Objective:To investigate the predictive value of controlled nutritional status (CONUT) score for overt hepatic encephalopathy (OHE) after transjugular intrahepatic portosys-temic stent-shunt (TIPSS) in Budd-Chiari syndrome patients.Method:The retrospective case-control study was conducted. The clinicopathological data of 48 Budd-Chiari syndrome patients who underwent TIPSS in the First Affiliated Hospital of Zhengzhou University from August 2014 to March 2021 were collected. There were 26 males and 22 females, aged (46±13)years. Observation indicators: (1) surgical situations and follow-up; (2) analysis of influencing factors of OHE after TIPSS; (3) predic-tion of OHE after TIPSS. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was performed using the t test. Measurement data with skewed distribution were represented by M( Q1, Q3), and comparison between groups was performed using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups was performed using the chi-square test or Fisher exact probability. Multivariate analysis was performed using the Logistic regression model with forward method. The receiver operating characteristic (ROC) curve was drawn and the area under the curve (AUC) was calculated to evaluate the efficacy. Comparison among AUC was performed using the Delong test. Results:(1) Surgical situations and follow-up. All 48 patients underwent TIPSS successfully, and the operation time of the 48 patients was (131±29)minutes. All patients were implanted with 8 mm covered stent. All 48 patients were followed up for 46(25,71)months, and there were 14 cases with OHE and 34 cases without OHE after TIPSS. Of the 14 cases with OHE, 12 cases were evaluated as West-Haven Ⅱ grade and 2 cases were evaluated as West-Haven Ⅲ grade. (2) Analysis of influencing factors of OHE after TIPSS. Results of multivariate analysis showed that history of hepatic encephalo-pathy and CONUT score were independent factors influencing the incidence of OHE of Budd-Chiari syndrome patients who underwent TIPSS ( odds ratio=8.36, 1.74, 95% confidence interval as 1.02?68.75, 1.12?2.69, P<0.05). (3) Prediction of OHE after TIPSS. Results of ROC curve showed that the AUC of the CONUT score, the Child-Pugh score of liver function and the integrated model of end-stage liver disease (iMELD) score in predicting the incidence of OHE after TIPSS was 0.77(95% confidence interval as 0.64?0.91, P<0.05), 0.71(95% confidence interval as 0.56?0.87, P<0.05) and 0.71(95% confidence interval as 0.53?0.88, P<0.05), respectively, and there was no significant difference between the AUC of the CONUT score and the Child-Pugh score of liver function or the iMELD score ( Z=0.84, 0.59, P>0.05). The optimal cutoff value of CONUT score in predicting the incidence of OHE after TIPSS was 7, with the sensitivity, specificity and Yodon index as 78.6%, 61.8% and 0.40, respectively. Conclusion:The CONUT score can be used to predict the incidence of OHE in Budd-Chiari syndrome patients who underwent TIPSS, and the discrimination of CONUT score is equivalent to the Child-Pugh score of liver function and the iMELD score.

目的 研究术中保留胸前与肋间臂神经在早期乳腺癌手术中的应用效果.方法 回顾性分析87例女性早期乳腺癌患者的临床资料,按手术方案不同分成对照组42例、研究组45例.对照组接受乳腺癌标准根治术治疗(术中未对胸前与肋间臂神经保留),研究组接受改良式乳腺癌根治术治疗(术中对胸前及肋间臂神经保留).对比两组围术期指标、临床疗效、乳房美观度、术后并发症发生率、复发率和远处转移率.结果 研究组手术时间较对照组延长,术后引流量、术后引流时间和住院时间较对照组减少,差异有统计学意义(P<0.05);两组术中出血量对比,差异无统计学意义(P>0.05);两组治疗总缓解率对比,差异无统计学意义(P>0.05);研究组患者术后3个月乳房美观度优于对照组,差异有统计学意义(P<0.05);研究组术后并发症发生率、复发率和远处转移发生率较对照组均略低,差异无统计学意义(P>0.05).结论 术中保留胸前与肋间臂神经在早期乳腺癌手术患者中的应用效果确切,利于患者尽早恢复,并可避免手术治疗对患者乳房外观美观度造成的影响,维持乳房形态,减少术后并发症、复发和远处转移的发生,值得临床推广.

