BACKGROUND:Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed. METHODS:We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S. RESULTS:A 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S. CONCLUSION:Our case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.

目的 探讨不同法则对早期子宫内膜癌淋巴结转移风险的评估价值,以评价最优法则.方法 选取首都医科大学附属北京妇产医院2019年1月至2022年10月收治的158例子宫内膜癌患者,基于内膜活检病理和增强MRI检查,应用改良Mayo法则(病灶长径界值为2cm)及其调整法则(病灶长径界值为3、5cm)进行术前淋巴结转移风险分层,最终比较规范手术的病理分期.另外,应用ESMO及GOG-99法则,基于手术病理结果进行淋巴结转移风险分层并进行比较分析.结果 基于改良Mayo法则判定,158例患者中低危组90例,高危组68例.与手术病理结果进行比较发现,低危组有8例术后升级为高危,其中6例G3、2例ⅠB期;高危组有25例术后降级为低危,主要为宫腔肿瘤病灶长径＞2cm,但没有肌层浸润或浅肌层浸润,1例为术前外院增强MRI提示肌层浸润＞1/2,术后证实为浅肌层浸润.术前淋巴结转移风险评估的敏感度为76.6％、特异度为84.3％,阳性预测值(positive predictive value,PPV)为91.1％、阴性预测值(negative predictive value,NPV)为63.2％,将57.0％(90例)患者划为低风险人群.若将肿瘤病灶长径界值调整为3cm,淋巴结转移风险评估的敏感度为84.8％、特异度为89.1％,PPV为95.0％、NPV为70.7％,将63.3％(100例)患者划为低风险人群.若将肿瘤病灶长径界值调整为5cm,其特异度下降明显.本研究共发现36例淋巴脉管间隙浸润(lymphovascular space invasion,LVSI)阳性患者,占比为22.8％,其中ⅠA期17例(12.5％)、ⅠB期9例(75％)、Ⅱ期6例(100％)、ⅢC1期1例(100％)、ⅢC2期3例(100％).纳入LVSI指标的ESMO及GOG-99法则均为基于手术病理结果进行淋巴结转移风险分层,二者均准确预测了淋巴结转移患者.ESMO法则将55.0％(87例)患者划分为低危,其预测淋巴结转移的敏感度为100.0％、特异度为56.5％、假阳性率为43.5％、NPV为100％.GOG-99法则将80.4％(127例)患者划分为低危,其预测淋巴结转移的敏感度为100.0％、特异度为82.5％、假阳性率为17.5％、NPV为100％.相比ESMO法则,GOG-99法则使25.4％(40例)的患者避免了淋巴结清扫,并使假阳性率降低了26％.结论 采用经典的改良Mayo法则,将肿瘤病灶长径界值提升到3cm时,预期可获得更优的检测结果.采用ESMO及GOG-99法则时,摒弃肿瘤病灶长径指标,纳入更有检测效力的LVSI,并依据手术病理结果进行风险分层,可明显提升低危人群获益的比例,且具有更好的检测效果,尤其是GOG-99法则最具前景,值得进一步临床应用.

目的 探讨宫腔镜联合磁共振成像(magnetic resonance imaging,MRI)在术前对子宫内膜癌淋巴结转移进行风险分层的准确性,以进一步指导手术方案的制订.方法 本研究为前瞻性研究.选取2019年1月至2022年10月首都医科大学附属北京妇产医院收治的早期子宫内膜癌患者为研究对象,以系统手术的病理结果为金标准,分析宫腔镜诊刮病理联合MRI对早期子宫内膜癌淋巴结转移高危因素及风险分层的评估价值,同时探讨了前哨淋巴结(sentinel lymph node,SLN)检测淋巴结转移的准确性.结果 共158例患者纳入本研究.宫腔镜诊刮病理类型诊断的准确率为98.7％,组织学分级诊断的准确率为81.6％.MRI评估子宫肌层浸润的敏感度为99.1％,特异度为96.0％,评估宫颈间质受累的准确率为100％,1例宫颈黏膜受累未检出.宫腔镜联合MRI评估淋巴结转移风险的敏感度、特异度、阳性预测值、阴性预测值分别为87.2％、81.9％、85.2％、84.2％,87.2％,可将55.7％的患者划分为淋巴结转移低风险人群.SLN成功检出全部盆腔淋巴结转移,但未能检出腹主动脉旁淋巴结转移.结论 宫腔镜联合MRI评估子宫内膜癌淋巴结转移风险的准确性高,可将55.7％的患者划为低风险人群,使其免于淋巴结切除;联合SLN检测有望进一步提高淋巴结转移风险评估的准确性.

