Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population

Objective

To report the cytogenetic and molecular genetic analysis of the first two cases of non-chimerism and chimerism karyotype in Chinese male patients who suffer from azoospermia, which may be caused by pseudo dicentric Y chromosomes.

Design

Case study.

Setting

Academic reproductive medicine center.

Patients

Two male patients with azoospermia, carrying pseudo dicentric Y chromosome.

Interventions

Review the records of inquiry, testicular biopsy, pathological examination, semen routine examination, endocrine evaluation, cytogenetic chromosomal analysis, and FISH detection of peripheral blood to evaluate Y chromosome deletion.

Main outcome measures

To investigate the possible association among pseudo dicentric Y, chimeric status and azoospermia.

Results

Two patients were both diagnosed with azoospermia by a variety of andrology inspections. Further chromosomal analysis and FISH indicated their pseudo dicentric Y chromosome and different chimerism status. PCR confirmed simultaneous deletions of AZFb and AZFc regions in the Y chromosome of both patients.

Conclusions

Pseudodicentric Y chromosome affecting the long arm may lead to a male phenotype by duplicating the sex-determining region of Y chromosome (SRY) fragment and chimeric status may further impact patient's hormone levels, which obstruct spermatogenesis. However, the deletion of the azoospermia factor (AZF) is likely the key factor that causes azoospermia.     

Outcome of laparoscopic colectomy for cancer in elderly patients

Background

Resection for colon cancer in the elderly is a major undertaking. However, data on the outcome and survival of elderly patients who underwent laparoscopic resection for colon cancer are limited. This study of patients older than 75 years compared outcome and survival between those who underwent laparoscopic resection and those who had open resection for colorectal cancer.

Methods

From 2000 to 2009, 434 patients ages 75 years and older who underwent elective resection for colon cancer were included in the study. Patients who had rectal cancer or had undergone emergency operations were excluded. Preoperative diagnosis was determined by colonoscopy, and computed tomography scan was performed for preoperative staging. Data on the patients’ demographics, operative details, pathology results, postoperative results, and survival were collected prospectively. The patients who underwent laparoscopic surgery were compared with those who had open surgery.

Results

The study included 434 patients (210 men) with a median age of 80 years (range 75–95 years). Of these 434 patients, 189 underwent laparoscopic resection. Nine patients (4.8 %) required conversion to open operation. The patients did not differ in terms of age, gender, incidence of medical comorbidities, or stage of disease. The median operating time was longer in the laparoscopic group, but the blood loss was significantly less. Laparoscopic resection was associated with a lower mortality rate and a shorter hospital stay (p < 0.05). The open resection group had significantly more cardiac complications (p < 0.05). The overall 5-year survival rates were similar between the patients who had laparoscopic resections and those who had open surgery.

Conclusions

For patients older than 75 years, laparoscopic resection of colon is associated with less intraoperative blood loss, a shorter hospital stay, fewer cardiac complication, and a lower mortality rate than open resection. Therefore, the authors recommend laparoscopic resection of colon cancer as the treatment of choice for elderly patients.     

紫外线致皮肤光老化及光癌变机制的研究进展

日光的累计照射可加速皮肤老化与癌变,使皮肤的生物学及临床反应发生改变,包括急性损伤(日晒伤)和慢性损伤(光老化、光癌变或色素沉着等)。文章概述了近年来紫外线对皮肤光老化及光癌变影响的研究进展,揭示光老化和光致癌机制是通过紫外线照射产生活性氧和DNA损伤,以及由此引起的细胞损伤、炎症、免疫抑制、细胞外基质重塑及血管生成改变所致,为临床防治光老化和光癌变提供帮助。     

腹腔镜结直肠癌手术中转开腹列线图预测模型的构建

目的分析腹腔镜结直肠癌手术发生中转开腹的危险因素,建立列线图预测模型指导临床决策,并分析其短期预后影响。方法收集2017年5月至2020年5月西安交通大学第一附属医院行腹腔镜手术的764例结直肠癌患者的病例资料,分为中转开腹组(60例)及腹腔镜组(704例)。采用Logistic回归分析中转开腹的独立危险因素,并用R语言构建中转开腹列线图预测模型。通过受试者工作特征曲线(ROC)下面积评估列线图预测模型效能。通过绘制校准图进行一致性检验。并比较两组患者术中及术后恢复情况。结果本研究共纳入患者764例,其中60例发生中转开腹,中转开腹率为7.9%(60/764)。肿瘤位置位于直肠[比值比(OR)=1.846,P<0.05)]、美国麻醉医生协会(ASA)评分Ⅲ、Ⅳ级(OR=2.381,P<0.05)、腹部手术史(OR=3.652,P<0.01)、肿瘤长径≥5 cm(OR=2.704,P<0.05)和体重指数(OR=1.109,P<0.05)是发生中转开腹的独立危险因素,上述数据差异均有统计学意义。成功构建列线图预测模型,模型ROC曲线下面积为0.794。校正曲线显示预测结果与实际结果有较好的重合度。中转开腹组手术时间高于腹腔镜组(210 min比190 min,Z=-2.670,P<0.05);中转开腹组出血量高于腹腔镜组(170 ml比120 ml,Z=-6.018,P<0.01);中转开腹组术后住院天数高于腹腔镜组(10 d比9 d,Z=-2.134,P<0.05)。中转开腹组肠梗阻发生率高于腹腔镜组[10.0%(6/60)比4.3%(15/704),χ²=4.055,P<0.05];伤口感染率高于腹腔镜组[15.0%(9/60)比4.7%(33/704),χ²=11.318,P<0.05],上述数据差异均有统计学意义。结论肿瘤位置位于直肠、ASA评分Ⅲ、Ⅳ级、腹部手术史、肿瘤长径≥5 cm和体重指数是腹腔镜结直肠癌手术发生中转开腹的独立危险因素,据此建立的预测模型具有可靠的预测能力。     

