For both Yin - and yang juandice observations were made on liver functions, bilirubin, RBC hematocrit, T lymphocyte subgroup, cholic acid, hyaluronie acid, laninated mucin. It was found that, for both group. there were, not only difference in signs and symptoms but also differences in laboratory indices. It was primarily supposed that, for yin - juandice. there are decrease of bilirubin catabolism by hepatic cells. Further, the source of bilirubin is increased, abnormal hepatic microcirculation, liver fibrosis and hypofunction of metabolism, the pathological characteristics of yin juandice being weekness in both body resistance, and the pathogens, with stagnation of bile and stasis of the blood.

Objective To perform a prenatal diagnosis for the second fetuses from 28 pedigrees with proband of mitochondrial disease due to mitochondrial DNA (mtDNA) mutation.Methods From April 2011 to November 2015,peripheral blood samples of 28 probands and their parents,urine samples of these probands and their mothers as well as amniotic fluid samples of the second fetuses from the 28 pedigrees were collected in Peking University First Hospital.DNA sequencing was used to identify mtDNA mutations.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to verify mutation sites,calculate mutation loads,and further confirm the diagnosis after birth.Microsatellite maker analysis was also performed on five short tandem repeats located in nuclear genes to exclude maternal contamination.Statistical analysis was carried out using independent t-test.Results In the 15 pedigrees carrying A3243G mutation,13 mothers and nine fetuses carried A3243G mutation.Neither the other two mothers nor their fetuses were positive for A3243G mutation.Among the 12 pedigrees with T8993G mutation,there were eight mothers carrying T8993G mutation and all of their fetuses carried the same mutation;and the other four mothers and their fetuses were negative for T8993G mutation.T10191C mutation was only found in one proband and the second fetus of that pedigree,but not in the mother.None of the fathers had mtDNA mutation.Results of PCR-RFLP were consistent with those of DNA sequencing.Short tandem repeat analysis demonstrated that amniocyte samples were from fetuses without maternal contamination.No mtDNA mutations were found in the six newborns who were negative for mtDNA mutations in prenatal diagnosis.The mean mutation load in urine samples of the six mothers without A3243G mutation in amniocytes was significantly lower than that of the nine mothers with A3243G mutation [(10.1 ±4.8) ％ vs (28.2 ± 15.1) ％,t=2.290,P=0.043].Conclusions The lower the mtDNA mutation load in maternal urine samples,the less the possibility she bears a child with mtDNA mutation.However,prenatal diagnosis of mitochondrial disease is necessary.

Objectives To provide prenatal diagnosis and genetic counseling for four athigh-risk pregnant women with a suspected family or personal history of fragile X syndrome (FXS) by genetic screening of fragile X mental retardation (FMR1) gene.Methods This study was conducted on four pregnant women (No.l to 4) who received outpatient treatment in Peking University First Hospital from August 2014 to June 2016.Genomic DNA was extracted from peripheral blood samples of the pregnant women and six of their family members,four of which were suspected or confirmed FXS and the other two were FMR1 gene carriers.Amplide X kits were used to detect CGG repeat size in FMR1 gene.Two amniocytes and one chorionic villi samples were collected from three pregnant women to extract DNAs for FMR1 gene and karyotyping analyses.Results There were patients diagnosed with FXS in all the families by detecting CGG repeat numbers in FMR1 gene.The pregnant woman No.1 was a permutation carrier;No.2 carried normal FMR1 alleles while her brother had a mutation with over 20 CGG repeats in FMRI gene at chromosome X.No.3 and 4 were full mutation carriers with over 200 CGG repeats in FMR1 gene.After genetic counseling,No.3 decided to terminate the pregnancy due to abnormal fetal karyotype (47,XY,+21) and full mutation of FMR1 alleles.No.1 and 4 continued to pregnancy as their fetuses were normal in FMR1 alleles and karyotype.No.2 continued to pregnancy as her fetus was free of FXS risk.Conclusions Prenatal diagnosis and genetic counseling should be conducted on women at highrisk for FXS to avoid birth defects.People with a family history of FXS should be tested for FMR1 gene carrier status.

n positive blood culture, and they are resistant to a variety of antimicrobial agents, which should be called attention.