OBJECTIVES:We aimed to investigate the clinical features of Takayasu arteritis with cerebral infarction, and the risk factors for cerebral infarction.METHODS:The study analysed 122 consecutive patients with Takayasu arteritis retrospectively. The clinical characteristics of Takayasu arteritis patients with and without cerebral infarction were compared. Binary logistic regression analysis was performed to determine risk factors for cerebral infarction in Takayasu arteritis patients.RESULTS:Cerebral infarction was present in 42 (34.4%) of 122 patients with Takayasu arteritis. There were 33 patients with ischaemic stroke and 11 with asymptomatic lacunar infarction, including two patients with both types of infarction. The cerebral infarction group had a significantly higher proportion of males, higher prevalence of blurred vision, and higher Indian Takayasu Clinical Activity Score (ITAS) 2010 than the non-cerebral infarction group. Binary logistic regression analysis indicated that hyperlipidaemia [odds ratio (OR) 5.549, P=0.021], ITAS 2010 (OR 1.123, P= 0.023), number of involved arteries (OR 1.307, P=0.018), and middle cerebral artery (MCA) involvement (OR 4.013, P=0.029) were significantly associated with cerebral infarction in patients with Takayasu arteritis. Receiver operating characteristic curves indicated fair performance of the ITAS 2010 (>6) and number of involved arteries (> 7) for distinguishing Takayasu arteritis patients at risk of cerebral infarction from those without such risk.CONCLUSION:Hyperlipidaemia, higher ITAS 2010, larger number of involved arteries, and MCA involvement are independent risk factors for cerebral infarction in Takayasu arteritis patients.

目的 构建卵巢癌人源肿瘤异种移植(PDX)模型,为卵巢癌研究及个体化治疗提供实验模型.方法 收集2017年7月至2018年7月首都医科大学附属北京妇产医院10例卵巢癌患者的新鲜手术切除标本(P0代),将其接种于30只非肥胖糖尿病/重症联合免疫缺陷(NOD/SCID)小鼠,一份肿瘤组织样本接种3只NOD/SCID小鼠腋背部皮下.接种后监测肿瘤生长,并进行肿瘤传代移植(P1～4代共150只).传代结束后对移植肿瘤组织的病理及免疫组织化学染色进行分析,验证模型构建情况.结果 4例患者的标本接种成功,成功率为40％.P1～4代小鼠共成功构建卵巢癌模型110只,各代建模成功率分别为26.6％、83.3％、88.3％、80.1％.肿瘤组织接种后小鼠体重下降不明显,7～10 d后体重缓慢增加.肿瘤组织病理可见移植瘤瘤体外观大致呈球形,质地稍硬,包膜多完整,表面可见血管纹理,剖开后切面呈乳白色,囊实性,部分瘤体内含黏液,部分瘤体内可见液化区.苏木精-伊红染色可见腺腔样结构,腺体大小不一,形态不规则,间质较少,上皮细胞异型性明显,核仁明显,病理性核分裂象多见,与来源人卵巢癌细胞结构及其异型特征基本一致.免疫组织化学染色下雌激素受体、孕激素受体、P53、P16、Ki67、WT1、Pax8均呈阳性表达,而波形蛋白呈现阴性表达,与来源患者肿瘤组织高度一致.结论 本研究构建的卵巢癌PDX模型很好地保留了来源肿瘤的特征,为后续卵巢癌研究及个体化治疗提供了平台.

