Objective To optimize the extraction, separation and purification process of Actinoside E. Methods Single factor experiment combined with orthogonal test was used to determine the optimal extraction process of Actinoside E using its content as an index. The extracts were separated and purified by optimizing the chromatographic conditions of macroporous resin, silica gel and ODS column. Results 25 times amount of 55% ethanol with heating reflux at 95℃ for one hour were used as the optimal extraction process of Actinoside E. The optimum separation and purification process was as follows: D101 macroporous resin column was eluted with 7 BV of 50% ethanol, silica gel column was eluted with 5 BV of ethyl acetate-ethanol（10∶1）and 50% methanol eluted fraction was purified repeatedly by ODS column to obtain Actinoside E. The transfer rate of Actinoside E in the whole process was 53.70%, the yield was 0.35%, and the purity was 99.9%. Conclusion The process is stable and viable, which can provide material foundation for the development and utilization of Actinoside E.

Hyperuricemia （HUA） is a common metabolic disorder characterized by persistently elevated serum uric acid levels, leading to uric acid-related renal injury through complex mechanisms involving inflammation, oxidative stress, and fibrosis. Key traditional Chinese medicine （TCM） formulas （e.g., Simiao Powder, Tongfengning） and individual herbal compounds （alkaloids, flavonoids, polysaccharides） with urate-lowering and renal protective properties were systematically summarized, including their mechanisms of regulating uric acid transporters （organic anion transporter 3, urate anion transporter 1, glucose transporter type 9）, inhibiting inflammatory responses （via NF-κB signaling）, reducing oxidative stress （via mitochondrial pathways and antioxidant enzyme enhancement）, and attenuating renal fibrosis （via PI3K/AKT signaling）. The challenges of current studies mainly focus on unclear mechanisms of action and insufficient clinical research. Future research may further explore TCM resources, clarify dual-action mechanisms of urate reduction and renal protection, and identify new therapeutic strategies for hyperuricemia-related renal injury.

Objective To investigate the material basis and mechanism of Danshen Baizhu prescription in coronary heart disease, vascular dementia and idiopathic membranous nephropathy based on network pharmacology. Methods TCMSP, PubChem, UniProt, GeneCards, OMIM, and DrugBank databases were used to obtain drug and disease targets, and the TCM-compound-drug target network, compound-common target-disease network, and protein-protein interaction map were drawn by STRING database and Cytoscape software, and gene enrichment analysis was performed by Metascape database. Results A total of 164 active compounds, 509 potential targets, and 141 common targets were screened out. The main active ingredients were Tanshinone II A, Isorhamnetin, Quercetin, Luteolin, Kampferol, β-sitosterol, Stigmasterol, etc. The key targets were albumin, interleukin 6, Tumor necrosis factor , serine/threonine kinase 1, vascular endothelial growth factor A , mainly enriching in the positive regulation of cell migration, cell viability, protein phosphorylation, responsing to growth factors, oxidative stress and other biological processes and lipid and atherosclerosis, MAPK, atherosclerosis and fluid shear force, AGE-RAGE, IL-17, PI3K-Akt and other signaling pathways. Conclusion The mechanism of action of Danshen Baizhu prescription for coronary heart disease, vascular dementia and idiopathic membranous nephropathy may mainly play a role in multiple targets and pathways such as inhibition of inflammation, inhibition of oxidative stress, and vasodilation.

The method of promoting blood circulation and removing blood stasis refers to the use of traditional Chinese medicine with a dispersing effect that can eliminate blood stasis in the body to treat the syndrome of blood stasis, which has the effects of unblocking blood vessels, dissipating stasis, regulating menstruation and relieving pain and are widely used for conditions such as chest tightness, heartache, dementia, menstrual disorders caused by blood stasis. Common medicines include Salvia miltiorrhiza Bunge, Panax notoginseng （Burkill）, Ligusticum chuanxiong Hort, Radix Curcumae, etc. Blood activating and stasis removing drugs generally have the effects of improving microcirculation, relaxing blood vessels, inhibiting thromboxane formation, and inhibiting platelet aggregation. They have good therapeutic effects on blood stasis syndrome in diseases such as coronary heart disease, angina pectoris, and vascular dementia. The research progress on traditional Chinese medicine and modern medicine on the treatment of vascular dementia with blood activating and stasis removing drugs were reviewed, in order to provide reference for the clinical application of blood activating and stasis removing methods in the treatment of vascular dementia.

Objective:To investigate the clinical phenotype and genetic characteristics of a family with Dentinogenesis imperfecta type Ⅰ(DGI-Ⅰ).Methods:Clinical data were collected from a patient with DGI-Ⅰ admitted to the Reproductive Medicine Department of the Affiliated Hospital of Jining Medical University in March 2024. Clinical and familial data were retrospectively collected. Peripheral blood samples (5 mL each) were obtained from the proband and her family members for genomic DNA extraction, followed by whole-exome sequencing (WES) and Sanger sequencing validation. The pathogenicity of the detected variants was assessed according to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ). The study was approved by the Ethics Committee of the Affiliated Hospital of Jining Medical University (Ethics No. 2024-08-C012), and written informed consent for clinical research were obtained from all participants.Results:The proband, a 35-year-old female, presented with translucent yellow primary teeth and progressive browning, darkening, and loss of permanent teeth, without skeletal abnormalities. Affected family members exhibited similar phenotypes. Genetic testing revealed a heterozygous COL1A2 variant (c.1503+ 1G>A) in the patient and other members, while unaffected family all members lacked this variant. Based on the ACMG Guidelines, this variant was classified as likely pathogenic(PM4 + PP1_Strong + PM2_Supporting). Conclusion:The COL1A2 c. 1503+ 1G>A heterozygous variant is the disease-causing mutation in this family. Above finding has expanded the mutational spectrum of the COL1A2 gene and provided a basis for genetic counseling and diagnosis in similar cases.

