Objective:To investigate the safety and efficacy of ultrasound-guided transvaginal radiofrequency ablation in the treat ment of symptomatic uterine fibroid.Methods:39 patients with symptomatic uterine fibroid underwent transvaginal radiofrequency ablation therapy were selected Before treatment,the fibroid size and volume were measured using ultrasound.The fibroid-related symptom severity and quality of life were scored using uterine fibroid symptom and quality of life survey.The fibroid volume reduction rate,improvement in clinical symptom and quality of life,and ovarian function of patients were observed before treatment and at three,six,nine and 12 months after treatment.Results:The average operation time of radiofrequency ablation was 25 minutes.There was no clear intraand postoperative complication.Preoperative fibroid volume was 65.2± 49.3cm3,which was reduced to 32.2± 27.6 cm3,21.2± 18.2 cm3,15.3± 12.1 cm3 and 10.3± 9.8 cm3 at 3,6,9 and 12 months after treatment,respectively(P＜0.05).The symptom severity score (SSS) was 60.23± 13.2 before treatment,and gradually decreased to 42.2± 11.4,21.1± 10.2,15.4± 10.3 and 12.2± 9.7 at 3,6,9 and 12 months after treatment(P＜0.05).The quality of life (QOL) score gradually increased from 58.24± 16.24 before treatment to 70.3± 20.3,81.4± 8.6,86.3± 7.6 and 88.2± 9.1 at 3,6,9 and 12 months after treatment (P＜0.05).The levels of follicle stimulating hormone,luteinizing hormone and estradiol at 3,6,9 and 12 months after treatment showed no difference compared with these before treatment (P＞0.05).Conclusions:Ultrasound-guided transvaginal radiofrequency therapy was a minimally invasive,safe,and effective therapy for symptomatic uterine fibroid.

Circulating tumor cells (CTC) and circulating tumor DNA(ctDNA)are cancer cells that detach from their primary site to circularity system or other body fluids,which hold the promise of monitoring of tumor evolution and therapeutic efficacy and improving prognosis for patients.With the rapid development of detection technologies of CTCs and ctDNA,the sensitivity and specificity of current assays had significant improved.CTCs can be detected by use of cytometry,immunofluorescence analysis and genedetection and the detection methods of ctDNA mainly based on PCR and the next generation sequencing.As the developing of various methods and platforms were developed for detecting the circulating tumor cells and circulating tumor DNA,it is necessary to use the detection technology flexibly according to the research purpose and provide more assistance for the diagnosis and treatment of tumor.

Purpose/Significance By integrating clinical and biological sample information,a big data research platform for biologi-cal sample information resources is built to provide one-stop data retrieval,integration and analysis services for researchers,and a data governance system is established,so as to improve the level of hospital clinical research infrastructure construction.Method/Process Common data model and data governance technology are adopted to integrate data sources from different vendors through extraction,trans-formation,loading and other steps to provide a unified data access portal.Result/Conclusion The big data research platform for biologi-cal sample information resources has the advantages of multi-dimensional data screening and rapid integrated analysis,which can pro-vide support for clinical research.

Objective: To evaluate the sensitivity, specificity and clinical value of anti-BRAF V600E antibody (clone VE1) in detection of the BRAF V600E mutant in formalin-fixed and paraffin-embedded (FFPE) melanoma specimens by immunohistochemical (IHC) methods. Methods: A total of 50 melanoma samples collected between 2008 and 2016 from 40 patients were analyzed for BRAF mutation (exon 15) by DNA sequencing using FFPE. These tissues were immunostained with VE1 antibody, and the results were analyzed and compared with those by DNA sequencing. Results: By DNA sequencing, 36 cases showed BRAF mutation while others were BRAF wild type. Among the 36 cases with BRAF mutation, 32 harbored BRAF V600E, two harbored BRAF V600K, one had BRAF K601E and one had BRAF D594N, respectively. IHC staining showed 30 specimens were VE1 positive, while 19 were negative. The determination of IHC result for one case was obscured by heavy pigments. Of the BRAF-mutated specimens, four specimens with BRAF mutation other than V600E were all negative for VE1. The sensitivity and specificity of the VE1 immunostaining was 96.8% and 100.0% respectively.Concordance of BRAF V600E detection between immunostaining and DNA sequencing was 98.0%(48/49). Conclusions High sensitivity and specificity for VE1 immunostaining in detecting BRAF V600E in melanomas are demonstrated. It is a rapid and cost-effective method for detecting BRAF V600E mutations in melanoma patients. Hence, VE1 immunostaining can be used as an important screening method for BRAF mutation in laboratories.