Objective:To summarize the characteristics of genetic variation and prenatal diagnosis in pedigrees with X-linked adrenoleukodystrophy (X-ALD) and elucidate the value of prenatal diagnosis in preventing the birth of children with X-ALD.Methods:Twenty pedigrees, clinically diagnosed with X-ALD in Peking University First Hospital from November 2012 and March 2019, were included in this retrospective study. Genomic DNA was extracted from peripheral blood and amniotic fluid or chorionic villi samples of probands and their families for detecting variants in ATP-binding cassette subfamily D member 1 ( ABCD1) gene using polymerase chain reaction (PCR)-Sanger sequencing. Linkage analysis was also performed on five microsatellite markers near ABCD1 gene to exclude maternal contamination. Characteristics of ABCD1 gene variants and prenatal diagnosis of X-ALD pedigrees were summarized by descriptive statistics. Results:Twenty ABCD1 gene variants were identified in the 20 pedigrees. The variants in three probands that were not detected by next-generation sequencing were identified by PCR-Sanger sequencing. Among the mothers of the 20 probands, 17 carried ABCD1 variants and three did not. We performed 24 prenatal diagnoses on 20 pregnancies (24 fetuses) and identified eight fetuses with variants who were finally terminated. The 16 cases without variants were born alive. The validation results obtained after termination or delivery were consistent with those performed prenatally. Conclusions:No hotspot variants in ABCD1 gene are detected in these X-ALD patients and most variants are maternally inherited. PCR-Sanger sequencing is an effective method for detecting ABCD1 variants. Prenatal diagnosis for mothers who had a body with X-ALD could prevent another one from birth.

Objective To investigate neurological function, volume of cerebral infarction, changes of lipid peroxidation, and the intervention effect of compound angelica injection (CAI) on rats with focal cerebral ischemia injury. Methods Models of rat with cerebral ischemia were reproduced by middle cerebral artery occlusion (MCAO). All animals were randomly divided into sham-operation group, model group, CAI group, and edaravone group. 1 hour after the models were established, rats in the sham-operation group and model group received intraperitoneal injection with normal saline, while rats in CAI group and edaravone group received intraperitoneal injection with relevant medicine for continuing 7 days. Volume of cerebral infarction was detected by Tetrazole staining method, neurologic function were detected by neuroethology, and concentration of MDA in brain tissue was also detected. Results After 7-day cerebral ischemia, compared with the model group, volume of cerebral infarction in CAI group was significantly reduced (P<0.05), and the concentration of MDA was a little lower. Conclusion CAI has significant protective effects which can significantly improve neurological function, reduce volume of cerebral infarction, and alleviate the effects of lipid peroxidation of rats with focal cerebral ischemia injury.

Objective To evaluate comprehensive therapy in the treatment of keloid effect and the patients' satisfaction.Methods From 2002 to 2015,a total of 523 patients with comprehensive treatment,according to the treatment the patients were divided into group A (surgery combined radiotherapy group) and group B (operation with corticosteroid hormone therapy group),group C (corticosteroids in combination with radiotherapy group),and the therapeutic effect of patients with satisfaction was evaluate.Results Total effective rate of three groups of patients were 85.7％,84.0％,64.9％;the efficiency in group A was higher than that of group B and group C;there was statistically significant difference between group A and C (P＜0.05),but there were no significant difference between the group A and group B (P＞0.05).All the patients were follow up for one years and the adverse reaction in the three groups was slight and happened in the 2 month after cure.And the adverse reaction was all self-cure in the final follow up.Difference was statistically significant between three groups of patients' satisfaction,group B better than in group A and group C;there was no significant difference between group A and group B (P＞0.05);the difference between group B and C group was statistically significant (P＜0.05).Conclusions Three kinds of comprehensive therapy effect are obvious,among which surgical adjuvant radiotherapy effect is best,being worth to recommend for clinical use.

