目的  探讨精子DNA碎片指数（DFI）对体外受精-胚胎移植（IVF-ET）胚胎发育及妊娠结局的影响，为优化男性生育力评估及辅助生殖治疗策略提供依据。方法  回顾性分析2023年1月—2024年1月于徐州市妇幼保健院接受IVF-ET治疗的126对不孕夫妇，根据男方DFI检测结果分为低碎片组（DFI≤15%，n=42）、临界组（15%＜DFI＜30%，n=45）和高碎片组（DFI≥30%，n=39）。比较三组患者受精相关指标、胚胎发育指标及妊娠结局指标的差异，并分析DFI与各指标的相关性。结果  低碎片组双原核率（2PN）率、优质胚胎率及囊胚形成率均高于临界组和高碎片组（P＜0.001），低碎片组1PN率、多PN率均低于临界组和高碎片组（P＜0.001）；三组种植率、临床妊娠率、早期流产率比较差异无统计学意义（P＞0.05），但高碎片组活产率低于低碎片组（P＜0.05）。相关性分析结果表明，DFI与优质胚胎率（r=-0.412，P＜0.001）、囊胚形成率（r=-0.387，P＜0.001）、活产率（r=-0.287，P=0.012）呈负相关，与早期流产率（r=0.206，P=0.059）、种植率（r=-0.215，P=0.058）、临床妊娠率（r=-0.203，P=0.072）无显著相关性。结论  精子DNA碎片指数是影响IVF-ET胚胎发育及妊娠结局的重要因素，高DFI主要通过降低胚胎发育潜能及增加流产风险导致活产率下降，临床需对高DFI患者进行干预以改善治疗结局。

       Objective  To investigate the impact of sperm DNA fragmentation index（DFI）on embryo development and pregnancy outcomes of in vitro fertilization-embryo transfer（IVF-ET），and to provide a basis for optimizing male fertility assessment and assisted reproductive treatment strategies．Methods  A retrospective analysis was performed on 126 infertile couples undergoing IVF-ET treatment at the Reproductive Medicine Center of Xuzhou Maternal and Child Health Hospital from January 2023 to January 2024．According to the male DFI test results，they were divided into three groups：low fragmentation group（DFI≤15%，n=42），critical group（15% ＜ DFI ＜ 30%，n=45），and high fragmentation group（DFI≥30%，n=39）．Differences in fertilization-related indicators，embryo development indicators，and pregnancy outcome indicators were compared among the three groups，and the correlation between DFI and each indicator was analyzed．Results  The 2 pronuclei rate（PN）rate，high-quality embryo rate，and blastocyst formation rate in the low fragmentation group were significantly higher than those in the critical and high fragmentation groups（P＜0.001）．The 1PN  rate and multi-PN  rate in the low fragmentation group were significantly lower than those in the critical and high fragmentation groups（P＜0.001）．There was no significant difference in the three groups of implantation rate，clinical pregnancy rate and early abortion rate（P＞0.05），but the live birth rate of high fragment group was significantly lower than that of low fragment group（P＜0.05）．The results of correlation analysis showed that DFI was significantly negatively correlated with the rate of high quality embryos（r=-0.412，P＜0.001），blastocyst formation rate（r=-0.387，P＜0.001）and live birth rate（r=-0.287，P=0.012），but not with the rate of early abortion（r=0.206，P=0.059），implantation rate（r=-0.215，P=0.058）and clinical pregnancy rate（r=-0.203，P=0.072）．Conclusions  Sperm DFI is an important factor affecting embryo development and pregnancy maintenance in IVF-ET．High DFI leads to a decrease in live birth rate mainly by reducing embryo developmental potential and increasing the risk of early abortion．Clinically，early intervention is needed for patients with high DFI to improve treatment outcomes．

       纤毛是细胞表面的重要细胞器，广泛参与细胞运动、感知外界信号和维持器官功能等生理过程。纤毛的形成，即纤毛发生（ciliogenesis）是一个高度复杂且受精密调控的过程，涉及大量与纤毛结构和功能相关基因的表达与调控。近年来，随着基因组学和发育生物学的发展，越来越多的研究揭示了多种关键转录因子在纤毛发生中的调控作用，包括RFX家族、FOXJ1、MCIDAS、GEMC1、MYB、E2F等。这些转录因子共同构成了一个多层次、多通路交织的调控网络，调控纤毛组装、基体复制、纤毛定位和功能维持等多个方面。本文系统综述了纤毛相关基因转录调控的研究进展，特别是关键转录因子的功能、相互作用及其在纤毛病中的作用，为深入理解纤毛的发育机制和疾病治疗提供参考。

