AimsThis study aimed to develop a non-invasive method combining urinary metabolomics and proteomics to identify biomarkers for gastric cancer and to elucidate the molecular mechanisms associated with its progression.MethodsUrine samples from 30 advanced gastric cancer (AGC), 30 early gastric cancer (EGC), and 30 healthy controls (CG) were collected at two centers. Differential metabolites were identified using the UHPLC-MS instrument (VIP>1, FDR<0.05, |log2FC|≥1), and proteins were quantified using the TMT-based proteomics approach (VIP>1, FDR<0.05, |log2FC| ≥ 1.2). Key metabolites were selected via Random Forest and Boruta algorithms, and proteomic findings were validated using TCGA data. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed to explore enriched pathways.ResultsA total of 350 differential metabolites were identified in AGC vs. CG, and 285 in EGC vs. CG, primarily involving amino acid, bile acid, and energy metabolism. Core metabolites such as butyrate, indolelactic acid, D-ribose-5-phosphate, and serine were included in diagnostic models. Proteomic analysis identified 376 differentially abundant proteins in AGC and 191 in EGC, enriched in immune response, cell adhesion, and protein hydrolysis. Key proteins in AGC included TNFRSF12A, ITGB3, HSPA8, and FTL, with significant upregulation or downregulation observed for each. For example, TNFRSF12A was upregulated (p < 0.05), while HSPA8 was downregulated (p < 0.05), and these proteins were linked to pathways such as cell adhesion molecules (CAMs), ECM–receptor interaction, and platelet activation. In EGC, proteins like ITGB3 and FTL were significantly upregulated (p < 0.05), with involvement in pathways such as HIF-1 signaling, glycolysis/gluconeogenesis, and antigen processing/presentation. Integrated analysis revealed 43 significantly enriched KEGG pathways in AGC and 30 in EGC, with notable pathways in amino acid metabolism, the TCA cycle, PI3K-Akt signaling, and immune response pathways. These findings highlight the involvement of cell adhesion, immune response, and metabolic signaling in the pathobiology of gastric cancer.ConclusionThe combination of urinary metabolomics and proteomics enables non-invasive detection of gastric cancer, revealing key biomarkers and pathways with potential clinical diagnostic significance. Further investigation is needed to confirm the diagnostic value of these findings in clinical practice.

Background: Our study examines the relationship between gastroesophageal reflux disease (GERD) and small intestinal bacterial overgrowth (SIBO), focusing on the potential impact of acid-suppressive drugs. We also explore changes in gut microbiota and metabolism in patients with both conditions. Methods: This study included patients from the Department of Gastroenterology, Beijing Shijitan Hospital, between February 2021 and November 2023. All patients underwent assessments including questionnaires, hydrogen and methane breath tests, and gastroscopy. GERD was diagnosed using the GERD-Q scale and gastroscopy, while SIBO was diagnosed via breath tests. We analyzed the correlation between GERD and SIBO, identified risk factors for SIBO, and examined the gut microbiota using 16S rRNA sequencing to explore the relationship between GERD and SIBO. Results: The retrospective study included 394 patients.148 with GERD and 287 with positive SIBO results. Among these, 270 had a positive methane (CH4) breath test and 97 had a positive hydrogen (H2) breath test. GERD was more common in patients with positive SIBO (P = 0.007), and the link between CH4 breath tests and GERD was stronger than that with H2 breath tests (P = 0.020). Logistic regression showed GERD is an independent risk factor for SIBO. Short-term, low-dose acid-suppressive drugs did not affect SIBO development. 16S rRNA sequencing of fecal microbiota from 24 patients showed dominant microbiota in SIBO-positive GERD patients included bacteroides uniformis and bacteroides stercoris. Patients with both GERD and SIBO had differential metabolites, mainly associated with ATP-Binding Cassette transporters (ABC transporters). Conclusion: GERD is strongly linked to SIBO, especially in patients with a positive CH4 breath test. The gut microbiota in GERD and SIBO patients differs from healthy individuals, with bacteroides uniformis as a key marker. Metabolic changes are mainly related to ABC transporter metabolites.

