Objective To explore the clinical features and prognostic factors of gastric cancer patients liver metastasis.Methods Data from 7055 patients with gastric cancer were retrieved from Surveillance,Epidemiology and End Results(SEER)database between 2010 and 2015.The patients were divided into the liver metastases group(901 cases)and the non-liver metastases group(6154 cases)according to whether liver metastasis occurred.Univariate and multivariate Cox regression were used to analyze the prognostic risk factors,and the Kaplan-Meier method was used for survival analysis.Results There was a significant difference in age,gender,race,T stage,N stage,primary surgery,radiotherapy and tumor size between the two groups(P<0.05),and the median survival time of patients in the liver metastases group was 6 months,non-liver metastases group was 25 months.Cox regression analysis showed that age(P=0.009),tumor grade(P<0.001),surgery(P<0.001)and chemotherapy(P<0.001)were the main factors affecting the prognosis of gastric cancer with liver metastases.Conclusion Age,tumor grade,surgery and chemotherapy were the prognostic risk factors for gastric cancer with liver metastases.A nomogram based on age,tumor grade,surgery and chemotherapy has a good survival prediction significance for gastric cancer with liver metastases.

Objective:To explore the clinical, biochemical and genetic characteristics of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes. Methods:Two children with 17β hydroxysteroid dehydrogenase 10 (HSD17B10) deficiency and a child with β-ketothiolase deficiency (BKD) diagnosed at Shanghai Children′s Hospital between 2014 and 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to blood acylcarnitine, urinary organic acid and genetic testing, and candidate variants were analyzed with bioinformatic tools.Results:The main symptoms of the three children had included epilepsy, developmental delay, hypotonia and acidosis. Their blood acylcarnitine methylcrotonyl carnitine (C5: 1), 3-hydroxyisovalerylcarnitine (C5-OH) and 3-hydroxybutylcarnitine (C4OH) were increased to various extents, and urine organic acids including methyl crotonylglycine and 2-methyl-3-hydroxybutyric acid were significantly increased. Child 1 and child 2 were respectively found to harbor a c. 347G>A (p.R116Q) variant and a c. 274G>A (p.A92T) variant of the HSD17B10 gene, and child 3 was found to harbor compound heterozygous variants of the ACAT1 gene, namely c. 547G>A (p.G183R) and a c. 331G>C (p.A111P). Among these, the c. 274G>A (p.A92T) and c. 331G>C (p.A111P) variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variant of unknown significance (PP3_Strong+ PM2_supporting) and likely pathogenic (PM3+ PM2_Supporting+ PP3_Moderate+ PP4). Conclusion:Both the HSD17B10 deficiency and BKD can lead to Isoleucine metabolism disorders, which may be difficult to distinguish clinically. Genetic testing can further confirm the diagnosis. Discoveries of the HSD17B10: c. 274G>A (p.A92T) variant and the ACAT1: c. 331G>C (p.A111P) variant have enriched the mutational spectrum of the two diseases.

AIM: To explore the molecular mechanism of sequoiaflavone affecting gastric cancer cells. MEHTODS: Gastric cancer cell line AGS cells were treated with gradient concentrations of sequoiaflavone, and then induced by PI3K/AKT signaling pathway activator. The optimal inhibitory concentration and time of semi-inhibitory concentration of red cedar flavonoid on AGS cells were detected by CCK-8, and the changes of cell proliferation, migration and invasion ability were detected by colony formation assay, transwell assay and wound healing assay. PI3K/AKT signal pathway related proteins p-PI3K, PI3K, p-AKT and AKT were detected by western blot. RESULTS: Sequoiaflavone inhibited AGS cells in a concentration-dependent manner. The half inhibitory concentration was 0.5 mmol/L, the optimal treatment time was 48 h. The protein expression of p-PI3K and p-AKT was down regulated. The proliferation, migration and invasion of AGS cells were decreased after treated with sequoiaflavone. After treated with PI3K / AKT signal pathway activator, the protein expression level of pPI3K and p-AKT was partially reversed, and the ability of cell viability, proliferation, migration and invasion was also partially improved. CONCLUSION: Inactivation of PI3K/AKT signaling pathway caused by sequoiaflavone inhibited gastric cancer cells proliferation, migration and invasion ability.

