不孕症已然成为全球化的问题,严重影响着患者的生活质量和水平,而不孕症心理量表对于评估不孕症患者的整体水平有关键的作用,查阅文献目前对不孕症专用心理量表缺少相关总结,本文对不孕症专用心理评估工具进行综述与总结,以期为开发适合中国使用的研究工具提供借鉴,为全面准确评价不孕症现状提供参考依据。

目的 子痫前期是全球第二大孕产妇死亡原因,其发病原因可能与氧化应激、免疫失衡、血管内皮损伤、炎症激活因素有关,至今仍未阐明。肠道菌群维持着机体的内环境稳态并通过产生多种代谢产物影响机体的生理病理状态。近期研究表明,肠道菌群代谢产物如氧化三甲胺、短链脂肪酸、脂多糖及胆汁酸与子痫前期的发展密切相连。本文主要综述了肠道菌群代谢产物的形成和功能及其与子痫前期的相关性研究现状,以期为子痫前期的预防和治疗提供理论基础和思路。

基于中药系统毒理学数据库(TCMSTD)分析致生殖毒性中药的作用规律。对TCMSTD收录的有毒中药按照毒性类型筛选,发现29味中药具有生殖毒性。进一步对这些中药分析表明,药味多为辛、苦,药性主要为温、寒,归经主要为肝经;其中,明确有致生殖毒性报道的成分17种;这些中药直接或间接对雄性、雌性及胚胎造成生殖毒性。提示对致生殖毒性中药的使用应严格遵循中药的用法用量要求,采用炮制、配伍等减毒方法避免中药的潜在安全风险。

为系统评价孕期全氟和多氟化合物(PFAS)暴露与妊娠期高血压疾病(HDP)的关联,本文检索PubMed、Web of Science、Embase、中国知网和万方电子数据库,筛选截至2024年12月有关PFAS暴露与HDP的相关性研究,使用纽卡斯尔-渥太华量表评估文献质量,使用R 4.3.1软件对符合入选标准的文献进行Meta分析。最终纳入研究14项,其中队列研究8项,病例对照研究3项,巢式病例对照研究2项,病例队列研究1项。Meta分析结果显示,孕期PFOA(OR=1.11,95% CI:1.01~1.23)和PFHpA(OR=1.43,95% CI: 1.15~1.78)暴露与妊娠期高血压发病显著相关,PFOS暴露可增加子痫前期的发生风险(OR=1.28,95% CI: 1.01~1.62),未发现PFHxS、PFNA、PFDoA和PFUnDA与HDP及各亚型发病存在显著关联。孕期HDP发生风险可能受到PFAS暴露潜在影响,其中PFOA、PFHpA和PFOS是重要组分。

孤独症谱系障碍(ASD)是一种早发性神经发育疾病,主要表现为社会交往障碍,重复、刻板行为和狭隘兴趣。ASD儿童的家庭在其日常照顾及康复训练中占据重要地位,承受着巨大的照顾负担。本文从照顾负担的概念发展、评估工具、现状及影响因素四方面对ASD儿童家庭照顾负担的研究进展进行综述,为后续开展深入研究、有关部门制定相应干预措施提供参考。目前国内外研究显示ASD儿童家庭承受的照顾负担处于中度至重度水平,评估工具众多,主要影响因素有患儿疾病严重程度、家庭收入水平及社会支持情况等。

PTEN错构瘤综合征(PHTS)是由于PTEN基因突变引起的罕见的常染色体显性遗传病,临床上常表现为大头畸形、发育迟缓、脂肪瘤、甲状腺功能减退、颅脑MR异常等。由于症状不典型,临床早期确诊难度较大。本文报道1例PTEN基因变异导致的PTEN错构瘤综合征患儿病例,同时结合国内外文献进行复习,旨在提高儿科医师对本病的早期识别能力,减少误诊、漏诊。