       Cilia are crucial cell-surface organelles involved in cell movement，signal sensing，and organ function maintenance．Their formation，or ciliogenesis，is a complex and  precisely controlled  process that  requires the expression and regulation of numerous cilia-related genes．Recent advances in genomics and developmental biology have uncovered the  regulatory roles of key transcription factors like the RFX family，FOXJ1，MCIDAS，GEMC1，MYB，and E2F in ciliogenesis．These factors form a multi-level，interconnected regulatory network that oversees cilium assembly，basal body replication，ciliary positioning，and function preservation．This review systematically examines current research on transcriptional regulation of ciliary genes，with a focus on the roles，interactions，and contributions of these key transcription factors to ciliopathies，offering insights into ciliary development and disease treatment．

目的 探讨振幅整合脑电图（aEEG）联合头颅磁共振成像（cMRI）对早产儿矫正12月龄时神经发育的预测价值。方法 选取110例早产儿为研究对象,并在矫正12月龄时采用Gesell 发育量表评估发育商（DQ）,依据DQ分为Gesell 正常组（DQ≥85,n=83）、Gesell 异常组（DQ<85,n=27）。采集早产儿及母亲临床资料,对比两组出生后72 h内aEEG、矫正胎龄37周时cMRI检查指标差异。结果 两组早产儿及母亲基线资料比较差异无统计学意义（P>0.05）。相较于Gesell 正常组,Gesell 异常组双顶径（BPW）降低[（70.68±5.32）mm vs（66.54±3.69）mm],睡眠-觉醒周期（SWC）不成熟率（20.48% vs 85.19%）、aEEG异常率（30.12% vs 70.37%）、两半球间距（IHD）增高[（2.95±0.83） mm vs（3.56±0.72）mm]（P<0.05）。Pearson相关分析结果显示,DQ值与IHD呈负相关,DQ值与BPW呈正相关（r=-0.361、0.598,P<0.05）。二元Logistic回归分析结果显示,BPW增高是Gesell 异常的独立保护因素（P<0.05）,IHD增高、SWC不成熟及aEEG异常是Gesell 异常的独立危险因素（P<0.05）。结论 早产儿出生后72 h内aEEG异常、矫正胎龄37周时cMRI异常可能提示矫正12月龄时不良神经发育结局。

Objective To evaluate the predictive value of amplitude-integrated electroencephalogram combined with cranial magnetic resonance on neurodevelopment for preterm infants at corrected age of 12 months．Methods A total of 110 preterm infants were selected as study subjects,and Gesell developmental scale was used to evaluate developmental quotient（DQ）at corrected age of 12 months．According to DQ,they were divided into normal Gesell group（DQ≥85,n=83）and abnormal Gesell group（DQ<85,n=27）．Clinical data of preterm infants and their mothers were collected,and the differences of amplitude-integrated electroencephalogram and cranial MRI（cMRI）were compared between two groups．Results There was no significant difference in baseline data between two groups（P>0.05）．Compared with the normal Gesell group,the biparirtal width（BPW）in the abnormal Gesell group was decreased（70.68±5.32mm vs 66.54±3.69mm）,the immaturity rate of sleep-wake cycle（SWC）（20.48% vs 85.19%）,the abnormal rate of aEEG（30.12% vs 70.37%）,and（IHD）（2.95±0.83mm vs 3.56±0.72mm）were increased（P<0.05）．The results of Pearson correlation analysis showed that DQ was negatively correlated with IHD,and DQ was positively correlated with BPW（r=-0.361、0.598,P<0.05）．Binary Logistic regression analysis showed that increased BPW was an independent protective factor for abnormal Gesell（P<0.05）,and increased IHD,immature SWC and abnormal aEEG were independent risk factors for abnormal Gesell（P<0.05）．Conclusions Abnormal aEEG within 72h after birth and abnormal cMRI at corrected age of 37 weeks may lead to adverse neurodevelopmental outcomes at corrected age of 12 months．

