Objective To investigate the current situation and possible risk factors of caregiver burden of children with autism spectrum disorder (ASD) in China, and provide reference for relevant departments to formulate intervention measures. Methods A cross-sectional study was carried out in the parent communities and rehabilitation centers for ASD children from December 16th, 2022 to February 20th, 2023. A total of 141 caregivers were surveyed, and 114 valid questionnaires were collected. The Chinese version of the Zarit Burden Interview (ZBI) was used to evaluate the caregiver burden among children with ASD. They were divided into no or very light burden (0~20 points), mild burden (21~39 points), moderate burden (40~59 points) and severe burden (60 points and above) according to the total scale score. Multiple linear regression was used to analyze the risk factors with stepwise method. Results The ZBI total score of caregiver burden among children with ASD was (52.8±12.0). 15 cases (13.2%) were of mild burden, 64 cases (56.1%) were of moderate burden, and 35 cases (30.7%) were of severe burden. Family structure, parents′ social support level, delaying work and whether receiving disability subsidies are the influencing factors of the caregiver burden (R²=0.373,F=4.957). Conclusion Caregiver burden generally exists in the families of children with ASD, and most families face moderate to severe care burden. Our findings highlight the importance of improving the accessibility and availability of treatment and rehabilitation services, and providing psychological, social and economic support for caregivers of children with ASD.

褪黑素是一种吲哚类的神经内分泌激素,在调节机体昼夜节律和女性生殖内分泌中起着重要作用。目前越来越多的研究发现,褪黑素受体在生殖器、子宫、乳腺、卵巢及胎盘中均有表达,它具有抗氧化、抗衰老、抗雄激素、抑制细胞凋亡、改善卵母细胞质量的作用,这些作用在女性生殖内分泌调节系统中扮演着重要的角色。本文就褪黑素在女性生殖内分泌疾病中的研究进行综述。

目的 探讨孕早期血清产前筛查指标妊娠相关血浆蛋白A(PAPP-A)、游离β人绒毛膜促性腺激素(F-βhCG)的中位数倍数(MoM)值变化与不良妊娠结局的相关性。方法 回顾性分析2021年1月4日—2022年12月20日在湖南省人民医院生殖医学中心进行早孕期产前筛查1 447例孕妇,排除双胎、拒绝随访及有家族病史或孕前体检有异常的孕妇,最终将在孕9~13⁺⁶周进行产前筛查的871例孕妇选为研究对象,比较不同妊娠结局孕妇的PAPP-A、F-βhCG的MoM值差异;并将PAPP-A、F-βhCG的MoM值的正常异常范围分组,正常范围为PAPP-A MoM≥0.5,0.25≤F-βhCG MoM≤2,异常范围为PAPP-A MoM＜0.5,F-βhCG MoM＜0.25,F-βhCG MoM＞2,比较不同组间不良妊娠结局的发生情况。结果 流产、早产、先兆子痫、妊娠期高血压的PAPP-A MoM值低于正常妊娠孕妇(P<0.05);流产、甲状腺功能减退症的F-βhCG MoM值低于正常妊娠孕妇(P<0.05),产后出血的F-βhCG MoM值高于正常妊娠孕妇(P<0.05);PAPP-A MoM<0.5组不良妊娠结局的发生率明显高于PAPP-A MoM≥0.5组(P<0.05),F-βhCG MoM<0.25组不良妊娠结局的发生率明显高于0.25≤F-βhCG MoM≤2组(P<0.05);PAPP-A MoM值与分娩孕周呈正相关(r=0.07,P=0.045)。结论 孕早期血清产前筛查指标PAPP-A MoM值变化在预测流产、早产、先兆子痫、妊娠期高血压及分娩孕周方面有一定意义;F-βhCG MoM值变化在预测流产、产后出血和甲状腺功能减退症方面有一定的意义。

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。

Objective To study the therapeutic effect of dandelion extract (Shawkea T-1) on ovarian hypofunction and its mechanism. Methods Menopausal transition mice were the intervention group for ovarian hypofunction, and healthy young female mice were the control group. The number of ovarian antral follicles in menopausal transition mice fed with dandelion extract for 30 days was observed. At the same time, human granulosa cell line (KGN) was cultured. The apoptosis of KGN cells was compared after incubation with dandelion extract using flow cytometry,TUNEL and apoptosis PCR array. Results The number of ovarian antral follicles in postmenopausal mice fed with dandelion extract was significantly higher than that in the control group (P<0.01). The apoptosis rate of KGN cells of dandelion extract culture group was significantly lower than that in control group (P<0.05). 20 up-regulated genes and 4 down regulated genes were screened by apoptosis PCR chip (P<0.05). Conclusion In the animal model, dandelion extract can effectively treat the ovarian hypofunction of female mice. The underlying mechanism may be due to the decreasing apoptosis rate of granulosa cells.