OBJECTIVETo assess the association of a disintegrin and metallo-proteinase with thrombospondin type 1 motifs (ADAMTS-1) gene polymorphism and ischemic stroke caused by large artery atherosclerosis (LAA).

METHODSIn total 767 patients and 506 controls were recruited. Single nucleotide polymorphisms (SNPs) rs416905 (T/C) and rs402007 (G/C) of the ADAMTS-1 gene were genotyped by polymerase chain reaction and DNA sequencing.

RESULTSFrequencies of the rs402007 GC+CC genotype and the C allele were significantly different between the two groups (68.84% vs. 60.67%, χ2=9.012, P=0.003, OR=1.432; 45.24% vs. 38.54%, χ2=11.208, P=0.001, OR=1.318). Binary logistic regression has confirmed that the above difference was significant (P=0.001, OR=1.521, 95%CI: 1.183-1.955). The frequencies of TC+CC and GC+CC genotypes were similar between the two groups, and so was it with the C allele. The two SNPs had been in complete linkage disequilibrium (D'=1.0, r2=1.0).

CONCLUSIONThe rs416905 and rs402007 polymorphisms of the ADAMTS-1 gene may be associated with ischemic stroke caused by LAA. The C allele of the rs402007 locus may be a susceptibility factor for this subtype of stroke.

ADAM Proteins ; genetics ; ADAMTS1 Protein ; Aged ; Alleles ; Atherosclerosis ; complications ; Base Sequence ; Blood Glucose ; metabolism ; Brain Ischemia ; complications ; Fasting ; blood ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Logistic Models ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Risk Factors ; Sequence Analysis, DNA ; Smoking ; Stroke ; blood ; etiology ; genetics

The clinical data of a case of neonatal bacterial meningitis complicated with posterior fossa subdural empyema in the West China Second University Hospital in December 2019 were retrospectively analyzed.The 3-day-old male newborn was admitted for jaundice with decreased intake for 1 day.Examinations on admission showed increased C-reactive protein.The count of karyocytes in cerebrospinal fluid (CSF) significantly increased, which were mainly neutrophils, and pyocytes could be found.The protein content in CSF increased, while that of glucose decreased.Both CSF culture and blood culture detected the presence of Escherichia coli.Enhanced magnetic resonance imaging (MRI) of the head indicated large abnormal signals in bilateral occipital extra-cerebellar spaces.T1-weighted images presented mixed low and high signals, and T2-weighted images presented high signals, and marginal enhancement was observed after enhancement.After 6 weeks of antibiotic treatment using Meropenem combined with Ceftazidime, the CSF index of the newborn patient returned to normal, and the subdural empyema of the posterior fossae subsided.Bacterial meningitis complicated with subdural empyema of posterior fossa is a rare and critical disease of the central nervous system.It is easily misdiagnosed due to the atypical clinical manifestations and early imaging features.The disease requires an adequate course of anti-infective treatment.Surgical removal of the empyema should be performed if the anti-infective treatment is unresponsive.

Objective To understand the status of economic burden of maternal health care of pregnant women in China, and to discuss the equity and accessibility of maternal health care during pregnancy among different regions and populations. Methods A total of 9 193 women during early pregnancy were recruited from the Chinese Pregnant Women Cohort Study between July 25, 2017 and November 26, 2018. Information on general condition and economic burden of maternal health care was surveyed. SPSS 25.0 software was used for statistical analysis. Results The median direct medical cost of maternity check-ups for pregnant women was 400 CNY per visit, and the median cost of lost work was 360 CNY per visit. The analysis of the results showed that the median medical expense was highest in pre-pregnant women with BMI <18.5kg/m² (P=0.008). The median medical expense was higher in urban residents than rural residents (P<0.001). Families with fewer members had higher direct medical expenses (P<0.001, P_trend=0.003). The higher the socioeconomic status was, the higher the direct medical expense was (P<0.001, P_trend=0.003). The cost of lost work was lower in pregnant women with higher socioeconomic status (P=0.025, P_trend=0.017). In addition, the medical expense was highest in women living in the eastern part of China (P<0.001). The direct medical expenses (P=0.002) and lost-time expenses of pregnant women in the North were higher than those in the South (P=0.013). Conclusion The problem of equity and accessibility of maternal health care still existed. It is recommended that relevant departments further improve maternal health care services and build a diversified healthcare service system to ensure maternal and child health and promote eugenics.