目的 探讨早产儿语言-社会行为情况及其影响因素,研究语言-社会行为发育与智能发育之间的关系,为早产儿保健提供指导。方法 采用自制的一般情况问卷对125例早产儿开展随访、追踪,直至2岁时,采用盖泽尔发展量表（GDS）进行语言-社会行为及智能发育评估。结果 早产儿语言发育正常43例（34.4%）,社会行为发育正常40例（32%）。早产儿语言发育商平均为（67.99±25.75）,社会行为发育商平均为（67.75±23.98）,处于发育低下水平。性别、脑出血病史、定期随访史、康复干预史、家庭干预史在语言、社会行为方面比较差异均无统计学意义（P>0.05）。不同胎儿期安胎史、胎龄、出生体质量在语言、社会行为方面比较差异有统计学意义（P<0.05）;且胎儿期反复安胎,胎龄小,出生体质量低,语言及社会行为发育较差。与出生时无中-重度窒息史的患儿相比,出生时有中-重度窒息的患儿存在更多的语言发育异常,比较差异有统计学意义（P<0.05）;但在社会行为发育方面比较差异无统计学意义（P>0.05）。语言-社交行为发育落后的同时,早产儿的大运动、精细动作、适应性行为也存在落后,五大能区比较差异并均有统计学意义（P<0.05）。结论 多数早产儿存在语言-社会行为发育落后,其同时可能伴有更多的运动和适应行为发育问题;语言-社交行为发育落后的患儿在胎儿期存在反复安胎且胎龄较小、出生体质量更低或有中-重度窒息史。对早产儿的语言-社会行为要及时给予关注,早期发现并早期干预,改善预后。

Objective To explore the language-social behavior of preterm infants and its influencing factors,to study the relationship between language-social behavior development and intellectual development,and to provide guidance for preterm infants' health care．Methods A self-administered general questionnaire was used to follow up 125 preterm infants until the age of 2 years,and Gesell development scale（GDS）was used to assess their language-social behavior and intellectual development．Results Preterm infants had normal language development in 43 cases（34.4%）and normal social behavioral development in 40 cases（32%）．The mean language development quotient of preterm infants was（67.99±25.75）and the mean social behavioral development quotient was（67.75±23.98）,which was at the low developmental level．There were no significant differences in gender,history of cerebral hemorrhage,regular follow-up,rehabilitation intervention,family intervention and language or social behavior（P>0.05）．Infants with different fetal age history,gestational age,and birth weight varied significantly in language and social behavior（P<0.05）;and with repeated miscarriage,small gestational age,low birth weight,showed poor language and social behavior development．Compared the children with and without moderate to severe asphyxia at birth,there was statistically significant differences in language development（P<0.05）,but in social behavior there was no significant difference（P>0.05）．The backward development of language-social behavior was accompanied by backwardness in gross motor,fine motor,and adaptive behavior in preterm infants,and the differences in the five major domains were all present and statistically significant（P<0.05）．Conclusions A major of preterm infants have poor language-social behavior development,which may be accompanied by more motor and adaptive behavior development problems;children with poor language-social behavior development have repeated miscarriage prevention at younger gestational ages,lower birth weights,or a history of moderate-to-severe asphyxia during the fetal period．It is important to give timely attention to language-social behavior in preterm infants for early detection and early intervention to improve prognosis．

目的 探讨分析利用坐式DR轮椅辅助精神发育迟滞患儿胸部DR体检的图像质量。方法 2020年7月—2021年2月,共80例精神发育迟滞患儿纳入本研究。根据协助拍片的方式不同,分为坐式DR轮椅协助组(实验组)和医护人员抓扶协助组(对照组)。采用SPSS 20.0秩和检验分析2组图像质量的差异。结果 2组摄片图像差异有统计学意义(P<0.001)。坐式DR轮椅协助精神发育迟滞患者的胸部DR体检图片质量较高,废片率低。结论 坐式DR轮椅协助精神发育迟滞患儿胸部DR摄片图片的质量高,避免重复拍片的几率,为精神发育迟滞患儿及家属减少不必要的辐射风险提供了可靠方案。