为扭转处于低迷状态的生育水平,中国政府积极调整人口生育政策,但逐渐宽松的生育政策并未取得理想的效果,长期的低出生率对中国的人口结构产生了较大的影响。社会的低生育率是个体低生育水平的结果,最根本的原因是“成本-价值”的不平衡对生育决策造成的负向影响。生育成本的提高和生育价值观的改变是育龄人群生育意愿改变的直接动力和深层动因,当前中国育龄人群的低生育意愿和低生育水平正是高看生育成本,低看生育价值的结果。

妊娠期高血压疾病(HDP)是孕产妇发病和死亡的重要原因,HDP在中国的发病率约为4.74%。与产前子痫前期相比,产后子痫前期/子痫可能与更高的孕产妇并发症相关。产后子痫前期的重要性长期以来一直未被充分认识,早期识别产后子痫前期的危险因素、病因,早期诊断及早期处理产后子痫前期对于降低产后孕产妇并发症和死亡率至关重要。本文将从危险因素、病因、临床表现、处理及预后角度对目前产后子痫前期的相关研究进行综述,以期能提高临床医师对产后子痫前期的认识,降低相关并发症及死亡率。

中央性前置胎盘是指妊娠28周以后胎盘组织完全覆盖宫颈内口,与围产期母儿并发症及死亡关系密切,这类患者首选的分娩方式是择期剖宫产。前置胎盘伴植入又加重了产科出血的风险,因此,产前、产后应当采取措施积极预防出血的发生。当患者在产后存在抗凝指征需要抗凝治疗时,抗凝药物的使用与产后出血的预防又存在着潜在的矛盾。本文将报告1例来自广州中医药大学第一附属医院产科分娩的病例,患者为中央性前置胎盘伴植入,剖宫产术前曾行腹主动脉球囊阻断术,在剖宫产术后形成了较大面积的肺栓塞,通过回顾、分析本病例产后肺栓塞发生的相关因素及抗凝治疗措施,旨在提高对产后栓塞性疾病的预防和管理。

Objective To analyze the data of congenital abnormal deaths among children under 5 years old, explore the trend of congenital abnormal deaths from 2016 to 2022. Methods We collect data of child mortality from 2016 to 2022, and analyze the congenital abnormal deaths rate、proportion 、age and regional distribution. Results (1)From 2016(62.3/10⁵)to 2022(34.8/10⁵),the mortality rate of congenital malformations among children under 5 years old in Beijing was significantly decreased —a decrease of 44.1 percent(P＜0.01). The mortality rates of congenital heart disease, neural tube defects, and other congenital malformation were significantly decreased(P＜0.05), while the mortality rate of Down′s synfrome was not decreased(P＞0.05). The proportion of congenital malformations death among children under 5 years old in Beijing was significantly decreased from 23.4%(2016)to 18.1%(2022)(P＜0.05). (2)There are differences in mortality rates among different diseases between urban and suburban areas.The mortality rate of congenital heart disease was significantly decreased in both urban and rural areas(P＜0.01), while the mortality rate of neural tube defects was only decreased in rural area(P＜0.05), the mortality rate of other congenital malformations was only decreased in urban area(P＜0.05). (3)The proportion of deaths caused by congenital abnormalities in the neonatal period continues to decrease, and there are differences in the age distribution characteristics of deaths among different congenital abnormalities. Conclusion The three-level prevention of birth defects in Beijing has achieved significant results, but there are still differences between urban and suburban areas. More targeted measures can be taken in different periods (such as before pregnancy, during pregnancy, and after birth) and regions based on the causes of different congenital abnormalities, differences in suburban areas, and characteristics of age of death, in order to further reduce the mortality rate of congenital abnormalities in children.

Objective To analyze the influence of postpartum weight on postpartum stress urinary incontinence (SUI) after childbirth. Methods Data were collected from January to December 2018 from 6,500 postpartum women undergoing postpartum examinations at Nanjing Maternity and Child Health Care Hospital. Among them, 6,338 women (97.5%) returned valid response questionnaires after being randomly selected for questionnaire surveys and pelvic surface electromyography testing. The 6,338 postpartum women were divided into the postpartum SUI group (540 cases) and the control group (5,798 cases). According to the classification criteria of adult weight determination in the People′s Republic of China Health Industry Standard—Classification of Adult Weight (WS/T 428-2013), participants were classified into underweight (BMI <18.5 kg/m²), normal weight (18.5 kg/m² ≤ BMI <24 kg/m²), overweight (24 kg/m² ≤ BMI <28 kg/m²), and obese (BMI ≥28 kg/m²) groups. The relationship between postpartum weight and postpartum SUI was analyzed, and the severity and impact of SUI on life in different postpartum weight groups were assessed. The pelvic floor electromyography values of the SUI and normal groups with different postpartum weights were compared. Results The incidence of postpartum SUI was 8.5%. The incidence rates of postpartum SUI in the underweight, normal weight, overweight, and obese groups were 6.1%, 8.0%, 9.7%, and 11.0%, respectively. The incidence rate increased gradually with increasing postpartum BMI (P=0.037). Multivariate logistic regression analysis showed that the occurrence of SUI in the postpartum overweight group and postpartum obese group was 1.36 times (95%CI:1.09-1.68) and 1.67 times (95%CI:1.11-2.53) higher, respectively, than that in the postpartum normal weight group. Conclusion Postpartum overweight and obesity are high-risk factors for postpartum SUI. Early management of postpartum weight is beneficial for reducing the risk of postpartum SUI occurrence.

