目的 本研究旨在为遗传性骨性Ⅲ类错颌的风险基因突变及复杂遗传背景提供更多依据,进而可以为再生风险的产前诊断提供参考.方法 对1个家族性骨性Ⅲ类错颌家系中患者进行全外显子组测序,设置合理条件对变异的注释进行筛选,并筛选下颌前突或骨性Ⅲ类错颌相关基因突变.对疾病相关基因突变进行进一步的生物信息学分析.Sanger测序验证患者的疾病相关基因突变并检测核心家庭成员的基因.结果 在患者Ⅲ3、Ⅳ2的所有变异中,采用3个条件(突变有害性为高级,且突变质量值为高度或中度,且在HGMD数据库中突变涉及下颌前突)筛选后,仅发现ADAMTSL1基因的c.G1696A错义突变.这个基因突变位点是本研究首次报道的.该新位点(p.E566K)位于ADAMTSL1蛋白的关键结构功能域.多数软件预测该基因新位点突变为有害.该基因突变为常染色体显性遗传,但外显率不完全.结论 本研究建立了从全外显子组测序结果中筛选下颌前突或骨性Ⅲ类错颌相关基因的合理、可行方法,具有实际推广应用价值.本研究报道了与骨性Ⅲ类错颌相关的ADAMTSL1基因的新位点错义突变.本研究结果可以为遗传性骨性Ⅲ类错颌的风险基因突变提供更多依据,进而可以为家系中再生风险的产前诊断提供参考.
Objective To explore the differences and correlations of platelet, leukocyte and erythrocyte levels between acute respiratory mycoplasma infection and parainfluenza virus infection in children. Methods The clinical data of 287children with infectious diseases admitted to our hospital from February 2018 to February 2019 were retrospectively analyzed,and they were divided into mycoplasma infection group（136 cases） and parainfluenza virus infection group（151 cases） according to their different infection types, and another 100 children who came to our hospital for physical examination during the same period were selected as the healthy control group. The differences in platelet（PLT）, white blood cell（WBC）, and red blood cell（RBC） levels of children in different groups were compared. Pearson correlation was used to analyze the relationship between the levels of PLT, WBC, and RBC with mycoplasma infection and parainfluenza virus infection. The receiver operating characteristic curve was used to analyze the diagnostic value of PLT, WBC, and RBC levels in differentiating mycoplasma infection and parainfluenza virus infection. Results The levels of PLT and WBC in mycoplasma infection group were significantly higher than those in parainfluenza virus infection group and healthy control group, while the levels of RBC were lower than those in parainfluenza virus infection group and healthy control group. PLT in parainfluenza virus infection group was higher than that in healthy control group, and RBC level was lower than that in healthy control group, both P＜0.05.Mycoplasma infection was positively correlated with PLT and WBC, and negatively correlated with RBC, P＜0.05. Parainfluenza virus infection was positively correlated with PLT and negatively correlated with RBC, P＜0.05. The sensitivity of PLT,WBC, RBC and combined factors to diagnose mycoplasma infection and parainfluenza virus infection was 69.1%, 69.1%,89.7% and 95.6% respectively, P＜0.05. Conclusion There were significant differences in PLT, WBC and RBC levels between mycoplasma infection and parainfluenza virus infection in children. Combining PLT, WBC and RBC indicators was helpful to distinguish mycoplasma infection from parainfluenza virus infection.
Objective To perform preimplantation genetic testing（PGT） for X-linked chronic granulomatosis using multiple displacement amplification（MDA） combined with haplotype analysis and pathogenic gene detection. Methods Sixteen short tandem repeat markers flanking both sides of CYBB gene were applied to construct haplotype analysis. Whole genome amplification was based on multiple displacement amplification and its product was further submitted to polymerase chain reaction and capillary electrophoresis to detect polymorphic STR sites and CYBB gene. The sex was diagnosed by the Amel locus. Results Two cycles of PGT were performed for a family. The pedigree analysis found seven polymorphic STR loci informative. A total of 16 embryos were diagnosed, of which 8 were genetically normal, 1 was carrier and 7 were abnormal. The diagnostic efficiency was 100%. The MDA success rate was 99.3%（143/144） and the allele drop-out rate was 14.0%（6/43）. A total of six transplantable blastocysts and three embryo transfer cycles were carried out for the patient, resulting in a single pregnancy and healthy baby boy at full term. Conclusion Multiple displacement amplification combined with specific amplification of pathogenic gene and haplotype analysis are effective and efficient in preimplantation genetic testing for X-linked chronic granulomatosis.