目的 纳入急性胰腺炎(acute pancreatitis,AP)患者入院24 h内简单、易获得的临床指标,构建病情严重程度预测模型并开发网页计算器,以早期预测急性胰腺炎的严重程度,帮助临床及时制定诊疗决策.方法 分析2012 年1 月至2022 年5 月在首都医科大学附属北京世纪坛医院住院的 378 例急性胰腺炎患者的临床资料,根据 2012 年亚特兰大分类标准,将其中 226 例轻症患者作为轻症(mild acute pancreatitis,MAP)组,152 例中重症(moderately severe acute pancreatitis,MSAP)和重症(severe acute pancreatitis,SAP)患者作为非轻症(non-mild acute pancreatitis,NMAP)组,通过单因素及多因素Logistic回归分析,筛选急性胰腺炎严重程度相关的高危因素,并以此构建Logistic回归预测模型,通过受试者工作特征(receiver operating characteristic,ROC)曲线筛选模型预测的临界值,计算灵敏度、特异度评价模型预测的真实性,计算Kappa中评价模型预测结果与实际结果的一致性.结果 本研究共纳入 378 例AP患者,其中男性 252 例(66.7％),女性 126 例(33.3％),其中MSAP 136 例,SAP 16 例.单因素分析发现年龄、糖尿病、高血压病、心率(heart rate,HR)、白细胞(white blood cell,WBC)、红细胞分布宽度(red blood cell distribution width,RDW)、粒细胞/淋巴细胞比值(neutrophils/lymphocyte ratio,NLR)、D-二聚体(D-dimer)、纤维蛋白原(fibrinogen,FIB)、门冬氨酸氨基转移酶(aspartate aminotransferase,AST)、乳酸脱氢酶(lactate dehydrogenase,LDH)、淀粉酶(amylase,AMY)、血糖(blood glucose,Glu)、尿素氮(blood urea nitrogen,BUN)、白蛋白(albumin,ALB)与急性胰腺炎的严重程度相关(P<0.05).将上述因素纳入多因素Logistic回归模型,得出预测模型方程为Y=-9.487+0.363×RDW(％)+0.525×FIB(g/L)+0.086×Glu(mmol/L)+0.417×LDH(U/L)+0.248×AMY(U/L).预测模型的曲线下面积(area under the curve,AUC)为0.825,大于相关指标和急性胰腺炎严重程度床边指数(bedside index of severity in acute pancreatitis,BISAP)评分的AUC.Calibration校准曲线显示列线图在预测NMAP风险与实际发生风险之间具有良好的一致性.临床决策曲线提示在阈概率为 0.4～1.0 时,使用此模型预测识别AP 发展为NMAP并采取相应的治疗措施能使患者在临床中获益.根据约登指数最大点筛选模型预测NMAP 的临界值为 0.321.以临界值≥0.321 预测为NMAP,模型预测的灵敏度=69.5％,特异度=86.2％;Kappa值=0.53,表明模型的预测结果具有一定真实性和与实际结果中度一致性,具有一定临床应用价值,但漏诊率相对较高.结论 基于入院 24 h内简单、易获得的临床指标RDW、FIB、Glu、LDH、AMY构建的预测模型,具有一定早期预测急性胰腺炎的严重程度的作用,但漏诊率相对较高,需要进一步完善.

Esophageal cancer (EC) is one of the most common digestive system malignancies in the world. The combined modality treatment of EC is usually surgery and radiation therapy, however, its clinical efficacy for advanced patients is relatively limited. Ferroptosis, a new type of iron-dependent programmed cell death, is different from apoptosis, necrosis and autophagy. In recent years, many studies have further enlightened that ferroptosis plays an essential role in the occurrence, development and metastasis of tumors. Targeting ferroptosis stimulates a new direction for further exploration of oncologic treatment regimens. Furthermore, ferroptosis has a critical role in the immune microenvironment of tumors. This paper reviews the mechanism of ferroptosis and the ferroptosis research progress in the treatment of EC. We further elaborate the interaction between ferroptosis and immunotherapy, and the related mechanisms of ferroptosis participation in the immunotherapy of EC, so as to provide new directions and ideas for the treatment of EC.

