Objective To develop an operational gene diagnosis method for Chinese Facioscapulohumeral muscular dystrophy (FSHD) patients Methods Genomic DNAwas double digested with restriction enzymes EcoRⅠ/HindⅢ and EcoRI/BlnI,respectively The digested fragments were separated on a 0 6% agarose gel After transferred to a Nytran SuperCharge Membrane, the fragmented DNAs were hybridized with the probe p13E 11 The hybridizing fragments were analyzed by the software ImageMaster Total Lab v1 11 and the size of each band was then given Results Only a 4q35 EcoRI+HindIII/P13E 11 fragment larger than 33 kb was detected in each of the controls Two fragments were detected in each of the 33 FSHD patients, one of which was smaller than 33 kb Although there was also presence of two small alleles in the 3 other FSHD cases, either of them turned out to be 10q26 derived owing to its BlnI sensitivity Interestingly, we found a sporadic patient who carried three 4q35 type fragments and, strikingly, two of them were smaller than 33 kb In the analysis of FSHD family members, a 9 year old boy with no clinical signs was found to share the small fragment with his affected father, indicating that he may be a pre symptomatic patient Conclusion The double digestion associated Southern blotting method we developed can be applied to both the diagnosis of FSHD patients and the prediction of pre symptomatic patients Furthermore, by the gene detection using this method, we first got the evidence of translocation between 4q and 10q in Chinese FSHD patients, which may be helpful to the elucidation of the pathogenesis of FSHD

OBJECTIVE:To investigate the effects of total glucosides of paeony(TGP) on the expressions of CD4+ T lymphocytes and IL- 6 in prostatic tissues of rats with chronic abacterial prostatitis(CAP) and to study its action mechanism on CAP.METHODS:36 SD rats were randomly divided into three groups:CAP control group(n = 12 rats),low dose CAP + TGP group(n = 12) and high dose CAP + TGP group(n = 12).The expressions of CD4+ T lympholeukocytes and IL- 6 in prostatic tissues of rats were detected by immunohistochemistry after medication were investigated,and the changes in histopathology of prostatic tissues.RESULTS:Significant inflammatory condition was noted in CAP control group;improvement of glandular structure and infiltration of small number of inflammatory cells were noted for low dose TGP group.In high dose TGP group,inflammation was abated markedly and there was diffused distribution of a few number of inflammatory cells. As compared with CAP group,the expressions of CD4+ T lymphocytes and IL 6 were down regulated significantly in both the high dose and low dose TGP groups(P

Objective To explore the features of clinical and progression of multiple system atrophy(MSA).Methods The clinic data of 28 subjects diagnosed as probable MSA according to Gilman diagnostic criteria were studied retrospectively.Three aspects of activities of daily living(ADL)(aid-requiring walking,wheelchair-bound state and bedridden state)were used to assess the progression of disease.Kaplan-Meier analysis was also used to estimate the difference between subgroups.Results Three systems were involved in 26 cases(92.9%)and autonomic functional disturbance was common.The calculated median time from onset to evolution to MSA was mean 2 years.The median times from onset to aid-requiring walking,wheelchair requirement and bedridden state were 3,5 and 7 years,respectively.The patients impaired both of motor and autonomic systems progressed fastly within 3 years from onset of the disease(P

Objective To investigate the effects of rhG-CSF on the neuronal cell apoptosis and expression of VEGF after cerebral ischemia in diabetic rats.Methods Wistar diabetic rats were subjected to middle cerebral artery occlusion and randomly devided into control group and rhG-CSF group.The rhG-CSF group received subcutaneous injection of rhG-CSF 50 ?g/(kg?d)for 7 d,14 d and 21 d after cerebral ischemia.Neurological severity scores(NSS),TUNEL,and immunohistological assessments of VEGF were performed to evaluate the rhG-CSF treatment.Results Compared with the control group,the rhG-CSF group showed significantly improved in the NSS,significantly decreased in the TUNEL positive apoptotic neuronal cells and significantly increased in the VEGF positive neuronal cells(all P

