The Detection of Deafness Predisposing Genes Mutation in 375 Nonsyndromic Hearing Loss Patients from Gansu Province / 听力学及言语疾病杂志

Objective To investigate the molecular genetic causes and their characteristics of deafness from patients with nonsyndromic hearing loss in Gansu province.Methods Peripheral blood samples were obtained from a total of 375 patients with nonsyndromic hearing loss to extract genomic DNA.Three genes of GJB2, mitochondrial DNA 12SrRNA, and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among 375 patients, 23 patients were found to carry the homoplasmic mtDNA12SrRNA A1555G mutation, and 2 patients were detected to carry the homoplasmic mtDNA12SrRNA C1494T mutation.Forty-two cases(11.2%) were caused by GJB2 mutations, including 31cases(8.3%) of homozygous mutations, 11 patients(2.9%) of compound heterozygous mutations, and 25 cases(6.7%) of single homozygous mutations.c.235delC was the most prevalent GJB2 mutation with the allele frequency of 8.8%.Twenty-nine cases (7.7%) were caused by SLC26A4mutations, including 17cases(4.5%) of homozygous mutations, 12 patients(3.2%) of compound heterozygous mutations, and 16 cases(4.3%) of single homozygous mutations.c.919-2A>G and c.2168A>G were the most common SLC26A4 mutation, the allele frequencies were 5.2% and 2.0%, respectively.Conclusion A high incidence of mtDNA12SrRNAA1555G mutation is found in nonsyndromic hearing loss patients from Gansu province, while the incidence of GJB2 and SLC26A4 mutations is similar to the level of the overall Chinese deaf population.These findings demonstrate that a total of 25.6% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mitochondrialDNA12SrRNA mutations.As a result 36% patients and family member can acquire effective genetic counseling.

Causes of tadalafil failure and rechallenging treatment / 中华泌尿外科杂志

ObjectiveTo assess the cause of tadalafil failure and the feasibility of successfully rechallenging nonresponding patients.Methods A total of 80 consecutive erectile dysfunction ( ED ) patients who claimed poor response to tadalafil were enrolled into the study.A self-administered tadalafil-use questionnaire composed of eight questions was applied to assess how they had used tadalafil.Subjects were given thorough instruction based on individual answers and four doses of tadalafil 20mg.After a 2-week follow-up,end point efficacy of rechallenge was evaluated using the sexual encounter profile (SEP),which was recommended by international advisory panel in 2004.ResultsA total of 45 subjects had one or more areas of major suboptimal use of tadalafil:21.2％ did not know that sexual stimulation was necessary for tadalafil to work,87.5％ attempted to use tadalafil less than four times,57.5％ took a maximal dose less than 20 mg,and 84％ felt nervous or anxious.Of the 65 patients undergoing tadalafil rechallenge,30 patients answered “yes” to SEP2 and SEP3.The response rate to rechallenge was 46.2％ ( 30/65 ).ConclusionsInappropriate use of tadalafil was major cause of tadalafil non-pesponse.The efficacy of tadalafil could be improved to a better extent by education of patients.

Causes of erectile dysfunction after spinal or pelvic injuries / 中华泌尿外科杂志

Objective To assess the causes of erectile dysfunction (ED) after spinal or pelvic injuries.Methods From 2005 to 2009,a total of 67 patients who complained of ED after pelvic fracture or spinal injures were evaluated with the average patient age of 32 yrs (18 to 64) and average injury period of 38 mon (3 -144).Of the 67 patients,56 had pelvic fractures (84％) and 11 patients had spinal injures ( 16％ ).All patients reported normal erectile function before the injuries.All patients answered IIEF-5 and underwent nocturnal penile tumescence (NPT) tests (Rigiscan assessment system,continuing three nights).If resuls of the test were abnormal,color penile duplex ultrasound ( CDU ) with intracavernous injection were performed.Normal nocturnal erectile function was defined as at least three tumescence periods lasting more the 10 minutes with rigidity at the penile tip of at least 70％.Patients with abnormal nocturnal erectile function were diagnosed with organic ED.Patients who achieved a fully erect penis after intracavernous injection,and who had a peak systolic velocity ( PSV ) of less than 25 em/s on CDU were diagnosed with arterial ED.Patients with a PSV of more than 25 cm/s and an end diastolic velocity (EDV) of more than 5 cm/s on CDU indicated venous leakage.Patients with organic ED who had normal vascular function on duplex ultrasound were diagnosed with neurogenic ED.Results All patients reported IIEF-5 less than 8,NPT tests showed that all patients had organic ED.Of the patients with pelvic fracture,neurogenic ED,arterial ED and venous leakage was diagnosed in 24 patients (43％),22 patients (39％) and 10 patients (18％),respectively.However,the patients with spinal injuries were all diagnosed with neurogenic ED.Conclusions Pelvic fracture and spinal injury can cause organic ED.Vascular ED is common in pelvic fracture,however,neurogenic ED was the most common type of ED in spinal injury.