目的 分析首都医科大学附属北京世纪坛医院结肠镜发现的肿块型回肠肿瘤的临床诊治情况.方法 通过电子病历系统检索收集2010年1月至2019年12月在首都医科大学附属北京世纪坛医院住院的、诊治资料完整的、经结肠镜发现的回肠肿瘤患者(肿块型),共5例.收集所有患者的年龄、性别、临床表现、既往史、体征、实验室检查、腹部影像学检查、结肠镜结果、手术和术后病理、其他治疗和随访等,并进行分析.结果 5例患者中,男3例,女2例,年龄28～58岁.腹痛、便血、排气排便减少、大便习惯改变为主要临床表现.4例腹部CT提示小肠-结肠型肠套叠,1例提示回盲部占位、伴肝转移.结肠镜提示:1例于回肠末端见一4 cm×3 cm大小分叶肿物,色稍红,于回盲瓣和小肠内滑进滑出;2例提示结肠肝曲肿物,头端2～4 cm大小,色红,表面黏液附着,可见"长蒂"(小肠绒毛)连接至回盲部,活检病理1例提示非霍奇金淋巴瘤、1例提示炎症;1例提示一累及回盲部和升结肠的巨大肿物,根部可见小肠绒毛样结构,活检病理提示炎症;1例提示回肠末端肿物,约占据1/2管腔,活检病理提示炎症.5例患者均经腹腔镜手术切除肿物,术后病理分别提示脂肪瘤、高级别B细胞淋巴瘤、炎症性肌纤维母细胞瘤、促纤维组织增生性小圆细胞肿瘤和神经纤维瘤.结论 结肠镜发现的肿块型回肠肿瘤临床和内镜表现均无特征性,部分可出现小肠-结肠型肠套叠,腹部CT是重要的术前诊断方法,手术是重要的诊治手段,确诊需手术病理.

目的 探讨胶囊内镜对小肠钩虫病的诊断价值.方法 收集2014年1月至2020年12月首都医科大学附属北京世纪坛医院诊治的小肠钩虫病患者4例,回顾性分析其临床资料,包括一般情况、临床表现、实验室检查、影像学检查、胶囊内镜图像、诊治及转归.结果 4例患者中男3例,平均年龄为67岁.易感因素中3例务农,1例有海南旅居史.3例以消化道出血及贫血为主要临床表现,1例以腹痛来诊.实验室检查中2例粪便检虫卵阳性,且伴有外周血嗜酸性粒细胞增多.4例胃镜及结肠镜检查均未见钩虫虫体.4例均经胶囊内镜见明确钩虫虫体而确诊.经治疗后患者病情均缓解,随访无复发.结论 小肠钩虫病临床表现不典型时诊断困难,不明原因腹痛、消化道出血患者,特别是有流行病学史者需要警惕该疾病.胶囊内镜可作为小肠钩虫病的重要诊断方法.

Background Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and severity in the neonatal or infant period, with only a few developing symptoms after infancy. This report describes a PA patient with an adult-onset phenotype and a novel compound heterozygous mutation in the PCCB gene. To further explore the genotype-phenotype correlations in late-onset PA, we performed a literature review focusing on and summarizing 11 patients with PCC gene mutations who had the first onset and/or the definite diagnosis after infancy. Case presentation A 21-year-old PA patient presented with weakness of four limbs, gait abnormalities, two episodes of seizures, mental and behavior disorders after severe vomiting. Magnetic Resonance Imaging (MRI) demonstrated sustained bilateral caudate head and putamen symmetrical hyperintensity. Biochemical investigations revealed plasma amino and urine values correlating with a PA profile. Genetic analysis confirmed novel compound heterozygous variants in PCCB, with a newly-found pathogenic mutation (c.467T>C) and the c.1316A>G mutation associated with pathogenicity. Conclusion We identified a novel compound heterozygous mutation in the PCCB gene causing late-onset PA. Patients carrying mutations in the PCCB gene tend to develop late-onset PA and present neuropsychiatric symptoms and/or signs. Further molecular biological research is needed to explore the genotype-phenotype correlations of PA.