Abstract OBJECTIVE To analyze the inflammation-related molecular targets of Pien Tze Huang in the treatment of hepatocellular carcinoma and to preliminary explore its mechanism. METHODS Obtain the ingredients and targets of Pien Tze Huang through TCMSP and BATMAN databases. Obtain the disease targets of hepatocellular carcinoma through Genecards, OMIM and TCGA databases. Take the intersection of compound targets and disease targets to get Pien Tze Huang’s target for the treatment of hepatocellular carcinoma. Obtain the related genes of inflammation pathway from the GSEA database, and then analyze the correlation between Pien Tze Huang’s therapeutic targets for hepatocellular carcinoma and inflammation-related genes to screen out inflammation-related targets, and explore the mechanism through GO and KEGG enrichment analysis. Then, single-factor cox analysis and LASSO regression were performed to construct related prognostic models. The 10 core targets were screened out through the protein-protein interaction(PPI) network. The model gene and the core target were intersected. The core compounds were screened out through the drug-compound-target network. Perform molecular docking verification between the core compound and the target. Construct a nomogram to assess the prognosis of patients. RESULTS Obtained 162 Pien Tze Huang targets, 522 hepatocellular carcinoma targets, 20 Pien Tze Huang therapeutic targets for hepatocellular carcinoma, and 16 inflammation-related targets. The enrichment analysis of GO and KEGG showed that their effects were mainly through biological functions such as monooxygenase activity, oxidoreductase activity, and chemical carcinogenesis-receptor activation. The ROC curve of the prognosis model calculated AUC as 0.780 in 1 year, 0.688 in 3 years, and 0.642 in 5 years, indicating that the model was reliable. The prognostic model intersects with the core target of PPI to get 5 targets: PON1, IGF2, NQO1, CCNB1 and IGFBP3. The nomogram was constructed using CCNB1, NQO1, and T staging, and its c-index was 0.726, indicating the reliability of the model. The drug-compound-target network suggested that quercetin was the core compound and targets the above two genes. CONCLUSION Pien Tze Huang’s treatment of hepatocellular carcinoma mainly uses quercetin to target CCNB1 and NQO1 to exert anti-inflammatory effects, and its prognostic model can be used to predict the survival of patients.

Jiaji points have been widely used in the treatment of cerebral palsy, spinal cord injury, stroke, cervical spondylosis, lumbar disc herniation, ankylosing spondylitis, herpes zoster and other diseases, and shown good curative effect. The treatment methods for Jiaji points are rich, including acupuncture, electroacupuncture, moxibustion, percussion, fire needle, acupoint injection, warm acupuncture, and bloodletting. And acupuncture and electroacupuncture are the most application treatment methods. But the treatment shows narrow, scope of diseases, like internal medicine, pediatrics, and gynecology. Such treatment of Jiaji points are seldomly combined with other acupoints. Though Jiaji point treatment has good curative effect for insomnia, depression, uterine fibroids and other diseases, clinical application is few.

Objective:To assess rapid on-line evaluation (ROLE) of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for pancreatic masses.Methods:Data of patients with solid pancreatic masses who underwent EUS-FNA in Peking University First Hospital from October 2017 to October 2019 were retrospectively analyzed. Patients were divided into the ROLE group and the control group. The number of FNA passes in ROLE group was decided by the cytopathologist based on the number of pancreatic tissue cells or heteromorphic cells obtained, while that in the control group was decided by the endoscopy physician according to the visual observation of tissue strips. The cytological and histological diagnosis of EUS-FNA specimen were made by another cytopathologist. The gold standard for final diagnosis was based on the histological diagnosis of surgically resected specimens. For patients who did not undergo surgical treatment, the final diagnosis was made based on the clinical course, imaging, tumor markers and feedback on treatment. The diagnostic yield, the accuracy, the sensitivity, the specificity, FNA passes, puncture time and adverse events were compared between the two groups.Results:A total of 87 patients were enrolled, 51 in the ROLE group and 36 in the control group. The diagnostic yield of the ROLE group was higher than that of the control group without significant difference [98.0% (50/51) VS 86.1%(31/36), P=0.078]. The number of FNA passes in the ROLE group was significantly less than that in the control group (median 2 VS 3, P<0.001). No significant difference in mean FNA puncture time was found between the ROLE group and the control group (19.4 min VS 18.5 min, P=0.089). There were no significant differences between the two groups with regard to the diagnostic yield, the sensitivity, the specificity, the positive predictive value, the negative predictive value or the incidence of adverse events. Conclusion:ROLE of EUS-FNA for pancreatic solid tumor may improve tissue acquisition for puncture, reduce the number of FNA passes, and may not significantly increase the procedure time and risk of puncture.