目的 探讨胎头吸引助产围产期的结局及其发生产后出血的高危因素。方法回顾性分析2018年9月至2023年8月在湖南省妇幼保健院行胎头吸引助产的417例孕妇的临床资料,按照产后24 h出血量分为对照组(产后出血量＜500 mL)349例和研究组(产后出血量≥500 mL)68例,其中产后出血量500≤~<1 000 mL的为轻微产后出血组,共57例;产后出血量≥1 000 mL的为严重产后出血组,共11例。分析三组患者的一般资料、分娩情况及母儿并发症如子宫颈裂伤、产后尿潴留、新生儿窒息等情况,并采用二元Logistic回归分析探讨胎头吸引助产并发产后出血的高危因素。结果三组患者之间进行单因素分析发现,新生儿出生体重、决定助产时先露位置、软产道裂伤、总产程等13个因素组间差异有统计学意义。Logistics回归分析显示,伤口渗血[2.27(1.07～4.84)]、胎盘粘连[3.23(1.03～10.16)]及胎儿下降停滞[5.16(1.68～15.79)]是轻微产后出血的独立危险因素;而伤口渗血[35.54(2.00～630.28)]、胎盘粘连[16.19(1.02～256.01)]是导致严重产后出血的独立危险因素。结论伤口渗血和胎盘粘连与胎头吸引助产并发严重产后出血的发生密切相关。

目的 探讨盐酸氢吗啡酮联合罗哌卡因行腹横肌平面阻滞(TAPB)对剖宫产术镇痛效果的影响。方法选取2023年4月—6月本院收治的60例行剖宫产术的产妇,ASA麻醉分级Ⅰ~Ⅱ级,采用数字表法分为两组,盐酸氢吗啡酮复合罗哌卡因组(H组)和罗哌卡因组(C组),每组各30例。两组均采用单次腰麻麻醉方式,麻醉间隙选择L3～ L4,在蛛网膜下腔给予0.5%罗哌卡因重比重液2 mL。两组产妇均在超声引导下行腹横肌平面阻滞和术后静脉自控镇痛。H组注射加入盐酸氢吗啡酮0.5 mg加0.25%罗哌卡因20 mL,C组注射0.25%罗哌卡因20 mL。记录两组产妇的手术时间、术后产妇康复情况(术后首次下床时间和首次下床活动持续时长)、术后不良反应发生例数。比较两组产妇术后6 h(T1)、12 h(T2)、24 h(T3)疼痛视觉模拟评分(VAS评分)和术后24 h睡眠满意度。结果两组患者在一般资料、手术时间和术后不良反应发生例数上无明显差异,但与C组相比,H组产妇术后12 h(T2)、24 h(T3)时间段VAS评分明显少于C组,且术后24 h睡眠满意度明显高于C组(P< 0.05)。在术后产妇康复情况方面,H组术后首次下床时间明显早于C组,且首次下床活动持续时长明显长于C组(P< 0.05)。结论盐酸氢吗啡酮联合罗哌卡因进行腹横肌平面阻滞,能够增强罗哌卡因阻滞效果,提高产妇镇痛和睡眠满意度,促进产妇康复。

目的 针对既往有巨大儿分娩史的产妇,寻找降低其再次分娩巨大儿风险的影响因素,同时探讨不同孕前BMI及孕期不同阶段体重增加情况与再次分娩巨大儿的关联,为有巨大儿分娩史的孕妇再次妊娠时的体重控制提供参考依据。方法选择2014年1月1日至2023年12月31日在北京市通州区妇幼保健院建档、产检并前后分娩单胎足月活产两次,且第一次分娩新生儿体重≥4 000 g的产妇作为研究对象,应用病例对照研究的方法,将第二次分娩新生儿体重≥4 000 g的产妇作为病例组(再分娩巨大儿),将第二次分娩新生儿体重＜4 000 g的产妇作为对照组(再分娩非巨大儿),通过t检验和卡方检验对产妇基本情况及孕期情况进行分析,通过多因素条件Logistic 回归模型分析影响再次分娩巨大儿的危险因素,从而寻找降低风险的方法。结果病例组妊娠早中晚期的体重均高于对照组(P<0.05)。对于全部研究对象,病例组体重总增速和孕中期增速分别为(0.40±0.14)千克/周和(0.49±0.19)千克/周,高于对照组(P<0.05);对于本次孕前BMI过高的研究对象,病例组体重总增速和孕中期增速分别为(0.37±0.16)千克/周和(0.44±0.19)千克/周,高于对照组(P<0.05)。相比其他职业,职业为办事人员或有关人员的产妇再次分娩巨大儿的风险升高至2.03(1.02～4.03)倍;相比孕前BMI处于18.5~23.9 kg/m²之间的孕妇,孕前BMI≥24 kg/m²会使产妇再次分娩巨大儿的风险升高至2.01(1.22～3.33)倍;孕中期每多增重1kg会使再次分娩巨大儿的风险增加至1.16(1.07～1.26)倍。结论再孕巨大儿的产妇体重在妊娠各期均高于再孕非巨大儿的产妇,职业、孕前BMI是降低再孕巨大儿风险的影响因素,再孕巨大儿的风险随孕中期体重增重的控制而降低,针对不同孕前BMI孕妇不同孕期的增重速度进行控制,可降低再孕巨大儿风险。