目的:探讨中性粒细胞淋巴细胞比值(NLR)与淋巴细胞单核细胞比值(LMR)对PD-1抑制剂治疗的晚期非小细胞肺癌(NSCLC)患者预后的预测价值.方法:回顾性分析2015年1月至2021年1月于郑州大学第一附属医院接受PD-1抑制剂治疗的75例NSCLC患者的资料,将其分为治疗前NLR＜5组和NLR≥5组,LMR＜1.5组和LMR≥1.5组,比较不同组别患者疾病控制率、客观缓解率的差异;采用Cox回归分析LMR对PD-1抑制剂治疗的NSCLC患者预后的预测价值.结果:NLR＜5组与LMR≥1.5组有更高的疾病控制率(P＜0.05).Cox回归分析显示,早期给予免疫治疗(HR=0.345,95％CI:0.183～0.650)、LMR≥1.5(HR=0.327,95％CI:0.168～0.638)是NSCLC患者PFS生存获益的预测因素.结论:NLR、LMR可用于PD-1抑制剂治疗晚期NSCLC预后的预测.

目的:探究有氧运动功能训练结合松弛疗法对乳腺癌化疗后癌因性疲乏(Cancer-related fatigue,CRF)患者携氧能力及下丘脑-垂体-肾上腺皮质轴功能的影响.方法:选取我院2018年9月至2020年12月期间105例乳腺癌化疗后CRF患者作为研究对象,依据训练方案不同分为常规组和有氧组.常规组52例给予松弛疗法训练,有氧组53例增加有氧运动功能训练,对比两组CRF程度,携氧能力,下丘脑-垂体-肾上腺皮质轴功能.结果:两组干预3月后感觉、行为及严重程度、情感、认识及情绪评分较干预前降低,有氧组低于常规组(P<0.05).两组干预3月后,血红蛋白、红细胞压积、血氧饱和度水平较干预前升高,有氧组高于常规组(P<0.05).两组干预3月末促肾上腺皮质激素(Adrenocorticotropic hormone,ACTH)水平较干预前降低,有氧组低于常规组(P<0.05);皮质醇(Cortisol,Cor)水平较干预前升高,有氧组高于常规组(P<0.05).结论:有氧运动功能训练结合松弛疗法对乳腺癌化疗后CRF患者进行干预,通过增加营养物质的摄入,改善CRF程度,调节下丘脑-垂体-肾上腺皮质轴功能,调控携氧能力,提高临床疗效.

Objective:To explore the mechanism of mTOR/HIF-1α signaling pathway in Budd-Chiari syndrome (B-CS) liver fibrosis.Methods:Twenty male C57 mice were randomly divided into Sham operation group (Sham), sham operation+ rapamycin (Sham+ Ra) group, B-CS group, B-CS+ rapamycin (B-CS+ Ra) Group, 5 in each group. The B-CS mouse model was constructed by partial ligation of the inferior vena cava(IVC) at the posterior segment of the liver; IVC was not ligated in the Sham group. Mice in Sham+ Ra and B-CS+ Ra groups were intraperitoneally injected with rapamycin (2 mg/kg, 5% DMSO solution preparation) every other day, Sham group and B-CS group were injected with the same dose of 5% DMSO solution.After 6 weeks, samples were taken, and part of the liver tissue was used to make paraffin sections for hematoxylin-eosin (HE) and Sirus Red staining to observe the pathological changes, and immunohistochemical staining to detect the expression of α-SMA and Fibrinogen in liver tissues; Protein and RNA were extracted from fresh liver tissue, and Western-blot was used to detect α-SMA, Fibrinogen, p-mTOR, mTOR, HIF-1α, Collagen I, and VEGF protein levels. Real-time fluorescent quantitative PCR was used to detect mTOR, HIF-1α, CollagenⅠ, VEGF mRNA levels.Measurement data were expressed as mean±standard deviation ( ± s), and the comparison between groups was performed by one-way ANOVA test. Results:The results of pathological staining showed that in the B-CS group, there was severe congestion around the central vein of the liver and sinusoids, widening of the sinus space, and increased collagen deposition, indicating that this study successfully established a mouse B-CS liver fibrosis model. The expression levels of fibrosis indicators α-SMA and Collagen I protein, mTOR pathway related indicators p-mTOR and HIF-1α protein, and microthrombus indicator Fibrinogen protein in the Sham group were 0.027±0.012, 0.337±0.008, 0.138±0.024, 0.296±0.113, 0.733±0.192; B-CS group were 0.986±0.001, 0.927±0.055, 0.936±0.044, 1.693±0.443, 1.612±0.068, and the differences were statistically significant ( P<0.05). The expression levels of B-CS+ Ra group were 0.707±0.078, 0.311±0.024, 0.332±0.094, 0.254±0.117, 0.569±0.075, which were statistically significant compared with B-CS group ( P<0.05). Conclusions:The mTOR/HIF-1α signaling pathway is significantly activated in mouse B-CS liver fibrosis. This pathway may participate in the development of liver fibrosis by regulating microthrombosis.

