Objective: To prepare the compound Yuxingcao dispersible tablets and investigate the dissolution of baicalin in vitro. Methods: The formulation of dispersible tablets was optimized by an orthogonal design test in terms of disinterating time.Results: The optimal disintegrants were composed of CMS-Na 5%,MCC 20%,L-HPC 10%,and disintegration time of prepared compound Yuxingcao dispersible tablets followed the quality specification of dispersible tablet in Chinese Pharmacopoeia 2005. The in vitro dissolution test indicated that more than 95% of baicalin dissolved in 3 minute from dispersible tablets. Concolusion: The formulation and preparation process of compound Yuxingcao dispersible tablets were simple and feasible.

Objective Daidzein solid dispersions were prepared by solid dispersion technology to improve in vitro dissolution rate. Methods Daidzein solid dispersions were prepared by solvent method using polyvinyl pyrrolidone K30 ( PVP K30) as carrier.The in vitro dissolution characteristics of solid dispersions were evaluated,and the properties were detected by IR and XRD. Results The dissolution rates of different mass ratio of daidzein-PVP solid dispersion were significantly improved compared with that of daidzein API.The cumulative dissolution of solid dispersion with mass ratio of 1∶6 within 30 minutes was up to 87.8%,equivalent to six times of API. The in vitro drug release kinetics were fitted mathematically to Korsemeyer-Peppas model. Conclusion Solid dispersion with PVP K30 as carrier could significantly improve dissolution rate of daidzein.

AIM: To obtain high level expression of recombinant human truncated osteoprotegerin (TOPG) with higher bioactivity in CHO-DHFR~-cells. METHODS: The recombinant vector pcDNA3.1/DHFR-TOPG was constructed and transfected into CHO-DHFR~- Cells by the directions of LipofectAMINE~(TM)2000 for stable expression. The stable expression cell strains were screened by selective medium IMDM with 50 mL/L FCS, then serially passed in methotraxate (MTX) for gene amplification. The expression were analyzed by ELISA and RT-PCR. At last, the bioactivity analysis was performed in vitro. RESULTS: The expression level of recombinant truncated human OPG was up to 6 mg/L·72 h, and it had significant suppression effect on the formation of OLC(P<0.05). CONCLUSION: Recombinant truncated human OPG has high expression and bioactivity. The results make it possible for further studying and clinical implying of OPG.

Objective To explore the application of the tracking scan technique in 16-slice spiral CT angiography, in order to improve the quality of CTA. Methods Three hundred patients who were divided into three groups randomly underwent CTA in tracking, testing and estimation scan respectively with GE LightSpeed 16-slice spiral CT. The data of all patients were transmitted to the workstation (AW4.2) and reconstructed. The quality of all images were evaluated by three experienced doctors with double-blind method and divided into four grades (A, B, C and D) from optimal to poor. Results The rate of grade A, B, C and D was 89.00%, 7.00%, 4.00% and 0 respectively for tracking scan, 70.00%, 11.00%, 15.00% and 4.00% respectively for testing scan, while 61.00%, 13.00%, 21.00% and 5.00% respectively for estimation scan. Conclusion Tracking scan technique is superior to testing and estimation scan in image quality of 16-slice spiral CT angiography.

Two pedigrees are reported here including two siblings and a boy who were diagnosed with Aicardi-Goutières syndrome type 3 (AGS3) caused by compound heterozygous variation of RNASEH2C gene. Prenatal gene diagnosis was performed when their mothers were pregnant again. All three cases presented with epilepsy, microcephaly, muscular hypertonia and severe language, motor and mental retardation. In pedigree 1, genetic analysis showed compound heterozygous variants of c.194G>A (p.Gly65Asp) and c.434G>T (p.Arg145Leu) in the RNASEH2C gene of proband 1 and her younger brother, which were inherited from their mother and father respectively. While in pedigree 2, c.194G>A(p.Gly65Asp) and c.227C>T(p.Pro76Leu) compound heterozygous variants in the RNASEH2C gene were found in proband 2, which were inherited from his father and mother, respectively. Diagnosis of AGS3 was confirmed in these three cases based on their medical history and the testing results. The mothers from the two families underwent prenatal diagnosis in their subsequent pregnancy, and the variation only inherited from the mothers was detected, suggesting that the two fetuses are carriers. Both families chose to continue the pregnancy and delivered at full-term. No growth or development abnormalities were reported in the children during a one-year follow-up.