目的 应用Cre-LoxP技术构建自噬相关基因Eva1a肝细胞条件性敲除小鼠初步探讨Eva1a基因敲除对小鼠表型的影响.方法 LoxP标记的Eva1aflox/+小鼠与Alb-Cre工具鼠通过多次繁殖杂交,构建纯合型肝细胞条件性Eva1a基因敲除(Eva1aflox/flox:Alb-Cre)小鼠模型.选取Eva1aflox/flox:Alb-Cre小鼠与同窝野生(Eva1aflox/flox)小鼠雌雄进行体质量、肝指数、肝脏组织学、肝功能、糖脂代谢以及细胞自噬等表型分析.结果 Eva1a纯合型基因敲除小鼠无胚胎致死现象,出生后一般生理状况良好.常规饲养条件下,肝脏Eva1a基因条件性敲除在小鼠体质量、肝脏外观以及组织结构、肝指数、肝功能、糖脂代谢及自噬等与野生型小鼠差异无统计学意义.结论 肝细胞条件性Eva1a基因敲除对小鼠生理条件下的表型无显著影响,为进一步探讨Eva1 a在肝脏疾病状态下的作用及分子机制提供了动物模型.

目的 基于情景的高仿真模拟方法 (下面统称情景模拟)指挥团队进行心肺复苏(CPR)在急诊住院医师规范化培训二阶段考核中的应用效果评价.方法 选择参加2019、2020年北京市急诊住院医师规范化培训二阶段考核(急诊住院医师培训满5年)的191名急诊科住院医师为研究对象,二阶段考核内容其中一项为情景模拟下考生指挥团队进行CPR.根据研究对象的调查问卷,将其分为临床工作中未曾独立组织CPR抢救组(n=63)和曾经独立组织CPR抢救组(n=128);同时还分为既往未曾接受过情景模拟培训组(n=57)和曾经接受过情景模拟培训组(n=134).分别比较两组心脏骤停(cardiac arrest,CA)之前的病情判断、CA的抢救措施、气道管理、胸外按压(按压深度、按压是否回弹、按压频率)、不间断按压、电除颤(能量选择、除颤位置、除颤时机)、自主呼吸循环恢复(return of spontaneous circulation,ROSC)后的处理、人文关怀、团队合作(领导力)和此项考核的总成绩.结果 未曾独立组织CPR抢救组CA之前的病情判断、CA的抢救措施、间断按压、除颤时机、ROSC后的处理、人文关怀、团队合作(领导力)及考核总成绩均显著低于曾经独立CPR抢救组,差异有统计学意义(P<0.05);而两组气道管理、胸外按压(深度、频率、回弹)、电除颤(能量选择、除颤位置)比较差异无统计学意义(P>0.05).未曾接受培训组CA之前的病情判断、CA的抢救措施、不间断按压、除颤时机、ROSC后的处理、人文关怀、团队合作(领导力)及总成绩均显著低于曾经接受培训组,差异有统计学意义(P<0.05);而两组在气道管理、胸外按压(深度、频率、回弹)、电除颤(能量选择、除颤位置)上差异无统计学意义(P>0.05).结论 应用情景模拟方法 作为急诊住院医师规范化培训二阶段考核方式,可真实地反映出急诊高年资住院医师的临床急救能力与核心能力.开展基于情景的高仿真模拟培训,有利于提升规培医师抢救时的综合能力.

