Objective To investigate the efficacy and safety of cervical dilatation balloon and Dinoprostone for promoting cervical ripening and induction of labor.Methods 80 maternal who were taken induction of labor were randomly divided into two groups,40 patients in each group,according to the order of admission,the study group and the control group used COOK balloon and Dinoprostone for promoting cervical ripening and induction of labor respec-tively,Bishop score before and after treatment,cervical ripening rate of maternal and neonatal outcomes were compared between the two groups of maternal.Results The study group′s Bishop score was (8.96 ±0.15)points,which was significantly higher than (6.02 ±0.34)points of the control group after treatment,the difference was statistically sig-nificant(t =3.75,P <0.05);The total effective rate of the study group for maternal cervical ripening and induction of labor was 97.5%,which was significantly higher than 67.5% of the control group,the difference was statistically sig-nificant(χ2 =5.31,P <0.05);The study group′s induction to the regularity of contractions time was (6.2 ±1.4)h, which was significantly lower than (11.5 ±2.1)h of the control group(t =13.28,P <0.05),and the study group′s vaginal delivery rate and cesarean section rate were 85.0% and 15.0% respectively,the difference was statistically significant,which compared with 62.5% and 37.5% of the control group (χ2 =3.88,6.49,all P <0.05);The two groups′maternal and neonatal outcomes showed no significant difference(t =0.17,0.43,0.31,0.82,all P >0.05).Conclusion The cervical dilatation balloon has a higher success rate for promoting cervical ripening and induction of labor which is safe and reliable that should be widely applied.

Objective To discover the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria(DSH). Methods We investigated this family and collected blood samples of the individuals in this family. Mutation screening was carried out by PCR and direct sequencing. The allele specific primer was designed for the mutation point, and allele-specific PCR was carried out on the patients, normal family members and 40 normal individuals. Results A single nucleotide deletion (c.1642 delC) was identified in exon3 of ADAR gene in the patients of this family. This mutation was not detected in the normal family members and in any of the control individuals. Conclusion This single nucleotide deletion was responsible for the disease in the family.

Objective To develop a rapid,reliable and convenient approach for diagnosing the homozygous deletion of SMN1 gene.Methods SMN1 gene was amplified specifically with double allele-specific PCR(AS-PCR).Meanwhile,one inrelevant gene was amplified as internal control by PAGE and agarose gel electrophoresis analysis to determine whether the sick children were with homozygous deletion of SMN1 genes.Results The homozygous deletion of exon7 in SMN1 gene was identified by agarose gel electrophoresis or PAGE accurately.Conclusion Compared to PCR-RFLP and DHPLC used in the past,this approach can diagnose homozygous deletion of SMA much more accurate,easier and more convenient without completed following analyses.

Objective Utilizing transcriptomic sequencing,this study aimed to monitor the expression alterations of GIMAP8 and SEC14L5 throughout the progression of pulmonary fibrosis,thereby providing insights into the underlying mechanisms of its pathogenesis and evolution.Methods C57BL/6 male mice were assigned in a randomized manner to either the Silica or PBS group.The Silica group underwent non-exposed endotracheal intubation on days 0 and 14 with 50 μL 100 mg/mL silica suspension,while the control group received 50 μL phosphate-buffered saline solution.On day 28,lung function was detected and the mice were sacrificed,and lung morphology,fibrosis,and mRNA levels were observed.Results When contrasted with individuals in good health,a differential expression analysis of mRNA in patients with pneumoconiosis identified a total of 584 mRNAs with significant expression differences.Among these,the expression of 242 mRNA was observed to be markedly elevated,while that of 342 mRNA was found to be considerably diminished.The enrichment analysis indicated that the primarily affected mRNAs with altered expression were associated with pathways such as p53,nuclear factor-κB,tumor necrosis factor,AMP-activated protein kinase,and other signaling pathways.In the Silica mice,the alveolar structures were compromised,characterized by the presence of collagen fiber accumulation and the formation of fibrous masses.In contrast,the PBS mice maintained a normal pulmonary architecture.GIMAP8 expression was up-regulated whereas SEC14L5 expression was down-regulated in lung tissues in the Silica mice,and mice in the Silica group had poorer lung function.Conclusions The onset and progression of pulmonary fibrosis may be significantly influenced by GIMAP8 and SEC14L5 expression in patients with pneumoconiosis and in silicosis animal models.This association could serve as a foundational molecular insight,paving the way for the development of preventative and therapeutic strategies against these conditions.

Objective:To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH).Methods:In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children′s Hospital from January 2010 to January 2020. The clinical characteristics, PHEX gene variants, as well as clinical outcome of the patients were summarized. To analyze the correlation between genotype and phenotype, the patients were divided into different subgroups according to the location of the variants, including N-terminal-located vs. C-terminal-located variant, and Zn-binding domain exon 17 or 19 variant vs. non-exon 17 or 19 variant. The age at onset, height standard deviation score (HtSDS), intercondylar or intermalleolar distance, fasting serum phosphorus, and HtSDS and intercondylar or intermalleolar distance at the final follow-up were compared by rank sum test or t text. Results:Among the 25 children with XLH, 8 were boys and 17 were girls. The median age of onset was 1.2 (1.0, 1.8) years, and the median age of diagnosis was 2.5 (1.5, 4.3) years. The main clinical manifestations were abnormal gait and lower limb deformity. The HtSDS was -2.0(-3.2, -0.8), and the intercondylar or intermalleolar distance was 4.5 (3.0, 6.0) cm. The fasting serum phosphorus level was 0.8 (0.7, 0.9) mmol/L, while the serum alkaline phosphatase level was (721±41) U/L and the serum calcium level was (2.5±0.1) mmol/L. Three patients (12%) had parathyroid hormone levels above the upper limit of the normal range. Twenty-five patients (100%) showed radiographic changes of active rickets. Nephrocalcinosis was found in 2 cases (9%). Twenty-four different PHEX variations were detected in 25 patients, among whom 11 (44%) had not been reported previously. No hot spot variation was found. No statistical differences (all P>0.05) were identified in clinical features and outcomes either in comparing patients with N-terminal (21 cases) and C-terminal (4 cases) variants, or in comparing patients with variant located in exon 17 or 19 (4 cases) or not (21 cases). Twenty-four cases (96%) were treated regularly with phosphate supplements and active vitamin D. After 2.7 (1.6, 5.0) years of follow-up, clinical symptoms were relieved in 96% (24/25) of the patients. The HtSDS after treatment had no significant difference compared to that before treatment (-2.0(-3.2, -0.8) vs.-2.0(-2.8, -1.1), Z =-0.156, P>0.05), while the intercondylar or intermalleolar distance after treatment was significantly reduced compared to that before treatment (4.5(3.0, 6.0) vs. 1.5(0, 3.3) cm, Z =-3.043, P<0.05). Bone X-rays were reexamined in 17 cases after treatment, and radiographic signs of rickets were improved. Eighteen cases had secondary hyperparathyroidism and 7 cases had nephrocalcinosis. Conclusions:The main clinical manifestations of XLH are abnormal gait, lower limb deformity and short stature. A high proportion of novel variations of PHEX gene but no hot spot variation neither genotype-phenotype correlation are found. Regular treatment with phosphate supplements and active vitamin D can significantly improve the symptoms except for the height. However, the rate of adverse events including secondary hyperparathyroidism and nephrocalcinosis seems to be high.