The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
Calcium-Transporting ATPases/*genetics ; DNA Mutational Analysis ; Pemphigus, Benign Familial/*genetics ; Sequence Deletion

Objective To detect the expressions of nerve growth factor (NGF) and its receptors tyrosine kinase A (TrkA) as well as p75 neurotrophin receptor (p75NTR) in the lesions of lichen planus.Methods Biopsy specimens were collected from the lesions of 32 patients with lichen planus and normal skin of 12 healthy human controls and subjected to paraffin embedding.Immunohistochemical avidin-biotin complex (ABC) method was used to detect the expressions of NGF,TrkA and p75NTR.Results NGF and TrkA,which were located in the cytoplasm of keratinocytes,were strongly or moderately expressed in the lesional skin specimens,but absent or weakly expressed in the normal skin specimens (both P ＜ 0.01).No significant differences were observed in the expression of p75NTR between the lesional and normal skin specimens,or in the expressions of NGF,TrkA or p75NTR among specimens from patients in different age groups,patients of different gender or lesions at different sites (all P ＞ 0.05).There was a positive correlation between the expression of NGF and TrkA in the lesions of lichen planus (R2 =0.535,P ＜ 0.01).Conclusion NGF may play a certain role in the development of lichen planus via its highaffinity receptor TrkA.

Objective To study the relationship between the mutation of the inverted repeat (IR) gene in the multiple transferable resistant (mtr) system and multiple antibiotic resistance of Neisseria gonorrhoeae. Methods The antimicrobial susceptibilities of isolated strains were tested. An agar plate dilution method was used to determine the minimum inhibitory concentrations. The target genes were amplified by PCR and subjected to sequencing. Results No mutation was found in the IR gene of either of 2 sensitive or 5 penicillin-resistant Neisseria gonorrhoeas strains. Among the 17 multiple-antibiotic-resistant strains, a strain with both azithromycin- and penicillin-resistance had T/A and T/A insertions, and another had A/T deletion. Conclusion Mutations in the IR gene of the mtr system of Neisseria gonorrhoeae might result in multiple antibiotic resistance.

Objective To study the effect of siRNA targeting survivin gene on the apoptosis of malignant melanoma cell line A375. Methods The eucaryotic expression vector of pU-survivin-siRNA was constructed and transfected into the A375 cells by electroporation. The protein expression of survivin was examined by Western blotting, and cell apoptosis by flow cytometry. Results The transfection of pU-sur-vivin-siRNA significantly down-regulated survivin expression ( 0.24 ?0.02 in the transfected group versus 0.98 ?0.21 in the control group ) in A375 cells, and promoted cell apoptosis ( 83% in the transfected group versus 28% in the control group, P

Objective To investigate the role of costimulatory molecules CD28/B7 in the pathogenesis of psoriasis. Methods The expression of CD28, CD80 and CD86 was detected in the lesional skin of 22 cases by immunohistochemical technique (ABC), and in the peripheral blood lymphocytes of 17 cases by flow cytometry respectively. As control, normal skin and lymphocytes from peripheral blood of healthy volunteers were also tested. Results The immunohistochemistry study showed that the expression of CD28, CD80 and CD86 in the psoriatic lesions was significantly higher than that in the normal controls (P .05). Conclusion CD28, CD80 and CD86 might play a certain role in the pathogenesis in psoriasis.

Objective To explore a modified method of cerebellar tonsillectomy combined with posterior fossa decompression via small-size craniotomy for Chiari- malformation associated with syringomyelia and to evaluate its clinical efficacy. Methods The clinical data of 29 Chiari- malformation patients associated with syringomyelia, who underwent modified cerebellar tonsillectomy combined with posterior fossa decompression via small-size craniotomy from January 2012 to January 2014, were analyzed retrospectively.Patients were prone with head and neck in the coaxial position and received surgical intervention including posterior fossa decompression via small-size craniotomy, opening the rear atlas arch, resection of the inner part of cervical canal of the cerebellar tonsil herniation while keeping the integrity of soft meninges, adhesiolysis of median aperture of the fourth ventricle, dissection of the suture of arachnoid and dural edge to avoid latrogenic dead space, and suture of the dura with autologous fascia. The cerebrospinal fluid release rate of the whole process was controlled. Results A total of 24 patients were followed up after operation while 5 patients were lost in follow-up. The clinical symptom of 23 patients was improved within one year after operation. The repression of medulla oblongata and posterior upper part of cervical cord was removed in MRI examination 6 months after operation. The lower edge of cerebellar tonsillar was up to the plane above the foramen magnum and the herniation was resolved. The syringomyelia was shortened or disappeared. Conclusion Modified cerebellar tonsillectomy combined with posterior fossa decompression via small-size craniotomy, as a microscopy neurosurgery, is an effective method for the treatment of Chiari- malformation associated with syringomyelia.