Objective To explore the relationship between the serum levels of Kirsten rat arcomaviral oncogene homolog（KRAS） and silent information regulator 1（SIRT1） in patients with endometriosis and the progress of the disease and the diagnostic value of endometriosis. Methods From June 2020 to June 2022, 90 patients with endometriosis who were treated in Yan’an People’s Hospital were selected as the observation group. According to the severity of dysmenorrhea, they were grouped into 32 mild cases, 38 moderate cases, and 20 severe cases. According to the staging standard of endometriosis,they were grouped into 36 cases of stage Ⅰ–Ⅱ, 30 cases of stage Ⅲ, and 24 cases of stage Ⅳ. Another 88 healthy women of childbearing age were regarded as the control group. Serum KRAS, SIRT1, carbohydrate antigen 125（CA125） and anti-endometrial antibody（EMAb） were compared in each group. Pearson correlation was used to analyze the relationship between KRAS and SIRT1, as well as their relationship with CA125 and EMAb. ROC curve was used to evaluate the diagnostic value of serum KRAS and SIRT1 for endometriosis. Multivariate Logistic regression was used to analyze the influencing factors of endometriosis. Results The serum levels of KRAS, SIRT1, CA125 and EMAb in the observation group were higher than those in the control group（P＜0.05）. The serum levels of KRAS, SIRT1, CA125 and EMAb were increased successively in patients with mild, moderate and severe dysmenorrhea（P＜0.05）. The serum levels of KRAS, SIRT1, CA125 and EMAb in patients with r-AFS stage Ⅰ–Ⅱ, Ⅲand Ⅳ were increased gradually（P＜0.05）. Serum KRAS and SIRT1 levels in observation group were positively correlated（P＜0.05）, and both were positively correlated with CA125 and EMAb levels（P＜0.05）.Multivariate Logistic regression analysis showed that high levels of KRAS, SIRT1, CA125, and EMAb were risk factors for endometriosis（P＜0.05）. The area under the curve of combined serum KRAS and SIRT1 in diagnosing endometriosis was significantly higher than that of single index（P＜0.05）. Conclusion The serum levels of KRAS and SIRT1 in patients with endometriosis are up-regulated, and the two are closely related to the disease progression of the patients. The combination of the two has a high diagnostic value for endometriosis.
目的 对一个生育过脊髓性肌萎缩症患儿的家系进行产前诊断,同时对三种实验室检测技术进行方法学的比较.方法 应用荧光定量PCR、荧光PCR-毛细管电泳法及MLPA对家系外周血样本及绒毛组织、羊水组织进行了检测.同时进行了亲缘鉴定以排除母源污染.结果 第一胎患儿为SMN1基因7、8号外显子纯合缺失合并SMN2基因的3拷贝重复,患儿父亲为SMN1基因第7、8号外显子的杂合缺失携带者合并SMN2基因的3拷贝重复,患儿母亲为SMN1基因第7、8号外显子的杂合缺失携带者,SMN2基因2拷贝.本次妊娠胎儿为SMN1基因第7、8号外显子杂合缺失及SMN2基因3拷贝重复.结论 经检测胎儿仅为SMN1基因杂合缺失的携带者,可继续正常妊娠.同时,荧光PCR-毛细管电泳法和MLPA可同时对SMN1和SMN2基因拷贝数进行检测,检测较为全面,但荧光定量PCR检测操作方便,检测周期短,适合大样本人群的普筛.