Objective:To investigate the clinical treatment options for cavernous transformation of portal vein (CTPV).Methods:Data of 65 CTPV patients receiving invasive treatment and followed up at the First Affiliated Hospital of Zhengzhou University between Apr 2011 and Apr 2021 were collected. Patients were divided into four groups based on different treatment option, 24 patients were treated with transjugular intrahepatic portosystemic stent-shunt (TIPS) and 11 patients with splenopneumopexy, while 22 patients underwent splenectomy and devascularization , 8 were treated by endoscopic variceal ligation . The difference of postoperative upper gastrointestinal bleeding and hepatic encephalopathy between the four groups were analyzed,Results:There were no difference between four groups in sex, age, preoperative serum aspartate aminotransferase, total bilirubin, albuminand Child-Turcotte-Pugh grade. The incidence of hepatic encephalopathy in the TIPS group was 33.3%±9.6%、46.5%±10.3% and 64.4%±13.1% in half year, 1 year, and 3 years , respectively. Postoperative hepatic encephalopathy rate was higher in TIPS group( χ2=31.191, P=0.000). Three patients in the TIPS group developed upper gastrointestinal hemorrhage within 6 months after the operation, and postoperative upper gastrointestinal bleeding rate was higher in splenopneumopexy group( χ2=7.542, P=0.006), Conclusion:The clinical treatment options for CTPV patients are complicated ,we should make individual treatment options depend on the etiology, clinical symptoms and site of blood flow obstruction.

目的 探讨柚皮素对细菌性脑膜炎小鼠的治疗作用.方法 45只雄性C57BL/6小鼠按照随机数字法将小鼠分为非感染组、感染组和感染+柚皮素组3组,每组15只小鼠.非感染组小鼠不采用肺炎链球菌干预,感染组小鼠采用肺炎链球菌进行细菌性脑膜炎建模,感染+柚皮素组小鼠在细菌性脑膜炎建模后,腹腔注射100mg/kg柚皮素,持续7d.取脑组织,进行GFAP和Ibal免疫荧光染色检测星形胶质细胞和小胶质细胞活化程度;TUNEL和Fluoro-Jade C染色法检测皮层神经元受损情况;RT-qPCR检测脑组织中炎性因子(IL-6和TNF-α)和趋化因子(CCL-2和CCL-3)的mRNA水平.结果 肺炎链球菌感染致细菌性脑膜炎小鼠生存率显著降低,脑内星形胶质细胞和小胶质细胞的活化程度增加,皮质中神经元受损,脑组织中IL-6、TNF-α、CCL-2和CCL-3的mRNA水平升高,柚皮素处理对细菌性脑膜炎小鼠上述变化具有明显的抑制作用.结论 柚皮素是细菌性脑膜炎的有效抑制剂.

目的:探究七步综合消肿疗法(CDT)对乳腺癌(BC)术后Ⅲ期上肢淋巴水肿患者人体成分指标及肢体运动功能的影响.方法:选取我院2018年9月—2020年12月105例BC术后Ⅲ期上肢淋巴水肿患者为研究对象,依据干预方案不同分为对照组和观察组.对照组行局部功能锻炼,观察组予七步CDT,对比两组人体成分指标、肢体运动功能.结果:干预2个月末两组50Hz电阻水平及U-FMA、Bathel指数评分较干预前升高,且观察组高于对照组;节段水分、细胞外水分、组织水分比率水平较干预前降低,且观察组低于对照组(P<0.05).结论:七步CDT通过促进淋巴血液循环,可调节BC术后Ⅲ期上肢淋巴水肿患者的肢体运动功能,改善人体成分指标.