目的 了解山西省育龄女性孕前保健服务利用情况及其影响因素,为开展孕前保健工作提供依据。方法采用分层整群随机抽样的方法,抽取2020年6月—2021年3月全省20～49岁住院分娩的育龄女性进行问卷调查,应用χ²检验、Logistic回归分析孕前保健服务利用情况及影响因素。结果共发放调查问卷3 687份,剔除无效问卷,最终获得有效问卷3 490份,问卷有效率为94.7%。调查的3 490位女性有1 541名接受过孕前保健服务,占44.2%。有539名女性接受了孕前遗传咨询,占35.0%,有1 028名女性接受了孕前医学检查,占66.7%,接受孕前健康生活方式指导的女性最多,占67.1%。调查对象参加孕前保健服务的主要原因是“身体无不适,想了解自己身体状况是否可以承担妊娠过程”。调查对象未参加孕前保健服务的主要原因是“身体很好,认为没有必要”。是否参加婚前保健服务是影响调查人群参加孕前保健服务的主要因素。结论山西省孕前保健服务利用情况有待于进一步提高,应采取措施,有效开展孕前保健服务。

目的 应用妇产科Milestones评价体系,通过问卷调查,了解妇产科住院医师规范化培训过程中临床胜任力的现状及存在问题,对此进行总结并提出相应建议。方法制作妇产科Milestones评价表,采用问卷调查的方法,对在妇科轮转的56名住院医师进行问卷调查,内容主要包括临床能力评估、规范化培训内容评价等方面。结果完整回收填写问卷56份,回收率100%,目前妇产科已经建立基于住院医师规范化培训的临床技能学习体系,但在临床能力培训方面仍需要提高。结论妇产科Milestones评价体系可指导临床考核及评估,应合理安排住院医师的临床规范化培训及临床带教时间,不断提升妇产科住院医师的临床胜任力及综合素质。

目的 研究子宫内膜异位症(EMs)患者在位内膜及其异位内膜组织与腹腔镜下诊断为除EMs外的其他良性肿瘤患者的在位子宫内膜组织(后统称对照内膜)转录组的差异基因表达,探究其所涉及的主要基因和关键通路。方法选取2021年8月至2023年2月在北京中医药大学第三附属医院妇科经腹腔镜诊断为EMs的9例患者及腹腔镜下诊断为除EMs外的其他良性肿瘤的9例患者,收集患者内膜组织,提取RNA并建库,应用转录组测序技术(RNA-Seq)检测对照内膜、在位内膜及异位内膜的差异基因表达情况,通过 GO、KEGG、PPI网络分析等方法找到其关键差异基因及通路。结果异位内膜与在位内膜对比,共筛到3 191个差异表达基因,上调基因1 486个,下调基因1 705个,PPI网络筛选出来的关键节点基因主要有C3、NCAPG、SMC4、NCAPH、SMC2、CCR5等,NR5A1显著上调,SPRR3显著下调。在位内膜与对照内膜对比,共筛到1 126个差异表达基因,上调基因603个,下调基因523个。PPI网络筛选出来的关键节点基因主要有C3、NTRK2、NTRK1、IL2RG、IL15、PRF1等,SPRR1B显著上调,NR5A1显著下调。异位内膜与对照内膜对比,共筛到3 204个差异表达基因,上调基因1 586个,下调基因1 618个。PPI网络筛选出来的关键节点基因主要有C3、ICAM1、ITGB2、NCAPG、NCAPH、SMC2等。在异位内膜样本中,上调最明显的基因是CHIT1,下调最明显的基因是OPRPN。上述关键基因主要富集在肾素分泌、补体和凝血级联、细胞黏附分子、破骨细胞分化、细胞色素P450对外源性药物的代谢作用、药物代谢-细胞色素P450、细胞因子-细胞因子受体相互作用等与黏附、侵袭、细胞代谢有关的信号通路。结论EMs异位和在位内膜组织在转录组学表达方面不仅相互间有明显差异,与非EMs良性肿瘤患者的内膜组织也皆有明显差异。新发现的EMs相关关键节点基因(如NCAPG、SMC4、NCAPH、SMC2、LCK、IL2RG等)以及相应主流信号通路(如抑制细胞代谢、促进炎症反应等)可能具有针对EMs发病、防控等方面进一步研发的意义。