目的 探究神经干细胞RNA结合蛋白Musashi1在卵巢上皮性肿瘤(EOC)中的表达及通过调控Wnt/β-连环蛋白(β-catenin)对癌细胞化疗敏感性的影响.方法 收集2012年10月至2014年4月经手术切除的50例EOC及癌旁组织样本,qRT-PCR、WB检测EOC、癌旁组织及EOC细胞系Musashi1表达水平.通过四甲基偶氮唑盐(MTT)检测、克隆形成、划痕、Transwell实验、蛋白免疫印迹(WB)检测、悬滴培养实验、体内异种移植实验及免疫荧光检测探究Musashi1表达对OVCAR420、SKOV3细胞、Wnt/β-catenin信号通路的影响.结果 Musashi1在EOC组织与细胞系中呈高表达,其高表达与FIGO Ⅲ～Ⅳ期、TNM Ⅱ～Ⅲ期、淋巴结转移阳性、腹水肿瘤细胞阳性相关(P＜0.05).抑制Musashi1表达可降低OVCAR420细胞恶性生物学行为、肿瘤细胞干性特征、化疗敏感性、N-cadherin、Vimentin、β-catenin、Snail、CyclinD1表达水平、皮下肿瘤质量(P＜0.05),提高E-cadherin表达水平(P＜0.05);过表达Musashi1可增强SKOV3细胞恶性生物学行为、肿瘤细胞干性特征、化疗敏感性、N-cadherin、Vimentin、β-catenin、Snail、Cyclin D1表达水平、皮下肿瘤质量(P＜0.05),降低E-cadherin表达水平(P＜0.05).结论 Musashi1在EOC中高表达,其高表达与不良临床病理特征相关,可能通过调控Wnt/β-catenin信号通路增强肿瘤细胞恶性生物学行为、提升肿瘤细胞干性特征、化疗敏感性等方面促进EOC的发展.
Objective To explore the mechanism of isoflurane on pain level of pregnant rats and neural cell activity of young rats based on NR2B protein expression. Methods Selected 40 SPF SD female rats at 15 days, were randomly divided into normal group（N）, low isoflurane group（LI）, high isoflurane group（HI）, sevoflurane（S） group, each group of 10, only to LI, HI groups respectively to different volume fraction isoflurane and empty oxygen mixed gas suction, the group S giving oxygen mixed gas inhalation sevoflurane and empty. The pain threshold of rats was detected by pain meter, the cognitive function was detected by water maze method, the number of synaptic spines of nerve cells was detected by Golgi staining method, the apoptosis of nerve cells was detected by TUNEL method, and the expression of NR2B protein was detected by immunohistochemistry. In addition, cultured nerve cells were taken for in vitro experiment and divided into two groups. One group was added with 1 mL emulsified isoflurane（0.3 mmol/L）（observation group）. In the other group, 1 mL of 0.3 mmol/L NR2B agonist was added（control group）. Results Compared with group N, the pain threshold of body surface at 0, 6, 12, 18and 24 h in LI, HI and S groups were significantly increased（P＜0.05）, and the escape latency, neuronal cell apoptosis and NR2B protein profile of young rats were significantly increased（P＜0.05）. The times of crossing the platform, the residence time of the platform quadrant, and the number of synaptic spines of nerve cells were significantly decreased（P＜0.05）, and the changes were significantly higher in HI group than in LI group（P＜0.05）, but there was no significant difference between S group and HI group（P＞0.05）. There was no significant difference in NR2B protein expression between the observation group and the control group（P＞0.05）. Conclusion Isoflurane can effectively relieve the pain on the body surface of pregnant rats,but it has a certain effect on the activity of nerve cells in young rats, which may be related to the activation of NR2B.
