Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Background: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.

Clinical effect of alfacalcidol in children with Henoch-Schönlein purpura: a prospective randomized controlled trial. / é˜¿æ³•éª¨åŒ–é†‡æ²»ç–—å„¿ç«¥è¿‡æ•æ€§ç´«ç™œçš„å‰çž»æ€§éšæœºå¯¹ç §ç ”ç©¶.

OBJECTIVES: To study the effects of alfacalcidol on serum 25-(OH)D3 level, cellular immune function, and inflammatory factors in children with Henoch-Schönlein purpura (HSP). METHODS: A total of 200 children with HSP were prospectively enrolled from June 2018 to June 2020. According to the random number table method, they were divided into an observation group and a control group (n=100 each). The control group was treated with vitamin C, rutin tablets, dipyridamole, cimetidine, calcium supplements, and glucocorticoids. In addition to the treatment for the control group, the observation group received alfacalcidol capsules (0.25 µg/d) orally before bed for 4 weeks. The two groups were compared in terms of the level of 25-(OH)D3, the percentages of T lymphocyte subsets (CD3+, CD4+, and CD8+) and NK cells, and the levels of inflammatory factors, interleukin-6 (IL-6), interleukin-17 (IL-17), interleukin-21 (IL-21), and tumor necrosis factor-α (TNF-α), before treatment and after 4 weeks of treatment. The children were followed up for 6 months to determine the recurrence rate and the incidence of renal damage. RESULTS: After treatment, the observation group showed a significantly higher serum 25-(OH)D3 level, significantly higher percentages of CD3+T cells, CD4+T cells, and NK cells, and significantly lower levels of IL-6, IL-17, IL-21, and TNF-α compared with the control group (P<0.05). After 6 months of follow-up, the recurrence rate and the incidence of renal damage in the observation group were significantly lower than those in the control group (P<0.05). CONCLUSIONS: Alfacalcidol can increase the serum 25-(OH)D3 level, improve cellular immune function, decrease inflammatory factor levels, and reduce recurrence and renal damage in children with HSP.

Preparation and luminescence properties of Tb3+ -doped garnet Y2 Mg2 Al2 Si2 O12 luminescent materials.

We prepared Y2 Mg2 Al2 Si2 O12 :xTb3+ (x = 0.02, 0.04, 0.06, 0.08, 0.10, 0.12, 0.14 and 0.16) luminescent materials using a nodulizing procedure. The phase and luminescence properties of these materials were investigated. X-ray diffraction results demonstrated that Tb3+ ions doped into Y2 Mg2 Al2 Si2 O12 hosts successfully and the Y2 Mg2 Al2 Si2 O12 :xTb3+ materials showed a pure cubic phase. Y2 Mg2 Al2 Si2 O12 :xTb3+ materials had the characteristic Tb3+ emission bands derived from 5 D4 →7 F6 , 7 F5 , 7 F4 , and 7 F3 transitions when excited at 365 nm. The green emission band that derived from the 5 D4 →7 F5 transition was highest due to the high possibility of both electric-dipole and magnetic-dipole transitions. Emission spectra indicated that the critical concentration of Tb3+ in the Y2 Mg2 Al2 Si2 O12 host was 0.14. The concentration quenching of Y2 Mg2 Al2 Si2 O12 :Tb3+ was derived from a dipole-dipole interaction.

Study on miRNAs in Pan-Cancer of the Digestive Tract Based on the Illumina HiSeq System Data Sequencing.