OBJECTIVE:To observe the clinical efficacy and safety of cyclocryosurgery,intravitreal injection of conbercept combined with Ahmed glaucoma drainage valve implantation,intravitreal injection of conbercept combined with compound trabeculectomy in the treatment of neovascular glaucoma(NVG). METHODS:A total of 39 NVG patients(40 eyes)selected from Sichuan People's Hospital during Jun. 2014-Aug. 2016 were divided into group A(16 cases,16 eyes),B(13 cases,14 eyes),C (10 cases,10 eyes)according to different treatment methods. Group A received cyclocryosurgery;group B received Ahmed glaucoma drainage valve implantation after given intravitreal injection of Conbercept ophthalmic injection(0.05 mL,for consecutive 7 d);group C received compound trabeculectomy after given intravitreal injection of Conbercept ophthalmic injection (0.05 mL,for consecutive 7 d). The intraocular pressures of 3 groups were observed before and after treatment,and the rate of intraocular pressure control,visual changes and the incidence of complications were observed after treatment. The occurrence of ADR was recorded. RESULTS:Before treatment,there was no statistical significance in intraocular pressure among 3 groups(P>0.05). Seven days,one month,three months and six months after treatment,intraocular pressures of 3 groups were decreased significantly compared to before treatment;intraocular pressure of group B was significantly lower than those of group A and C;group C was significantly lower than group A,with statistical significance(P<0.05). There was no statistical significance in intraocular pressure among 3 groups three and six months after treatment(P>0.05). The rates of intraocular pressure control in 3 groups were 62.5%,85.7% and 70.0% six months after treatment. Vision of 16 eyes in group A kept stable;vision of 3 eyes in group B were improved,that of 1 eye was decreased and those of 10 eyes kept stable;vision of 1 eye in group C was improved, that of 1 eye was decreased,and those of 8 eyes kept stable;there was no statistical significance in rate of intraocular pressure or vision among 3 groups(P>0.05).The incidence of exudation of anterior chamber in group A was significantly higher than group B and C,with statistical significance(P<0.05). There was no statistical significance in the incidence of other complications(P>0.05). Two patients of group A suffered from the increase of blood pressure during the operation,and recovered to normal after symptomatic treatment. No obvious ADR was found in other patients during treatment. CONCLUSIONS:Three kinds of therapy plans can effectively reduce intraocular pressure of NVG patients,and do not influence vision with less adverse reactions. Intravitreal injection of conbercept combined with Ahmed glaucoma drainage valve implantation or compound trabeculectomy can effectively reduce intraocular pressure in short time and the fromer is better than the latter. Above 2 regimens cause low incidence of complications.

Objective:To explore the role of parental origin verification in chromosomal microarray analysis (CMA) on the determination of the clinical significance of copy number variations (CNVs).Methods:This retrospective study collected clinical information from 73 core families who underwent prenatal diagnosis at Peking University First Hospital from November 2017 to December 2019. Indications for prenatal diagnosis included ultrasound abnormality in 54 cases (including 12 with thickened nuchal translucency (≥2.5 mm), four with fetal growth restriction, seven with abnormal pregnancy history, and 31 with isolated ultrasound abnormality), NIPT indicated high-risk in four cases, advanced age in nine cases, abnormal pregnancy history alone in three cases, intrauterine death in two cases and one with maternal mental retardation. Genomic DNA of amniotic fluid sample, chorionic villi, cord blood, fetal tissues, and fetal heart blood were extracted using genomic DNA extraction kit. The CNVs of prenatal samples in 73 subjects were analyzed using array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array). Peripheral blood DNA of the couples, and relevant families if necessary, were collected and analyzed in the same way. The results of parental origin detection in CMA were summarized.Results:A total of 76 CNVs were detected in these 73 samples, out of which nine were pathogenic and parental origin detection revealed that six were de novo, two were maternally, and one was paternally inherited; six CNVs were likely pathogenic, including three de novo, two maternally inherited and one paternally inherited; 20 CNVs were variants of uncertain significance, including five paternally inherited, three maternally inherited and 12 de novo; 41 CNVs were likely benign, among which 38 were inherited from parents with normal phenotype. Conclusions:Parental origin verification plays an important role in explaining the clinical significance of detected fetal CNVs and thereby can help to analyze its clinical effect and reproductive risk.

Objective: To understand the referral rate in children with abnormal refractive error in screening programs and associated factors, aiming to provide evidence for improving the rate and myopia prevention and control in the future. Methods: Using cluster sampling, three primary schools and three junior middle schools in Huangpu District, Shanghai were selected. All students were archived for refractive development, including examinations such as visual acuity, non cycloplegic autorefraction and axial length. The follow up visit and related factor information were collected through questionnaire, and the influencing factors of referral rate were analyzed by multivariate Logistic regression. Results: A total of 2 104 high risk children and adolescents with suspected refractive abnormalities were suggested follow up visit, and the actual referral rate was estimated to be 60.4%; the rate of referral to designated hospitals was estimated to be 58.8%. Nonconditional Logistic regression analysis showed that myopic status before the screening( OR=1.37, 95%CI =1.08-1.72), wearing spectacles or ortho contact lens( OR=2.05, 95%CI =1.62-2.59), myopic degree ( OR below -0.5 D =2.08, 95% CI =1.48-2.92, OR -3.0~-0.5 D =1.86, 95% CI =1.47-2.36), parents familiarity with screening results( OR=2.92, 95%CI =1.89-4.50), parents satisfaction with suggestions after screening ( OR=3.54, 95%CI =1.16-10.79) were significant factors associated with the referral rate( P <0.05). Conclusion The actual referral rate among children and adolescents needs to be improved. It is necessary to further optimize the informatization of refractive archives, strengthen popular science education for key population, standardize the professional interpretation of preliminary screening refractive examination results, improve parents awareness, participation and satisfaction through health education, and achieve the whole process management of refractive archives.