity, and biopsy samples were obtained at 0 and 4 weeks for histological examination.

RESULTSIn comparison with colon therapy group and control group, ozone therapy plus colon therapy resulted in more rapid alleviation of the clinical symptoms and better histological improvement without any adverse effects.

CONCLUSIONOzone therapy combined with sulfasalazine delivered via a colon therapy system is feasible and effective for treatment of ulcerative colitis.

Adolescent ; Adult ; Colitis, Ulcerative ; drug therapy ; therapy ; Female ; Humans ; Male ; Middle Aged ; Ozone ; therapeutic use ; Prospective Studies ; Sulfasalazine ; administration & dosage ; therapeutic use ; Young Adult

Objective To study the effect of HCV receptors′sequence on virus entry based on the two-dimensional structure and via tandem expression of HCV receptors on mouse hepatocytes.Methods The construced recombinant expression vectors pCDH-hLDLR-hSR-BⅠ-hCD81-GFP, pCDH-hLDLR-hCD81-hSR-BⅠ and pCDH-hCLDN-1-hOCLN-DsRed were cotransfected into 293FT cells with package vectors.The collected recombinant lentivirus expressing hCLDN-1-hOCLN was concentrated and attacked mouse hepatocytes.The transgenic mouse hepatocytes with tandem overexpression of CLDN-1 and OCLN were established after G418-selection.The transduced cells LSCCO/Hepa1-6 and LCSCO/Hepa1-6 were sorted via flow cytometry and puro-G418-selection after recombinant lentivirus expressing hLDLR-hSR-BⅠ-hCD81 and hLDLR-hCD81-hSR-BⅠattacked Hepa1-6 respectively.The infectivity of transduced mouse hepatocytes LSCCO/Hepa1-6 and LCSCO/Hepa1-6 to HCV was analyzed via direct-infection of serum-derived virus.Furthermore, the effect of HCV receptors′sequence on virus entry was studied.Results Both LSCCO/Hepa1-6 and LCSCO/Hepa1-6 enhanced HCV-cell binding.The transduced mouse hepatocytes LSCCO/Hepa1-6 had more HCV endocytosis.Conclusion SR-BⅠhas priority over CD81 in HCV entry in the early stage.

Objective To investigate the effect of aerobic exercise combined with routine rehabilitation therapy on cardiorespiratory exercise function and rehabilitation efficacy in stroke patients with hemiplegia.Methods Thirty consecutive stroke patients with the first-ever hemiplegia were enrolled prospectively.They were randomly assigned to an experimental group (n=13) or a control group (n=13) according to the random number table (n=15 in each group).Four patients withdrew,and finally 26 patients completed the study (n=13 in each group).The two groups of patients were given routine rehabilitation therapy.On the basis of routine rehabilitation therapy,the experimental group was also treated with aerobic exercise training,once a day,30 min each time for 4 weeks.The evaluations of cardiopulmonary exercise tests were performed on both groups before treatment and after 4 weeks of treatment (peak oxygen uptake [VO2peak]),anaerobic threshold [AT],peak minute ventilation [VEpeak]),and motor function (Fugl-Meyer assessment scale [FMA],activities of daily living (Barthel index [BI]) were performed.The differences between the two groups before and after treatment were compared.Results (1)Cardiopulmonary exercise test results:Compared with before treatment,VO2peak,AT,and VEpeak were increased significantly (16±4 ml/[kg·min] vs.13±3 ml/[kg·min],12.9±2.5 kg·min vs.10.0±2.7 ml/[kg·min],41±12 L/min vs.34±9 L/min,t=9.668,4.328,and 3.662,respectively,all P<0.01).There were no significant differences in VO2peak,AT,and VEpeak (14±4 ml/[kg·min] vs.14±4 ml/[kg·min],11.8±2.6 ml/[kg·min] vs.11.5±2.9 ml/[kg·min],29±8 L/min vs.28±6 L/min) in patients of the control group between before treatment and after treatment.There were no significant differences (t=0.863,0.583,and 0.314,respectively,all P>0.05).The differences in VO2peak,AT,and VEpeak in the patients of the control group before and after treatment were 0.4 (0.2,0.6),0.1 (-0.5,0.7 ml/kg·min) and 0 (-2.5,5.0 L/min),respectively.The differences of VO2peak,AT,and VEpeak in patients of the experimental group before and after treatment were 3.0 (2.2,3.9 ml/[kg·min],2.7 (1.8,5.3 ml/[kg·min],and 7.0 (1.0,13.0 L/min),respectively.There were significant differences in VO2peak,AT,and VEpeak before and after treatment between the two groups (Z=4.287,3.721,and 2.236,respectively,P<0.05).(2) FMA score and BI evaluation results:Compared with before treatment,the FMA score and Barthel index after treatment in patients of the experiment group were 70±24 vs.52±28 and 78±20 vs.60±28 respectively,t=4.076 and 4.239 respectively,P<0.01).Compared with before treatment,the FMA score and BI in the control group after treatment were improved significantly (68±25 vs.60±27 and 69±22 vs.59±26 respectively,t=3.168 and 5.436 respectively,all P<0.05).The FMA score and the difference of BI in the control group before and after treatment were 5.0 (2.0,12.0) and 10.0 (5.0,15.0) respectively,and those of the experimental group before and after treatment were 10.0 (4.5,32.0) and 11.0 (10.0,27.5) respectively,and there were no significant differences between the two groups (Z=1.393,1.352,all P>0.05).Conclusion On the basis of routine rehabilitation therapy,stroke patients with hemiplegia increasing aerobic exercise training may improve their cardiopulmonary exercise function.