Objective To investigate the regulation of the methyltransferase inhibitor 5-aza-2-deoxycytidine (5-AZA-DC) on trophoblast apoptosis, proliferation, invasion, and migration in preeclampsia. Methods Placental tissue samples were collected from 40 normal pregnancies (normal pregnancy group) and 40 preeclampsia (PE group) patients. Hematoxylin-eosin (HE) staining was performed on the placental tissues after delivery, and whole-genome bisulfite sequencing (WGBS) was conducted on the placental tissues. Trophoblast cell lines HTR8/Svneo, JEG-3, JAR, and BeWo were cultured in vitro and divided into blank control group (Control group), STAT3 silencing group (shSTAT3 group), and STAT3 overexpression group (STAT3OE group). Cells were treated with 5-AZA-DC, and cell apoptosis, proliferation, invasion, and migration were assessed using CCK8, flow cytometry, Transwell invasion assays, and scratch assays. Statistical analysis was performed using t-tests and one-way ANOVA. Results (1) In placental tissue, compared to the normal pregnancy group, the PE group showed reduced vascular lumens, vascular occlusion, blood flow, fibrin deposition in the intervillous stroma, and visible infarction and hyaline degeneration in the villi. WGBS revealed a significant increase in methylation levels in the PE group, with statistically significant differences in the methylation of genes such as STAT3 [(17.25±1.05 vs 30.36±1.33),P＜0.01],PTEN[(13.33±0.71 vs 23.05±1.17),P＜0.02],TSC2[(15.28±1.43 vs 26.53±1.15),P＜0.02]. (2) In the cell lines, compared to the Control group, 5-AZA-DC intervention significantly reduced trophoblast apoptosis while increasing cell proliferation, invasion, and migration. These differences were statistically significant (P＜0.05). Conclusion STAT3 is a key gene in the pathogenesis of preeclampsia.The intervention with 5-AZA-DC intervention has significant effects on trophoblast apoptosis, proliferation, invasion, and migration in preeclampsia. 5-AZA-DC may be a potential epigenetic therapeutic agent for preeclampsia.

Objective To investigate the effects of lactation diet in rats with pre-pregnancy obesity and excessive gestational weight gain on inflammatory and iron-related indicators in the offspring. Methods A total of 24 SPF-rated Wistar female rats were randomly divided into pre-pregnancy obesity group (Pre-obe) and excessive gestational weight gain group (GWG) in a 1:1 ratio, and further divided equally into Pre-obe high-fat diet group (n=6), Pre-obe standard diet group (n=6), GWG high-fat diet group (n=6), and GWG standard diet group (n=6) according to lactation diet. A total of 48 offspring rats were included in the study with 12 rats in each group; they were weaned on the 21st day after birth, and all were fed a standard diet after weaning. Body weights were measured on the days 0, 7, 14, 21, 28, 35 and 42 after birth. Interleukin-6 (IL-6), hepcidin, ferritin, hemoglobin (Hgb), mean corpuscular hemoglobin (Mch), and mean corpuscular volume (Mcv) in the serum/whole blood were measured on the days 28, 35 and 42 after birth. Results Compared with a high-fat diet during lactation, the standard diet significantly reduced the body weight. Compared with a high-fat diet during lactation, the standard diet significantly reduced the level of IL-6 (152.97 pg/mL vs. 105.24 pg/mL on day 28;155.15 pg/mL vs. 110.53 pg/mL on day 35; 155.4 pg/mL vs. 139.02 pg/mL on day 42, P<0.017) and Hepcidin (119.99 ng/mL vs. 99.67 ng/mL, P<0.05), and increased the level of Mch (22.43 pg vs. 23.32 pg, P<0.05) and Mcv (72.71 fL vs. 75.71 fL, P<0.05) of the offspring in Pre-obe. Compared with a high-fat diet during lactation, the standard diet significantly reduced the level of IL-6 (140.21 pg/mL vs. 127.57 pg/mL on day 35, P<0.017), and increased the level of Hgb (107.25 g/L vs. 112.92 g/L on day 35, P<0.017) and Mcv (72.90 fL vs. 74.34 fL, P<0.05) of the offspring in GWG. In addition, the standard diet during lactation significantly reduced the level of Ferritin (50.60 ng/mL vs. 42.06 ng/mL, P<0.05) and Hgb (110.53 g/L vs. 106.28 g/L, P<0.05) of the offspring in Pre-obe. After adjusting for inflammatory indicators (IL-6 and Hepcidin), the effect of lactation diet on multiple iron-related indicators of the offspring in Pre-obe and GWG was no longer statistically significant. Conclusion Our results suggest that the standard diet during lactation in rats with pre-pregnancy obesity and excessive weight gain during pregnancy reduces the inflammatory response and increases the levels of iron-related indicators in the offspring, and the inflammatory response may play a mechanistic role in the association between maternal diet during lactation and iron-related indicators in the offspring.

目的 观察乳酸菌联合氟康唑治疗外阴阴道假丝酵母菌病(VVC)的临床疗效及对阴道免疫状况的影响,为临床治疗提供参考依据。方法 选取2022年1月—6月育龄期VVC患者84例,随机分为观察组及对照组,每组各42例,对照组采用氟康唑治疗,观察组在对照组基础上联合乳酸菌治疗,比较两组症状消失时间、用药安全性、炎性因子、T淋巴细胞亚群和阴道清洁度。结果 (1)观察组患者用药期间阴道瘙痒、疼痛、异常阴道分泌物、黏膜充血、黏膜水肿症状消失时间均低于对照组(P<0.05);两组用药期间恶心呕吐、皮肤过敏、头晕头痛发生率差异均无统计学意义;治疗后6个月观察组复发率均低于对照组(P<0.05);(2)观察组治疗14 d后炎性因子(IL-2、IL-13、TNF-α)水平低于对照组(P<0.05);炎性因子(IL-8、INF-γ)水平高于对照组(P<0.05);(3)观察组用药4周后CD3+T细胞、CD4+T细胞及CD4+T细胞/CD8+T细胞水平高于对照组(P<0.05);CD8+T细胞水平低于对照组(P<0.05);(4)观察组用药14 d后阴道清洁度Ⅰ度、Ⅱ度病例数多于对照组(P<0.05);Ⅲ度、Ⅳ度病例数少于对照组(P<0.01)。结论 乳酸菌联合氟康唑治疗VVC患者能缩短症状消失时间,快速改善患者症状,治疗后6个月VVC的复发率明显降低。该治疗方法能降低炎性因子水平,提升T淋巴细胞水平,提高阴道清洁度,增加阴道局部免疫力。