Objective To explore the current situation and causes of maternal death due to cardiac disease in pregnancy, promptly identify and understand the existing problems in various aspects, develop targeted interventions, and effectively reduce maternal mortality rate. Methods A retrospective analysis was conducted on the clinical data of 60 pregnancy-related deaths due to cardiac disease during the provincial review period in Sichuan Province from 2016 to 2022. Results In 2016-2022, the number of pregnancy-related deaths due to cardiac disease accounted for 11.2% of the total number of reviews, and the specific rate of heart disease deaths was 1.2 per 100 000 in Sichuan Province. Among the 60 cases of pregnancy-related deaths, other heart diseases (58.3%) were the most common type. 75.0% of those with junior high school education or below, half of those with less than 5 prenatal examinations. Avoidable deaths accounted for 51 cases (85.0%), mainly attributed to individual and family knowledge, skills, attitudes and resources (25.0%) and the knowledge and skills of healthcare institutions (51.0%). Conclusion The proportion of indirect obstetric causes has increased, and cardiac disease became the primary factor in maternal death. The reasons include inadequate early identification of medical institutions, the need for improved treatment capacity, insufficient awareness of prenatal care during pregnancy and the critical issue of health education. It is necessary to standardize periconceptional health care services during pregnancy and childbirth, strictly manage high-risk pregnant, enhance the skills training for grassroots personnel, and strengthen the intensity of science popularization and education to reduce the occurrence of maternal deaths due to pregnancy-related cardiac disease.

Objective To investigate the cesarean section rate among 182 179 pregnant women in Province Jilin, analyze the related factors influencing the mode of delivery chosen by pregnant women, and provide effective measures to reduce the cesarean section rate. Methods A cross-sectional survey method was employed, utilizing the National Maternal and Child Health Monitoring System to collect data on pregnant women who delivered above at 28 weeks (≥28 gestational weeks) from 13 monitoring hospital across the province between January 1, 2017, and December 31, 2020. A multivariate logistic regression analysis model was applied to explore the influencing factors of cesarean sections among pregnant women. Results Over the four-year period in Province Jilin, 95 954 cesarean sections were recorded, yielding a cesarean section rate of 52.7%. The multivariate unconditional logistic regression model analysis indicated that the following factors were associated with an increased rate of cesarean sections:maternal age above 30 years (≥30 years) multiparous women, with of comorbidities or complications, placenta previa, abruption placenta, hypertensive disorders of pregnancy, diabetes, male fetal gender, delivery of twins or more, low birth weight, and macrosomia. Pregnant women with an educational level of high school/technical secondary school and anemia were associated with a reduced rate of cesarean sections. Conclusion The cesarean section rate among pregnant women in Province Jilin is at a relatively high level and shows a rising trend, with numerous factors influencing the rate. It is recommended to strengthen health monitoring and focus on the management of high-risk groups, particularly on the education of primiparous women, in order to reduce the cesarean section rate.