Studies on sexual function of patients with erectile dysfunction-no sexual life using self-estimation index of erectile function-no sexual life / 中华泌尿外科杂志

Objective To estabalish a new conception, Erectile Dysfunction-no sexual life (ED-NS), so as create an evaluating questionnaire, Self-estimation Index of erectile function-No sexual life (SIEF-NS) so as to investigate its clinical reliability. Methods The conception of ED-NS was identified and the SIEF-NS questionnaire was established. Patients who complained of ED-NS and normal controls were enrolled into the research and assessed the erectile function was assessed with SIEF-NS.The SIEF-NS includes 12 questions, such as sexual libido, general erectile function, nocturnal penile erection, erectile function during foreplay, erectile function during audio-video sexual stimulation,confidence, depression, etc and each question has 5 point scales. Results Sixty-one ED-NS patients and 57 controls were enrolled into the study and assessed erectile function with SIEF-NS. The mean score of each question and integral score of SIEF-NS in ED-NS patients were significantly different from normal controls (P＜0. 05). When the integral score was 35 points according to the ROC curve of integral score, the sensitivity of SIEF-NS was 88.5% and specificity was 96. 5%. Conclusions ED-NS is a new conception to define patients who have erectile dysfunction without sexual life. SIEFNS is suggested to be a useful method for the evaluation of ED-NS patients.

Causes of on-demand sildenafil failure and rechallenging treatment / 中华泌尿外科杂志

Objective To assess the causes of sildenafil failure and the feasibility of successfully rechallenging non-responding patients. Methods A total of 126 consecutive erectile dysfunction (ED) patients from Jan 2009 to Dec 2009 who claimed poor response to sildenafil (sildenafil 100 mg on demand, at lease 4 epiodes) were enrolled into the study. All patients received sexual reeducation and were treated with sildenafil, taken on a daily dose of 50 mg for 4 weeks. The International Index of Erectile Function-5 (IIEF-5), Rigiscan, serum testosterone or penile Doppler were used to evaluate ED and the cause of on-demand sildenafil failure. End point efficacy of rechallenging was evaluated using the IIEF-5 and the sexual encounter profile (SEP) 'Were you able to insert your penis into your partner's vagina?' and 'Did your erection last long enough to achieve successful intercourse?'. Results The recruited patients comprised of 41 cases with psychological ED, 39 cases with hypogonadism ED, 28 cases with diabetes mellitus ED and 18 cases with vascular ED. Compared with pretreatment and on-demand sildenafil baseline, daily administration of sildenafil significantly enhanced all efficacy outcome variables. The IIEF-5 was significantly improved after daily sildenafil (12.3 ± 2.9 vs18. 8±4.4, P＜0.01), 78 patients responded to daily sildenafil. The overall salvage rate was 61.9%(78/126). Conclusions Sexual reeducation and daily administration of sildenafil may be able to salvage many patients with ED who were sildenafil non-responders.

Comparison of the circumferential approach and suprapubic approach for correcting concealed penis / 中华泌尿外科杂志

Objective To compare the circumferential approach and suprapubic approach for correcting the concealed penis. Methods Thirty-four patients received circumferential approach (group A,18 cases)or suprapubic approach(group B,15 cases)randomly for the concealed penis.The length of penis without erection before and after surgery treatment,patients'satisfaction and surgical complications were evaluated.All the patients were followed at least 6 months after operation.Results The penile length before and after surgery in group A were(1.78±0.41)cm vs(3.97±0.47)cm,the length of the postoperative penis was significantly longer than that of the preoperative penis(P<0.01).83%of those in group A(15 cases)were satisfied with the cosmic results.The length of preoperative and postoperative penis in group B were(2.07±0.53)cm vs(4.05±0.81)cm respectively,the length of the postoperative penis was significantly longer(P<0.01).Satisfaction was 87%(13 cases).The postoperative penile length between the 2 groups was not different(P> 0.05).Prepuce edema was reported to Occur in 56%and 13%in group A and group B and spontaneously disappeared within 3 months.Fat synchysis occurred in 2 of group B. Conclusions The cosmic effect of the 2 surgical approaches is similar,but circumferential approach is simpler.There is no serious complication in those receiving circumferential approach.