目的 研究不明原因复发性流产(RPL)患者和正常生育人群人类白细胞抗原(HLA)抗体的状态;检测淋巴细胞免疫治疗(LIT)后HLA抗体的转阳率;对比不明原因RPL患者淋巴细胞免疫治疗后HLA抗体与妊娠结局,评估HLA抗体是否可作为LIT预测妊娠结局的有效指标。方法 选取2014年12月3日至2015年6月10日在北京大学第三医院生殖中心门诊就诊的不明原因RPL患者24例作为RPL组,同期于北京大学第三医院体检中心体检的健康未孕女性30例作为对照组,两组年龄均在20～40岁。应用酶联免疫吸附法和流式细胞仪-微珠法,分别测定不明原因RPL患者LIT前后和健康生育者外周血的HLA特异性IgG抗体,根据HLA抗体状态分为4类,包括HLA-I类阳性、HLA-II类阳性、双阳性(HLA-Ⅰ类、Ⅱ类均阳性)和双阴性(HLA-Ⅰ类、Ⅱ类均阴性),比较两组人群HLA抗体状态,分析LIT后RPL患者HLA抗体的转阳率,及HLA抗体状态与妊娠结局的关系。结果 RPL患者HLA抗体状态与健康生育者比较,差异无统计学意义;LIT促进HLA抗体转阳,LIT后不同HLA状态的活产率比较,差异无统计学意义。结论 不明原因PRL患者,LIT前HLA特异性IgG抗体与正常生育者差异无统计学意义,LIT可以促进HLA抗体转阳,免疫治疗后PRL患者HLA特异性IgG抗体与妊娠结局无关,HLA特异性IgG抗体不能作为LIT预测妊娠结局的唯一参考指标,尚需要结合其他免疫指标综合分析。

Objective To explore the association between 15 current used pesticides (CUPs) in maternal placenta and the risk of fetal neural tube defects (NTDs). Methods A case-control study was conducted among mothers of 308 controls and 150 NTD cases. Concentrations of 15 CUPs in placental tissues were measured by liquid chromatography-mass spectrometry. Multivariate logistic regression and weighted quantile sum (WQS) regression were used to explore the association between placental CUPs and the risk of NTDs. Questionnaire survey was used to collect information on maternal pesticide active exposure history and dietary habits during pregnancy. Results The overall detection rate of 15 CUPs was 89.7% in this study. Multivariate logistic regression showed that high level of flumorph (OR=2.58, 95%CI[1.10-5.90]) was significantly associated with a higher risk of NTDs, and high levels of pyraclostrobin (OR=0.28, 95%CI[0.08-0.86]) and imidacloprid (OR=0.38, 95%CI[0.15-0.90]) were significantly associated with lower risk of NTDs, but the associations were no longer significant after Bonferroni correction. WQS regression did not show any significant combined exposure effect of CUP mixtures on the risk of fetal NTDs (OR=0.69, 95%CI[0.14-3.45]). Conclusion Exposure to CUPs during pregnancy was quite common in this study, but no statistical association was found between placental CUPs and the risk of fetal NTDs.

目的 探讨X染色体非整倍体嵌合对接受体外受精胚胎移植(IVF/ICSI)助孕患者妊娠结局的影响。方法 采用回顾性研究方法,收集83 对女方存在X染色体非整倍体嵌合的夫妇资料,根据异常核型嵌合比例不同分为＜10%组(71例)和＞10%组(12例),以1∶2匹配166对染色体正常的夫妇,统计嵌合比例＜10%组和嵌合比例＞10%两组病例在体外受精胚胎移植患者(IVF-ET)中的年龄、身高、BMI、不孕原因、不孕年限、基础内分泌值、双侧窦卵泡数、 IVF用药方案、当周期移植率、周期取消率、当周临床妊娠率、持续妊娠率和流产率。结果 两个嵌合组与正常对照组的临床妊娠率没有显著性差异,而X染色体非整倍体嵌合的女性,嵌合比例＜10%的低比例嵌合组其流产率显著高于对照组,活婴分娩率显著低于对照组。结论 X染色体非整倍体嵌合比例＜10%的低比例嵌合的女性在妊娠过程中增加了流产的风险。

