Deafness refers to different degrees of hearing loss (HL). The factors leading to HL are complex, among which heredity is a major one. Nonsyndromic hearing loss (NSHL) accounts for 80% of hereditary deafness. More than 140 genes have been regarded to be closely related to NSHL. The mutation of GJB2 (gap junction protein, beta 2) gene accounts for 80% of NSHL and more than 50% of children NSHL, playing the most important role in deafness genes. This paper reviewed the studies on the association between GJB2 gene mutation and HL to provide reference for genetic diagnosis and counseling.
Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Humans ; Mutation

Objective To find out what kind of disease the uterine mass diagnosed by B-ultrasound is and discuss its outcome treated by hysteroscopy. Methods 78 cases of uterine mass were treated by hysteroscopy in our hospital from Auguest 2000 to July.2001, Masses were detected,cut out and sent for pathologic diagnosis. Results sixty-two cases (79.49%)(62/78)came to see their doctors with the symptoms,including abnormal bleeding (58) and abnormal discharge or abdominal pain(4).The other 16 cases were detected in regular physical examination without any complaint.No complication occurred during the operation.The results of pathology were as follows:endometrial polyp 51.3%(40/78),simplex hyperplasia 20.5%(16/78),complex hyperplasia 1.3%(1/78),atypical hyperplasia 2.6%(2/78),endometrial adenocarcinoma 1 3% (1/78),leiomyoma or adenomyoma 14.1%(11/78),incomplete abortion 1.3%(1/78),and no abnormolily 5 cases(6.4%).Thirty-five cases of mass were discovered in postmenopausal women and 85.7%(30/35)of cases were benign.Sixty-nine patients(88.5%)were followed up for (2～12)months after the operation.Sixty-five of them were satisfied with treatment.The satisfying rate was 94.2%.Especially with the postmenopausal women,all 31 cases were satisfied with the operation though 4 cases no longer contacted us. Conclusions Most of utering masses diagnosed by B ultrasound are benign.Hysteroscopy therapy is an appropriate method for the uterine mass in postmenopausal women.

Objective To study the prevention and treatment of bile duct injury during laparoscopic cholecystectomy(LC). Methods 22 cases of bile duct injury during LC were reviewed retrospectively. The features, diagnosis, treatment and efficacy of injury were summarized. Results All patients were successfully treated by Roux-en-Y cholangio-jejunostomy. Besides, 8 patients underwent plastic operation of bile duct of hepatic portal and 3 patients middle lobectomy of liver. 22 cases were followed up at the 1st and 3rd year after surgery, and no bile duct stricture, recurrence of jaundice and cholangitis occurred. Conclusions It's a key to prevent bile duct injury during LC. The management of bile duct injury should be chosen according to injured time, sites and types.

Objective To explore the effect of radiofrequency ablation (RFA) combined with transcatherter arterial chemo-embolization (TACE) and percaulaneous ethanol injection (PEI) for unresectable hepatic malignancies. Methods The clinical data of 41 cases of unresectable liver cancer(URLC)treated by RFA,TACE and PEI were analysed retrospectively. Results There were 30 cases of primary hepatic cancer(PHT) and 11 cases of secondary hepatic cancer in this series.Ultrasound,CT and MRI showed the tumors shrinking or stable in 26 of the 41 patients postoperatively.AFP decreased to normal in 12 cases of 16 AFP positive PHT patients after operation. No severe complication was seen in the series. Conclusions RFA combined with TACE and PEI is a safe, well-tolerated and effective method for unresectable hepatic carcinoma, and may improve the treatment efficacy of URLC.