Objective To investigate the influence of eriocalyxin B（EriB） on cervical cancer cell proliferation and metastasis, and whether this process depends on signal transducer and activator of transcription 3（STAT3） signaling pathway.Methods Cervical cancer cell SiHa was treated with various concentrations of EriB（5, 10, 20 μmol/L） for 48 h. Then, CCK8assay was used to evaluate cell proliferation, flow cytometer was used to detect cell cycle distribution. Transwell assay was used to detect cell migration and invasion capacity. Western blot was used to detect protein expression of CDK2, Cyclin E,E-caderin, MMP9, p-JAK2, JAK2, p-STAT3 and STAT3. Next, SiHa cell was treated with Colivelin（1 μg/mL）, a STAT3 agonist, alone or with the combination of EriB（20 μmol/L） for 48 h. Cell proliferation, cell migration and invasion were evaluated.Results EriB inhibited SiHa cell proliferation, migration, and invasion in a dose-dependent manner with significant cell cycle arrest. The expression of CDK2, Cyclin E, p-JAK2 and p-STAT3 was decreased, whereas the expression of E-caderin and MMP9 was increased（P＜0.05）. Notably, Colivelin could abrogated the influence of EriB on SiHa cell proliferation, migration,and invasion. Conclusion EriB may inhibit cervical cancer cell proliferation and metastasis by regulating STAT3 signaling pathway.
目的 分析武汉地区季节和温度对新生儿促甲状腺激素(TSH)水平、筛查阳性率和阳性预测值(PPV)的影响.方法 收集56924例新生儿滤纸干血斑TSH的筛查数据和确诊数据,以及研究时间段内每日平均温度,并按气温法划分季节.分析季节和温度与TSH水平的关系,温度与筛查阳性率及PPV的关系.结果 TSH水平在冬季达到顶峰,在夏季达到低谷,并且冬季的TSH水平分布较夏季分散.春、夏、秋、冬季TSH水平中位数分别为3.79、2.82、3.39、4.06 mU/L,春、夏、秋、冬四组间的TSH水平均有显著性的差异(P＜0.01).TSH水平中位数与日平均温度呈负相关(r=-0.773,P＜0.01).月平均温度与筛查阳性率呈负相关(r=-0.881,P＜0.01),与PPV呈正相关(r=0.728,P＜0.01).结论 TSH水平变化受到季节和温度显著的影响,根据季节温度的变化设立精准的TSH切值可以有效减少假阳性率,减轻了家长的精神负担.
目的 探讨上皮膜蛋白1(EMP1)在浆液性卵巢癌(SOC)中的表达及其临床意义.方法 采用免疫组化法检测EMP1蛋白在306例SOC组织和85例正常卵巢组织中的表达情况,利用x2检验比较不同EMP1蛋白表达水平的SOC患者临床病理特征的差异,应用Kaplan-Meier法分析EMP1蛋白表达水平与患者预后的关系.结果 SOC组织EMP1蛋白高表达率为42.8％显著高于正常卵巢组织的12.9％(x2=25.661,P＜0.001).EMP1蛋白高表达与淋巴结转移(x2=14.251,P＜0.001)和高FIGO分期(x2=6.954,P=0.008)呈正相关.EMP1蛋白高表达的SOC患者总生存率(x2=14.574,P＜0.001)和无进展生存率(x2=4.683,P=0.031)均较低表达者降低.结论 EMP1蛋白在SOC组织中呈高表达,其表达水平上调与淋巴结转移和高FIGO分期相关,且可预测SOC患者预后不良.提示EMP1可能成为一个SOC早期诊断、预后相关的生物标志物以及靶向药物治疗的新靶点.