Objective To investigate the effect of twin pregnancy on the long term risk of hypertension in women. Methods Data were derived from an ongoing twin survey study which aims to recruit 1 000 women and their children who had twin pregnancies during 1990~2010, along with a matched control group of approximately 1 000 women with singleton pregnancy and their children. Women were matched based on the same township and with pregnancy dates within less than a year. Questionnaires data were collected from 1 686 mother from four counties/districts in Hebei Province(Mancheng, Xianghe, Leting, and Fengrun) from Jun 2021 to September 2023. Exclusion criteria included lack of confirmed hypertension diagnosis, diagnosis of hypertension before pregnancy, during pregnancy, or within two years postpartum, and missing critical information such as date of birth, height, weight, lifestyle, and dietary habits. Finally, a total of 1 550 women were included in the analysis. There were 769 women with twin pregnancies(twin group) and 781 women with singleton pregnancies(singleton group). Basic characteristics of these women were described. Kaplan-Meier curve was used to analyze the cumulative prevalence of hypertension, and Cox regression was used to explore the influence of twin pregnancy on hypertension in women. Results The incidence of hypertension in the twin group was 8.8%(68/769), which was significantly higher than the singleton group(5.8%,45/781). Univariate Cox analysis revealed that twin pregnancy was a risk factor for hypertension(HR=1.57,95% CI:1.07-2.28). After adjusting for age, body mass index, education level, frequency of tea consumption, smoking, and alcohol consumption, twin pregnancy remained an independent risk factor for hypertension(adjusted HR=1.55,95% CI:1.06-2.27). Conclusion Twin pregnancy is an independent risk factor for hypertension in women. Risk management of long-term hypertension in women with twin pregnancy should be strengthened.

Objective To investigate the trend and distribution of obesity status in preschool children in Chaoyang District, Beijing, and to provide a scientific basis for children′s development and health management. Methods The data is the physical examination records of 3~6 years old preschool children from 2010 to 2019 managed by kindergartens in Chaoyang District, Beijing from 2010 to 2019. The standard deviation scoring method was used to define obesity, as weight-for-height was more than or equal to the median plus 2 standard deviations. The Cochran-Armitage test was used to analyze the temporal trend of obesity prevalence of preschool children. The χ² test was used to compare the differences in the obesity prevalence by characteristics of preschool children and kindergartens. Results The prevalence of obesity among preschool children in Chaoyang District, Beijing, showed a decreasing trend from 2010 to 2019, with obesity prevalence of 4.5%, 4.2%, 4.3%, 4.7%, 4.6%, 4.3%, 4.1%, 3.8%, 3.4% and 3.4%, respectively(P<0.001). The obesity prevalence showed an increasing trend with age, with the prevalence of 3.0%, 3.5%, 4.7%, and 5.9% for children aged 3 to < 4, 4 to <5, 5 to <6, and 6 to <7 years old, respectively(P<0.001). The obesity prevalence was higher in children of local household registration(4.3%) than those of floating household registration(3.7%)(P<0.001). Stratified analyses by characteristics of kindergartens showed that the obesity prevalence in preschool children was higher in urban kindergartens than in rural kindergartens(4.3% vs. 3.8%, P<0.05), higher in kindergartens with grade 3(3.9%), grade 2(4.7%) and grade 1(4.4%) than that without grade(3.5%)(P<0.05), higher in kindergartens that regularly conducted and passed health care evaluations(4.3%) than those that did not regularly conduct health care evaluation assessments(2.8%)(P<0.05), and higher in public kindergartens than private kindergartens(4.8% vs. 3.5%, P<0.05). Conclusion The obesity prevalence of preschool children decreased from 2010 to 2019 in Chaoyang District, Beijing. Results from stratified analyses indicated that health care education should be strengthened in children with local resident and older age, and in kindergartens in rural and township region, with low grade, without regular evaluation, or private kindergartens to improve their health care management in children.