目的 探讨急性生理学和慢性健康状况评分系统Ⅱ(APACHEⅡ)、简化急性生理学评分Ⅱ(SAPSⅡ)评分和序贯性器官功能衰竭评估(SOFA)评分对心脏停搏复苏后自主循环恢复患者预后的评估价值.方法 回顾分析2019年1月至2020年12月首都医科大学附属北京朝阳医院收治的61例心脏停搏复苏后自主循环恢复患者的病历资料,根据复苏后28 d的生存情况分为生存组(33例)和死亡组(28例);根据格拉斯哥-匹兹堡脑功能表现分级评分分为脑功能预后良好组(19例)和脑功能预后不良组(42例).收集复苏后24 h的APACHEⅡ、SAPSⅡ评分及SOFA评分,采用受试者工作特征曲线(ROC)曲线下面积(AUC)和Logistic回归分析评价结果的可预测性.结果 死亡组APACHEⅡ、SAPSⅡ评分及SOFA评分显著高于生存组[(35.3±1.7)分比(21.6±1.5)分、(70.0±2.0)分比(40.2±2.6)分、(10.3±0.5)分比(7.0±0.6)分](P<0.01),脑功能预后不良组APACHEⅡ、SAPSⅡ评分及SOFA评分亦显著高于脑功能预后良好组[(26.9±2.1)分比(17.7±1.6)分、(51.9±3.1)分比(31.6±2.5)分、(8.4±0.6)分比(5.9±0.9)分](P<0.05或P<0.01).ROC曲线分析显示,APACHEⅡ、SAPSⅡ评分及SOFA评分预测患者28 d死亡的AUC分别为0.859、0.949、0.763,预测脑功能预后的AUC分别为0.898、0.927、0.758,APACHEⅡ评分、SAPSⅡ评分对死亡和脑功能预后的预测价值高于SOFA评分(P<0.05).Logistic回归分析显示,APACHEⅡ、SAPSⅡ评分及SOFA评分均是心脏停搏复苏后自主循环恢复患者死亡和脑功能预后的独立危险因素(P<0.05).结论 APACHEⅡ、SAPSⅡ评分及SOFA评分均是心脏停搏复苏后自主循环恢复患者死亡率和脑功能预后的独立危险因素,APACHEⅡ评分和SAPSⅡ评分的预测效果优于SOFA评分.

背景自身免疫性胰腺炎（autoimmune pancreatitis, AIP）是由免疫介导的,以影像学胰腺肿大、组织学淋巴浆细胞浸润伴席纹状纤维化为特征性表现的疾病,发病机制尚不明确,我国的流行病学资料尚不完善,临床表现多无特异性,起病隐匿.因此,总结该病的临床特点及预后情况可对今后的诊治起指导作用.目的旨在总结AIP的临床特征,提高临床医师对该病的认识.方法收集了2011-01/2020-05期间在首都医科大学附属北京世纪坛医院确诊为AIP的患者,共19例,对其进行回顾性分析.结果（1）一般情况:19例患者中男女比例为16:3,平均年龄为（71.0±10.7）岁,均符合1型AIP诊断标准;（2）临床表现:常见的临床症状是梗阻性黄疸,体重下降,血糖升高,纳差乏力,腹胀.合并症最常见为硬化性胆管炎及淋巴结肿大;（3）血清学:16例Ig G4升高,且均大于2倍正常上限; 11例CA199升高,治疗后CAl99下降明显,有统计学意义（P＜0.05）, 11例胆红素系列升高;（4）影像学表现:腹部超声可作为AIP的初筛检查, CT/MRI是重要的影像学方法,典型征象为胰腺弥漫性或局部肿大, EUS典型征象为胰腺弥漫性回声减低,呈网格样改变,周围可见低/无回声带;（5）治疗:16例患者接受糖皮质激素治疗, 2例未经治疗, 1例误诊行外科手术;（6）预后:14例好转, 1例复发, 2例死亡, 2例未经治疗患者,随访至目前病情无变化.结论AIP在临床上属罕见病,且临床表现、血清学指标等均不具有特异性,因而诊断需结合影像学、糖皮质激素诊断性治疗及随访情况等反复验证.