Objective To explore the effect of serum adipose factor levels in the late pregnancy of patients with gestational diabetes on neonatal hypoglycemia and related complications. Methods Retrospective analysis of the clinical data of 144 pregnant women admitted to Zigong Hospital Of Woman and Children Healthcare from March 2019 to March 2022. The patients were randomly divided into training set（96 cases） and verification set（48 cases） at a ratio of 2∶1. Patients in the training set were divided into neonatal hypoglycemia group（67 cases） and non neonatal hypoglycemia group（29 cases） according to neonatal blood glucose. Comparison of clinical data between the two groups. Analysis the relationship between the serum adipose factor levels and neonatal hypoglycemia by smooth curve fitting. Analysis the predictive value of serum adipose factor level on neonatal hypoglycemia by receiver operating characteristic curve（ROC）. Study on the influencing factors of neonatal hypoglycemia by multifactor Logistic regression analysis. Building the artificial neural network model and evaluate the prediction efficiency. To compare the influence of different levels of serum adipose factor on the incidence of related complications in neonates and pregnant women. Results The incidence of neonatal hypoglycemia in training set patients was 68.38%. There is a linear positive correlation between the level of serum adipose factor and the occurrence of neonatal hypoglycemia. Serum adipose factor levels have a certain predictive value for neonatal hypoglycemia（AUC=0.733）. Multivariate analysis showed that premature delivery, intrauterine infection, low birth weight, neonatal asphyxia, neonatal diarrhea, and serum adipose factor levels were independent risk factors for neonatal hypoglycemia（P＜0.05）. The prediction model has a good prediction performance. The incidence of complications in patients with abnormal serum adipose factor levels were significantly higher than the normal serum adipose factor levels group（P＜0.05）.Conclusion Serum adipose factor levels in the late pregnancy of patients with gestational diabetes have a significant impact on neonatal hypoglycemia and related complications. Serum adipose factor levels have a predictive value for neonatal hypoglycemia.
Objective To investigate the impact of propofol on neuronal damage in neonatal rats with ischemic hypoxic brain injury（HIBD） by regulating sirtuin 1（SIRT1）/high mobility group protein 1（HMGB1）/nuclear transcription factor-κB（NF-κB） signaling pathway in ischemic hypoxic brain injury（HIBD）. Methods SD neonatal rats were taken to construct hypoxic-ischemic brain injury（HIBD） model by Rice-Vannucci method, and they were randomly grouped into model group, low-dose propofol group（5 mg/kg）, and high-dose propofol group（10 mg/kg）, EX527 group（5 mg/kg）, and high-dose propofol（10 mg/kg）+EX527（5 mg/kg） group, 15 in each group, another 15 newborn rats were regarded as the sham operation group. After group and intervention with propofol and EX527, the cognitive function of rats was detected by platform jump test. Brain water content of rats was measured. Nissl staining was applied to detect the number of neurons in the hippocampus of rats in each group. Transmission electron microscopy was applied to observe the ultrastructure of rat hippocampal neurons.The kit was applied to detect the levels of inflammatory mediators tumor necrosis factor-α（TNF-α）, inducible nitric oxide synthase（iNOS）, and oxidative stress factors total antioxidant capacity（TAC） and malondialdehyde（MDA） in serum and brain tissue of rats in each group. Western blotting was applied to detect the relative expression of SIRT1/HMGB1/NF-κB pathway in brain tissue of rats in each group. Results Compared with the sham-operation group, the ultrastructure of hippocampal neurons in the model group was severely damaged, the platform latency, the number of hippocampal neurons, the levels of TAC in serum and brain tissue, and the expression of SIRT1 protein in brain tissue were obviously decreased（P＜0.05）. The brain water content, the number of platform mistakes, the levels of TNF-α, iNOS, and MDA in serum and brain tissue, the expression of HMGB1 protein in brain tissue, and p-NF-κB p65/NF-κB p65 were obviously increased（P＜0.05）. Compared with the model group, the ultrastructural damage of hippocampal neurons in the low-dose propofol group and the high-dose propofol group were alleviated, the platform latency, the number of hippocampal neurons, the levels of TAC in serum and brain tissue, and the expression of SIRT1 protein in brain tissue were obviously increased（P＜0.05）. The brain