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Objective:To summarize the clinical and gene mutation characteristics of a child with Cowden syndrome and review the literature.Methods:The clinical data of a child with Cowden syndrome treated in the First Affiliated Hospital of Xinxiang Medical University in June 2020 were analyzed retrospectively.Taking " Cowden syndrome" , " PTEN gene" , " hamartoma polyps" , "child" , " Cowden syndrome and child" and " PTEN and child" as key words, literature was retrieved from Chinese databases (China National Knowledge Internet database and Wanfang database) and the PubMed database from the establishment of the database to March 2021. Results:A 13-year-old male had intermittent abdominal pain and abdominal distension for 5 months.Electron microscopic gastroenteroscopy showed multiple polyps, and focal lymphocyte aggregation and infiltration were found in tissue biopsy.Whole exon sequencing revealed a hemizygous mutation of c. 475 (exon5) A>T in PTEN gene, which led to the transformation of the 159 th amino acid from arginine to tryptophan.The prediction results of the tertiary structure of the protein indicated that the variation might affect the spatial structure of the protein and damage the protein function.According to the clinical characteristics, Cowden syndrome was diagnosed.The pedigree confirmed that the variation was inherited from the mother, who had a similar phenotype.No qualified Chinese report was retrieved.Among 41 English studies on PTEN gene mutation in children, there were only two reports related to pediatric Cowden syndrome.The hemizygous mutation of PTEN gene was not reported. Conclusions:The missense mutation of c. 475 (exon5) A>T in PTEN gene in this study is a novel cause of Cowden syndrome, and the case is the first case report in China.
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OBJECTIVE：To study the compositi on of the volatile oil from Compound chaihu guizhi decoction ，and to evaluate its in vitro anti-proliferative activity on human lung adenocarcinoma A 549 cells. METHODS ：The volatile oil from Chaihu guizhi decoction was extracted according to the steam distillation method of general rules 2004 in the 2015 edition of Chinese Pharmacopoeia（part Ⅳ）. The volatile oil components were analyzed by GC-MS combined with Kováts index ，and the relative content of each component was calculated by peak area normalization method. Using different concentrations of cisplatin （4，8， 16，32，64 mg/L）as positive control ，MTT assay was used to detect the inhibitory effects of different concentrations of volatile oil from Chaihu guizhi decoction （25，50，100，200，400 mg/L）on in vitro proliferation of A 549 cell after 48 h of treatment. Negative control group （with cells but without drugs ）was set up. RESULTS ：A total of 71 chemical components were isolated from the volatile oil ，among which there were 59 compounds identified ，sum of peak areas accounting for 84.99％ of the total peak area. The compounds with relatively high content included ar-curcumene （17.65％），β-bisabolene（9.57％），β-ocimene（7.05％）， α-curcumene（5.35％），2，5-dimethylbenzaldehyde（4.24％），linalyl isobutyrate （2.70％），α-cedrene（2.48％），δ-cadinene （2.07％）. Compared with negative control group ，the proliferation rate of cells were decreased significantly in 4-64 mg/L cisplatin groups and 25-400 mg/L volatile oil from Chaihu guizhi decoction groups （P＜0.05）. IC 50 of cisplatin and volatile oil from Chaihu guizhi decoction to in vitro proliferation of A 549 cells were 10.150 and 73.526 mg/L. CONCLUSIONS ：The volatile oil from Chaihu guizhi decoction mainly includes ar-curcumene ，β-bisabolene，β-ocimene，α-curcumene，which shows certain inhibitory effect on in vitro proliferation of A 549 cells.
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Cervical cancer is the second most common female reproductive system tumor in developing countries and ranks second among female cancer deaths worldwide. In recent years, with the continuous optimization and popularization of cervical cancer screening and preventive measures, the overall incidence rate of cervical cancer has decreased. But the incidence rate of cervical cancer in China is younger and differentiated. It continues to threaten the fertility, reproduction, mental health and life safety of women in China. In view of the current difficulties, precision medicine initiative (PMI) has opened a new chapter in the individualized prevention and treatment of cancer. Chinese medical workers need to learn from the beneficial results of international research organizations on early screening and prevention of cervical cancer, and explore the appropriate early screening and prevention strategies for cervical cancer in China.