Objective:To explore the acceptance of breast reconstruction in breast cancer patients and its influencing factors.Methods:From April 2019 to January 2020, convenience sampling was used to select 300 breast cancer patients admitted to the First Affiliated Hospital of Zhengzhou University as the research object. The patients were investigated by the General Information Questionnaire, Body Image after Breast Cancer Questionnaire (BIBCQ) and Acceptance and Action Questionnaire-2nd Edition (AAQ-Ⅱ) . A total of 300 questionnaires were distributed, and 275 valid questionnaires were recovered.Results:A total of 275 breast cancer patients were divided into the acceptance group and the non-acceptance group, of which 110 were in the acceptance group and 165 in the non-acceptance group. The influencing factors of the acceptance of breast reconstruction in breast cancer patients included age, monthly family per capita income, BIBCQ score and AAQ-Ⅱ score, and the differences were statistically significant ( P<0.05) . Conclusions:The low-level acceptance of breast reconstruction in breast cancer patients is affected by the patient's age, income, self-image, and experiential avoidance attitude. Providing relevant coping strategies can help increase the acceptance.

目的:探索晚期肺腺癌患者化疗联合免疫治疗前后的差异代谢物及代谢通路,为评估预后寻找生物指标.方法:利用超高效液相色谱-四极杆-静电场轨道阱质谱(UHPLC-Q-Orbitrap HRMS)技术,对14例晚期肺腺癌患者在第1次使用化疗联合PD-1抑制剂治疗前3 d的血清以及治疗2周期后的血清进行代谢组学分析.通过对采集得到的图谱进行峰识别和匹配等相关处理,应用主成分和正交偏最小二乘法-判别分析对代谢组学的数据进行分析,筛选出重要变量性投影>1和P<0.05的差异代谢物,并筛选代谢通路.结果:治疗前后血清代谢物质有明显差异,治疗后患者血清代谢物中谷氨酰丝氨酸、脯氨酸、犬尿氨酸、脱氢抗坏血酸、N-硬脂酰鞘磷脂、5-羟基吲哚乙酸水平升高;色氨酸、亮氨酰脯氨酸、柠檬酸、硬脂酸、吲哚丙烯酸、丙酰肉碱、吲哚、3-甲基吲哚水平降低.色氨酸代谢通路是治疗前后的差异代谢通路.结论:犬尿氨酸/色氨酸比值可能作为评估PD-1抑制剂治疗的晚期肺腺癌患者预后的生物指标.

Objective:To explore the effects of early warning nursing on preventing the incidence of venous thrombosis in patients with breast cancer after chemotherapy.Methods:Totally 103 patients with breast cancer admitted at the First Affiliated Hospital of Zhengzhou University from January to December 2018 who received routine nursing were included into the routine group, and 103 patients with breast cancer admitted at the First Affiliated Hospital of Zhengzhou University from January to December 2019 who underwent early warning nursing were included into the early warning group. The incidence of venous thrombosis 1 month after chemotherapy was compared between the two groups. Color Doppler ultrasonography was used to detect axillary blood flow before and 1 month after chemotherapy.Results:The incidence of venous thrombosis in the early warning group after chemotherapy was lower than that in the routine group, and the difference was statistically significant ( P<0.05) . The maximum blood flow rate and average blood flow rate in the armpit after chemotherapy in the early warning group were higher than those in the routine group, with statistically significant difference ( P<0.05) . Conclusions:Early warning nursing has a positive effect on the incidence of venous thrombosis in patients with breast cancer after chemotherapy, which can improve their hemagglutination.