Objective To investigate the use patterns of antenatal corticosteroids among pregnant women at risk of late preterm birth, and to evaluate the likelihood and influencing factors of administering the treatment at the optimal time (delivery within 2-7 days after the first dose of dexamethasone). Methods A retrospective study was conducted among 155 pregnant women (aged 23-54 years) who gave birth at our hospital between January 2017 and December 2022, who received antenatal corticosteroids during gestational weeks 34-36. 119 pregnant women received antenatal corticosteroids therapy during weeks 34-36 and delivered before 37 weeks, while another 36 pregnant women received antenatal corticosteroids during weeks 34-36 but delivered at term. Based on the indications for antenatal corticosteroid administration, the participants were divided into spontaneous preterm birth risk group (98 pregnant women) and iatrogenic preterm birth risk group (57 pregnant women). The average age of pregnant women in the spontaneous preterm birth risk group were (31.8±4.3) years, and that of the iatrogenic preterm birth risk group was (32.2±3.9) years. The timing of antenatal corticosteroid administration and maternal characteristics were compared between the two groups. Multivariable logistic regression was conducted to adjust for confounding factors and assess the factors associated with optimal timing of antenatal corticosteroid administration. Results The prevalence of optimal timing of antenatal corticosteroid administration was 29.7%. The proportion of women receiving corticosteroids at the optimal time in the iatrogenic preterm birth group was significantly higher than in the spontaneous preterm birth (P＜0.05). Compared to the iatrogenic preterm birth, women in the spontaneous preterm birth were more likely to have a delivery interval > 7 days after the administration of antenatal corticosteroids (P＜0.05) and had a higher probability of delivering at full term (P＜0.05). Logistic regression analysis revealed that women in the iatrogenic preterm birth group were 8.68 times more likely to receive antenatal corticosteroids at the optimal time than those in spontaneous preterm birth (95% CI:2.69-28.02). Additionally, women with premature rupture of membranes were 4.09 times more likely to receive antenatal corticosteroids at the optimal time than those without premature rupture of membranes (95% CI:1.24-13.45). Conclusion Regardless of the indication for late preterm antenatal corticosteroid administration, the likelihood of pregnant women at risk of late preterm birth receiving optimal timing of antenatal corticosteroid administration was low. However, women with risk of iatrogenic preterm birth were more likely to receive antenatal corticosteroid at the optimal time of administration. In addition, premature rupture of membranes is also a factor influencing the timing of optimal antenatal corticosteroid administration.

目的 探讨胎盘植入性疾病(PAS)产前漏诊病例的临床特征、高危因素和围产结局。方法 收集2015年1月至2021年12月本院收治的319例PAS孕妇的临床资料,其中产前漏诊60例,产前诊断259例,比较两组患者的临床特征、胎盘植入高危因素和围产结局。结果 与产前诊断组相比,产前漏诊组前置胎盘发生率低,胎盘植入程度轻,IVF-ET术和宫腔镜手术史是产前漏诊PAS的独立危险因素(P均＜0.05)。产前漏诊组产时/术中出血、严重产后出血率、血液制品用量、子宫切除率、转入ICU、新生儿早产率均低于产前诊断组(P均＜0.05),但两组二次手术率、大量输血率、手术并发症无差异。结论 不伴有前置胎盘的PAS产前漏诊率高,IVF-ET术和宫腔镜手术史是产前漏诊PAS的独立危险因素,可发生严重的围产期并发症。

目的 分析复发性流产(RSA)患者的血清抗缪勒管激素(AMH)水平变化与疾病临床特征和TH因子间的关系,为RSA患者开展卵巢储备功能评估的必要性提供依据。方法 收集2020年10月—2022年7月来本院就诊的105例RSA患者作为RSA组,同期在本院生殖中心因男方因素或输卵管因素行辅助生殖技术助孕无自然流产史的136例健康女性作为正常对照组,两组人群均排除饮酒及吸烟史,年龄在20～40岁之间。RSA组根据能否查出原因分为已知原因RSA组(ERSA)和不明原因RSA组(URSA)。采用电化学发光法和流式细胞技术分别测定外周血清AMH值(ng/mL)和淋巴细胞因子的浓度(pg/mL)。结果 RSA组总体AMH水平、≤30岁、＞35岁两个年龄段的AMH水平均低于正常组(P＜0.05),URSA AMH 水平低于正常组和ERSA组(P＜0.05),RSA组卵巢储备功能减退(DOR)发生率高于正常组(P＜0.05)。不同妊娠丢失类型间的AMH水平有差异(P＜0.05)。与流产2次的RSA患者相比,流产≥3次的AMH水平降低、DOR发生率增高(P＜0.05)。AMH对RSA诊断的AUC为0.647,截断值为1.7 ng/mL(P＜0.05)。RSA组及URSA组TNF-α、TNF-α/IL-4、TNF-α/IL-10与AMH负相关(P＜0.05);URSA组AMH还与IFN-γ/IL-4、IFN-γ/IL-10负相关,与IL-4正相关(P＜0.05)。结论 RSA患者中AMH水平显著降低,RSA患者评估中应考虑增加卵巢储备功能测试。

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 探讨腹腔血hCG(RP_hCG)与静脉血hCG(V_hCG)比值(RP_hCG/V_hCG)在异位妊娠诊治中的应用价值。方法 统计分析广东省妇幼保健院妇科2020年1月至2022年9月收治的582名可疑异位妊娠同时合并有盆腔积液患者的临床资料,包括一般情况、静脉血hCG、腹腔血hCG及两者比值(RP_hCG/V_hCG)、治疗方式、术后诊断及预后等。582名患者中异位妊娠568例作为异位妊娠组,宫内妊娠14例作为宫内妊娠组,重点分析两组患者RP_hCG/V_hCG比值,比值大于＞1或比值≤1,治疗过程,术后诊断及预后。结果 异位妊娠组中位RP_hCG/V_hCG为15.4(4.1～48.1),宫内妊娠组中位RP_hCG/V_hCG为0.6(0.5～0.8),差异具有统计学意义(Z=﹣6.2,P<0.01)。以RP_hCG/V_hCG ＞1为诊断标椎,其诊断异位妊娠的灵敏度为96.1%,特异度为100%,阳性预测值100%,阴性预测值38.9%,总的诊断符合率96.2%,ROC曲线下面积为1.0。RP_hCG/V_hCG ＞1,基本可诊断异位妊娠。RP_hCG/V_hCG ＜1,宫内妊娠合并腹腔内出血可能性大,异位妊娠的诊断需谨慎。结论 腹腔血hCG与静脉血hCG比值在合并腹腔内出血的异位妊娠患者的诊治中发挥重要作用。

