Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population

Purpose

To investigate the effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the South Chinese population.

Methods

In this study, the prevalence and characteristics of different DAZ copy cluster deletions and their association with spermatogenic failure were analyzed. A total of 186 infertile men with different spermatogenic impairments and 190 normozoospermic fertile men were studied. Three DAZ-specific single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined using polymerase chain reaction (PCR)–restriction fragment length polymorphism and routine PCR.

Results

Gr/gr deletions were observed in a total of 9 of the 190 normozoospermic fertile men, and 11 gr/gr deletions were found in 186 infertile men. In addition, 3 b2/b3 deletions were identified in the infertile, but not in the fertile men. DAZ-SNV loci analysis revealed 4 DAZ copies that had 8 gr/gr-DAZ3/DAZ4 deletions and 1 gr/gr-DAZ1/DAZ2 deletion in the fertile men (8/190 vs. 1/190, p = 0.037). Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0.011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0.002).

Conclusions

Analysis of DAZ gene copies in AZFc microdeletions suggests that the contribution of the different deletions to male infertility varies. Removing DAZ1/DAZ2 seems to be associated with spermatogenic impairment, whereas removing DAZ3/DAZ4 seems to have little or no effect on fertility in the South Chinese population.     

Monosodium iodoacetate induces apoptosis via the mitochondrial pathway involving ROS production and caspase activation in rat chondrocytes in vitro

Monosodium iodoacetate (MIA) is an inhibitor of glyceraldehyde‐3‐phosphate dehydrogenase activity, and causes dose‐dependent cartilage degradation resembling the pathological changes of human osteoarthritis (OA). In this study, we assessed the apoptosis induced by MIA and clarified the underlying mechanisms using the primary rat chondrocytes. The apoptosis of primary rat chondrocytes was analyzed by flow cytometry. The levels of mitochondrial membrane potential (ΔΨm) were evaluated using fluorescence spectrophotometer. The production of reactive oxygen species (ROS) was determined by fluorescence spectrophotometer. Apoptosis‐related protein cytochrome c and procaspase‐3 expressions were examined by Western blotting. We found that MIA treatment induces apoptosis in chondrocytes, as confirmed by increases in the percent of apoptotic cells, up‐regulation of cytochrome c and caspase‐3 protein levels. Treatment with MIA increases ROS production and decreases the levels of ΔΨm. The antioxidant, N‐acetylcysteine (NAC), significantly prevented the production of ROS, the reduction of ΔΨm, the release of cytochrome c and the activation of caspase‐3. Further, NAC completely protected the cells from MIA‐induced apoptosis. Together these observations suggest that the mechanisms of MIA‐induced apoptosis are primarily via ROS production and mitochondria‐mediated caspase‐3 activation in primary rat chondrocytes. © 2012 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 31: 364–369, 2013     

Axillary arteriovenous fistula after axillary plexus block

This report presents the case of a 51-year-old man who had an axillary arteriovenous fistula (AVF) as a complication of an axillary plexus block that was performed for internal fixation for a right forefinger phalanx fracture 4 years previously. While performing the axillary plexus block, a 22-gauge needle was placed inside the axillary sheath by observing the pulsations of the axillary artery. A pulsatile mass was found in the right axilla 1 day after the block was performed. Apart from this soft mass, the patient had no symptoms of vascular nerve damage. As the mass gradually increased in size, it became painful. During the past 3 months, in particular, the patient experienced repeated attacks of intermittent sharp pain and requested surgery. Digital subtraction angiography, performed 4 years after the axillary block, showed a tumor-like dilation was developing in both the right axillary artery and vein, almost simultaneously. Thus, the diagnosis of AVF was confirmed. The false aneurysm sac was excised and lateral repair of the axillary artery and vein was carried out under general anesthesia. Postoperative recovery was uneventful. The possible occurrence of an AVF after axillary plexus block should be kept in mind, because early diagnosis and treatment are necessary to avoid development of AVF and false aneurysm.     

The Clearance of High-Risk Human Papillomavirus is Sooner After Thin Loop Electrosurgical Excision Procedure (t-LEEP)

Abstract

Purpose/aim of the study: To investigate high-risk human papillomavirus (HPV) infection clearance following thin loop electrosurgical excision procedure (t-LEEP) among patients with cervical benign lesion. Materials and Methods: This retrospective study analyzed clinical data from patients with cervical benign lesion and HPV infection, who had undergone t-LEEP (T-Group), compared with patients with HPV infection undergone no treatment (NT-Group). Both groups attended regular follow-up between January 2008 and January 2012. Kaplan–Meier analysis was used to compare the HPV clearance time. Results: The average clearance time was 7.7?months (M) (95% confidence interval [CI]: 6.5–8.9 M) in T-Group, and 10.4?M (95%CI: 9.4–11.3 M) in NT-Group, with significant difference between groups (p?=?0.003). Among patients with low viral load, the HPV clearance times were 7.6?M (95%CI: 6.3–9.0 M) in T-Group and 9.7?M (95%CI: 8.6–10.8 M) in NT-Group (p?=?0.042). Among patients with high viral load, the HPV clearance times were 8.0?M (95%CI: 5.3–10.6 M) in T-Group and 11.4?M (95%CI: 9.7–13.1 M) in NT-Group (p?=?0.041). The average time of HPV clearance in T-Group was shorter than NT-Group in all age groups, with significant differences in ≤29Y-group (p?=?0.008) and 30–39Y-group (p?=?0.005). The accumulated clearance rate of HPV infection at sixth month and 12th month were 24.5% and 67.9% in T-Group, 7.8% and 43.1% in NT-Group, with significant differences (p?=?0.001 at 6th month, p?=?0.032 at 12th month). Conclusions: T-LEEP accelerates the clearance of high-risk HPV infection and make the HPV infection rates dropped rapidly in the first year.     