Objective To explore and analyze the image quality of chest DR examination of children with mental retardation using DR wheelchair. Methods From July 2020 to February 2021, a total of 80 children with mental retardation were included in this study.According to different ways of assistance in examination, they were divided into seated DR wheelchair assisting group (experimental group) and medical staff assisting group (control group).The SPSS 20.0 rank sum test was used to analyze the difference in image quality between the two groups. Results The difference of radiographic images between the two groups was statistically significant (P<0.001).Seated DR wheelchairs assisted patients with mental retardation were with high quality and low rejection rate in their chest DR examination pictures. Conclusions DR wheelchair could help children with mental retardation to take chest DR pictures with high quality, avoid the probability of repeated examination, and provide a reliable method for children with mental retardation and their families to reduce the risk of unnecessary radiation.

目的 探讨体外受精治疗中第3天(D3)不同质量卵裂期胚胎培养至囊胚的发育潜能,为囊胚培养提供实验室依据。方法 对2015年4月—2019年4月D3移植或冷冻后剩余行囊胚培养的5 510枚胚胎进行了回顾性分析。按D3胚胎质量、卵裂球数目、均一性及碎片率分组,比较囊胚形成率,优质囊胚形成率及可利用囊胚形成率,并分析各因素与可利用囊胚形成的相关性。结果 D3优质胚胎的囊胚形成率,优质囊胚形成率及可利用囊胚形成率与非优质胚胎组相比有统计学差异(P＜0.05);4-6细胞组及＜4细胞组与7-9细胞组相比有统计学差异(P＜0.05),但融合期胚胎(CP)组及＞ 9细胞组与7-9细胞组相比差异无统计学意义;卵裂球大小差异(+)组和(++/+++)组与卵裂球大小均匀(-)相比有统计学差异(P＜0.05); 10%～25%组及碎片＞25%组与碎片≤10%组相比有统计学差异(P＜0.05)。 Logistic分析结果表明,D3胚胎质量、卵裂球数目、均一性及胚胎碎片率与可利用囊胚形成显著相关(P＜0.05)。 结论 D3胚胎质量、卵裂球数目、均一性及胚胎碎片均会影响到囊胚的形成及质量,其中胚胎质量和卵裂球数目对可利用囊胚形成的影响较大。

Objective To explore the developmental potential of day 3(D3) different quality embryos cultured to blastocyst in vitro fertilization treatment, and to provide laboratory basis for blastocyst culture. Methods A total of 5 510 embryos with blastocyst culture remained after D3 transplantation or freezing from April 2015 to April 2019 were analyzed retrospectively. They were divided into groups according to embryo quality, blastomere number, blastomere homogeneity and fragment rate in D3. And the blastocyst formation rate, high quality blastocyst formation rate and available blastocyst formation rate were compared between the groups.The correlation within each factor and available blastocyst formation was analyzed. Results The blastocyst formation rate, high quality blastocyst formation rate and available blastocyst formation rate of D3 high quality embryo group were higher than those of non-high quality embryo group (P<0.05); compared with 7- 9 cell group, 4- 6 cell group and<4 cell group were lower (P<0.05), but there was no significant difference in CP group or >9 cell group. Compared with the normal size of the blastomere (-), the difference in the size of the blastomere (+) group and the (++/+++) group decreased (P<0.05); compared with the fragment ≤ 10%, the difference in the size of the blastomere between the 10%~25% group and the fragment>25% group decreased (P<0.05). The results of logistic analysis suggested that the embryo quality, blastomere number, homogeneity and fragment rate of D3 were correlated with available blastocyst formation (P<0.05). Conclusion D3 embryo quality, blastomere number, homogeneity and embryo fragment may affect the formation and quality of blastocyst, especially the embryo quality and blastomere number.