Background: Autologous hematopoietic stem cell transplantation (AHSCT) may be a promising therapy for patients with aggressive multiple sclerosis (MS) unresponsive to standard treatments, but similar evidence is still limited. To assess the long-term outcomes in patients with aggressive MS receiving AHSCT with an intermediate intensity conditioning. Methods: This prospective single-center cohort study was conducted in consecutive patients with aggressive MS in the wards of Departments of Neurology and Hematology by a multidisciplinary team on aggressive MS in Xuanwu Hospital of Capital Medical University (Beijing, China) from February 1, 2001 to December 30, 2010. 47 consecutive patients were screened, 9 did not meet inclusion criteria, 1 declined the treatment and 1 had disease activity during study pending, 36 volunteer patients enrolled in the study. The last patient visit was on September 26, 2018, and data analysis was performed between October 15, 2018 and March 18, 2019. All patients received AHSCT with the modified BEAM (carmustine, etoposide, cytarabine, and melphalan) with teniposide instead of etoposide, and regularly assessed by the Expanded Disability Status Scale (EDSS) score and annual relapse rate (ARR). Demographic, treatment-related, and disease-related exposures were collected as variables of interest, including gender, age of onset, disease subtype, duration from MS diagnosis to AHSCT, the baseline EDSS score, number of treatments before transplantation, the highest EDSS score before transplantation, and ARR before transplantation. Primary outcomes were long-term progression-free survival and overall survival, and secondary outcomes were any transplant-related morbidity and severe adverse events. Findings: The median follow-up was 12.5 years (range, 3-17 years). And the 3-, 5-, 10-, and 17-year probabilities of progression-free survival as assessed by EDSS score were 81%, 72%, 44%, and 17%, respectively, whereas overall survival rates were 97%, 92%, 78%, and 63%, respectively. Factor associated with neurological progression-free after the transplantation was age of 25-34 year at disease onset (25-34 vs. 1 vs. ≤1: HR, 12.20; 95% CI, 2.21-67.36) were associated with a longer survival time. No transplant-related morbidity or severe adverse events were reported after the transplantation. Interpretation: Our study with the most extended follow-up period supports the importance of treating aggressive MS by AHSCT and revealed that age at disease onset over 25 years and lower ARR were associated with better outcomes. The results suggest that the appropriate choice of MS patients for AHSCT is critical for winning a better outcome. Funding: This study was supported by research grants from the National Natural Science Foundation of China (81771862, 81571633), the Beijing Natural Science Foundation (KZ201710025017), the Beijing Municipal Hospital Research and Development Plan (PX2017069), the Beijing Hundred, Thousand, and Ten Thousand Talents Project (2017-CXYF-09), the National Key R&D Program of China (2017YFC1310001, 2017YFC0907700), and the Beijing Municipal Science and Technology Project (Z171100000117016). Declaration of Interest: Authors declare no conflict of interest. Ethical Approval: The Ethics Committees of Xuanwu Hospital approved this study.

Objective To compare 3 superimposition methods of 3-dimensional facial shells based on 3D surface laser scanner. Methods Twenty-two orthodontic patients were selected in this study. Their cephalometrics and 3D soft facial model were obtained before and after orthodontic treatment. The changes of the points of Pn,Sn,Ls,Li,B'and Pos on the cephalometrics were measured. At the same time,the changes of the above 6 points on 3D facial model were also measured based on 3 different supervision methods. The 3 superimposition methods were point superimposition, partial superimposition and auto superimposition separately. Then the results of 3 superimposition were compared. Results There was no significant changes of Pn,Sn,Ls,Li,B'and Pos among cephalometrics and 3 superimposition methods. There was also no significant difference among 3 superimpositions on 10 facial areas. Conclusion In adults, there was no significant difference among point superimposition,partial superimposition and auto superimposition.