Age trends of bone mineral density and percentile curves in healthy Chinese children and adolescents

The clinical utility of dual-energy X-ray absorptiometry (DXA) measurement requires appropriate normative values, designed to be diverse with respect to age, gender and ethnic background. The purpose of this study was to generate age-related trends for bone density in Chinese children and adolescents, and to establish a gender-specific reference database. A total of 1,541 Chinese children and adolescents aged from 5 to 19-years were recruited from southern China. Bone mineral density (BMD), bone mineral content (BMC), and bone area (BA) were measured for the total body (TB) and total body less head (TBLH). The height-for-age, height-for-BA, and BMC-for-BA percentile curves were developed using the least mean square method. TB BMD and TBLH BMD were highly correlated. After 18 years, TB BMD was significantly higher in boys than girls. For TB BMC and TBLH BMC, gender differences were found in age groups 12 years and 16–19 years; however, the TBLH BMD was significantly different between genders >16 years. The head region accounted for 13–52 and 16–49 % of the TB BMC in boys and girls, respectively. Furthermore, the percentages were negatively correlated with age and height. This study describes a gender-specific reference database for Chinese children and adolescents aged 5–19 years. These normative values could be used for clinical assessment in this population.     

胃小细胞癌41例临床病理特征与预后相关性分析

目的 探讨胃小细胞癌(SCC)的临床病理特征和影响其预后的因素.方法 回顾性分析2000年1月至2012年1月间41例胃SCC患者的临床病理及随访资料.男性35例,女性6例;确诊年龄39 ～ 84岁,中位年龄62岁;胃上部病变31例(75.6％),胃中部3例(7.3％),胃下部7例(17.1％).结果 41例胃SCC患者出现不适症状至最终确诊的时间间隔1～13个月,中位时间为3个月;肿瘤最大径2.5～15.0 cm,平均6.5 cm;38例(92.7％)以手术为初始治疗方案,其中25例(61.0％)行根治性肿瘤切除术,13例(31.7％)行姑息性手术,3例(7.3％)仅行化疗.初始的Ⅱ、Ⅲ、Ⅳ期患者分别为2、31和8例.所有患者的中位生存期为19个月,中位无病生存期11个月,1、2、5年生存率分别为70.7％、46.3％和36.6％.患者的总体生存期与肿瘤最大径(x2=5.565)、体重变化(x2=3.688)、手术的根治程度(x2=11.747)以及是否复发(x2=17.966)有关(P＜0.05).结论 胃SCC是胃恶性肿瘤中的罕见病理类型,临床误诊率较高,其病情进展迅速且预后较差,根治性手术切除肿瘤可以显著提高患者的生存期,以手术为主的综合治疗仍是胃SCC的主要治疗手段.     

Awake language mapping and 3-Tesla intraoperative MRI-guided volumetric resection for gliomas in language areas

The use of both awake surgery and intraoperative MRI (iMRI) has been reported to optimize the maximal safe resection of gliomas. However, there has been little research into combining these two demanding procedures. We report our unique experience with, and methodology of, awake surgery in a movable iMRI system, and we quantitatively evaluate the contribution of the combination on the extent of resection (EOR) and functional outcome of patients with gliomas involving language areas. From March 2011 to November 2011, 30 consecutive patients who underwent awake surgery with iMRI guidance were prospectively investigated. The EOR was assessed by volumetric analysis. Language assessment was conducted before surgery and 1 week, 1 month, 3 months and 6 months after surgery using the Aphasia Battery of Chinese. Awake language mapping integrated with 3.0 Tesla iMRI was safely performed for all patients. An additional resection was conducted in 11 of 30 patients (36.7%) after iMRI. The median EOR significantly increased from 92.5% (range, 75.1–97.0%) to 100% (range, 92.6–100%) as a result of iMRI (p < 0.01). Gross total resection was achieved in 18 patients (60.0%), and in seven of those patients (23.3%), the gross total resection could be attributed to iMRI. A total of 12 patients (40.0%) suffered from transient language deficits; however, only one (3.3%) patient developed a permanent deficit. This study demonstrates the potential utility of combining awake craniotomy with iMRI; it is safe and reliable to perform awake surgery using a movable iMRI.     

神经内镜手术治疗脑室内肿瘤

目的探讨神经内镜手术治疗脑室内肿瘤的临床疗效及经验.方法回顾性分析16例经神经内镜手术治疗的脑室内肿瘤的临床资料,其中肿瘤单纯位于侧脑室8例,第三脑室6例,同时位于侧脑室和第三脑室2例.结果肿瘤全切除4例,部分切除8例,囊性颅咽管瘤经囊腔内置Ommaya管术后囊腔明显缩小4例.术后根据病理检查对部分病例进行放射治疗.均无明显手术并发症.随访2～36个月,平均15.7个月,无死亡病例,第三脑室内生殖细胞瘤复发1例,第三脑室内囊性颅咽管瘤囊腔扩大1例.结论神经内镜手术治疗脑室内肿瘤具有微创、手术视野好、并发症少等优点,是一种有效的诊疗手段.