目的 探讨家庭医生契约式服务对婴儿生长发育及肺炎发生率的影响。方法 选取2019年7月—2020年2月龙凤社区出生的婴儿200例作为研究对象,随机分为签约组与未签约组,每组100例。其中,签约组婴儿接受家庭医生契约式服务,未签约组婴儿则接受社区常规儿童保健服务。记录两组婴儿出生后第1、3、6、9、12个月时的生长发育指标(身长、体质量)、神经心理发育指标(大动作、精细动作、个人-社会、语言、适应性)以及肺炎发生率,进行对比分析。结果 出生后第1个月和第3个月,两组婴幼儿身高与体质量差异无统计学意义(P＞0.05)。自出生后第6个月开始,签约组婴幼儿的身高与体质量水平均高于未签约组婴幼儿(P＜0.05)。两组中出生后1月龄的婴幼儿在发育商5项指标中差异均无统计学意义(P＞0.05)。在12月龄时,签约组婴幼儿的大动作、精细动作、个人-社会、语言、适应性5项指标评分均高于未签约组婴幼儿(P＜0.05)。截止出生后第12个月,签约组共发生2例肺炎患儿,肺炎发生率2%;未签约组发生10例肺炎患儿,肺炎发生率10%,高于签约组肺炎发生率。所有肺炎患儿均给予积极对症治疗后痊愈。结论 家庭医生契约式服务能够促进婴幼儿出生后第1年内身心发育水平,同时还能有效降低肺炎的发生风险,有利于婴幼儿身心全面、健康地发育和生长,具有比较显著的卫生和社会学价值,值得推广应用。

Objective To explore the effect of family doctor contract service on infant growth and development and incidence of pneumonia. Methods From July 2019 to February 2020, 200 infants in Longfeng community were selected as the research objects and randomly divided into contract group and non contract group, with 100 cases in each group. Among them, the infants in the contract group received the family doctor contract service, while the infants in the non signing group received the community routine child health care services. The growth and development indexes (body length, body weight), neuropsychological development indexes (big movements, fine movements, personal society, language, adaptability) and the incidence of pneumonia were recorded and analyzed in the first, third, sixth, ninth and twelfth months after birth. Results There were no significant differences in height and weight between the two groups at the first and third month after birth (P>0.05). From the 6th month after birth, the height and weight of infants in the signing group were higher than those in the non signing group (P<0.05). There were no significant differences in the 5 indexes of development quotient between the two groups (P>0.05). At the age of 12 months, the scores of big movement, fine movement, personal society, language and adaptability of infants in contract group were higher than those in non contract group (P<0.05). By the end of the 12th month after birth, there were 2 cases of pneumonia in the signing group, the incidence of pneumonia was 2%; in the non signing group, there were 10 cases of pneumonia, the incidence of pneumonia was 10%, which was higher than that of the signing group. All children with pneumonia were cured after active symptomatic treatment. Conclusion Family doctor contract service can promote the physical and mental development level of infants and young children in the first year after birth, at the same time, it can effectively reduce the risk of pneumonia, which is conducive to the comprehensive and healthy development and growth of infants and young children. It has significant health and sociological value and is worthy of promotion and application.

目的 分析某院中期早产儿体格发育及肠外营养状况,为中期早产儿制定合理的肠外营养方案提供参考。方法 收集某院2017年10月—2018年12月50例(32～33⁺⁶)周早产儿的病例进行回顾分析。结果 50例患儿出生平均体质量、身长、头围各为(1.84±0.24) kg、(42.92±2.16) cm、(29.77±1.20) cm,生后 1周和生后2周的平均体质量、身长、头围分别为(1.83±0.24) kg、(43.28±1.95) cm、(29.97±1.32) cm和(2.07±0.23) kg、(43.91±1.79) cm、(30.62±1.13) cm。营养素的起始剂量各为:氨基酸(1.11±0.37)g·kg^-1·d ^-1,脂肪乳(0.78±0.22)g·kg^-1·d ^-1,葡萄糖(5.86±1.51)mg·kg^-1·min^-1,肠外营养平均天数(22.8±6.46)天,体质量平均下降幅度(7.22±3.82)%,恢复至出生体质量平均天数(8.3±2.72)天。结论 该院中期早产儿肠外营养设计需完善,以控制生理性体质量下降程度及持续时间,更适于体格发育。