OBJECTIVE: miRNA has gained attention as a therapeutic target in various malignancies. The proposal of this study was to investigate the biological functions of key miRNAs and target genes in cancers of the digestive tract which include esophageal carcinoma (ESCA), gastric adenocarcinoma (GAC), colon adenocarcinoma (COAD), and rectal adenocarcinoma (READ). MATERIALS AND METHODS: After screening differentially expressed miRNAs (DEMIs) and differentially expressed mRNAs (DEMs) in four digestive cancers from The Cancer Genome Atlas (TCGA) database, the diagnostic value of above DEMIs was evaluated by receiver-operating characteristic (ROC) curve analysis. Then, corresponding DEMIs' target genes were predicted by miRWalk 2.0. Intersection of predicted target genes and DEMs was taken as the target genes of DEMIs, and miRNA-mRNA regulatory networks between DEMIs and target genes were constructed. Meanwhile, the univariate Cox risk regression model was used to screen miRNAs with distinct prognostic value, and Kaplan-Meier analysis was used to determine their significance of prognosis. Furthermore, we performed bioinformatics methods including protein-protein interaction (PPI) networks, gene ontology (GO) annotation, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, and gene group RIDA analysis by Gene-Cloud of Biotechnology Information (GCBI) to explore the function and molecular mechanisms of DEMIs and predicted target genes in tumor development. RESULTS: Eventually, 3 DEMIs (miR-7-3, miR-328, and miR-323a) with significant prognostic value were obtained. In addition, 3 DEMIs (miR-490-3p, miR-133a-3p, and miR-552-3p) and 281 target genes were identified, and the 3 DEMIs showed high diagnostic value in READ and moderate diagnostic value in ESCA, GAC, and COAD. Also, the miRNA-mRNA regulatory network with 3 DEMIs and 281 overlapping genes was successfully established. Functional enrichment analysis showed that 281 overlapping genes were mainly related to regulation of cell proliferation, cell migration, and PI3K-Akt signaling pathway. CONCLUSION: The diagnostic value and prognostic value of significant DEMIs in cancers of the digestive tract were identified, which may provide a novel direction for treatment and prognosis improvement of cancers of the digestive tract.

Ethnopharmacology, phytochemistry, and pharmacology of Sterculia lychnophora Hance (Pangdahai) / 中国天然药物

The matured, ripen, and dried seeds of Scaphium affine (Mast.) Pierre, known as Pangdahai (PDH) in Chinese and recorded as Sterculia lychnophora Hance (scientific synonym) in the 2015 edition of the Chinese Pharmacopeia, have been widely used in traditional Chinese medicine, Japanese folk medicine, Vietnamese traditional medicine, traditional Thai medicine and Indian traditional medicine. The decoctions of the seeds are used as a remedy for pharyngitis, laryngitis, constipation, cough, menorrhagia, and pain management. This review is aimed at fully collating and presenting a systematic and comprehensive overview of the ethnopharmacological uses of PDH, its phytochemical constituents, pharmacological activities, and toxicological profile. Additionally, this review aims to reveal the therapeutic potentials as well as the important scientific gaps in the research of this traditional medicine that need to be filled so as to provide a comprehensive data for its development, utilization and application. From our extensive review of literatures, the teas (water decoctions) of PDH, which largely contain very polar constituents like polysaccharides, are used in the treatment of constipation, pharyngitis, and pain traditionally and ethno-medicinally and their use have been justified by pharmacological studies carried out on the polysaccharides and aqueous extracts. Additionally, this review has revealed that the organic (ethanolic and methanolic) extracts of PDH possess diverse pharmacological (anti-inflammatory, anti-ulcer, anti-pyretic, anti-microbial, anti-obesity and analgesic) effects, yet have received little attention. Most studies on PDH have been focused on the polysaccharides (large molecular weight metabolites), resulting in a major scientific gap in our knowledge on PDH. Furthermore, this review has also shown that few studies have been done in the areas of quality control, pharmacokinetics, and toxicological studies of PDH.

Ethnopharmacology, phytochemistry, and pharmacology of Sterculia lychnophora Hance (Pangdahai) / 中国天然药物