Objective To explore the association between serum vitamin A and vitamin E concentrations in first trimester of pregnancy and preeclampsia. Methods The study was based on the cohort about the association between serum vitamins A and E during pregnancy and preeclampsia, which was conducted by Development Center for Medical Science & Technology, National Health Commission of the People′s Republic of China. It included the basic characteristics of pregnant women, serum vitamin A and E concentrations at different stages of pregnancy, and status of preeclampsia. The serum vitamin A and vitamin E concentrations were divided into three groups of deficiency, normal range, and excess. We calculated the prevalence of preeclampsia in different groups. Logistic regression models were used to analyze the association between vitamin A and vitamin E concentrations in first trimester and the risk of preeclampsia. Results A total of 61 555 pregnant women were included in this study, and 1 426 (2.3%) were diagnosed with preeclampsia. In first trimester of pregnancy, no significant difference was found in vitamin A levels between pregnant women with preeclampsia and healthy pregnant controls. Pregnant women with preeclampsia had significantly lower levels of vitamin E in first trimester. The risk of preeclampsia was reduced in pregnant women with vitamin A deficiency (OR=0.80, 95%CI: 0.64-0.99), while the risk of preeclampsia was significantly increased in pregnant women with vitamin E deficiency (OR=6.54, 95%CI: 4.98-8.59). Pregnant women with vitamin A in the normal range and vitamin E deficiency in the first trimester had a significantly increased risk of preeclampsia compared to those with both normal levels of vitamin A and E (OR=11.61, 95%CI:8.65-15.58). Conclusion Serum vitamin A and vitamin E concentrations during pregnancy were associated with preeclampsia. Vitamin E deficiency in first trimester is a risk factor for preeclampsia. Monitoring vitamin A and E concentrations in early pregnancy can help identify high-risk individuals for preeclampsia.

Objective Low birth weight (LBW) is one of the main risk factors that affect the health of newborns and adults. Fine particulate matter (PM_2.5) is regarded as an essential environment factor that increases the risk of LBW. However, in China, there is a lack of research quantifying the burden of LBW attributable to PM_2.5. This study aimed to accurately estimate the LBW burden attributable to PM_2.5 and analyze its spatial and temporal distribution. Methods This study collected data on the population with low birth weight of 31 provincial-level administrative region in Chinese Mainland from 2002 to 2021 based on the rate of LBW and number of live births derived from “Year book of health in the People′s Republic of China”. According to the administrative boundaries, the exposure data was obtained from the high-resolution estimated PM_2.5 dataset which was created through a combination of satellite, simulation, and monitoring data. The province-level attributable fraction (AF) and attributable number (AN) of LBW then were calculated using the nonlinear exposure-response relationship function from the Global Burden of Disease study. Results LBW attributable to PM_2.5 showed a rising trend from 2002 to 2017, followed by a decline after 2017, reaching a decrease to 17 400 (95% confidence interval:400 to 35 300) by 2021. There were significant regional differences in the distribution of attributable LBW burden, with Hebei, Henan, Guangdong, and Guangxi suffering from a heavier burden in 2021, at 2 400 (95% confidence interval:100 to 5 200), 1 200 (95% confidence interval:0 to 2 700), 1 600 (95% confidence interval:0 to 3 200), and 700 (95% confidence interval:0 to 1 500) respectively, accounting for a total of 34.11% (95% confidence interval:33.55% to 34.78%) of the national disease burden. Conclusion The burden of LBW attributable to PM_2.5 in China had significantly decreased, but was unequally distributed across provinces.

神经管畸形引起的中枢神经系统发育异常不仅是死产和新生儿死亡的主要原因,也是存活婴儿终身残疾的重要原因。细胞自噬是胞质“更新”的过程,对细胞命运的决定至关重要。自噬可能参与胚胎发生和出生后发育过程中细胞增殖、死亡和分化所需的特定胞质重排。发育中的神经上皮在神经形成期间具有对于神经形成或神经管闭合必不可少的高水平的自噬,自噬异常时可导致神经管畸形。本文关注于细胞自噬在神经管畸形中作用的研究进展,为当前及今后研究发病机制和预防神经管畸形提供参考。