Objective:To summarize the genetic diagnosis of two fetuses with clinically suspected Bardet-Biedl syndrome (BBS) and to provide information for genetic counseling and prenatal diagnosis of BBS.Methods:Case one had prenatal care on October 2018 in Shenzhen Maternity and Child Healthcare Hospital and was clinically suspected of fetal BBS as bilateral renal parenchyma echo enhancement as well as polydactyly (six toes on each foot) were shown on ultrasonic examination at 18 +1 gestational weeks. Case two was another suspected fetal BBS for enlarged kidneys with echo enhancement as well as polydactyly (six fingers and toes on each hand and foot) on ultrasonic examination at 26 +4 gestational weeks on August 2016 and the parent requested for termination. Parents of both cases requested for genetic analysis. Amniotic fluid sample was obtained in case one at 19 +6 weeks through amniocentesis, and umbilical cord specimen of case two and peripheral blood samples of the parents were collected. Genetic analysis of the fetuses and their parents was performed using exon capture and next-generation sequencing and the results were validated using Sanger sequencing. Results:Case one carried paternally inherited c.718G>A (p.Gly240Ser) (possible pathogenic) mutation and maternally inherited c.497C>A(p.Ala166Asp) (possible pathogenic) mutation in BBS7 gene. While one paternally inherited mutation c.1002delT(p.N335Ifs*47) (pathogenic) and one maternally inherited heterozygous mutation c.728G>A (p.Cys243Tyr) (possible pathogenic) were identified in BBS7 gene of case two. The three unreported missense mutations were predicted to be harmful by bioinformatics software and the mutation sites were conservative after comparing with multiple species-based protein sequences. Conclusions:Enlarged kidneys with echo enhancement and polydactyly may indicated a BBS fetus caused by BBS7 gene mutation. Whole exome sequencing could provide relevant information for prenatal diagnosis and genetic counseling in these cases.

According to the principle of the types of hemangioma and the special structure of lip,infantile hemangioma is divided into 7 types as follows:superficial skin hemangioma,lip skin composite hemangioma,lip skin deep hemangioma,lip mucosa superficial hemangiomas,lip mucosa compound hemangioma,lip mucosa deep hemangioma and full-thickness lip hemangioma.Special structure and function of lip leading to tumor growth uniqueness and particularity of typing.Application of long-pulse laser combined with optimized pulsed light therapy is effective in the treatment of lip hemangioma.

Nanocrystals are nanoscale (1-1000 nm) dispersion systems in which small numbers of surfactants or polymers are used as stabilizers to disperse insoluble drug particles in water or oil. Nanocrystals enjoy not only high drug content, but also a simple and mature preparation process. At present, 24 nanocrystals products that have been marketed mainly focus on enhancing the solubility and bioavailability of poorly soluble drugs. And recent years have witnessed an increasing number of research reports on target drug delivery of nanocrystals through particle size control and surface modification. This paper mainly introduces three targeting strategies for prolonging the in vivo circulation time of nanocrystals, increasing the affinity for tumor cells and achieving the response to internal and external stimuli, and discusses the current challenges in the application of nanocrystal technology to targeted anti-tumor drugs.