water content,the number of platform mistakes, the levels of TNF-α, iNOS, and MDA in serum and brain tissue, the expression of HMGB1protein in brain tissue, and p-NF-κB p65/NF-κB p65 were obviously decreased（P＜0.05）. The ultrastructural injury of hippocampal neurons in the high-dose propofol group were further alleviated compared with those in the low-dose propofol group,the platform latency, the number of hippocampal neurons, the levels of TAC in serum and brain tissue, and the expression of SIRT1 protein in brain tissue were obviously further increased（P＜0.05）. The brain water content, the number of platform mistakes, the levels of TNF-α, iNOS, and MDA in serum and brain tissue, the expression of HMGB1 protein in brain tissue,and p-NF-κB p65/NF-κB p65 were obviously further decreased（P＜0.05）. The ultrastructural injury of hippocampal neurons in the EX527 group were aggravated, the platform latency, the number of hippocampal neurons, the levels of TAC in serum and brain tissue, and the expression of SIRT1 protein in brain tissue were obviously decreased（P＜0.05）. The brain water content,the number of platform mistakes, the levels of TNF-α, iNOS, and MDA in serum and brain tissue, the expression of HMGB1protein in brain tissue, and p-NF-κB p65/NF-κB p65 were obviously increased（P＜0.05）. Compared with the high-dose propofol group, the ultrastructural damage of the hippocampal neurons in the high-dose propofol+EX527 group were aggravated,the platform latency, the number of hippocampal neurons, the levels of TAC in serum and brain tissue, and the expression of SIRT1 protein in brain tissue were obviously decreased（P＜0.05）. The brain water content, the number of platform mistakes,the levels of TNF-α, iNOS, and MDA in serum and brain tissue, the expression of HMGB1 protein in brain tissue, and p-NF-κB p65/NF-κB p65 were obviously increased（P＜0.05）. Conclusion Propofol can inhibit the activation of HMGB1/NF-κB signaling by up-regulating SIRT1, thereby inhibiting inflammation and oxidative stress, and reducing neuronal damage in neonatal rats with HIBD.
Objective To analyze the risk factors of pulmonary infection in children with congenital heart disease（CHD）, and to construct a risk nomogram prediction model. Methods A total of 246 children with CHD admitted to Jingjiang People’s Hospital from January 2021 to December 2021 were selected as the research objects. According to whether pulmonary infection occurred, they were divided into control group（n=201） and infection group（n=45）. The clinical data of children with CHD were analyzed, and the risk factors of CHD complicated with pulmonary infection were screened by univariate and Logistic regression analysis. The nomogram model was constructed and the goodness-of-fit test was performed. Results Among 246children with CHD, 45 were complicated with pulmonary infection（18.29%）. NYHA cardiac function class＞class II, left ventricular ejection fraction≤40%, immunodeficiency/hypofunction, invasive operation, pulmonary blood congestion, ALB≤35g/L and PCT＞0.5 μg/L were independent risk factors for pulmonary infection in children with CHD（P＜0.05）. Model validation results: The C-index was 0.840, the predicted value was basically consistent with the measured value, the AUC was 0.826,and the net benefit value was higher when the threshold probability range was 8%-95%. Conclusion The constructed nomogram model can accurately assess and quantify the risk of CHD complicated with pulmonary infection, which is helpful for medical staff to quickly and effectively identify children with high-risk CHD, and take timely intervention measures to reduce the probability of pulmonary infection.
Objective To evaluate mRNA and lncRNA expression in amniocytes with Down syndrome fetuses versus a matched cohort of healthy subjects. Methods Amniotic fluid samples were obtained by transabdominal amniocentesis performed for this transcriptome study by RNA sequencing, and all differentially expressed transcripts were subjected to functional enrichment analysis. Results 1432 transcripts were differentially expressed in fetuses with Down syndrome compared to controls. Particularly, 779 transcripts were down-regulated（611 protein-coding mRNAs and 168 lncRNAs） and 653 were over-regulated（543 protein-coding mRNAs and 110 lncRNAs）. These transcripts play important roles in regulating immune system, blood vessel development, aging and cancer development in Down syndrome. Conclusion This indicates that dysregulated mRNA and lncRNA expression profiles in fetuses with Down syndrome are likely to have an important role to play in Down syndrome pathogenesis.
