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 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 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 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.

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 explore the therapeutic effect of endonasal transsphenoidal sellar tumor resection surgery for the treatment of non-functioning pituitary adenoma patients with hyperprolactinemia. Methods A total of 80 non-functioning pituitary adenoma patients with serum prolactin level ＞25 ng/mL and ＜200 ng/mL, who underwent endonasal transsphenoidal sellar tumor resection surgery in the Department of Neurosurgery of our hospital from Jan. 1, 2015 to Dec. 31, 2019, were retrospectively included. The clinical characteristics, surgical methods, postoperative complications, and the relief of postoperative hyperprolactinemia and clinical symptoms were analyzed. The predictive factors of postoperative hyperprolactinemia remission were analyzed using logistic regression. Results Out of the 80 patients, 21 were males and 59 were females. The preoperative prolactin level was 51.11 (25.20-136.52) ng/mL, and the tumor volume was 3.99 (0.23-37.11) cm3. Headache was the most common initial symptom (37.5%, 30/80). There was significant difference in the initial symptoms between the male and female patients (P＝0.031), and the female patients were more likely to present with hypogonadotropic hypogonadism compared with the male patients (28.8%［17/59］vs 9.5%［2/21］). The male patients were significantly more likely to have two or more hormonal axis dysfunctions (47.6%［10/21］vs 15.3%［9/59］, P＝0.025). All the 80 patients received the resection surgery and 88.8% (71/80) of them achieved gross or near total resection. Sixty-five (81.2%) patients had remission of hyperprolactinemia within 3 months after surgery, and the prolactin level was 13.44 (1.74-24.19) ng/mL 3 months after surgery; 15 patients had no remission, and the corresponding prolactin level was 32.69 (25.20-115.23) ng/mL. The prolactin levels before and 1 d after surgery were significantly lower in the remission group than those in the non-remission group (preoperative: 45.47 ［25.20-136.52］ng/mL vs 64.82［33.17-130.88］ng/mL, P＝0.003; postoperative day 1: 13.12［0.60-36.35］ng/mL vs 40.06 ［26.25-118.01］ng/mL, P＜0.01). There were no significant differences in gender, age, tumor volume, surgical methods or extent of tumor resection between the two groups (all P＞0.05). Multivariate logistic regression analysis showed that prolactin level ≤25 ng/mL on postoperative day 1 was an independent predictor of remission of hyperprolactinemia (odds ratio 13.500, 95% confidence interval 3.623-50.298, P＜0.01). The visual defect and headache improvement rates were 87.9% (29/33) and 93.9% (31/33), respectively. Among the 17 female patients with menstrual disorders before surgery, 14 (82.4%) returned to normal menstrual cycles. Conclusion Endonasal transsphenoidal sellar tumor resection surgery is a reliable treatment option for non-functioning pituitary adenoma patients with hyperprolactinemia.

To systematically evaluate the prognostic value of lymphovascular invasion (LVI) in radical prostatectomy (RP) by a meta-analysis based on the published literature. To identify relevant studies, PubMed, Cochrane Library, and Web of Science database were searched from 1966 to May 2014. Finally, 25 studies (9503 patients) were included. LVI was found in 12.2% (1156/9503) of the RP specimens. LVI was found to be correlated with higher pathological tumor stages (greater than pT3 stage) (risk ratio [RR] 1.90, 95% confidence interval [CI] 1.73-2.08, P< 0.00001), higher Gleason scores (greater than GS = 7) (RR 1.30, 95% CI 1.23-1.38, P< 0.00001), positive pathological node (pN) status (RR 5.67, 95% CI 3.14-10.24, P< 0.00001), extracapsular extension (RR 1.72, 95% CI 1.46-2.02, P< 0.00001), and seminal vesicle involvement (RR 3.36, 95% CI 2.41-4.70, P< 0.00001). The pooled hazard ratio (HR) was statistically significant for Biochemical Recurrence-Free (BCR-free) probability (HR 2.05, 95% CI 1.64-2.56; Z = 6.30, P< 0.00001). Sensitivity analysis showed that the pooled HR and 95% CI were not significantly altered by the omission of any single study. Begg's Funnel plots showed no significant publication bias (P = 0.112). In conclusion, LVI exhibited a detrimental effect on the BCR-Free probability and clinicopathological features in RP specimens, and may prove to be an independent prognostic factor of BCR.

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.

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.