Objective Mutations in polymerase gamma gene (POLG) are believed to be an important cause of early and juvenile onset of non-syndromic intractable epilepsy. The aim of this study is to investigate the incidence/prevalence of POLG pathogenic variants in epilespy patients of Han population through sequencing it.Methods Han Chinese patients with seizures prior valproic acid (VPA) exposure at Shanghai Children's Hospital were collected from 2015 to 2019. The clinical diagnosis was based on the 2014 Consensus Statement of Epilepsy by the International League against Epilepsy (ILAE). Blood sampling were performed before VPA treatment. The POLG gene DNA was sequenced by either the first or the next generation sequencing (NGS). The POLG variant burden was illustrated. Liver functions were tested to describe whether they experienced VPA toxicity. Results Totally 216 Han Chinese patients were included, aged from 1 month to 15 years old, 102 were male and 114 were female. The onset age was 1 month old to 13 years old, and the epilepsy course ranged from 2 weeks to about 3 years. VPA treatment was delivered for the generalized or intractable partial seizures at standard dosage. No patient experienced hepatic toxicity following VPA exposure. DNA sequencing data showed no patient had either a homozygous mutation or compound heterozygous mutation of POLG. Single heterozygous mutations of c.1150G>T and p.D384Y were found in 2 patients, and single heterozygous mutation of c.156_158dupGCA was found in 1 patient. None of these variants showed clinical significance. Conclusions Functional modifying POLG homozygous mutations and compound heterozygous mutations were not detected and VPA toxicity was not seen in the current study. POLG mutation frequency might be rare in Han Chinese, and standard VPA therapeutic dosage might be safe for Han Chinese patients.

OBJECTIVE: To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis. METHODS: Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard. RESULTS: Two compound heterozygous mutations of TYR and OCA2 genes were identified respectively in 2 pedigrees with suspected OCA. The mutation of c.819+3insATATGCC in TYR and the mutation of c.1870G>C in OCA2 are first reported in this study. The pathogenicity analysis shows that two novel mutations are likely pathogenic by combination of prediction of SIFT, Polyphen-2 and Human Splicing Finder. CONCLUSION The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.
Albinism, Oculocutaneous ; DNA Mutational Analysis ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Membrane Transport Proteins ; Monophenol Monooxygenase ; Mutation ; Pedigree ; Pregnancy

school of acupuncture and moxibustion is the important component of the medicine of school, especially medical scholars. Through collecting and digging the medical books and literature of medical scholars in dynasties, the contribution to acupuncture academic development in Shandong region was introduced briefly so as to provide the references to the study on the regionalism of acupuncture school. The results showed that there was a long history of acupuncture from the Dynasty to the present and many medical scholars and medical books were sprung up. The systematic analysis on medical scholars, acupuncture works and literature as well as academic thoughts are conductive to the great-leap-forward development of school of acupuncture and moxibustion.

, the famous medical scholar of the Northern Song Dynasty, compiled (, hereinafter referred to as ) based on the acupuncture achievements before the Song Dynasty. In reference to the records in , two acupuncture bronze figures were made and all of the text was inscribed on the stele. 's academic characteristics on acupuncture are reflected through these three different forms, including 4 aspects. ① Establishing the supplementation and classification of the numbers of acupoints; ② elaborating the indications of meridians and application of acupoints; ③ stressing the contraindication and nursing of prognosis; ④ revising acupuncture atlas and bone proportional measurement. , the bronze figure and the stele represent the eminent academic achievements of acupuncture in the Song Dynasty and have become the treasure of acupuncture history in China.
Acupuncture Therapy ; China ; Meridians