Objective To carry out prenatal diagnosis for a fetus with high risk of trisomy 21 serological screening and lateral ventriculomegaly. Methods G-banding karyotype analysis and CNV-seq technology were performed to detect the fetal amniotic fluid, and their parents were analyzed for peripheral blood karyotype to determine the reason for fetal Chromosome abnormality. Results The fetus was found to have a 47,XX,+mar karyotyping. CNV-seq revealed a 18.25 Mb duplication at 11q23.3-11q25 and 1.35 Mb duplication at 22q11.21-22q11.21. The father was found to be normal by chromosomal karyotyping and the mother’s chromosome karyotype was 46,XX,t（11;22）（q23;q11.2）. The fetus was ultimately found to have a karyotype of 47,XX,+der（22）t（11;22）（q23;q11.2）. Conclusion The fetus carried maternal partial trisomy 11q variation and 22q variation, Identifying the genetic cause of the fetus enabled us to provide guidance for the family’s next birth.
Objective To explore the role and underlying mechanism of miR-328-5p in the biological function of ectopic endometrial cells. Methods Real-time quantitative polymerase chain reaction（RT-qPCR） and Western blot were used to detect the mRNA and protein expressions of miR-328-5p and RAGE in ectopic endometrial tissue. The ectopic endometrial stromal cells were isolated and cultured, and divided into NC mimic group, miR-328-5p mimic group, miR-328-5p mimic+Vector group and miR-328-5p mimic+pcDNA-RAGE group. RT-qPCR was used to detect the expression of miR-328-5p and RAGE mRNA. CCK-8 assay was used to detect the cell proliferation. Transwell assay was used to detect cell invasion and migration. Western blot was used to detect the expression of RAGE protein. The bioinformatics and dual luciferase reporter gene experiments were used to predict and validate the targeting relationship between miR-328-5p and RAGE. Results Compared with normal endometrial tissue, the expression of miR-328-5p in ectopic endometrial tissue was significantly decreased, while the mRNA and protein expressions of RAGE were significantly increased（P＜0.05）. Compared with the NC mimic group, the expression of miR-328-5p was significantly increased, the mRNA and protein expressions of RAGE were significantly decreased, and the ability of cell proliferation, invasion and migration were significantly decreased in the miR-328-5p mimic group（P＜0.05）. Compared with NC mimic group, the luciferase activity of the cells cotransfected with WT-RAGE and miR-328-5p mimic was significantly decreased（P＜0.05）, but the luciferase activity of the cells cotransfected with MUT-RAGE and miR-328-5p mimic had no significant difference（P＞0.05）. Compared with the miR-328-5p mimic+Vector group, the ability of cell proliferation, invasion and migration were significantly increased in the miR-328-5p mimic+pcDNA-RAGE group（P＜0.05）. Conclusion Overexpression of miR-328-5p could inhibit the proliferation, migration and invasion of ectopic endometrial stromal cells by regulating RAGE expression.
Objective To investigate the effect of music intervention combined with health education on the mode of delivery and childbirth experience. Methods 98 primiparas in the late-pregnancy who underwent regular obstetric checkups and delivered in the hospital from December 2020 to January 2022 were included for the study, and primiparas who voluntarily participated in the music intervention combined with health education served as the trial group（n=49）, while primiparas who did not participate in the music intervention combined with health education during the same period of gestation（within 2weeks difference in gestational weeks） served as the control group（n=49）. The mode of delivery and delivery experience scores were compared between the two groups. Results The rate of spontaneous delivery was significantly higher in the trial group（79.6%） than in the control group（57.1%）（P＜0.05）. The total childbirth experience score and the scores of each dimension were significantly higher in the trial group than in the control group（P＜0.05）. Conclusion The application of music intervention combined with health education can increase the rate of spontaneous birth and improve the childbirth experience,which is worthy of clinical promotion.
目的 描述新的1例MBD5热点变异S147*导致的临床特征,探索该热点变异的基因型-表型关联.方法 结合临床常规及神经康复发育专科检查,利用家系全外显子组测序(trioWES)检测与表型相关的基因变异.利用"MDB5"及其别名"MRD1"和"Methyl-CpG Binding Domain Protein 5",分别在万方、PubMed、GeneCards 及 OMIM、ClinVar和Varsome数据库中搜索国内外的相关遗传性疾病报道.结果 男性患儿,诊断时7个月零25天.临床表现为6月龄时起病的全身强直-肌阵挛发作(GTCS)和全面发育迟缓(GDD).trioWES检出患儿新发MBD5基因无义突变NM_018328.4:c.440C＞A/p.S147*,为多个患者中发现的热点变异(dbSNP:rs886041003).本例表型与先前报道S147*案例相似,且与已报道位于同一蛋白链区域(AA123-152)C端下游T157Qfs4的案例表型高度一致.结论 本例MBD5 S147*的报道丰富了这一热点变异的关联表型.与已报道点突变案例的临床特征比较发现,MBD5蛋白质区域AA123-152可能有与MRD1表型潜在相关的未知功能,这有待深入探索.