Objective To analyze the prevalence of depression in early pregnancy, explore its possible influencing factors, and provide reference for mental health care during pregnancy. Methods A baseline survey of 9 193 early pregnant women recruited by the Chinese Pregnant Women Cohort Study (CPWCS) program was conducted. Edinburgh Postnatal Depression Scale was used to assess the depression symptoms in early pregnancy. The χ² test and multivariable logistic regression were used to analyze the influencing factors. Results The rate of depression in early pregnant women in CPWCS was 46.50%. Multivariate analysis showed that unplanned pregnancy (OR=1.23, 95%CI: 1.12~1.35, P<0.001), passive smoking (OR=1.28, 95%CI: 1.18~1.39, P<0.001), drinking (OR=1.35, 95%CI: 1.12~1.63, P=0.002) and consumption of carbonated or sugary beverages （OR=0.80, 95%CI: 0.73~0.88, P<0.001） were risk factors for depression during early pregnancy, while enough sleep (OR=0.71, 95%CI: 0.57~0.88, P=0.002), moderate-high level of physical activity (OR=0.87, 95%CI: 0.78~0.98, P=0.023), healthy intake of vegetables and fruits（OR=0.60, 95%CI: 0.51~0.70, P<0.001), animal foods（OR=0.82, 95%CI: 0.74~0.91, P<0.001） and milk and dairy products（OR=0.81, 95%CI: 0.72~0.90, P<0.001）were protective factors. Conclusion The rate of depression was high and it was affected by many factors. It is necessary to pay more attention to depression symptoms during early pregnancy and carry out targeted psychological health care during pregnancy.

Objective: Alport syndrome was an inherited kidney disease caused by the mutation of COL4A3, COL4A4, or COL4A5. Whole-exome sequencing was used to detect the mutations on these genes for the molecular diagnosis of Alport syndrome. Methods: A 6-year-old girl found accidentally with microscopic hematuria at the age of 4. The clinical data and blood sample of the family including proband, parents, brothers, and sisters were collected. Whole exome sequencing was conducted using their genomic DNAs. Results: A novel heterozygous frameshift mutation c.1826delC (p.Pro609Glnfs*44) was found in the exon 25 of the COL4A4 (NM_000092) in the proband, the father, and the sister, showing an autosomal dominant inheritance pattern of Alport syndrome. This mutation of COL4A4 was confirmed by mutation analysis, and the mutation of c.1826delC was verified by Sanger sequencing. No mutations on COL4A3 and COL4A5 were detected in this family. And the mother and brother are normal wide-type. Conclusions This novel mutation is a valuable addition to the current genetic profile of Alport syndrome, and provide us a better understanding of the disease. Whole-exome sequencing is a power tool to identify the novel mutations of inherited disease and contribute to the molecular diagnosis of disease.

Objective: To study the relationship between exposure factors in early pregnancy and preterm birth (PB), low birth weight (LBW) and small for gestational age (SGA) of neonates. Methods: A total of 3 172 pregnant women who were enrolled in the project of Chinese Pregnant Women Cohort Study-Peking Union Medical College (CPWCS-PUMC) from July 25, 2017 to July 24, 2018 and delivered before December 31, 2018 were selected as subjects in this study. The relationship between exposure factors in early pregnancy and adverse outcomes of neonatal delivery was analyzed by using binary logistic regression analysis. Results: The incidence rates of PB, LBW and SGA were 4.76%, 3.53% and 5.74%, respectively. In terms of PB, the analysis results showed that the gestational weight gain (GWG) and living in northern China were protective factors, while premature rupture of membranes, gestational hypertension, dental examination or treatment within 1-3 years and family with 3-4 members were risk factors. In the respect of LBW, GWG and daily consumption of milk and dairy products were the protective factors, while premature rupture of membranes, gestational hypertension, sedentary working time more than 6 hours, dental examination or treatment within 1-3 years and passive smoking were risk factors. For SGA, baby girl, passive smoking, peanut oil consumption and unsalted taste were risk factors, while folic acid supplementation was protective factor. Conclusion The risk factors for PB, LBW and SGA were multifactorial, and relevant specific measures should be taken to reduce the occurrence of adverse neonatal outcomes.