Objective:To analyze the phenotypes and genetic etiology of microcephaly- seizures-development delay (MCSZ) syndrome.Methods:The patient was diagnosed with MCSZ syndrome in June 2018 at Shenzhen Maternity and Child Healthcare Hospital. She was the couple's first child, and the mother conceived a second child in 2020. The clinical data of the proband were retrospectively analyzed, and the bioinformatics analysis and whole-exome sequencing (WES) were performed on the proband and her parents to identify the pathogenic variants, which were further validated using Sanger sequencing. The prenatal genetic diagnosis of the second fetus was performed following the molecular diagnosis of the proband was confirmed. The clinical manifestations and pathogenesis of MCSZ syndrome were summarized by reviewing related literature.Results:(1) Case report: The patient, an eight-month-old girl, was admitted to our hospital due to microcephaly and repeated seizures. Another clinical characteristic was mental retardation. Auditory evoked potential detected moderate impairment of the left auditory nerve pathway. WES showed a compound heterozygous variation in the PNKP gene of the proband. Moreover, the pathogenic variation, c.199-10_203delinsTCTGAGGGGT, was inherited from the father, and the likely pathogenic variation, c.1505C>T(p.P502>L), was inherited from the mother, which was both de novo mutations. The compound heterozygous variation in the PNKP gene was considered genetic etiology based on the genetic testing and clinical features. Prenatal diagnosis showed that the second fetus did not inherit the PNKP gene variants from the parents and the couples chose to continue the pregnancy. A girl was born, and her psychomotor development and occipitofrontal size circumference were normal at 13 months old. (2) Literature review: 39 MCSZ syndrome cases were retrieved, including the present case and 38 cases from 12 relevant literature. The clinical characteristics were microcephaly (91.7%, 33/36), seizures (88.2%, 30/34), development delay (96.4%, 27/28), hyperactivity (25.6%, 9/39), gastroesophageal reflux (10.3%, 4/39), and hearing loss (7.7%, 3/39). Most patients' first onset of epilepsy was in infancy (96.3%, 26/27). Cranial MRI examination showed brain dysplasia in 31 cases (91.2%, 31/34). Conclusions:When the fetal head circumference is smaller than normal and is progressively reduced combined with postnatal microcephaly, epilepsy, developmental retardation, hyperactivity disorder, gastroesophageal reflux, and hearing loss, MCSZ syndrome should be considered. The prognosis varies widely, and genetic testing facilitates the early diagnosis and genetic counseling of MCSZ syndrome.

【Objective】 To investigate the role of solute carrier family 7 member 11 (SLC7A11) in the pathogenesis and progression of clear cell renal cell carcinoma (ccRCC) and its prognostic significance. 【Methods】 Mendelian randomization analysis was employed to identify genes causally associated with the risk of ccRCC.The expression patterns and prognostic relevance of SLC7A11 were assessed using RNA sequencing data and clinical information obtained from the UCSC Xena pan-cancer cohort.Gene set enrichment analysis (GSEA) was conducted using data from The Cancer Genome Atlas Kidney Renal Clear Cell Carcinoma (TCGA-KIRC) dataset (training set).A prognostic model based on SLC7A11 was then developed using stepwise Cox regression and validated externally in the E-MTAB-1980 cohort (validation set) . 【Results】 Elevated level of SLC7A11 was associated with an increased risk of ccRCC (HR=1.27, 95%CI: 1.15-1.40, P<0.001).SLC7A11 was overexpressed in various tumors and correlated with higher T stage and poorer survival (P<0.05).GSEA demonstrated that SLC7A11 was enriched in pathways related to proliferation and metastasis, including E2F and epithelial-to-mesenchymal transition signaling pathways.Moreover, the SLC7A11 prognostic model exhibited robust predictive performance in both the training set (1-, 3-, and 5-year AUC=0.78, 0.73, 0.71, respectively) and the external validation set (1-, 3-, and 5-year AUC=0.70, 0.71, 0.72, respectively). 【Conclusion】 SLC7A11 can be a potential biomarker and therapeutic target for ccRCC, offering novel perspectives for precision medicine.