目的 分析产时胎心减速数学特征(减速持续时间比例与单位时间减速区面积)对围产期缺氧情况的预测价值。方法 2022年1月—2023年4月北京市民航总医院分娩的150例产妇,分为胎儿窘迫组(n=57)、新生儿窒息组(n=5)和正常组(n=88)三组。记录所有入组产妇的一般资料,包括年龄、孕周、孕产次、新生儿出生体重、胎盘脐带情况、羊水性状、Apgar评分、产时胎心监护情况,新生儿分娩时脐动脉血气结果。结果 胎儿窘迫组及新生儿窒息组羊水污染率明显高于正常组。胎儿窘迫组及新生儿窒息组手术助产率明显高于正常组。单位时间重度变异减速个数、减速持续时间比例和单位时间减速区面积在三组间差异有统计学意义。结论 以减速持续时间比例和单位时间减速区面积为基础,可在今后的研究中建立产时胎心监护与新生儿结局的数学模型指导临床。

目的 研究多种遗传代谢病新生儿筛查初筛可疑阳性的早产儿转归及远期心理行为发育情况。方法 2020年12月1日至2021年11月30日出生的早产儿186例,通过干血斑检测氨基酸、酯酰肉碱谱,筛查多种遗传代谢病,并在高危儿门诊系统随访,在矫正月龄6月龄和12～18月龄分别进行盖塞尔(Gesell)法神经心理评估。根据氨基酸、酯酰肉碱谱检测结果分为初筛可疑阳性组和阴性组。结果 早产儿186例中初筛可疑阳性75例,阴性111例。初筛可疑阳性的早产儿中氨基酸代谢异常占50.0%,脂肪酸代谢异常占43.4%,有机酸代谢异常占6.6%。其中前五位可疑阳性异常的指标有精氨酸升高(占25.5%)、游离肉碱升高(占15.1%)、蛋氨酸升高(占12.3%)、十八碳酰肉碱降低(占11.3%),异戊酰肉碱升高(占7.6%)。与多种遗传代谢病初筛阴性组比较,初筛可疑阳性组早产儿矫正月龄6月龄时大运动发育商和个人社会发育商落后,差异有统计学意义(P＜0.05),母亲孕32~36周早产儿中初筛可疑阳性的早产儿在矫正月龄6～18月龄Gesell神经心理评估无差异性(P>0.05)。母亲孕25~31周早产儿中初筛可疑阳性组矫正6～18月龄Gesell评估结果在精细发育商、适应性发育商和语言发育商方面落后,差异有统计学意义(P＜0.05)。结论 血液氨基酸、酯酰基肉碱谱初筛可疑阳性的早产儿半岁内大运动和个人社会发育落后,母亲孕25~31周早产儿矫正6～18月龄在适应性发育商和语言发育商方面落后。

目的 评估单胎妊娠不同指征宫颈机能不全患者行宫颈环扎术的临床效果。方法 回顾性分析 2016 年 01 月至 2022 年 06月于首都医科大学附属北京友谊医院产科收治的因宫颈机能不全行Mcdonald 宫颈环扎术治疗的51例患者临床资料,根据手术指征分为预防性环扎17例,治疗性环扎组34例,对各组妊娠结局及新生儿进行评估。结果 治疗性环扎组34例,其中足月分娩19例,早产7例,晚期流产8例;预防性环扎组17例,其中足月分娩13例,早产3例,晚期流产1例;预防性环扎组的分娩孕周、延长孕周、环扎孕周及晚期流产与治疗性环扎组相比,差异均有统计学意义。结论 预防性宫颈环扎术和治疗性宫颈环扎术均能延长妊娠孕周,能降低流产或早产的发生风险。

Objective To conduct genetic analysis and preimplantation genetic testing for monogenic disorders(PGT-M) in a family with Angelman syndrome. Methods We included a family with Angelman syndrome who visited the Reproductive Department of Zhongshan Hospital Affiliated to Fudan University in April 2023. Methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA) method was used to verify the SNRPN u5 deletion and methylation abnormalities in the 15q11.2-q13 region of the family. The ASA array was used to detect the single nucleotide polymorphism(SNP) sites of the family and construct a haplotype. In vitro fertilization was performed using intracytoplasmic sperm injection technology, followed by embryo biopsy on the third day of cleavage stage. Single cell whole genome amplification, second-generation sequencing, and SNP linked haplotype analysis were used to detect whether the embryo carried SNRPN u5 genetic variations in the 15q11.2-q13 imprinted region and chromosomal copy number variations(CNVs) of 4 Mb or more. Results The results showed that the proband and the younger brother had SNRPN u5 copy number deletion and methylation abnormalities in the 15q11.2-q13 imprinting region. The copy number deletion was inherited from the mother, and the mother had a 15q11.2-q13 SNRPN u5 copy number deletion. However, the mother's methylation status was normal. After successfully constructing a haplotype in the family, one cleavage embryo was obtained through clinical ovulation induction. The PGT-M results showed that the embryo carried pathogenic SNRPN u5 mutations inherited form the mother and had multiple chromosome copy number abnormalities. The embryo transfer is thus not recommended. Conclusion PGT-M technology can assist in reproductive intervention and prevent the birth of Angelman syndrome patients in their families, and is an important way to assist families with monogenic genetic diseases in eugenics.

