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Sesquiterpenoids are natural compounds composed of 15 carbon atoms， which can be divided into sesquiterpene alcohols， ketones， lactones， aldehydes， and carboxylic acids according to oxygen groups. These compounds are widely distributed in nature， and their physiological activities are diverse. For example， many sesquiterpenes with potential anticancer effects have been found for anti-tumor effects， including cytotoxicity， antioxidant， immune regulation， cell proliferation， and so on. In addition， some sesquiterpenoids have good application prospects in antibacterial， anti-inflammatory， and anti-cardiovascular diseases. Malignant tumors， inflammation， bacterial diseases， and cardiovascular diseases are the main diseases that cause human death， and natural products have unique advantages in the treatment of these diseases. Therefore， the development of new drugs that are easy to promote has become a new research hotspot. In this paper， the sesquiterpenes extracted from the natural components of Chinese herbs and plants with anti-tumor， anti-inflammatory， antibacterial， and anti-cardiovascular activities， such as Xanthium， Atractylodes， Convolvulus， Acanthium， Ligularia， Artemisia， Ligularia， Ligularia， Labiaceae Mint， Acanthophyllum， Turmeria， Ginger， and other Chinese herbs and plants， were discussed. The biological activities and related mechanisms of this compound were reviewed， which provided a reference for further research and clinical application of sesquiterpenes.
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OBJECTIVE@#To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome.@*METHODS@#The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents.@*RESULTS@#Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor de novo heterozygous variants of the CHD7 gene, namely c.4015C>T (exon 17) and c.5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c.6161A>C (p.Gln2054Pro) missense variant of COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient' s clinical phenotype.@*CONCLUSION@#The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.
Subject(s)
Humans , CHARGE Syndrome/genetics , DNA Helicases/genetics , DNA-Binding Proteins/genetics , Genetic Testing , Heterozygote , Mutation , Phenotype , Exome SequencingABSTRACT
Congenital disorder of glycosylation (CDG) is a group of genetic metabolic diseases involving multiple organs. A case of CDG caused by SLC35A2 gene mutation was diagnosed. The clinical characteristics included spasms, developmental retardation and multiple malformations. Video-electroencephalogram showed dysrhythmia. A de novo heterozygous missense mutation of SLC35A2 gene was detected by whole exome sequencing: c.844G>A (p.Gly282Arg). It was predicted to be likely pathogenic according to American College of Medical Genetics and Genomics guidelines which had not been reported in China.
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Objective:To explore the microbiological characteristics of donor blood culture and donor liver perfusion culture and summarize the clinical experiences to provide basic rationales for preventing donor-derived infections.Methods:From August 1, 2018 to November 26, 2018 and November 27, 2018 to December 31, 2020 at First Affiliated Hospital, Zhengzhou University, culture results of donor blood and donor liver perfusate were retrospectively reviewed.According to whether or not donor liver was obtained without breaking diaphragm, removing gallbladder intraoperatively and flushing bile through cystic duct, two stages were assigned: before and after improvement measures of liver donor, i.e.August 1, 2018 to November 26, 2018 and November 27, 2018 to December 31, 2020.The culture results of donor blood samples and donor liver perfusion fluid samples in two stages of liver transplantation were statistically analyzed and infection preventing measures during donor liver maintenance and obtaining donor liver examined.Results:A total of 486 cases of blood culture from potential donors and 478 cases of liver perfusion culture were analyzed.The results showed that the incidence of blood culture infection was 4.5% and 4.3% before and after improvement measures( χ2=0.008; P=0.927)while the incidence of perfusion fluid infection was 56.8% and 46.2%( χ2=4.569; P=0.031); Klebsiella pneumoniae was a major pathogen cultured in perfusion solution before improvement measures and Staphylococcus epidermidis after improvement measures. Conclusions:Before organ donation, infection screening and prevention of potential donors and corresponding measures during donor liver acquisition can reduce donor source infection and effectively lower the mortality of recipients.