甲氨蝶呤是目前治疗低危妊娠滋养细胞肿瘤的一线药物之一,在取得较好疗效的同时,不良反应也较常见.本文通过查阅国内外相关文献,归纳总结了甲氨蝶呤治疗低危妊娠滋养细胞肿瘤的给药方案及其治疗有效性、安全性和不良反应的防治方法,发现不同患者、不同用药方案导致的不良反应严重程度不同,主要的不良反应包括胃肠道反应、黏膜损害、骨髓抑制以及肝肾损害;当发生不良反应时,可及时采取相应解救措施,降低用药风险,但如何根据每例患者确定最优的化疗方案仍是目前亟须解决的问题.

Objective The purposes of this study were to compare the accuracy of two different facial soft tissue three-dimensional superimposition methods and explore their reliability,hence to find appropriate ways for clinical evaluation.Methods Two different superimpositionmethods (Semi-surface superimposition and Point + region composite registration) were used to register the images acquired at T0 (Immediate),T1 (3 minutes) and T2 (3 days),which were performed twice by two observers.Results The mean register error of semi-surface superimposition and point + region composite registration methods were (0.448 ± 0.074) and (0.516 ± 0.094) mm respectively and there was significant difference between them.Both methods had good reliabilities.Conclusions Both the Semi-surface registration and Point +region composite registration are reliable methods,but the former was more precise.

OBJECTIVE:To set up a three-dimensional(3D)craniofacial cone-beam CT(CBCT)superimposition method based on voxel registration, and evaluate the accuracy and reliability of different reference superimposition areas. METHODS:CBCT scans were taken on a dry skull for three times with a time-interval of two weeks, and CBCT scans were taken on ten adult volunteers twice with a time-interval of one month. The 3D superimposition based on voxel registration was set up by means of Analyze 12.0. The bilateral-zygomatic bone and anterior cranial base were selected as different reference areas for voxel overlapping. The 3D overlapping images were output into Geomagic Qualify 2013, and the surface distances on different craniofacial regions were measured. Three operators repeated three times of these superimposition and measurement. SPSS 19.0 were used to analyze the accuracy and reliability. RESULTS:When bilateral-zygomatic bone used as superimposition reference, the mean surface distance range of dry skull were from 0.035 to 0.064 mm, and volunteers from 0.099 to 0.182 mm. When the anterior cranial base used as superimposition reference, the mean surface distance range of dry skull were from 0.038 to 0.071 mm, and volunteers from 0.127 to 0.218 mm. All these mean values were less than the CBCT voxel size 0.25 mm(P<0.05), and got sub-pixel precision. No significant difference was found between the different operators at different times(P>0.05). CONCLUSIONS:This study showed the high accuracy and reliability of 3D CBCT superimposition based on voxel registration, either the anterior cranial base or the bilateral-zygomatic bone as reference. This method could be used for evaluating 3D craniofacial treatment effects.

Objective To explore the prevalence rate of depression and anxiety disorders in women patients with gynecological tumor before and after operation and the influence factors.Methods Zung Self-Rating Depression Scale and Self-Rating Anxiety Scale were used to evaluate the psychological state of women patients with gynecological tumor before and after operation.A total of 453 in-patients with gynecological tumor were included,who were admitted for cervical conization or abdominal gynecological operation.Results The prevalence rates of depression and anxiety disorder before operation were significantly higher than those after operation among all the patients surveyed;pre-operative prevalence rate of depression disorder in abdominal surgery group of women with malignant gynecological tumor was significantly higher than that of women receiving cervical conization and abdominal surgery group of women with benign gynecological tumor;pre-operative prevalence rate of anxiety disorder among women over 50 years of age was significantly lower;both pre-operative and post-operative prevalence rate of depression disorder and post -operative prevalence rate of anxiety disorder among jobless women patients were significantly higher than that of other groups of women patients;pre-operative and post-operative prevalence rate of depression disorder and anxiety disorder among women patients with low income were significantly higher than those of other groups of women patients.Conclusion Depression disorder is obviously seen in women patients with gynecological tumor before operation,particularly among those with malignant gynecological tumor.Sophisticated psychological counseling and psychological treatment are needed for those patients.