目的 评价2011-2021年成都市新生儿疾病筛查中心新生儿遗传代谢病(IMD)筛查工作质量,总结近30年筛查工作经验,分析苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)在成都地区的流行情况,为成都市制定出生缺陷防控政策提供依据.方法 通过成都市新生儿疾病筛查数据库收集2011-2021年成都市CH和PKU的筛查率、可疑阳性召回率、不合格血片补采率、检验前血片周转不及时率等筛查质控指标,及PKU、CH的发病率、治疗、随访情况,与1992-2010年相关情况进行比较.结果 2011-2021年成都市共筛查2425987例新生儿,筛查率从2011年的92.41％逐渐上升到2021年的99.52％.初筛阳性率从0.92％逐渐上升至1.58％;初筛阳性召回率除了 2012年和2013年外均稳定在95％以上,2021年为98.44％.血片不合格率从0.27％逐渐下降至0.03％.不合格血片重采率从78.48％逐渐上升至97.78％,检验前血片周转不及时率从1.29％逐渐下降至0.03％.确诊PKU/BH4 87例,发病率:1/27885;确诊CH1169例,发病率:1/2075.与1992-2010年相比:筛查率、初筛阳性率、初筛阳性召回率,PKU筛查的阳性预计值等质控指标均有明显提升,差异有统计学意义(P＜0.05),CH筛查的阳性预计值较前下降,差异有统计学意义(P＜0.05).PKU发病率有下降,差异无统计学意义(P＞0.05);CH发病率有上升,差异有统计学意义(P＜0.05).结论 成都市筛查工作质量近10年有明显提高,筛查关键指标均稳定在较高水平.CH发病率与全国平均水平相近,PKU发病率低于全国平均水平.建议结合近十年筛查情况对TSH切值进行科学的调整,以降低CH筛查假阳性;未来可考虑适当增加免费筛查的IMD病种,进一步提高人口素质.
Objective To explore the effect of waterbirth on maternal and neonatal. Methods Randomized controlled trials on the effects of waterbirth on maternal and infant delivery outcomes from domestic and foreign literature databases such as PubMed and CNKI were searched by computer, and the retrieval time range was from establishment of the database to April 2022. Information extraction and evaluation were carried out by two team members respectively, and Meta-analysis was implemented with Review Manager 5.3 software. Results A total of 14 studies involving 5141 participants were included in the final analysis. Meta analysis showed that compared with the control group, the total stage of labor [MD=-56.78, 95%CI（-99.93,-13.62）, P=0.01], first-degree tear [RR=1.51, 95%CI（1.02, 2.24）, P=0.04], perineal integrity [RR=2.03, 95%CI（1.35,3.04）, P=0.0007], episiotomy [RR=0.34, 95%CI（0.16, 0.72）, P=0.005], neonatal 1 minute Apgar score [MD=0.02, 95%CI（0.00, 0.04）, P=0.04], the difference was statistically significant（P＜0.05）. The second-degree tear, third-degree tear, in the first, second and third stage of labor, neonatal 5 minute Apgar score, NICU occupancy rate and infection rate between the experiment group and the control group, which the differences was no significant（P＞0.05）. Conclusion Compared with the control group, waterbirth can shorten the total duration of labor, protect perineal integrity, reduce episiotomy, and improve maternal satisfaction, and does not increase the neonatal NICU occupancy rate and infection rate, but the risk of reducing neonatal 1 minute Apgar score is within the normal range. Due to the limitation of included studies, the above conclusions need to be verified by more trials.