ObjectiveTo investigate the imaging characteristic of DW1,tumor cell apoptosis and proliferation of nasopharyngeal carcinoma (NPC) xenograft transfected hNIS gene after 131Ⅰ treatment.MethodsThe NPC xenograft models were established with CNE-2-hNIS cells(experimental group) and CNE-2 cells(control group) respectively.After i.p.injections 131Ⅰ in the experimental group and control group,the changes of xenograft tumor volume and ADC value were observed in 3,6,12,18,24 days by MR scan.The correlations of changes of ADC with pathological TUNEL,Caspase-3 immunohistochemistry of apoptosis,and Ki-67 proliferation detection were further investigated.Independent samples t-test were compared between the two groups and Pearson linear correlation analysis was used.ResultsThe tumor volume of the experimental group was significantly reduced compared with that of the control group after 131 Ⅰ treatment (t values:8.27-19.46,P ＜0.05 ).DW-MRI showed that in the 3th day after 131Ⅰ treatment,ADC values increased in the experimental group,and ADC values reached the peak in the 6th and 12th day after 131Ⅰ treatment,then ADC values were decreased. ADC values after treatment was positively correlated with apoptotic index ( r =0.72,P ＜ 0.05 ) and caspase-3 positive rate ( r =0.65,P ＜ 0.05) and there was a negative correlation with Ki-67 proliferation index ( r =- 0.71,P ＜ 0.05 ).ConclusionADC values can reflect growth inhibition of NPC xenograft transfected hNIS gene after 131 I treatment.It is possible that DWMRI techniques can be used in early non-invasively monitor the therapy effect of 131Ⅰ treatment of NPC xenografts transfected hNIS gene.

Objective Preliminary study of the cough reflex sensitivity test in chronic cough patients with different gender,disease duration and causes to evaluate the clinical diagnostic significance of the test and further provide some information for the treatment of chronic cough.Methods Totally 108 chronic cough patients in our hospital were enrolled in the study with the final diagnosis of upper airway cough syndrome(UACS),cough variant asthma(CVA)and gastroesophageal reflux cough(GERC).They all went through the cough reflex sensitivity test and the retrospective analysis of the results was made.Results In 108 patients with chronic cough(76 UACS,19 CVA and 13 GERC),lgC5 was significantly slower in the female(1.80)than the male(2.40,P<0.05)and in the patients with cough duration over 12 months(1.80)than those with cough duration under 12 months(2.40,P<0.05).Cough sensitivity in patients with different causes was significantly different(P<0.05)with lower lgC5 in GERC patients(1.49)than CVA (2.40,P<0.05)and UACS(2.40,P<0.05)patients.Conclusion Cough sensitivity is different in chronic cough patients with different gender,disease duration and causes.Cough reflex sensitivity test is of great value in the etiology diagnosis of chronic cough.

A site-directed mutant DNA fragment was synthesized and transfected into clinical Neisseria gonorrhoeae (NG) stains to construct the transformants that contained the corresponding mutagenesis of regulation region of mtrR gene. According to the technique of gene splicing by overlap extension (SOEing), a DNA segment with specific mutagenesis was constructed by two-step polymerase chain reaction (PCR). The mutation fragments EF could be used for the next experiment in which the mutation NG strains were induced. By comparing the recombinant EF fragments to the corresponding DNA fragments of clinical NG strains, 2 of these were not compatible completely. The results of sequencing revealed that there was a 9 bp deletion between the 45 to 54 inverted repeat sequence localized within the mtrR promoter. It can be confirmed that the fragments EF are the specifically designed mutant fragments.
Bacterial Proteins/*genetics ; DNA Fragmentation ; DNA, Bacterial/genetics ; Mutagenesis, Site-Directed ; Neisseria gonorrhoeae/*genetics ; Neisseria gonorrhoeae/metabolism ; Recombination, Genetic ; Repressor Proteins/*genetics ; Sequence Deletion ; Transfection ; Transformation, Bacterial

To study the relationship between mutation of the inverted repeat sequence (IR) in the multiple transferable resistant system (mtr) of Neisseria gonorrhoeae (NG) and its multiple antibiotic resistance, minimal inhibitory concentrations (MICs) for the clinically isolated strains were tested by agar-dilution-method. The mtr system's IR gene of NG was sequenced after amplification by polymerase chain reaction (PCR). Either two susceptive or five penicillin-resistant strains had no base mutation in IR gene, while all of the 13 strains with multiple-antibiotic-resistance had a single-base deletion (A/T). The result suggests that a single-base deletion of the thirteen-base IR sequence in mtr system of NG might result in multiple antibiotic resistance but is not associated with single antibiotic resistance.