子宫内膜异位症(EMs)是一种雌激素依赖性慢性炎症性疾病,与不孕症密切相关。然而,EMs影响生育能力的机制尚未完全阐明。有研究证实,细胞焦亡可能在导致EMs女性生殖能力降低方面起着关键作用。细胞焦亡是一种新型的非凋亡程序性细胞坏死形式,其特征在于快速的质膜破裂和促炎内容物的释放。本文综述了细胞焦亡的主要分子机制和最新研究进展,探讨了细胞焦亡与炎症、类固醇激素的关系及其在EMs进展中的作用,分析了细胞焦亡可能通过降低子宫内膜容受性和卵巢储备功能导致EMs相关不孕症。

HtrA系丝氨酸蛋白酶家族,参与许多生理病理过程。HtrA4相对局限表达于胎盘组织,大量研究证明HtrA4在子痫前期(PE)的胎盘或是血液循环中都存在差异,近年通过生物信息学分析出的PE与正常妊娠之间的差异基因也涉及到HtrA4。PE严重影响母儿安全,早期发现和及时治疗至关重要,HtrA4参与PE生理病理的全部机制仍有待研究,深入探讨其与子痫前期的关系有可能为子痫前期的治疗与诊断提供依据。随着国内外对HtrA4参与子痫前期的深入研究,近年的研究结果发现其通过多种机制参与PE,包括抑制血管生成、破坏血管内皮屏障、影响滋养细胞合胞浸润等。本文就HtrA4的结构功能及与子痫前期发病的关系综述。

胃肠道的肠神经系统、黏膜免疫系统和肠道菌群之间存在相互作用,在生理情况下可以维持胃肠道生理稳态;在感染和炎症期间,各系统之间相互诱导发生变化,参与胃肠道病理进程。本文旨在通过文献综述回顾近年来关于胃肠道的肠神经系统 、黏膜免疫系统、肠道菌群在生命早期中的发展,三者之间的动态联系和相互作用,及对胃肠道功能的影响的研究新进展。

本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*7),为移码突变。Helsmoortel-Van der Aa综合征可累及多系统,基因检测有助于诊断。

胆汁淤积性黄疸是脑腱黄瘤病的罕见首发表现之一,报道宁夏地区首例以胆汁淤积性黄疸为首发表现的新生儿脑腱黄瘤病,总结患儿的临床特征、实验室检查和基因检测结果,并结合文献进行复习,旨在提高临床医师对本病的认识。患儿男,46天,主因“皮肤黄染1个月余”入院。血生化示TBil 205.3μmol/L,DBil 154.1 μmol/L,ALT 126 U/L,AST 177 U/L,ALP 613 U/L,GGT 146 U/L,TBA 85.32 μmol/L,提示胆汁淤积性黄疸。超声、核磁、胆道造影检查均未见胆道系统明显异常。基因检测示CYP27A1 c.1184+1G>A、大片段缺失复合杂合变异,确诊为脑腱黄瘤病,给予鹅去氧胆酸治疗,随访近3年,患儿胆红素、肝功能恢复正常,无其他系统异常表现。

回顾性分析1例经新生儿筛查确诊的肉碱棕榈酰转移酶1A缺乏症患儿诊断随访资料,患儿男,生后4天新生儿筛查示游离肉碱升高伴长链酰基肉碱下降,基因检测示CPT1A基因复合杂合突变,给予喂养指导,随访至24月龄未出现临床症状。肉碱棕榈酰转移酶1A缺乏症可筛可治,经早期诊断及合理随访干预总体预后较好,但该病的长期管理及远期预后仍待深入研究。

目的 探讨保守治疗儿童肝外型门静脉瘤的临床价值。方法 回顾性分析2021年1月广州医科大学附属妇女儿童中心肝胆外科收治的1例儿童肝外型门静脉瘤的临床资料。患儿女性,5岁,临床症状表现为腹痛3个月。入院后完善血常规、血生化、凝血功能等实验室检查,腹部超声及CT检查(瘤体大小约3.8 cm×2.9 cm×2.9 cm),诊断为肝外型门静脉瘤。联合超声科、影像科及介入科多学科讨论,制定了不予手术、暂予临床观察保守治疗的策略。门诊定期复查超声检查随访,随访截止2024年2月。结果 随访3年1个月,期间患儿生长发育指标正常,就学、饮食、活动如常,除偶尔出现可以缓解的轻微腹痛外,无腹胀、呕吐、黄疸等其他不适。随访至2年11个月时复查超声结果提示瘤体大小约4.3 cm×3.0 cm×2.9 cm,未见瘤体血栓及继发性门静脉侧枝血管形成。结论 本例为国内首例儿童门静脉瘤个案。对于无瘤体血栓、无明显腹痛等临床症状的门静脉瘤患儿,保守治疗也是一种可供选择的合适方法。