Objective:To explore the status quo of support needs among the caregivers of patients with advanced breast cancer and analyze its influencing factors to provide reference for improving the quality of life of patients with advanced breast cancer and their caregivers.Methods:Totally 168 caregivers of patients with advanced breast cancer admitted at the First Affiliated Hospital of Zhengzhou University were selected by convenient sampling and investigated with the general information questionnaire and Comprehensive Needs Assessment Tool in Cancer for Caregivers (CNAT-C) . Multiple linear regression analysis was used to analyze the influencing factors.Results:The total CNAT-C score of the 168 caregivers of patients with advanced breast cancer was (96.13±8.06) . The result of multiple linear regression analysis showed that the fertility status, monthly family income, and the payment method of medical expenses were the influencing factors of the support of the caregivers of patients with advanced breast cancer ( P<0.05) . Conclusions:Nursing staff should pay attention to the support needs of caregivers of patients with advanced breast cancer and take targeted intervention measures based on their influencing factors to improve the quality of life of patients with advanced breast cancer and their caregivers.

目的 探索栀子苷(geniposide,Gen)对脂多糖(lipopolysaccharide,LPS)诱导的血脑屏障(blood–brain bar-rier,BBB)功能障碍的作用和生物学机制.方法 腹腔注射LPS制作大鼠脑白质损伤(white matter injury,WMI)模型,腹腔注射Gen干预WMI;通过埃文斯蓝(Evans blue,EB)染色和IgG染色检测BBB渗透性,免疫荧光染色观察脑组织中闭锁小带蛋白1(zonula occludens protein 1,ZO-1)和咬合蛋白(occludin)表达,胶质原纤维酸性蛋白(glial fibrillary acidic protein,GFAP)和离子钙结合适配分子1(ionized calcium-binding adapter molecule 1,Iba1)标记法评估脑内星形胶质细胞和小胶质细胞活化;Western blot法检测脑组织中TLR4/NF-κB信号活性.结果 LPS刺激明显增加EB和IgG的渗漏,破坏ZO-1和occludin在细胞连接处连续分布,促进星形胶质细胞和小胶质细胞活化,增加TLR4/NF-κB信号活性;而Gen治疗显著改善LPS诱导的上述指标变化.结论 Gen能减轻LPS诱导的BBB功能障碍,其这种作用可能与其降低脑内星形胶质细胞和小胶质细胞活化和TLR4/NF-κB信号活性以及改善紧密连接蛋白的分布方式有关.

目的 探讨氟哌啶醇片联合菖麻熄风片治疗儿童抽动症的疗效及其对神经递质和T淋巴细胞亚群的影响.方法 选取2020年2月至2021年2月南阳市中心医院诊治的104例抽动症患儿为研究对象,根据患儿入组顺序数字化随机分成试验组和对照组(奇数设为试验组,偶数设为对照组),每组52例.对照组给予氟哌啶醇片及盐酸苯海索片进行治疗,试验组在对照组基础上加用菖麻熄风片联合进行治疗.治疗8周后比较两组临床疗效.分别于治疗前和治疗8周后比较两组耶鲁抽动症整体严重程度量表(YGTSS)评分、Achenbach儿童行为量表(CBCL)评分,神经递质[5-羟色胺(5-HT)、多巴胺(DA)、γ-氨基丁酸(GA-BA)]水平、T淋巴细胞亚群(CD3+、CD4+、CD8+、CD4+/CD8+)水平及不良反应(运动障碍、失眠、头痛、口干、心律失常)情况.治疗结束后随访3个月,观察两组患儿抽动症复发情况.结果 治疗8周后,对照组和试验组有效率分别为82.69％、96.15％,组间比较差异有统计学意义(χ2=4.981,P=0.026).试验组YGTSS、CBCL评分治疗前后差值高于对照组,5-HT、DA、GABA水平治疗前后差值高于对照组,CD3+、CD4+、CD8+、CD4+/CD8+水平治疗前后差值高于对照组,差异均有统计学意义(P均<0.05).随访3个月,试验组复发率为2.08％(1/48),低于对照组的17.50％(7/47),差异有统计学意义(P<0.05).结论 氟哌啶醇联合菖麻熄风片治疗儿童抽动症疗效尚可,还有利于血清神经递质和免疫能力的改善,降低复发率,具有良好临床应用价值.