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Objective To explore the correlation between main indicators of donor liver and early prognosis after liver transplantation.Methods The clinical data of 166 donors and recipients of post-mortem organ donation (DD) from June 2017 to June 2018 were retrospectively analyzed.The effects of donor age,sex,body mass index,serum sodium level,total bilirubin,prothrombin time and international standardized ratio on early allograft dysfunction (EAD) in liver transplant recipients were investigated.According to the culture results of donor liver preservation solution,the results were divided into positive group and negative group.Combined with the culture results of blood,sputum and drainage fluid after liver transplantation,the early infection rate of recipients in the two groups was observed.Results Univariate analysis showed that preoperative donor bilirubin total ＞17.1 mmol/L and donor cold ischemia time ＞8 h were risk factors for postoperative EAD in transplant recipients.Multivariate analysis showed that donor cold ischemia time ＞8 h was an independent risk factor for postoperative EAD in liver transplant recipients;the incidence of EAD in the group with cold ischemia time ＞8 h was significantly higher than that in the group with cold ischemia time ≤8 h (26.3％ vs.7.0％;P =0.003).The positive rate of postoperative sputum culture and drainage fluid culture in the donors with positive donor culture was 43.9％ and 48.8％,respectively,which was significantly higher than that in the negative group (10.7％ and 13.1％).The difference was statistically significant (P =0.000,P =0.000).The positive rate of postoperative blood culture in the positive group and the negative group was 12.2％ and 6.0％ with the difference being not statistically significant (P =0.161).Conclusion Cold ischemia time of the donor ＞8 h is an independent risk factor for EAD in recipients after liver transplantation.Shortening the cold ischemia time of donor liver can reduce the incidence of postoperative EAD in recipients.The culture results of preservation solution have a certain guiding effect on the postoperative anti-infective treatment of the recipients.
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Objective: To establish an HPLC method to determine the content of benzyl alcohol in metamizole sodium injection. Methods: The determination was performed on an Xtimate C18(250 mm×4. 6 mm,5 μm)column. Phosphate buffer (dissolving 6. 0 g sodium dihydrogen phosphate in 1000 ml water, adding 1ml triethylamine, adjusting pH to 7. 0 with sodium hydroxide solution) -methanol (75: 25) was used as the mobile phase at a flow rate of 1. 0 ml·min-1. The detection wavelength was 254 nm. The column tamprture was 30 ℃ and the sample size was 5 μl. Results: The linear range of benzyl alcohol was 76. 88-269. 08 μg·ml-1( r=0. 998 5)with the average recovery of 98. 77% (RSD=0. 77% ,n=9). Conclusion: The method is accurate and reproducible for the content determination of benzyl alcohol in metamizole sodium injection.
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Objective:To establish ion chromatography(IC) method for determination of the content of sodium glycerophosphate and phosphate salts in concentrated divitamins and sodium phosphate syrup. Methods:An AG19 -HC (50 mm× 4 mm) guard col-umn and an IonPac AS18 -HC (250 mm × 4 mm) ion analysis column were used, potassium hydroxide solution was applied as the mobile phase with gradient elution,and a conductance detector was used with suppression conductometric detection. Results:Sodium glycerophosphate and phosphate could be separated well under the chromatographic conditions. The linear range was 1.054-84.35 μg ·ml-1(r=0.999 4)for sodium glycerophosphate and 0.316 8-25.35 μg·ml-1(r=0.999 8)for phosphate. The average recovery was 99.35% (RSD=1.16%,n=9) and 98.96%(RSD=2.61%,n=9), respectively.Conclusion: The method is simple, rapid and accurate,and can be used for the quality control of concentrated divitamins and sodium phosphate syrup.
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To develop a method for the determination of residual solvents inα-ketophenylalanine calcium by capillary gas chromatography. Methods:The residual solvents were separated on a DB-624(30 m × 0. 32 mm, 0. 25 μm) capillary chromato-graphic column with temperature programming. The column temperature was maintained at 40℃ for 1 min,and then raised to 180℃at a rate of 10℃·min-1 and maintained for 2 min. N2 was used as the carrier gas, and FID was used as the detector with temperature of 250 ℃. The injector temperature was 200 ℃ and the split ratio was 10∶1, and direct injection was adopted. Methanol, ethanol, ethyl acetate and tetrahydrofuran in α-ketoleucine calcium were detected using an external standard method. Results:The four solvents were separated completely. There was a good linear relationship between the peak area and the concentration of each solvent ( r=0. 997 2-0. 999 5). The average recovery of the four solvents was 95. 47%-100. 26%(RSD≤4. 7%, n=9). Conclusion:The method is rap-id, simple, accurate and sensitive, and can be used in the determination of residual solvents in α-ketophenylalanine calcium.
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Sarcomas collectively represent over 100 different subtypes of bone and soft tissue tumors.They are not sensitive to chemotherapy,which requires the development of tissue-specific or pathway-specific therapies.As our understanding of the molecular mechanisms driving sarcomas is rapidly advancing,the number of targeted therapies is also increasing.Recently identified novel druggable targets including the MDM2 amplifications in welldifferentiated and dedifferentiated liposarcomas,the fusion NAB2:STAT6 of solitary fibrous tumor,the SDH mutations in gastrointestinal stro mal tumors,the suppression of Mcl1 in synovial sarcomas,CDK4 in alveolar rhabdomyosarcoma.They will play an important role in the treatment of sarcoma.Here,the author do an overview of these factors.