Objective To evaluate the efficiency of Finasteride in treating inflammatory hemospermia and approach the mechanism of action. Methods 56 cases of hemospermia were randomly divided into two groups. The experimental group (n = 30) was treated with Finasteride combined with antibiotic for 1 month, while the control group(n=26) was treated only with antibiotics for 1 month. The expression of VEGF in sperma was de-tected by enzyme linked immunosorbent assay (ELISA) in pretherapy and post-treatment. Results Hemospermia disappeared in 28 cases of experiment group(28/30, 93.3%) and in 17 cases of control group(15/30,57.7%),with significant difference. The expression of VEGF degrade in post-treatment. Conclusions Hemospermia can be treated more effective with finastefide combined with antibiotics. The mechanisms may be associated with Finas-teride can reduce VEGF synthesis and inhibit the microvascular formation.

Objective To compare the advantages and disadvantages of uniportal video-assisted thoracic surgery(uniportal-VATS)and three portal VATS in treatment of benign pulmonary diseases. Methods The clinical data of 66 patients with benign pulmonary disease treated by VAST from June 2015 to October 2016 were retrospec-tively analyzed. The patients were divided into two groups according to the specific operation. There were 32 patients (18 males and 14 females)in uniportal-VATS group. There were 34 patients(18 males and 16 females)in three portal VATS group. The operative time ,intraoperative blood loss ,thoracic drainage volume at 24 h after opera-tion,incision length,and the time of postoperative drainage of thoracic cavity,postoperative third day pain score and complication rate were compared between the two groups. Results The patients in the experimental and the control groups were successfully operated according to the scheduled protocol. No thoracotomy was performed. There was no statistical difference in the volume of blood loss,the volume of pleural drainage after 24 hours,the time of postoperative drainage of thoracic cavity ,the length of hospital stays and postoperative complications in uni-portal-VATS group and three portal VATS group(P>0.05). The pain score and postoperative third day pain score of the uniportal-VATS group was better than that of the three portal VATS group(P<0.05),but the operation time of the uniportal-VATS group was longer than that of the three portal VATS group(P<0.05). Conclusion Uniportal-VATS is safe and feasible for the treatment of benign lung diseases. It is more minimally invasive and beautiful than traditional three-hole thoracoscopic surgery. It is worthy of promotion and has broad prospects.

Objective To report clinical symptoms of a Chinese pedigree of familial paramyotonia congenital (PMC) with progressive myopathy (PM), and investigate the mutations of hot spots in the adult skeletal muscle sodium channel α-subunit (SCN4A). Methods The medical history and clinical phenotype of the patients from this large family with PMC were collected. Insertional and spontaneous activity were recorded by routine electromyograph (EMG), and the exercise test (ET) and cool water test were also performed on some patients during episodes. The mutations of SCN4A were screened by PCR-SSCP and DNA sequencing in affected and unaffected members. Results The family is a four-generation kindred with 15 members affected by severe, homogeneous paralysis periodiea paramyotoniea pheuotype. The onset was early, and almost all patients developed severe progressive myopathy by middle age. Routine EMG shows myotonia discharge in all affected subjects. The compound remarkably motor action potential (CMAP) decreased more than 40% after ET with greater decreases in cool water test than in ET. The mutation screening study revealed a missense mutation (Met1592Val) in SCN4A in patients. Conclusions Autosomal dominant inheritance pattern with complete penetrance was observed in this family. The phenotype is in accord with that reported in other ethnic populations with more severe symptoms. The ET and cool water tests may be used as an easy and reliable diagnostic method. Our research supports that periodic paralysis and paramyotonia can be caused by the same mutation in SCN4A. Mutation Met1592Val is a hotspot for mutation screening in patients with PMC accompanied by PM in the Chinese population.

Objective:To evaluate the function of bladder after gastrocystoplasty.Methods:38 patients after gastrocystoplasty were analyzed by observing the micturition and examination of urodynamics and to investigate the function of bladder during the filling and the micturition.Results:In the 38 patients,voiding interval time was 3.2?1.7hours;unirary output was 320?110ml;maximual flow rate was 19?7.2 ml per second;intravcsical pressure during filling was 11.2?8.2 cmH 2O;maximual intravesical pressure during voiding was 58?21 cmH 2O;and maximual pressure of detrusor was 28?12 cmH 2O.In total 38 cases,residual urine was observed in 11 cases,and residual volume was 55?34ml.12 cases developed uracratia or enuresis.Conclusion:Filling function of bladder is satisfactory after gastrocystoplasty,the micturition is carried out mainly by the action of intra-abdominal pressure.The disturbance of function of the sensation of bladder and the urethral sphincter is possibly the common cause for uracratia or enuresis.