目的 探讨儿童自身免疫性脑炎早期脑电图特点,为免疫性脑炎的早期诊治提供客观依据.方法 回顾性分析32例自身免疫性脑炎患儿[8例为抗N-甲基-D-天冬氨酸受体(NMDAR)脑炎,24例为抗体阴性自身免疫性脑炎]的视频脑电图及动态脑电图资料,分析脑电图背景、临床发作期放电部位、发作间期癫痫样放电及亚临床癫痫发作情况.结果 脑电图异常30例,脑电图正常2例.30例脑电图异常患儿均有背景慢化,其中背景为δ波者16例(53.3％).脑电图显示,睡眠周期紊乱者6例(20.0％).发作间期异常放电14例(46.7％),均为局灶性放电,其中6例脑电图监测期间出现抽搐发作,均为局灶起源,其中1例前额有δ节律;18例无异常放电.结论 儿童自身免疫性脑炎的脑电图主要表现为弥漫性δ波,发作期放电部位主要以颞部为主,发作间期癫痫样放电主要分布于额颞部.

患者 女,50岁,以"腹痛、腹胀伴发热10 d"为主诉人院.既往无乙肝、丙肝病史.实验室检查:肿瘤标记物CA125106 U/mL,CA199 54.2 U/mL;肝功能分级为 Child A 级.上腹部平扫及增强CT示:肝左叶巨大占位,最大径约157.14 mm×134.54 mm,增强后呈中度强化,肝左静脉及下腔静脉可见充盈缺损(图1).穿刺病理活检示(图2):肝组织内见腺体轻度异型增生,可见腺癌细胞浸润;结合免疫组化,诊断肝内胆管细胞癌(intrahepatic cholangiocarcinoma,ICC);TNM 分期为T3N1M0 Ⅲb 期.

目的 探讨脑脊液中纤维连接蛋白(FN)、血管内皮生长因子(VEGF)及乳酸脱氢酶(LDH)水平在鉴别诊断儿童细菌性脑膜炎(BM)和病毒性脑炎(VE)中的价值.方法 选取31例BM患儿(BM组)、34例VE患儿(VE组)及26例非中枢神经系统(CNS)感染患儿(对照组)为研究对象.采用酶联免疫吸附法(ELISA)检测3组患儿治疗前后脑脊液中FN、VEGF、LDH水平;采用受试者工作特征(ROC)曲线分析FN、VEGF及LDH对BM、VE的鉴别诊断价值,采用Pearson系数分析三者的相关性.结果 治疗前,BM组FN、VEGF、LDH水平均高于对照组及VE组,VE组FN水平低于对照组,差异有统计学意义(P＜0.05).治疗后,BM组FN、VEGF、LDH水平降低,VE组FN、LDH水平均降低,差异有统计学意义(P＜0.05).FN、VEGF及LDH鉴别诊断BM组与VE组、BM组和对照组的ROC曲线下面积(AUC)均＞0.9,FN鉴别诊断VE组和对照组的AUC＞ 0.8,但VEGF及LDH鉴别诊断VE组和对照组的AUC ＜0.6.BM组中FN、VEGF及LDH之间两两呈正相关,VE组中VEGF与LDH呈正相关,而对照组中FN、VEGF及LDH之间无相关性.结论 检测脑脊液中FN、VEGF、LDH水平对BM、VE和非CNS感染的鉴别诊断具有一定临床价值.