The efficacy of microvasoepididymostomy for the treatment of obstructive azoospermia / 中华泌尿外科杂志

Objective To evaluate the efficacy of microvasoepididymostomy for the treatment of obstructive azoospermia. Methods Ninety-eight patients were confirmed as obstructive azoospermia by infertility investigations.The mean (range) age was 31 (20-43) years.The mean duration of obstruetion was 4 years.All patients were seen by the surgeon for a complete history and physical examination.Semen analyses proved azoopermia,serum levels of sexual hormone were normal and testicular function for production of sperms were normal certified by biopsy.All patients with suspected epididymal or vasal obstruction were offered scrotal exploration.The decision for microvasoepididymostomy was made during surgery,based on the pateney of the vas towards the abdomen documented by saline and sperm fragments containing in the epididymal fluid on intraoperative light-microscopic examination.Microvasoepididymostomy was performed in 58 patients documented epididymal obstruction The initial semen analysis was then done after usually 3 months postoperatively.Patency was arbitrarily defined as＞10 000 sperm/mL in ejaculate in at least one semen analysis after surgery.Postoperative patency rate and postoperative impregnation rate were followed. Results Fifty patients were followed up for 3-29 months,8 cases lost.Sperm was found by semen analysis in 36 patients.Sperm density was 4×104-2×108 sperms/ml and motility was 2%-70%.Semen analysis reveals azoospermia in 6 patients and the patients were counseled to undergo further testing to determine the ultimate outcome of the procedure.Natural conception occurred in 14 patients followed for more than 12 months.The overall pateney rate was 72%(36/50).Among patients with a follow-up of＞6 months,the natural paternity rate was 28%(14/50).The median time to achieve a natural pregnancy was 6.6 (4.0-10.0)months. Conclusion A more favourable patency can be achieved using microsurgical intussusception vasoepididymostomy and a part of patients with obstructive azoospermia can be cured by this means.

Malignant mesothelioma of the tunica vaginalis testis (a case report and literature review) / 中华泌尿外科杂志

Objective To review the clinical manifestation,pathological characteristics,treat ment and prognosis of malignant mesothelioma of the tuniea vaginalis testis.Methods A case of ma lignant mesothelioma of the tunica vaginalis testis was reported and relative literature was reviewed.A34 year old man was admitted to hospital with a history of aggravated hydroeele for 5 years.A hardtumor was palpated above the right testis,which was smooth and slight tenderness.The level of β-hCG and AFP was normal.Ultrasonography revealed a 2.05 cm× 1.97 cm,well demarcated,mixedecho tumor.Results An operation was performed to incise the tumor and tunica vaginalis undersubarachnoid space block anesthesia.The tumor was histologically diagnosed as low potential malig nant mesothelioma of the tunica vaginalis testis.Microscopic examination showed that the tumor wasmalignant with a biphasic pattern composed of epithelial and stromal components.The former compo nent was dominant.The epithelial cells proliferated obviously with atypia and mitosis.Immunohisto chemical staining showed cytokeratin and vimentin were strongly positive.The capillary,lymph ves sel,spermatic cord and testis were not infiltrated.Right radical orchiectomy and right scrotectomywas performed one month after the first operation.There was no evidence of relapse during 38 monthfollow up after operation.Conclusions The major symptom of patients with malignant mesotheliomais hydrocele,malignant mesothelioma is diagnosed by histopathology.Due to the invasive potential ofthis disease and the risk of tumor recurrence,radical orchiectomy and close follow up are strongly rec ommended.

A universal newborn hearing screening with hearing and deafness predisposing genes in 1234 newborn babies / 中国耳鼻咽喉头颈外科

G heterozygote carriers.The carrying rate of deafness gene was 26‰(32/1234).In the 32 carriers,there are 5 babies showed 'refer' at the first step of hearing screening.In the 1234 babies,112 babies showed 'refer' at the first step of hearing screening.CONCLUSION Deafness gene screening can make up for the deficiencies of the universal newborn hearing screening,and should be used in this kind screening more widely.