Objective To explore the effect of circadian rhythm disruption on the expression of rhythm gene CLOCK in endometrial cancer and its possible promoting mechanism during the disease progression. Methods According to the patient's age, gravidity and parity, occupational history, educational background, environmental factors, and other background matching, 6 cases of endometrioid adenocarcinoma with a history of night shift work were selected as the abnormal rhythm group, and 6 cases without a history of night shift work were selected as the normal rhythm group. qPCR and Western blot were used to detect the expression of CLOCK mRNA and protein in the two groups. Immunohistochemistry was used to detect the expression of CLOCK and epithelial-mesenchymal transformation related phenotypic proteins(E-cadherin and vimentin) in 32 cases of endometrioid adenocarcinoma, than analyzed the relationship between the expression and clinicopathological features, and the correlation between CLOCK expression and epithelial-mesenchymal transformation related phenotypic protein. Results The results of qPCR and Western blot showed that the relative expression levels of CLOCK mRNA and protein in abnormal rhythm group were significantly lower than those in normal rhythm group(P<0.05). Immunohistochemistry indicated that the negative rate of E-cadherin and CLOCK, the positive rate of vimentin were higher in the tumors with night shift work history, FIGO stage II-III and deep muscle infiltration, and the difference was statistically significant (P<0.05).The correlation between CLOCK expression and E-cadherin, vimentin in endometrioid adenocarcinoma tissue specimens was statistically significant, (P<0.05). Conclusion The disruption of circadian rhythm caused by night shift down-regulates the expression of CLOCK gene in endometrioid adenocarcinoma tissues. The involvement of CLOCK gene in epithelial-mesenchymal transformation process of tumor tissues is a possible mechanism of endometrioid adenocarcinoma progression and may be an important factor affecting prognosis.

Objective To explore factors that influence the follow-up compliance of high-risk infants and improve the follow-up and management strategy of the high-risk infants. Methods A total of 675 high-risk infants who were under 2 years old and admitted to the outpatient department of the Children`s Health Department of a hospital in Hohhot from 2019 to 2021 were included. Results In total, 49.6%(335/675) of the high-risk infants had high follow-up compliance. Multivariable logistic regression analysis showed that several factors including local residence, multiple high-risk factors, higher mother's education, and multiple caregivers were associated with high follow-up compliance. Conclusion Popularizing parenting knowledge, enhancing parents' health care awareness, strengthening the training of health care providers especially those of primary health care providers, improving child health care capacity, and providing accessible and convenient health care services might improve the follow-up compliance as well as health of high-risk infant.

Objective To study the change of serum metabolite profiles in pregnant mice with embryos occurring neural tube closure failure, and the possible role of histone modification in the development of neural tube defects(NTDs) induced by benzo[a]pyrene(BaP). Methods Pregnant ICR mice were classified into BaP exposure group and control group, which were treated by intraperitoneal injection of BaP or corn oil at gestational day(GD) 7-9. The serum of pregnant mice and embryos were collected at GD 9.5. Based on the phenotype of the embryos, the BaP exposure group was further classified into BaP_NTDs group and BaP_nonNTDs group. Ultra-performance liquid chromatography-mass spectrometry was used to detect serum metabolites, and the differences of metabolites between the two groups were compared. We further annotated metabolic pathways of the different serum metabolites in Kyoto Encyclopedia of Genes and Genomes(KEGG) database. RNA-seq and CUT&Tag were used to assay the genome-wide gene expression and the histone modifications of H3K27me3 and H3K27ac of embryonic neural tissues to explore the possible genes and histone modifications responsible for the NTDs based on the identified metabolic pathways. Results Compared to the control group, 44 differential metabolites were found in BaP_NTDs group. Compared to the BaP_nonNTDs group, 11 differential metabolites were found in BaP_NTDs group. The LysoPC(0:0/18:2(9Z,12Z)) was uniquely up-regulated in BaP_NTDs group. Pentose phosphate pathway was enriched both for the BaP_NTDs/control differential metabolites and BaP_nonNTDs/control differential metabolites. Further, the RNA-seq and CUT&Tag data of embryonic neural tissues revealed that the expression of Aldob in the BaP_NTDs group, one of the key genes involved in the pentose phosphate pathway, was 31.06 fold-change of that in the control group, and 9.68 fold-change of that in the BaP_nonNTDs group. They both had a higher peak of H3K27ac modification in the promoter of the gene. Conclusion LysoPC(0:0/18:2(9Z,12Z)) might be the key differential metabolite in the serum of pregnant mice with NTD embryos induced by BaP, and the histone modifications of Aldob in pentose phosphate pathway might be one of the underlying mechanisms.

