Objective To explore the clinical characteristics and gene mutation in a patient clinically diagnosed as dopa-responsive dystonia (DRD) without family history.Methods The clinical characteristics of a patient clinically diagnosed as DRD without family history were collected and molecular and bioinformatic analyses were performed.Results The patient demonstrated as type A tyrosine hydroxylase deficiency and a compound heterozygous mutation of tyrosine hydroxylase (TH) gene was found,including a known nonsense mutation,c.457C＞T and a novel missense mutation,c.734G＞T that was probably pathologically predicted by bioinformatic analysis.Conclusion c.734G＞T may be a novel pathological mutation of TH gene.

Objective:Gastrointestinal heat retention syndrome (GHRS) is associated with lung-heat syndrome and is related to recurrent respiratory infection.Upper respiratory tract infection (URTI) lung heat syndrome is common in children.The study will explore the effect of GHRS on the structure and function of gut microbiota in children with URTI lung-heat syndrome.Methods:Participants were divided into both groups using the self-developed URTI scale and the "GHRS Diagnostic Scale · Pediatric Part":GHRS-positive children (LS group) and GHRS-negative children (L group).General information,clinical symptoms,and stool were collected.We used 16S rRNA amplicon sequencing technology to determine the gene sequence of the V3-V4 region in feces and measure the gut microbiota of the both groups at the genus level.Results:A total of 23 children were included in the both groups.There were 12 cases in the LS group and 11 cases in the L group.There was no statistical difference between the both groups in age,gender,height,weight,and body mass index.The effective sequences shared by the both groups accounted for 85.66％ of the total.In the gut microbiota,there was no difference in the α diversity and the β diversity between the both groups.Compared with the L group,the LS group had a significant increase in the relative abundance of the Rurninococcus gnavus group,Prevotella-9,Staphylococcus,and Actinomyces(P ＜.05).The functions of the both groups of microbiota primarily concentrate on metabolism,genetic information processing,and environmental information processing.The relative abundance of signaling molecules and interactions in the LS group were higher than that in the L group (P ＜.05).The redun-dancy analysis (RDA) showed that the URTI score had the greatest impact on the distribution of microbiota.Conclusion:GHRS may affect the development of URTI lung-heat syndrome by changing the relative abundances of gut microbiota.

Objective:Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants.Methods:In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2.Results:We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients.Conclusion:Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.

The clinical manifestations of colorectal polyps are consistent with the characteristics of dampness, stickiness and heaviness. The TCM constitutions in the prone population are mostly related to dampness. The pathological changes of intestinal flora imbalance, intestinal micro inflammation, neuroendocrine immune network and abnormal aquaporin in colorectal polyps are consistent with the research results of modern mechanism of dampness pathogen. This article believed that the TCM pathogenesis of colorectal polyps caused by damp pathogen is the accumulation of spleen deficiency and dampness caused by improper diet, poor emotion and other factors, and the interweaving of various diseases and pathogens to form tangible foreign bodies. According to the pathogenic characteristics of damp pathogen and the pathogenic factors of colorectal polyps, the influence of damp pathogen on the pathogenesis of colorectal polyps was discussed, in order to provide an effective TCM theoretical basis for the diagnosis and treatment of colorectal polyps in clinic.

Objective To investigate the intervention effects and mechanism of icariin on prostate cancer based on network pharmacology and animal experiments.Methods The targets of icariin were predicted using the SwissTargetPrediction database.Protein-protein interaction networks were constructed with the String database,and core targets were screened using Cytoscape 3.9.1.GO and KEGG enrichment analysis on core targets were conducted with the Metascape database to predict the mechanism of action.A PC-3 tumor-bearing mouse model of prostate cancer was established to observe the inhibitory effects of icariin alone and in combination with paclitaxel on tumor growth.Results Network pharmacology predictions suggested that icariin has potential therapeutic effects on prostate cancer,with core targets potentially including serine/threonine kinase 1(AKT1),B-cell lymphoma-2(BCL2),epidermal growth factor receptor(EGFR),heat shock protein 90 alpha family class A member 1(HSP90AA1),heat shock protein 90 alpha family class B member 1(HSP90AB1),nuclear factor kappa B subunit 1(NF-κB1),tumor protein p53,etc.Animal experiments found that compared with the model control group,the tumor volume growth in the icariin group and the paclitaxel group was significantly inhibited,and the serum tumor necrosis factor content was significantly reduced,while testosterone levels did not change significantly.Both groups significantly downregulated the mRNA expression of Notch1,Jagged1 and Hes1(P<0.05),with the combined treatment group showing a more significant inhibitory effect.Conclusions Both network pharmacology and animal experimental results confirmed that icariin has a significant inhibitory effect on prostate cancer.One of the mechanisms of its anti-tumor effects may be the significant inhibition of the activated Notch signaling pathway in tumors.

Tumor has become a major disease that seriously threatens human health and life. The incidence rate is increasing year by year， yet the underlying mechanisms remain incompletely understood. Traditional Chinese medicine （TCM）， a treasure of the Chinese nation and a wealth for people worldwide， plays an important role in the treatment of tumors and has been receiving increasing attention both in China and abroad. In earlier work， based on the symptoms and metastatic characteristics of tumors， and drawing on the TCM theory of Yin and Yang in combination with modern medical research on tumors， the ''Yin deficiency-cancer correlation'' hypothesis was proposed. This hypothesis holds that ''Yin deficiency'' of the body is a major cause of malignant tumors， and that nourishing Yin to eliminate the pathogenic factor of Yin deficiency can treat cancer. By using Yin-nourishing drugs to tonify Yin deficiency， the occurrence and development of malignant tumors can be effectively prevented. Common anti-tumor Yin-nourishing drugs include Glehniae Radix， Lilii Bulbus， Ophiopogonis Radix， Liriopes Radix， Asparagi Radix， Dendrobii Caulis， Dendrobii Officinalis Caulis， Polygonati Odorati Rhizoma， Polygonati Rhizoma， Lycii Fructus， Mori Fructus， Ligustri Lucidi Fructus， Ecliptae Herba， Rehmanniae Radix， and Anemarrhenae Rhizoma. These drugs are generally sweet in flavor， cold and cool in nature， and moist in texture. They have the functions of nourishing Yin fluids， generating body fluids， and moistening dryness， and can also clear heat， being primarily indicated for Yin deficiency with depletion of body fluids. In view of the potential advantages and value of treating malignant tumors by tonifying Yin deficiency with Chinese medicine， this paper reviews recent studies on the anti-tumor effects of active components of Yin-nourishing drugs. It further summarizes their mechanisms of action in inducing apoptosis of tumor cells， arresting tumor cell proliferation， inhibiting tumor invasion， metastasis， and angiogenesis， enhancing and regulating immune function， augmenting the efficacy of chemotherapeutic drugs， and reversing tumor drug resistance. This study provides an objective overview of research progress on Yin-nourishing drugs in tumor treatment and offers new ideas for cancer therapy.