Seminiferous tubule scores used for quantitative assessment of spermatogenic function of patients with azoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the clinical reliability of quantitative evaluation by seminiferous tubule scores on spermatogenesis dysfunction, using the testis tissues of azoospermia patients for analysis of histological changes.</p><p><b>METHODS</b>One hundred and twelve Chinese patients with azoospermia underwent open testicular biopsy and their testicular biopsy specimens were evaluated by 10-score (on testicular biopsy) and 5-Grade (on seminiferous tubule spermatogenesis) scale. The 112 patient, 22 to 46 years old [(29.0 +/- 4.4) years old] included 105 cases of obstructive and 7 cases non-obstructive azoospermia. Of the total number, there were 96 primary infertile cases and 16 secondary infertile cases with infertile marriage of 2-12 years [(4.0 +/- 2.8) years]. Various seminiferous tubule characteristics were categorized by 10-score as follows: [1] degenerating Sertoli cells and no germinal epithelium; [2] no germ cells and only Sertoli cells; [3] no spermatids and primary spermatocytes and only spermatogonia; [4] no spermatids and few primary spermatocytes; [5] no spermatids and numerous primary spermatocytes; [6] no mature spermatids and few round immature spermatids; [7] no mature spermatids and numerous round immature spermatids; [8] < 20 mature spermatids/tubules, germinal epithelium height < 80 microns and spermiation absent; [9] > 20 mature spermatids/tubules, germinal epithelium height < 80 microns and spermiation rarely < 80 microns; [10] > 20 mature spermatids/tubule and germinal epithelium height 80 microns and spermiation common. Seminiferous tubule spermatogenesis was catagorized by 5-Grade scale as follows: [1] tubular sclerosis; [2] sertoli cell only; [3] arrested spermatogenesis; [4] reduced spermatogenesis; [5] intact spermatogenesis.</p><p><b>RESULTS</b>In terms of the 10-score scale on testicular biopsy, scores of 1, 2, 3, 4, 5, 6, 7, 8, 9 and 10 corresponded with total patient numbers of 5 (4.5%), 38(33.9%), 2(1.8%), 6(5.4%), 2(1.8%), 17(15.2%), 6(5.4%), 19(17%), 10(8.9%) and 7(6.3%), respectively. According to the 5-Grade scale on the seminiferous tubule spermatogenesis, Grades 1, 2, 3, 4 and 5 corresponded with 5(4.5%), 38(33.9%), 33(29.5%), 29(25.9%) and 7 (6.3%), respectively. Tubular diameter, the thickness of the lamina propria, the height of the germinal epithelium and serum FSH correlated with the average seminiferous tubule scores (P < 0.01).</p><p><b>CONCLUSION</b>The seminiferous tubule scores obtained through testicular biopsy may provide important quantitative information concerning the etiology and pathogenesis and of azoospermia may serve as a helpful guide to the fundamental, clinical and therapeutical study of element, clinic and therapy.</p>

Clinical efficacy and patient satisfaction with penile prosthesis implantation for the treatment of severe erectile dysfunction / 北京大学学报(医学版)

Objective:To investigate the clinical efficacy and patient and partner's satisfaction with penile prosthesis implantation(PPI) for treating Chinese patients with severe erectile dysfunction(SED).Methods:One hundred and sixty-eight SED patients were successfully treated by PPI from July 2000 to June 2010.Of the 146(86.9%) patients who had been followed up over 6 months post-operation,36(24.7%) had been implanted with one piece malleable prosthesis(AMS650) and 110(75.3%) with three piece inflatable prosthesis(AMS700CXM).All the patients had been followed up by using international index of erectile dysfunction(IIEF5),Quality of Life Score(QOL) for evaluating clinical efficacy and using Visual Analogue Scale(VAS) for evaluating patient and partner's satisfaction and the duration of the follow-up was 6 to 119 months.Results:The mean age of patients was 35.9?12.1 years(20 to 75 years),All the operations were successful and sexual intercourse with PPI was performed post 4 to 6 weeks without severe complications like infection and erosion.The prosthesis survive rate and frequent sexual intercourse rate were 98.6% and 87.7% respectively.IIEF5 scores pre and post PPI were 6.3?1.7 and 21.3?1.6 respectively,the QOL scores pre and post PPI were 5.1?0.9 and 1.5?0.5 respectively,and both of them showed significant improvement(P

Corpus cavernosum-corpus spongiosum shunt plus intracavernous tunneling for the treatment of prolonged ischemic priapism / 北京大学学报(医学版)

0.05).On 1,3 and 5 days after the operation,the PHS and PVAS of Group B decreased significantly than those of Group A(P