The matured, ripen, and dried seeds of Scaphium affine (Mast.) Pierre, known as Pangdahai (PDH) in Chinese and recorded as Sterculia lychnophora Hance (scientific synonym) in the 2015 edition of the Chinese Pharmacopeia, have been widely used in traditional Chinese medicine, Japanese folk medicine, Vietnamese traditional medicine, traditional Thai medicine and Indian traditional medicine. The decoctions of the seeds are used as a remedy for pharyngitis, laryngitis, constipation, cough, menorrhagia, and pain management. This review is aimed at fully collating and presenting a systematic and comprehensive overview of the ethnopharmacological uses of PDH, its phytochemical constituents, pharmacological activities, and toxicological profile. Additionally, this review aims to reveal the therapeutic potentials as well as the important scientific gaps in the research of this traditional medicine that need to be filled so as to provide a comprehensive data for its development, utilization and application. From our extensive review of literatures, the teas (water decoctions) of PDH, which largely contain very polar constituents like polysaccharides, are used in the treatment of constipation, pharyngitis, and pain traditionally and ethno-medicinally and their use have been justified by pharmacological studies carried out on the polysaccharides and aqueous extracts. Additionally, this review has revealed that the organic (ethanolic and methanolic) extracts of PDH possess diverse pharmacological (anti-inflammatory, anti-ulcer, anti-pyretic, anti-microbial, anti-obesity and analgesic) effects, yet have received little attention. Most studies on PDH have been focused on the polysaccharides (large molecular weight metabolites), resulting in a major scientific gap in our knowledge on PDH. Furthermore, this review has also shown that few studies have been done in the areas of quality control, pharmacokinetics, and toxicological studies of PDH.

Chemical constituents in Toddalia asiatica Lam.: Research advances / 国际药学研究杂志

Radix Toddaliae asiaticae, belonging to Rutaceae family and Toddalia genus, is a folk traditional medicine in China. Chemical constituents isolated from this plant include coumarins, alkaloids, triterpenes, flavonoids, phenolic acids, lignanoids, steroids and fatty acid, etc. Quantitative analyses focus on total lactones, total flavonoids, total alkaloids and isolated compounds of coumarins and alkaloids. In this paper, chemical constituents and quantitative analyses are reviewed, which can provide references for further research.

Pharamacological action in Toddalia asiatica Lam.: Research advances / 国际药学研究杂志

Radix Toddaliae asiaticae which belongs to Toddalia genus of Rutaceae family is a folk medicine in China. Modern pharmacological studies have shown its anti-inflammatory, analgesic, antioxidative, antibacterial, antifungal, cardiovascular prot tive, antitumor activities and so on. The review systematically summarizes pharmacological effects, which can provide references reasonable utilization.

Research progress in study on chemical constituents and pharmacological effects of Viticis Fructus / 中草药

Viticis Fructus is a traditional Chinese materia medica with wind-heat-dispersing action and its original plant recorded in Chinese Pharmacopoeia is Vitex trifolia var. simplicifolia or V. trifolia. Chemical investigation indicated that the two plants contained terpenes, flavonoids, anthraquinones, lignanoids, phenolic acids, and other ingredients. Modern pharmacological studies had shown the anti-inflammatory, anti-oxidative, antipyretic-analgesic, histamine release inhibiting, antitumor activities, and so on. In this paper, the chemical constituents and pharmacological effects are reviewed, which can provide the references for further study on V. trifolia.

Isoflavonoids from Caragana changduensis and their nitric oxideinhibitory activities / 中国中药杂志

Ten isoflavonoids were isolated from the heartwoods of Caragana changduensis Lion f. by means of various column chromatographic techniques. Based on the detailed spectral data analysis (MS and NMR), as well as comparison with the literatures, their chemical structures were determined as 7,2'-dihydroxy-8,4'-dimethoxyisoflavone (1), 4'-hydroxy-7,3'-dimethoxyisoflavone (2), 5, 7, 4'-trihydroxy-2',5'-dimethoxyisoflavone (3), prunetin (4), afrormosin (5), odoratin (6), genistein (7), texasin (8), pratensein (9), and 6,7,3'-trihydroxy-4'-methoxyisoflavone (10). Among them, compounds 1-3 and 9-10 were isolated from the Caragana genus for the first time. All the compounds were obtained from this species for the first time. In the preliminary assays, compounds 1, 2, 6, and 7 possessed significant inhibitory effects on NO production, with IC50 values of 48.12, 25.32, 62.71, 43.59 μmol x L(-1), respectively.