四磨汤口服液对脾虚便秘小鼠肠黏膜结构的影响

目的探讨四磨汤口服液对脾虚便秘小鼠肠黏膜结构损伤的修复作用。方法通过灌胃番泻叶水煎液7 d,控制饮食、饥饱失常8 d建立小鼠脾虚便秘模型,造模成功后,治疗组给予四磨汤口服液灌胃,治疗5 d,模型组和正常组给予等量无菌水灌胃,取肠道组织进行病理切片观察。结果四磨汤能修复损伤的空肠、回肠黏膜结构,减轻炎症细胞浸润,且能增加盲肠的杯状细胞数目。结论四磨汤口服液治疗脾虚便秘,其作用可能与修复小鼠肠黏膜结构相关。     

高原鼠兔红细胞2,3—二磷酸甘油酸含量的测定

本文采用紫外分光光度法对马多地区（4280m）民兔及Wistar大景全血及红细胞2，3—二磷酸甘油酸含量进行了规定，同时作血气分析及其他指标测定，结果发现鼠兔组全血2，3—DPG含量（2．45±0.39nmol／L）明显低于大鼠组（3．38±0．93nmol／L）（P＜0．05），红细胞2，3－DPG含量（4.85±0.54nmol／L）也明显低于大鼠组（5．83±1．23nmol／L），（P＜0．05），鼠兔组P50为3．27±0．01kPa，大鼠组P50为3．53±0.01kPa，提示鼠兔氧解离曲线左移，显示了对低氧环境的杰出适应。     

Nd：YAG激光治疗复发性鼻咽癌

鼻咽癌经放疗、化疗后未控或复发，目前尚无特殊治疗。我们自１９８８年迄今，用ＮｄＹＡＧ激光治疗２０例，全部病人得到随访，除５例死亡、４例未控外，其余病例均尚健在，４例随访已超过５年，效果满意。     

Treatment of chronic subdural hematoma by novel YL-1 hollow needle aspiration drainage system (697 cases report)

It is written to discuss the effect and syndromes of novel YL-1 hollow needle aspiration drainage system to treat chronic subdural hematoma. Collecting clinical data about 697 patients with chronic subdural hematoma in neurosurgery of People’ Hospital in North Jiangsu from January 2004 to December 2014, including clinical manifestation, imaging data, operation time, postoperative complications and prognostic factors and so on. 593 patients got cured, 53 patients with recurrence, 19 patients with acute subdural hematoma, 13 patients with poor drainage, 9 case of patients with acute epidural hematoma, puncture failure in 6 cases, 3 cases of pulmonary infection, one got intracranial hemorrhage (brain stem and basal ganglia hemorrhage). The total time of the operation is 15–28 min, the mean time is 18 ± 3.6 min, the average retention time of novel YL-1 hollow needle aspiration drainage system was 2.6 ± 1.3 days, the average use of urokinase was 30,000 ± 2.10,000 units. It takes a short time for novel YL-1 hollow needle aspiration drainage system to treat chronic subdural hematoma without any syndromes like brain tissue injury, tension pneumocrania, intracranial infection and so on. The clinical cure rate is 85.08 %, recurrence rate is 7.6 %. Using novel YL-1 hollow needle aspiration drainage system to treat chronic subdural hematoma is such a minimally invasive surgical technology which has a higher curative rate, small damage, is also easy to operate with security and less severe complications.     

Roles of mGluR5 in synaptic function and plasticity of the mouse thalamocortical pathway

The group I metabotropic glutamate receptor 5 (mGluR5) has been implicated in the development of cortical sensory maps. However, its precise roles in the synaptic function and plasticity of thalamocortical (TC) connections remain unknown. Here we first show that in mGluR5 knockout (KO) mice bred onto a C57BL6 background cytoarchitectonic differentiation into barrels is missing, but the representations for large whiskers are identifiable as clusters of TC afferents. The altered dendritic morphology of cortical layer IV spiny stellate neurons in mGluR5 KO mice implicates a role for mGluR5 in the dendritic morphogenesis of excitatory neurons. Next, in vivo single-unit recordings of whisker-evoked activity in mGluR5 KO adults demonstrated a preserved topographical organization of the whisker representation, but a significantly diminished temporal discrimination of center to surround whiskers in the responses of individual neurons. To evaluate synaptic function at TC synapses in mGluR5 KO mice, whole-cell voltage-clamp recording was conducted in acute TC brain slices prepared from postnatal day 4–11 mice. At mGluR5 KO TC synapses, N -methyl- d -aspartate (NMDA) currents decayed faster and synaptic strength was more easily reduced, but more difficult to strengthen by Hebbian-type pairing protocols, despite a normal developmental increase in α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR)-mediated currents and presynaptic function. We have therefore demonstrated that mGluR5 is required for synaptic function/plasticity at TC synapses as barrels are forming, and we propose that these functional alterations at the TC synapse are the basis of the abnormal anatomical and functional development of the somatosensory cortex in the mGluR5 KO mouse.     

网络环境下的体育教学模式与应用

现代教育技术、多媒体技术与网络技术的飞速发展以及三者的相互结合,对体育教学产生了重要影响。网络环境下的体育教学模式及应用,将成为传统。因此,构建并应用网络体育教学模式,对于弥补传统体育教学的不足、提高高校体育教学质量、促进学生健康发展具有重要意义。