背景 X-连锁隐性遗传点状软骨发育不良(CDPX1)是一种罕见的先天性骨骼和软骨发育障碍性疾病,致病基因为ARSE基因.目前国内报道较少,且均为新生儿,尚无儿童患者表型报道.目的 分析ARSE基因突变致CDPX1的临床表型和基因型.方法 收集郑州大学第三附属医院2018年6月确诊的1例ARSE基因突变致CDPX1患者的临床资料,对其临床特征及全外显子测序结果 进行分析,并以"点状软骨发育不良""芳香基硫酸酯酶E"和"chondrodysplasia punctate""ARSE"为检索词,分别在中国知网、万方数据知识服务平台、PubMed以及人类基因组突变数据库(HGMD)检索建库至2020年2月的相关文献,总结ARSE基因突变致CDPX1患者的临床表型和基因型.结果 本例患儿,男性,胎儿超声发现鼻梁低平,出生后呼吸困难,混合性耳聋,鼻发育不良,四肢短,手指短,认知及运动发育落后,房间隔缺损,X线检查示有典型的点状钙化.全外显子测序结果 发现ARSE基因c.1219G>A(p.E407k)半合子变异,患儿父亲与姐姐该位点为野生型,患儿母亲为杂合突变,该变异国内外未见文献报道.经数据库检索到ARSE基因突变致CDPX1且有详细临床表型的病例23例,其中男22例,女1例,胎儿期确诊4例,其中2例活产,1例26周流产,1例不详;1例因出现新生儿期合并弥散性血管内凝血(DIC)死亡.临床表现:面中部发育不良,远端指骨短,脊柱及四肢长骨等点状骨骺,呼吸功能不全,听力异常,脊柱弯曲或椎体形态异常,鼻孔狭窄或闭锁,矮小,先天性心脏病,认知障碍,颈部短,气管及支气管钙化,气道狭窄,喉软骨钙化,肌张力低下,并趾畸形,体质量增长缓慢,喂养困难,宫内生长受限,小于胎龄儿,白内障,胸廓小,椎管狭窄,关节挛缩.其中胎儿期表现:面部扁平,不同程度的鼻发育不良,鼻梁凹陷,脊柱弯曲异常,椎体异常,椎管狭窄,上肢短,骨骺及脊柱弥漫性点状钙化,长骨发育不良,胎儿生长受限.通过HGMD检索到47个ARSE基因突变,包括点突变、单个或多个外显子缺失、完全缺失、染色体易位.结论 首次报道ARSE基因c.1219G>A变异所致CDPX1,扩大了ARSE基因的突变谱,且报道了患者从胎儿期到2岁的临床表型,有助于对CDPX1临床表型及基因型的认识.

Objective:To summarize the preliminary experience of percutaneous radiofrequency ablation(RFA) in the treatment of early breast cancer(the length of the lesion<15 mm) with negative sentinel lymph node(SLN), and to evaluate its feasibility and efficacy.Methods:From October 2016 to November 2019, 18 patients with early breast cancer(the length of the lesion<15 mm) treated in the First Affiliated Hospital of Zhengzhou University underwent FNAC of axillary SLN under the guidance of CEUS were enrolled. Patients with pathologically negative axillary SLN were treated with percutaneous RFA of breast cancer. The complete ablation rate and the relapse rate were evaluated. Intraoperative pain, postoperative complications and postoperative patient satisfaction were analyzed.Results:Eighteen patients underwent CEUS-guided FNAC of SLN, of which 1 case was positive and 17 cases were negative. Seventeen breast cancer lesions of the 17 negative patients underwent percutaneous RFA. The length of the lesions was 3.3-14.0 (8.2±3.9)mm, the complete ablation rate was 100%, the ablation time was 9-18 (12.8±2.7)min. During the follow-up of 9-46 months, no patient developed tumor progression. There were no serious complications related to RFA after operation. The patients′ satisfactory rate for postoperative appearance was 100%.Conclusions:RFA of early breast cancer(the length of the lesion<15 mm) with negative SLN is feasible and has the advantages of safety, minimal invasion and beauty.

Objective:To explore the nursing effect of early quantitative ambulation in patients undergoing radical mastectomy.Methods:A total of 109 cases of breast cancer patients who underwent radical mastectomy in the First Affiliated Hospital of Zhengzhou University from June to December 2019 were selected as the control group, while another 113 cases from January to June 2020 were selected as the observation group by convenience sampling method. The control group received routine activity nursing, and the observation group received early quantitative activity training. The activity volume, shoulder range of motion, compliance and complication rate of the two groups were compared.Results:The amount of activity in the observation group was higher than that in the control group, and the difference was statistically significant ( P<0.05) . The shoulder flexion, abduction, adduction and extension angles of the observation group at discharge and 12 weeks after discharge were greater than those of the control group, and the differences were statistically significant ( P<0.05) . The compliance rate of the observation group was higher than that of the control group, and the difference was statistically significant ( P<0.05) . The incidence of complications in the observation group at discharge and 12 weeks after discharge was lower than that in the control group, and the difference was statistically significant ( P<0.05) . Conclusions:Quantitative ambulation training can increase the activity of patients with breast cancer, help to improve the range of motion of shoulder joint, reduce the incidence of complications, and improve the compliance of patients.