Objective Using murine and cell models to explore the effects of Li₂CO₃ on the cell cycle during mouse embryonic neural development. Methods According to the Li₂CO₃-induced NTDs murine mode which we have established, 350mg/kg Li₂CO₃ was injected intraperitoneally into the C57BL/6J pregnant mice on embryonic day 7.5. The development of the offspring were observed. Li₂CO₃ in different concentrations(0.5,1,1.5, 2, 2.5, 3, 5 and 10mM) were used to treat the NE4Cs and NIH3T3. Cell survival, proliferation and cell cycle were detected by methylthiazolyldiphenyl tetrazolium bromide, 5-ethynyl-2-deoxyuridine labeling and flow cytometry. The quantitative real-time polymerase chain reaction and western blotting used to detect the expressions of cell cycle key genes. Results 350mg/kg Li₂CO₃ affected embryonic development. The incidence of NTDs was 32.7%(18/55). Treatment with the low concentration of Li₂CO₃ in NE4Cs and NIH3T3 cells increased cell survival, reduced the cells in G1 phase, most cells were in S and G2/M phases and promoted cell proliferation. Both in mice and cells models, the expressions of cell cycle key genes cyclin A, cyclin D1, Cdk2 and Cdk4 increased after Li₂CO₃ treatment(P<0.01). Conclusion Li₂CO₃ disturbed the cell cycle to cause abnormal cell proliferation leading to NTDs by up-regulating the expression of cell cycle key genes cyclin A, cyclin D1, Cdk 2 and Cdk 4.

Objective To explore the effects of the interventions on improving caregivers' family rearing practices of left-behind children(LBC)under 3 years old. Methods The Integrated Early Childhood Development(IECD) project was implemented in 80 villages of four counties in Shanxi and Guizhou provinces from July 2014 to December 2016, which provided integrated interventions of feeding and responsive care for children under 3 years old. A quasi-experimental design was applied in our study to evaluate the effect of intervention on the family rearing attitude and practice of caregivers of left-behind children under three years old.. The baseline and post-intervention survey data of the Integrated Early Childhood Development(IECD) project were used to carry out the study in July-Sep of 2013 and 2016, respectively. The baseline survey included 695 cases in the intervention group, 478 cases in the control group, 740 cases in the post-intervention survey and 514 cases in the control group. Adifference-in-difference model was used to estimate the effects analyze the relationship between intervention dose and nursing practice, and control for confounding factors such as sociodemographic characteristics. Results After two years' intervention, the proportion of undertaking responsive caregiving among caregivers in the intervention group increased from 74.1%(515/695) at baseline to 79.2%(585/739) after intervention with an increase of 5.1%,. The proportion of responsive care in the control group decreased by 29.3% over the same period. After controlling for confounding factors with difference-difference model, the intervention significantly improved the response care received by left-behind children(OR:13.11; 95%CI:7.06-25.35). The proportion of undertaking violent disciplinary practices decreased by 10.9%(baseline:52.7%(366/695); post-intervention:41.8%(309/739) in the intervention group, which was lower than that in the control group(aOR:0.57; 95%CI:0.40-0.82). But no significant improvement was found in the ownership rate of books, toys, experiencing inadequate supervision, and the caregivers' attitude towards physical discipline of left-behind children. Compared to the frequency of intervention less than once a month, the intervention at a frequency of at least once a month but less than once a week was associated with improving responsive care and violent care practices(P<0.05). Conclusion The integrated interventions effectively improved the caregivers' responsive care and violent disciplinary behaviors. Intervention should be at a frequency of no less than once a month, to promote good rearing care practices by caregivers.

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。

Objective To describe the characteristics of pre-hospital emergencies, disease parity, and cause of death parity among children and adolescents aged 3-17 years in Yantai in the past 6 years. Methods All case data of children and adolescents aged 3-17 years from 2016-2021 in the pre-hospital emergency electronic medical record system of Yantai 120 Emergency Command Center were selected for analysis, and the student population data of each year provided by Yantai Education Bureau were used as the denominator to calculate the prevalence and mortality of children's pre-hospital emergencies, and to describe the distribution characteristics of different time(year), different regions(urban and rural), and different populations(gender and school periods). Results The annual prevalence of pre-hospital emergencies was 501.8-600.2/100,000 for boys and 361.7-431.6/100,000 for girls aged 3-17 years in 2016-2021, increasing yearly between 2016-2019, decreasing in 2020 and rebounding in 2021. Among the school periods, senior students had the highest annual prevalence(919.9-1058.6/100,000), while junior students had the lowest annual prevalence(275.5-357.6/100,000). Longkou and the Development Zone had the highest annual prevalence(>500/100,000), while Haiyang and Qixia had lower annual prevalence(304.2-467.3/100,000). The mortality rate for boys showed a decline followed by stabilization, with a fluctuation range of 7.5-10.0/100,000, and for girls showed a rise followed by a decline and stabilization, with a fluctuation range of 3.6-5.6/100,000. Accidental injuries accounted for 56.1% of pre-hospital emergencies, with drowning, traffic injuries and fall injuries as the top three causes of death; roads and homes were the main incident sites. The gender differences, school periods and urban and rural area differences for different injuries and different diseases were statistically significant. Conclusion The overall prevalence of pre-hospital emergencies among children and adolescents aged 3-17 years in Yantai City in 2016-2021 for both genders showed a fluctuating upward trend, and the mortality rate was stable, with increased prevention and control efforts for the types of such as accidental injuries, enhanced school-related health and safety education, and joint efforts of family, school, and community to prevent and reduce the occurrence of emergencies especially injuries.

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。

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。

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。

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。

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。

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。