Objective To analyze the physical development and parenteral nutrition status of preterm infant in a hospital in order to provide reference for the formulation of reasonable parenteral nutrition treatment plan for medium preterm infants. Methods The clinical data of 50 preterm infants aged 32～33⁺⁶ weeks from October 2017 to December 2018 were collected and analyzed retrospectively. Results The average birth weight, body length and head circumference of the child patients were (1.84±0.24) kg, (42.92 ±2.16) cm, (29.77±1.20) cm respectively. After one week and After two weeks,the average birth weight, body length and head circumference were(1.83±0.24) kg, (43.28±1.95) cm, (29.97±1.32) cm respectively and (2.07±0.23) kg, (43.91±1.79) cm, (30.62±1.13) cm respectively. The initial dose of amino acid(1.11±0.37)g·kg^-1·d^-1, fat emulsion(0.78±0.22)g·kg^-1·d^-1, glucose(5.86±1.51)mg·kg^-1·min^-1. The average days of parenteral nutrition treatment were(22.8±6.46)d, the average weight loss was(7.22±3.82)% and the average days of recovery to birth weight were (8.3±2.72)d. Conclusion The design of parenteral nutrition for preterm infants still needs to be improved in order to control the degree and duration of physiological weight loss of preterm infants in the mid-term, which is conducive to the physical development of preterm infants in the mid-term.

目的 探讨产前超声联合磁共振诊断胎儿部分性胼胝体发育不全的价值。方法 收集产前超声联合磁共振诊断为部分性胼胝体发育不全的胎儿15例,对比出生或引产后的检查结果,分析产前超声特征。结果 产前超声直接征象:胼胝体正中矢状切面相应部位缺失12例(12/15,80.0%)。间接征象:透明隔腔形态异常(80.0%)、侧脑室扩张(73.3%)、大脑纵裂池分离(73.3%)、脑中线丘脑后方囊性包块(26.7%)、侧脑室“泪滴状改变”(26.7%)、胼周动脉走行异常(26.7%),合并颅内或其他系统畸形6例。对比出生或引产后随访结果,诊断准确率:产前超声80.0%,产前磁共振93.3%。结论 超声可以诊断胎儿部分性胼胝体发育不全,更精确的诊断建议结合产前胎儿头颅磁共振检查。

Objective To explore the value of prenatal ultrasound in diagnosis of fetal partial agenesis of corpus callosum. Methods 15 fetuses diagnosed as partial agenesis of corpus callosum by prenatal ultrasound combined with magnetic resonance imaging (MRI) were collected. Results of examination after birth or induction of labor were compared to analyze the characteristics of prenatal ultrasound. Results Direct signs were observed in the prenatal sonographic features: 12 cases (12/15, 80.0%) were missing corresponding parts in the midsagittal section of corpus callosum. Indirect signs: transparent partition morphological abnormalities (80.0%), lateral ventricle expansion (73.3%), separation of longitudinal crack on the brain pool(73.3%), posterior thalamic midline cystic mass (26.7%), “teardrop change” of the lateral ventricle (26.7%), abnormal course of pericallosal artery (26.7%), with intracranial and other system deformity in 6 cases, including multiple anomalies. Compared with the follow-up results after birth or induction of labor, the diagnostic accuracy was 80.0% of prenatal ultrasound and 93.3% of prenatal MRI. Conclusion Ultrasonography may diagnose fetal partial agenesis of corpus callosum properly, and more accurate diagnosis could be finished combining with prenatal fetal cranial MRI.

目的 探讨Graf法超声在6个月以内婴儿发育性髋关节异常筛查及随访中的应用价值。方法 选取我院2014年1月—2017年6月2 000例0～6个月婴儿(4 000个髋关节)为标本,采用Graf法超声检查进行筛查,检测发病率,并对部分髋关节异常的婴儿进行随访。结果 Ⅰ型髋关节3 572例(89.3%),Ⅱ型336例(8.4%),Ⅲ型92例(2.3%)。随访的272例发育性髋关节异常婴儿中,86例Ⅱ型转化为Ⅰ型,42例Ⅲ型转化为Ⅰ型,46例Ⅱa型转化为Ⅱb型,98例Ⅱ型无转化。结论 Graf法超声检查在婴儿髋关节异常筛查以及随访中有较高的使用价值。Graf法超声检查安全性好、有效率高,有助于发育性髋关节异常疾病的早期诊断及早期治疗。