胃黏膜相关淋巴组织淋巴瘤属罕见病，合并早期胃癌则更为罕见。本例早期胃癌发生于胃黏膜相关淋巴组织淋巴瘤的随访过程中，经内镜黏膜下剥离术治愈性切除。

Objective:To investigate the prognostic significance of the lymphovascular invasion (LVI) in patients with upper tract urothelial carcinoma(UTUC) after radical nephoureterectomy (RNU) and Gemcitabine and Cisplatin combination Chemotherapy (GC).Methods:The clinical data of 95 patients with UTUC admitted to Beijing Friendship Hospital, Capital Medical University from March 2013 to March 2019 were analyzed retrospectively. There were 50 males and 45 females; the average age was 63 years, ranged from 36 to 81 years. According to the situation of LVI, they were divided into LVI positive group ( n=25) and LVI negative group ( n=70). Chi-square test was used to analyze the clinicopathological parameters of the two groups of patients. Kaplan-Meier method was used to draw the survival curves of the overall survival (OS) time and recurrence-free survival (RFS) time of the two groups of patients. The difference between the two groups was used Log-Rank test. The risk factors related to OS and RFS were evaluated using univariate and multivariate Cox regression models. Results:All patients were followed up for 2-82 months, with an average follow-up time of 36 months. Among them, 20(21.1%) died and 36(37.9%) relapsed. There were significant differences in T stage ( P=0.046), lymph node metastasis ( P=0.032), and tumor location ( P=0.019) between LVI negative group and LVI negative group. Univariate analysis showed that hydronephrosis ( P=0.026), lymph node metastasis( P=0.001), LVI ( P=0.001), chemotherapy cycle ( P=0.045) were correlated with OS; hydronephrosis ( P=0.031), tumor T stage ( P=0.013), lymph node metastasis ( P=0.004), LVI ( P=0.001) were significantly correlated with RFS. Multivariate analysis showed that hydronephrosis ( P=0.016), lymph node metastasis ( P=0.016), and LVI( P=0.003) were significantly correlated with OS. Lymph node metastasis ( P=0.018), LVI ( P=0.003) were significantly correlated with RFS. In conclusion, LVI was an independent risk factor for OS and RFS. The OS [(40.7±6.5) months for LVI positive group, (68.5±3.2) months for LVI negative group, χ2=15.750, P<0.001] and RFS [(31.0±5.7) months for LVI positive group, (58.0±8.8) months for LVI negative group, χ2=10.986, P=0.001] of patients with LVI positive group were worse than those with LVI negative group, the differences were statistically significant. Conclusions:LVI is more likely to be possitive in patients with high T stage, lymph node metastasis and single renal pelvis cancer, which provides a basis for risk stratification of patients with UTUC. After radical resection and adjuvant chemotherapy, the benefit of OS and RFS in patients with positive LVI was significantly worse than that in patients with negative LVI.

目的 比较根治性经尿道膀胱肿瘤电切术(TURBT)联合吉西他滨+顺铂(GC)方案全身静脉化疗与根治性膀胱切除术(RC)联合GC方案全身静脉化疗治疗T2N0M0～T3N0M0期肌层浸润性膀胱癌(MIBC)的临床疗效和远期生存率.方法 回顾性分析2013年3月至2018年10月我科收治97例T2N0M0～T3N0M0期MIBC患者的临床和随访资料.分为保膀胱组39例,应用TURBT联合GC方案全身静脉辅助化疗保膀胱方案;根治组58例,应用RC联合GC方案全身静脉辅助化疗方案.对比两组患者围手术期相关指标、术后并发症、化疗毒副作用、肿瘤复发、转移及远期生存率等指标.结果 保膀胱组多项围手术期指标优于根治组,术后并发症中肠梗阻及淋巴漏的发生率低于根治组(P<0.05).术后随访时间2～68个月,中位随访时间为34个月.保膀胱组患者1、3、5年的生存率97.4％ 、80.3％ 、54.6％ 与根治组患者1、3、5年的生存率90.1％ 、84.4％ 、52.3％ 相近,差异未见统计学意义(P>0.05).两组患者术后化疗期间出现骨髓抑制、胃肠道反应等现象,经过对症处理后均缓解.结论 根治性TURBT联合GC方案全身辅助化疗保膀胱方案治疗T2N0M0～T3N0M0期MIBC,其远期生存率与RC相比未见明显差异,术后多项远期治疗指标优于根治组,保留了膀胱功能和男性性功能,从而改善其生活质量,各方面都显示了该保膀胱治疗方案的有效性与优越性.