Objective To study the correlation between the renin-angiotensin-aldosterone system angiotensinogen (AGT) gene M235T,angiotensin Ⅱ type 1 receptor (AGTR1) gene Al166C,aldosterone synthase (CYP11B2) gene -344C/T polymorphisms and large-artery atherosclerotic (LAA) stroke in a southern Chinese Han population.Methods Polymerase chain reaction and gene sequencing technology were used for the genotyping in patients with LAA and normal controls with AGT gene M235T,AGTR1 gene A1166C,and CYP11B2 gene - 344C/T polymorphisms in a southern Chinese Han population,and to determine the correlation between the 3 gene polymorphisms and LAA by binary logistic regression analysis.Results A total of 107 patients with LAA and 142 healthy controls were included in the study.The frequencies of the AGT gene 253TT genotype (66.36％ vs.50.70％,x2 =6.122,P =0.047) and T allele (79.44％ vs.70.07％ ％,x2 =5.581,P =0.018) in the LAA group were significantly higher than those in the control group.The frequencies of the AGTR1 gene 1166CC genotype (0％ vs.0％,x2 =1.494,P =0.222) and C allele (7.48％ vs.4.93％,x2 =1.399,P =0.237) in the LAA group were no significantly differences with those in the control group.The frequencies of the CYP11B2 gene - 344CC genotype (9.35％ vs.4.23％,x2 =3.603,P =0.165) and C allele (27.10％ vs.26.06％,x2 =0.069,P =0.793) in the LAA group were no significant differences with those in the control group.Binary logistic regression analysis showed that there was no significant correlation between the three gene polymorphisms and the simple LAA diseases.The frequencies of AGT gene 235TT genotype (68.00％ vs.41.90％,x2 =12.446,P =0.002) and T allele (79.33％ vs.64.76％,x2 =8.993,P =0.003) in the LAA patients complicated with hypertension were significantly higher than those in the normotensive control group.Logistic regression analysis showed that the odds ratio (OR) exposed to TT genotype was 2.153 (95％ confidence interval [CI] 0.789-5.872).The OR of T allele was 2.089 (95％ CI 1.285-3.396).Conclusions The AGT gene M235T polymorphism is not associated with the simple LAA in the southern Chinese Han population,but it may be associated with the risk of LAA complicated with hypertension;CYP11B2 gene -344C/T polymorphism and AGTR1 gene A1166C polymorphism are not associated with the onset of LAA in the southern Chinese Han population.

Objective To evaluate the detection of culture filtrate protein 10 (CFP10) and 6000 early secretory antigenic target (ESAT-6) in cerebrospinal fluid to be used in diagnosing tuberculous meningitis. Methods Dot enzyme linked immunosorbent assay ( Dot ELISA) method that was improved by applying concentrated cerebrospinal fluid was used to detect CFP10 and ESAT-6 in cerebrospinal fluid to analyze small protein antigen secreted by M. tuberculosis. Cerebrospinal fluid of 111 subjects were collected,in which 58 specimens were clinically diagnosed as tuberculous meningitis and 53 as non-tuberculous.CFP10 and ESAT-6 were detected in cerebrospinal fluid using Dot ELISA method and the results were analyzed. Results The sensitivities of detecting CFP10 and ESAT-6 antigen were 93.1% and 91.4% respectively, and the specificities were 92. 5% and 94. 3% respectively. The sensitivities and specificities are generally higher compared with the other methods of detecting M. tuberculosis or materials of M. tuberculosis by acid-fast staining or mycobacterium tuberculosis culture and polymerase chain reaction.Conclusions Using Dot ELISA method to detect CFP10 and ESAT-6 in cerebrospinal fluid to diagnose tuberculous meningitis has a high sensitivity and specificity. Our study provided the evidence of detecting the specific antigen of M. tuberculosis to be used in diagnosing tuberculosis.