Objectives To analyze the relationship between phosphorylation of serine-3 of cofilin1 and Taxol resistance of ovarian cancer and to evaluate the prognostic value of cofilin1 phosphorylation in estimating ovarian cancer survival using clinical samples.Methods Wild type (WT) plasmids with over-expression of wild cofilin1,S3L plasmids with over-expression of cofilin1 and inhibited phosphorylation at serine-3,and siRNA-C plasmids with down-regulation of cofilin1 were constructed using molecular biology techniques.After the SKOV3 and SK-TR30 cell-lines were transfected with these plasmids,changes in biological characteristics and drug resistance after instant transfection were compared.Fifty-one elderly female patients with microscopically confirmed ovarian cancer,who had received chemotherapy with Taxol and cis-platinum (TC)after surgery,including 30 chemo-sensitive and 21 chemo-resistant cases,were recruited in this study.Immunohistochemical methods were used to detect the expression of cofilinl and phosphorylated cofilin in tissue sections from the two groups.Progression free survival(PFS)was analyzed.Results Compared with the control group,the proportion of cells increased at the G0/G1 phase(P=0.034)and decreased at the S phase (P=0.031),and the apoptosis rate decreased(P=0.020),in SKOV3 cells with high expression of cofilin1.However,these characteristics disappeared when the wild type was replaced with the inactive mutant S3L.When cofilin1 expression was down-regulated in SK-TR30 cells,the proportion of cells at the G0/G1 phase decreased(P=0.020).The expression of cofilin1 was detected in 56.7 ％ (17/30)and 57.1％ (12/21),respectively,sections of ovarian tumor tissues of the chemo-sensitive and chemoresistant groups,and there was no statistic difference (x2=0.332,P =0.943)between the two groups.The expression of phosphorylated cofilin was much higher in the chemo-resistant group (85.7％ or 18/21)than in the chemo-sensitive group (53.3％ or 16/30),and the difference was statistically significant(x2=5.829,P=0.016).The higher expression of phosphorylated cofilin was also correlated with shorter PFS(x2 =21.440,P＜0.01,95％ CI:0.068-0.883),especially in the chemo-sensitive group.Conclusions Serine-3 phosphorylation status of cofilin 1 is associated with paclitaxel resistance in ovarian cancer,but the underlying mechanisms of regulation need further investigation.

Objective To investigate the changes of CA125 between primary cytoreductive surgery and interval debulking surgery for prediction the rate of optimal interval cytoreductive surgery and prediction the recurrence and the prognosis in patients with epithelial ovarian cancer.Methods A total of 39 cases with suboptimal primary cytoreductive surgery admitted from Jan.1996 to Jan.2009 were retrospectively analyzed.The median age of patients was 56 years( range:41 -68 years).Based on the changes in CA125level between primary cytoreductive surgery and interval debulking surgery,all cases were divided into four groups,group A (CA125 reduced to normal after primary cytoreductive surgery,n=6),group B (CA125reduced to normal after 1 - 2 cycles of chemotherapy,n =11 ),group C ( CA125 reduced to normal after 3 -4 cycles of chemotherapy,n =14),and group D ( CA125 did not reduced to normal after the chemotherapy,n =8 ), and all received platinum-based chemotherapy.The response to chemotherapy evaluated by pathological examination versus CA125 level,and recurrence and prognoses were also analyzed.Results ( 1 )The rate of optimal interval cytoreductive surgery in group A,B,C and D were 6/6,8/11,9/14 and 2/8respectively,in which there were statistically different between group A or B and group D (P ＜0.05).(2)The clinical benefit rates evaluated by the pathological examination in group A,B,C and D were 4/6,4/11,5/14 and 0,respectively and there were statistically different between group A and group D (P =0.030).( 3 ) There was significant difference in the recurrence rate between group A and group D (3/6 vs.8/8,P =0.024),while there were not significant differences between group B or C and group D ( all P ＞ 0.05 ).The rate of drug-resistant recurrence in group A,B,C and D were 1/6,3/11,5/14 and 7/8,respectively,in which there were significant differences between group A,B or C and group D ( all P ＜ 0.05 ). ( 4 ) The median progression-free survival (PFS) for patients in group A,B,C and D were 32,10,18 and 3 months,respectively,in which there were significant differences in the PFS between group A,B or C and group D (P =0.012,P =0.003,P =0.032 ).The median overall survival (OS) were 44,45,44 and 16 months,respectively.There were significant differences in the OS between group A,B or C and group D ( P =0.022,P =0.004,P =0.000 ).Conclusion The change of CA125 between primary cytoreductive surgery and interval debulking surgery may be predict the recurrence type and the prognosis in patients with epithelial ovarian cancer.