Objective:To explore the risk factors of tumor recurrence after radical nephroureterectomy combined with Gemcitabine and Cisplatin(GC) systemic intravenous chemotherapy for upper tract urothelial carcinoma (UTUC), establish a recurrence risk prediction model, and conduct preliminary verification.Methods:One hundred and one cases of UTUC were analyzed from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University retrospectively. All patients underwent radical nephroureterectomy+ bladder cuff resection, and were treated with GC intravenous adjuvant chemotherapy, among which 19 underwent preoperative neoadjuvant chemotherapy. The study collected general information and clinical characteristics of the patients, and follow up the patient's recurrence. Tumor recurrence and relapse free survival (RFS) were the main observation indexes. The patients were divided into the recurrent group and the non-recurrent group according to their recurrence. Kaplan-Meier and Log-rank methods were used to estimate and compare the RFS rates of the two groups. Univariate difference analysis was used to identify the indicators that were significantly different between patients in the recurrence group and the non-recurrence group, and the COX proportional hazard model was further used to explore the correlation between each factor and the tumor recurrence. According to the weights of relevant risk factors, an individual prognostic index (PI) equation was established, a recurrence prediction model was constructed, and the receiver operating characteristic (ROC) curve was used for verification.Results:One hundred and one patients were followed up for 2-82 months, with median 22 months. 40 patients had recurrence, including 32 in the bladder and 8 in the contralateral upper urinary. One-year RFS was 82.10%, two-year RFS was 68.90% and 5-year RFS was 42.10%. COX proportional risk model results showed that tumor hydronephrosis (X1), lymphovascular invasion (X2) and tumor T stage (X3) were independent risk factors, while neoadjuvant chemotherapy (X4) and chemotherapy cycle (X5) were independent protective factors. Individual PI equation =0.964X1+ 0.688X2+ 0.508X3-1.566 X4-0.675X5. The ROC curve was drawn to show that the optimal pointcut value was 179.5 when the Youden index was 0.537, the sensitivity of the model was 0.750, the specificity was 0.787, and the area under the curve (AUC) was 0.838(95% CI: 0.758-0.918). Conclusions:Hydronephrosis, tumor T stage, lymphovascular invasion, neoadjuvant chemotherapy and chemotherapy cycle are independent factors affecting the recurrence of UTUC patients. The multi-factor risk prediction model is suitable for evaluating the possibility of tumor recurrence after radical surgery combined with GC chemotherapy in UTUC patients, which can provide scientific evidence for the prognosis assessment of patients.

目的 研究功能训练对喉癌术后患者吞咽功能和生活质量影响.方法 回顾性分析120例喉癌患者的临床资料,根据术后康复管理方式分为观察组和对照组,每组60例.对照组患者术后接受常规管理,观察组患者在此基础上联合功能训练.采用吞咽相关生存质量量表(SWAL-QOL)和欧洲癌症研究治疗组织的生活质量核心问卷(EORTC QLQ-C30)评估两组患者吞咽功能和生活质量.结果 术前,两组患者EORTC QLQ-C30评分和SWAL-QOL评分比较,差异均无统计学意义(P﹥0.05).术后2个月,两组患者EORTC QLQ-C30评分和SW-AL-QOL评分均高于本组术前(P﹤0.05);且观察组患者EORTC QLQ-C30评分和SWAL-QOL评分均明显高于对照组患者(P﹤0.01).术后2个月内,两组患者不良反应总发生率比较,差异无统计学意义(P﹥0.05).结论 功能训练可明显改善喉癌术后患者的吞咽功能,提高生活质量.