目的 初步探讨年轻女性24个月后面部软组织的变化.方法 选择20 ～ 25岁的年轻女性20人,24个月前后各进行一次面部软组织激光扫描.使用Rapidform XOV软件将20位研究对象2次的面部软组织三维图像进行重叠,得出彩色图像,通过不同颜色显示了24个月后面部软组织的变化.其中绿色、黄色、浅蓝色和浅红色区域为未发生变化的区域,而深蓝色和深红色区域为出现明显变化的区域,蓝色代表负值,红色代表正值.将面部分为眶区、鼻区、唇区、颏区、眶下区、颧区、颊区、腮腺咬肌区、额面区和颞面区.分别记录每个区域的变化情况.结果 65％的受试者(13/20)唇区为深蓝色,45％的受试者(9/20)颏区为深蓝色,25％的受试者(5/20)腮腺咬肌区为深蓝色.结论 20～ 25岁的成人女性,24个月面部的增龄性变化可能主要表现在口唇部软组织变薄.

目的 探讨应用三维头影测量对骨性Ⅲ类错(牙合)畸形患者进行测量的应用条件及方法.方法 对20例骨性Ⅲ类患者施行标准双颌手术(双侧下颌升支矢状劈开术+ LeFort Ⅰ型截骨术+颏成形术).术前术后1周均拍摄CBCT及头颅正侧位片.利用Simplant软件进行三维重建,定义三维头影测量标志点及项目,并进行三维头影测量.同时对二维头影测量片进行二维头影测量.收集共40组二维头影测量及CBCT三维头影测量数据,进行统计学分析.结果 二维头影测量和CBCT三维头影测量结果显示,GoR-Me、GoL-Me、CoL-A、CoR-A、GoL-Gn、CoR-Gn测量值两种测量方法有显著性差异(P＜0.001).结论 三维头影测量不能简单的将二维头影测量的分析方法和标准值机械地复制使用.三维头影测量更为真实地反映了颅颌面的形态,随着标准测量方法的完善和正常人群标准数据库的建立,可以较好地应用于临床.

Objective To study the clinical effect of CO2 laser combined with Baofukang suppository in patients with vaginal intraepithelial neoplasia (VAIN) and high risk of HPV infection. Method A retrospective analysis was per-formed in 140 patients with VAIN + high risk of HPV infection, in which there were 40 cases of VAIN I, 42 cases of VAIN II, and VAIN III in 58 cases;of all patients, 60 cases were randomized into control group, while another 80 cases in study group, and the CO2 laser treatment was administered in both groups, followed by poly cresol sulfonic aldehyde sup-pository in control group while Baofukang suppository in study group. Postoperative HPV, TCT and colposcopy were car-ried out, and the clinical efficacy of the two groups were compared. Result For patients with VAIN I+high risk of HPV infection in the two groups, the cure rates were similar (P>0.05);while those with VAIN II, VAIN III+high risk of HPV infection in study group had higher cure rate than that of the control group (P<0.05). The study group was superior in cure rate of VAIN and HPV than that of control group, respectively. More laser therapy was needed as the VAIN grade ele-vated. And it was found during follow up that the relapse rate of cured patients in control and study group was 15%and 4%, respectively, with no significant difference observed (P>0.05); the VAIN grade in uncured patients remained the same, while deteriorated in some patients. Conclusion CO2 laser combined with Baofukang suppository is fairly effec-tive in the treatment of vaginal intraepithelial neoplasia with high-risk HPV infection, which is a regimen worthy of appli-cation.