Objective Previous study showed that interval debulking surgery (IDS) may improve the survival of patients with advanced epithelial ovarian cancer (EOC).The precise significance of IDS needs to be evaluated.Methods Totally 136 consecutive patients with stage Ⅲ c or Ⅳ EOC (including primary peritoneal carcinoma and primary fallopian tube carcinoma ) who completed primary debulking surgery (PDS) and platinum-based chemotherapy were enrolled from January 2000 to December 2009 in a retrospective cohort study.The study group was divided into three groups:65 cases underwent optimal PDS (Group A ),41 cases received chemotherapy alone after suboptimal PDS (Group B ),and 30 patients underwent IDS after suboptimal PDS (Group C).All patients received six to eight courses of platinum-based combination chemotherapy (paclitaxel plus carboplatin/cisplatin,cyclophosphamide plus epirubicin and cisplatin).Patients' clinical characteristics,perioperative situation and prognosis were compared. Results Sixty-five cases (47.8％,65/136) from 136 patients achieved optimal PDS.For Group C,77％ (23/30)patients obtained optimal debulking surgery after IDS.Intraoperative injury rates were similar between Group B and Group C ( P ＞ 0.05 ).Mild perioperative complications rate was also similar ( P ＞0.05 ).Median progression-free survival (PFS) of Group A was 26 months.Median overall survival (OS) of Group B and Group C were 3l months and 40 months,respectively (P =0.254).Median PFS of Group B and Group C were 13 months and 24 months,respectively (P =0.289).Although when it came to 20 months after PDS,patients who underwent IDS had a significantly lower progressive disease (PD) rate (Group B 33％ versus Group C 61％,P =0.046 ),it still showed that there was no significant difference in either OS or PFS of these two groups.Those patients in Group C who obtained no visible residual got similar PFS (27 months) comparing to Group A (26 months,P =0.730),but OS was still shorter (P =0.010).Conclusions For advanced EOC patients,IDS has little effect on improving survival.While it is safe and acceptable,also may prolong PFS in those patients who got no visible residual after IDS.The results suggest that IDS might be used as an alternative treatment for advanced EOC patients who cannot obtain optimal PDS in certain local hospitals.

OBJECTIVE: To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing. METHOD: We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism. RESULT: Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism. CONCLUSION The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.
Alleles ; Beijing ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Genetic Testing ; Heterozygote ; Humans ; Infant, Newborn ; Mutation ; Neonatal Screening ; Polymorphism, Genetic

Objective To explore the clinical manifestation, diagnosis and prognosis of Leigh syndrome in children. Method Clinical data from 4 cases of Leigh syndrome conifrmed by genetic testing were retrospectively analyzed. The related literature were reviewed. Results In 4 cases, 3 were boys and one was a girl, 3 cases were onset in infant and one case was in school age. The main manifestations were mental retardation, low muscle tone, convulsions, feeding dififculties, drooping eyelids, extraocular muscle paralysis and nystagmus, irritation, activity intolerance etc. The brain magnetic resonance imaging (MRI) revealed symmetry long T1, T2 abnormal signal in brainstem, bilateral globus pallidus, thalamus, cerebellar dentate nuclei, and periaqueductal, 3 cases involved midbrain, one case involved thalamus, and one case involved cerebellar dentate nuclei;2 cases had encephalatrophy. Electromyography was normal in all cases. The levels of lactate in blood and cerebrospinal lfuid were increased. Mitochondrial DNA (mtDNA) detection found the mutation of mtDNA 8993 T>G in one case, and the mutation of mtDNA 9176 T>C in another 3 cases. The case onset in school age died of respiratory failure one month later, and another 3 cases were still in follow up, there were mental retardation, but no signiifcant setback. Conclusion The clinical manifestations of Leigh syndrome in children are diverse. The diagnosis is based on the typical clinical manifestations and MRI, blood and/or cerebrospinal lfuid lactate levels. The genetic testing is the golden standard for diagnosis.

Objective To investigate the clinical efficacy and side effects of malignant serosal effusion through injecting donor lymphocytes into serosal cavity once for all.Methods First,the serosal effusion was drained thoroughly,then donor lymphocytes were injected into pleural cavity once for all.Results Nine cases of malignant serosal effusion were treated;significant effectiveness included five cases,partial effectiveness four cases.The effect rate was 100 %.The main side effects were fever and chest pain.Conclusion Treatment of malignant serosal effusion through injecting donor lymphocytes into serosal cavity once for all has definite effectiveness,with acceptable side effects.