泌尿系结石是常见的泌尿外科疾病之一,治疗后的高复发率仍旧是困扰泌尿外科医生的重要问题,因此泌尿系结石代谢评估已越来越引起人们重视.代谢组学是系统检测生物样本中代表生物体代谢最终产物的小分子化合物的一门学科.本文就代谢组学数据采集、数据分析以及在泌尿系结石中的动物及临床研究进展做一综述.

目的 探讨对接受根治术的进展期[pT3/T4(N0/N+)]上尿路尿路上皮癌(UTUC)患者应用吉西他滨联合顺铂(GC)辅助化疗的临床疗效及预后的相关因素.方法 回顾性分析2013年1月至2018年8月北京友谊医院泌尿外科收治54例经根治术后病理检查证实为进展期UTUC患者的临床和随访资料,其中男性29例,女性25例;肾盂癌22例,输尿管癌25例,肾盂癌合并输尿管癌7例;原发肿瘤T3期42例,T4期6例,N+期22例.所有患者均行上尿路尿路上皮癌根治性手术,术后均行GC方案辅助化疗.化疗毒副作用按照WHO化疗毒副作用分级标准进行评价.应用Cox比例风险回归模型分析进展期UTUC根治术后行GC方案辅助化疗患者总生存期及肿瘤特异性生存期的影响因素.结果 54例患者共完成134个周期化疗,平均(2.52±0.35)个周期.随访2～75个月,中位随访时间28个月.1年生存率90.74％,2年生存率67.67％,5年生存率58.44％.主要毒副作用为骨髓抑制及消化道反应.血液学毒性反应主要为Ⅰ～Ⅱ度白细胞、血红蛋白、血小板降低.非血液学毒性反应主要为恶心呕吐、发热,均低于Ⅲ度.Cox比例风险模型结果显示化疗周期(HR=3.983,95％CI:1.216～13.049,P=0.022)是进展期UTUC患者总生存期及肿瘤特异性生存期的独立影响因素.结论 对于根治术后接受GC方案化疗的进展期UTUC患者,化疗周期是其总生存期及肿瘤特异性生存期的独立影响因素.GC方案化疗治疗根治术后的进展期UTUC耐受良好、疗效肯定,值得在进展期[pT3/T4(N0/N+)]上尿路尿路上皮癌患者中进一步研究.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene that often results in cognitive impairment, psychiatric disorders, motor dysfunction and seizure. We report familial cases of a novel CSF1R mutation causing HDLS similar to hydrocephalus. The patients initially presented with a gait disturbance and then developed progressive cognitive decline, urinary incontinence, epileptic seizures and became bedridden as the disease progressed. A brain magnetic resonance imaging (MRI) scan revealed striking ventricular enlargement and diffuse brain atrophy with frontotemporal predominance, which was later accompanied by white matter changes. Genetic testing in this family showed a novel c.2552T>C (p.L851P) mutation in exon 19 of the CSF1R gene. However, three gene carriers in the family remained clinically asymptomatic. Because of its heterogeneous clinical phenotypes, HDLS patients are often misdiagnosed with other diseases. This is the first genetically proven HDLS case resembling hydrocephalus, and the clinical symptoms of HDLS may be related to the specific genetic mutation.

1 病例资料 患者男性,53岁.以“间断尿血8个月,加重2个月“于2016年10月8日收入院.患者8个月前无明显诱因出现全程无痛肉眼血尿.2016年8月17日CT示:左肾盂内可疑充盈缺损,考虑占位.膀胱镜检见左输尿管口喷出血性尿液.