Objective To evaluate the awareness and acceptance of human papillomavirus (HPV) vaccination among gynecological oncology outpatients in Beijing. Method We conducted a questionnaire-based survey in a convenience sample of 588 women attending gynecological oncology outpatient clinic in Beijing Obstetrics and Gynecology Hospital. Face to face interviews were carried out. The survey included patients with cervical disease (HPV infection, cervical smear abnormalities, cervical intraepithelial neoplasia, cervical cancer, etc.). Result A total of 579 questionnaires were analyzed (9 of 588 were incomplete), and the mean age of the study subjects was (36.91±10.1) years. Among 579 partici-pants, only 108 (18.7%) had heard of HPV vaccine while the vast majority of respondents (427/579, 73.7%) were willing to receive HPV vaccination. According to the multivariate analysis, awareness of HPV vaccine was significantly associat-ed with women aged less than 30 years and women with college or higher education, and with those come to clinic for cer-vical diseases. HPV vaccines related knowledge in the survey was mainly acquired from the Internet in 40.7%patients. However, more than half (54.9%) of participants preferred to get more information about HPV vaccine from doctors. Con-clusion Our study indicates that, awareness regarding HPV vaccine was poor in gynecological oncology outpatients, but 73.7%were still willing to receive HPV vaccination. And in order to carry out the HPV vaccination program and control the incidence of cervical cancer more efficiently, specific health education from doctors are needed in the future.

目的 探讨女性盆腔结核性包块的临床表现及其诊断方法.方法 回顾分析44例女性盆腔结核患者伴有盆腔包块的临床资料.结果 44例患者平均年龄34.5岁,13例有结核病史或接触史,24例不孕或月经不调,21例患者有腹胀腹痛症状,14例伴有腹水和/或胸水.44例均经剖腹探查,腹腔镜检查或宫、腹腔镜联合探查术明确诊断为盆腔结核.术中探查,44例中有盆腔粘连31例,腹腔粘连28例,其中,盆腹膜病变27例为粘连型,15为渗出型例.20例术中输卵管切除,5例行一侧附件切除,2例行全子宫及附件切除,17例仅取活检,2例因术中肠壁损伤行肠修补术.2例肠瘘患者保守治疗痊愈.术后所有患者转专科医院抗结核治疗.结论 女性盆腔结核性包块患者有不孕或月经不调、腹胀腹痛、腹水等表现,术前诊断困难,剖腹探查或腹腔镜检查是明确诊断的重要手段,但手术有发生肠管损伤的风险.

Objective:To investigate the effects of cervical cold knife conization on the outcome of preg-nancy of patients with cervical intraepithelial neoplasia Ⅲ .Methods :80 women with cervical intraepithelial neoplasia III( CIN III) who having birth demand had underwent cold knife conization (CKC)were studied retrospectively as operation group ;75 healthy women at the same department during the same period were served as control group . The obstetric outcome were compared between the two groups .Follow up was 24 months .Results :① Postoperative pregnancy rate was 35% in less than 6 months group .The pregnancy rate was 69 .2% in more than or equal to 6 months but less than 24 months group(P<0 .05) .Postoperative pregnancy rate in the operation group was not sig-nificantly different compared with control group in 24 months(P>0 .05) .②The risk of preterm delivery in opration group(19 .7% ) was higher than that in control group (5 .8% ) .③ There was significant differences between two groups in rate of preterm delivery (23 .8% vs9 .8% ,P<0 .05) .④But there were not significant differently between two group about the average birth weight in in new-born children (P>0 .05) .Conclusion :Cervical cold knife coniza-tion will affect obstetric outcome .The rate of cesarean section、preterm delivery and cesarean section will be in-creased after operation .And then the interval between operation and pregnancy is best more than 6 month .

目的:探讨女性包块型盆腔结核的临床表现及其诊断方法。方法:回顾分析24例女性盆腔结核患者并伴有盆腔包块的临床资料。结果:患者平均年龄31.2岁,9例有结核病史或接触史,12例不孕或月经不调,14例患者有腹胀腹痛症状,8例有腹水。24例均经剖腹探查或腹腔镜检查明确诊断,其中10例术中输卵管切除,12例取活检,2例切除一侧附件,2例因术中肠壁损伤行肠修补术。术后所有患者转专科医院抗结核治疗,2例肠瘘患者保守治疗痊愈。结论:女性包块型盆腔结核有不孕或月经不调、腹胀腹痛、腹水等表现,术前诊断困难,剖腹探查或腹腔镜检查是明确诊断的重要手段,但手术有发生肠管损伤的风险。