目的 探讨经阴道超声联合盆底肌功能性电刺激治疗在不同孕期增重初产妇盆底功能障碍诊断及康复治疗效果评价中的作用。方法 2020年9月——2022年3月在本院产检分娩且产后早期行盆底肌电刺激治疗的170例初产妇资料,根据孕期增重情况分三组:增重11.5~16 kg组(对照组),增重小于11.5 kg组,增重大于16 kg组。所有产妇在产后首次复诊时及盆底肌电刺激治疗后均行经阴道三维盆底超声检查,比较治疗前后盆底肌电指标及盆底超声指标变化。结果 三组产妇在年龄、孕前BMI等方面比较无统计学差异;产后首次行盆底超声提示,增重大于16 kg产妇组膀胱颈移动度、尿道旋转角、尿道倾斜角、肛提肌裂孔及膀胱后角大于增重小于11.5 kg组及对照组,差异具有统计学意义(P＜0.05),增重大于16 kg组在Valsalva状态下肛提肌裂孔及膀胱后角较增重小于11.5 kg组和对照组,组间差异有统计学意义(P＜0.05);盆底肌电评估提示,三组产妇在快肌阶段得分(F=16.88,P＜0.05)、慢肌阶段得分(F=25.21,P＜0.05)、总得分(F=23.33,P＜0.05)上比较具有统计学差异;治疗后,产妇的膀胱颈移动度、尿道旋转角、Valsalva动作时的肛提肌裂孔面积及膀胱后角均较治疗前小,且盆底肌电评估的总得分较治疗前明显升高,差异均具有统计学意义(P＜0.05)。结论 经阴道分娩初产妇孕期增重过多对其盆底功能影响较大,盆底超声联合盆底肌电刺激治疗对盆底功能评价及恢复具有较好的价值,适当的孕期体重管理对初产妇盆底功能有益。

目的 探讨妊娠期高血压(HDP)患者剖宫产后产褥期感染病原菌分布情况及感染可能因素。方法 按照是否发生感染将2020年1月—2022年1月在西北妇女儿童医院行剖宫产手术的140例HDP剖宫产妇分为感染组(13例)和未感染组(127例);产妇入组后建立档案,由培训通过的研究人员调查产妇的情况(采用专用调查表),首先确定无菌条件,然后专业人员采集感染患者阴道或宫颈分泌物、血液、痰液及尿液,采用全自动微生物鉴定仪分析HDP产妇感染类型及其感染病原菌分布特点;多因素分析HDP患者剖宫产后发生产褥期感染的可能影响因素。结果 共检出16株,革兰阴性菌:大肠埃希菌占比最高,达37.5%(6/16),铜绿假单胞菌次之,占比12.5%(2/16),阴沟杆菌占6.3%(1/16);革兰氏阳性菌:金黄色葡萄糖球菌占25.0%(4/16),表皮葡萄球菌占6.3%(1/16)。感染组与未感染组在产前BMI、妇科炎症、产前胎膜早破、生殖道感染史、手术季节、手术时间、是否接台手术及围术期抗生素使用方面有差异,且有统计学意义(P<0.05);多因素提示,产前BMI、妇科炎症、产前胎膜早破、手术季节、手术时间均是HDP患者剖宫产后发生产褥期感染的影响因素(P＜0.05)。结论 HDP患者产褥感染以大肠埃希菌为主,金黄色葡萄糖球菌次之,产前BMI、妇科炎症、产前胎膜早破、手术季节、手术时间均是HDP患者剖宫产后发生产褥期感染的影响因素。