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a family with Dentinogenesis imperfecta type Ⅰ(DGI-Ⅰ). METHODS: Clinical data were collected from a patient with DGI-Ⅰ admitted to the Reproductive Medicine Department of the Affiliated Hospital of Jining Medical University in March 2024. Clinical and familial data were retrospectively collected. Peripheral blood samples (5 mL each) were obtained from the proband and her family members for genomic DNA extraction, followed by whole-exome sequencing (WES) and Sanger sequencing validation. The pathogenicity of the detected variants was assessed according to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"). The study was approved by the Ethics Committee of the Affiliated Hospital of Jining Medical University (Ethics No. 2024-08-C012), and written informed consent for clinical research were obtained from all participants. RESULTS: The proband, a 35-year-old female, presented with translucent yellow primary teeth and progressive browning, darkening, and loss of permanent teeth, without skeletal abnormalities. Affected family members exhibited similar phenotypes. Genetic testing revealed a heterozygous COL1A2 variant (c.1503+1G>A) in the patient and other affected members, while unaffected family members all lacked this variant. Based on the ACMG Guidelines, this variant was classified as likely pathogenic (PM4 + PP1_Strong + PM2_Supporting). CONCLUSION The COL1A2 c.1503+1G>A heterozygous variant is the disease-causing mutation in this family. Above finding has expanded the mutational spectrum of the COL1A2 gene and provided a basis for genetic counseling and diagnosis in similar cases.
Humans ; Female ; Dentinogenesis Imperfecta/genetics* ; Collagen Type I/genetics* ; Adult ; Pedigree ; Mutation ; Male ; Phenotype ; Exome Sequencing

Objective To investigate the effect of methane-rich saline on rat acne and its mechanism.Methods Totally 60 SD rats were randomly assigned to 4 groups(n=15):normal group,acne model group,tretinoin treatment group,or methane-rich saline treatment group.Acne models were established by applying oleic acid once a day and injecting Propionibacterium acnes every other day.No treatment was applied to the normal and acne model groups.The tretinoin treatment group received topical application of tretinoin cream on the affected areas,while the methane-rich saline treatment group was administered with methane-rich saline via oral gavage.Wet/dry weight ratio and histological staining were used to detect the rat ear edema and morphological changes.Terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling(TUNEL)was used to detect apoptosis,enzyme-linked immunosorbent assay(ELISA)was used to detect the expression of inflammatory factors(interleukin[IL]-6,IL-8,tumor necrosis factor α[TNF-α],and IL-37),and Western blotting was used to detect the protein expression of superoxide dismutase(SOD),nuclear factor κB(NF-κB),and cysteine aspartic acid specific protease 3(caspase 3).Results After the treatment with methane-rich saline,the edema and acne were alleviated in rat ears.There were significant improvements in glandular hyperplasia,inflammatory cell infiltration,vascular dilation,hair follicle enlargement,and keratinization for the rats in the methane-rich treatment group.The effect of methane-rich saline was similar to that of tretinoin.The treatment of methane-rich saline could significantly reduce the expression of inflammatory factors such as IL-6,IL-8,and TNF-α,while could significantly increase the expression of anti-inflammatory factor IL-37 and the rate of apoptosis(all P＜0.01).In addition,methane-rich saline treatment could upregulate the expression of SOD,caspase 3,and cleaved caspase 3,while could reduce the expression of NF-κB(all P＜0.01).Conclusion The administration of methane-rich saline has a good therapeutic effect on rat acne,and it may be related to its anti-inflammatory,antioxidant,and pro-apoptotic activities.

In the past decade, great progress has been made in the field of gynecological pathology in China, especially in the field of pathology of female reproductive tract tumors. Gynecological pathologists have not only made a lot of research work in pathological diagnosis and its clinical application, but also issued several expert consensus and guidelines, and edited and translated a number of monographs. All above efforts have made a positive contribution to improving the level of gynecological pathology nationwide.

Objective:To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features.Methods:Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People′s Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson′s trichrome, and reticulin staining. Semi-quantitative analysis of morphologic changes was performed. One case received DMD genetic testing, one received mtDNA variation testing for mitochondriopathy, and 1 received metagenomics next-generation sequencing. Clinical data and related literature were reviewed for comprehensive analysis.Results:There were 12 recipient hearts including 11 dilated cardiomyopathy (DCM) and 1 fulminant myocarditis (FM). The median age of DCM was 12 years (range, 3 to 15 years). DCM showed cardiomyocyte hypertrophy, cardiomyocyte disarray, nuclear morphological changes, interstitial fibrosis and fatty infiltration. One DCM was confirmed as Becker muscular dystrophy by DMD genetic testing. No pathogenic mutations were found in 1 patient that received mtDNA variation testing. H. influenzae was detected in the case of FM. FM showed diffuse and full-thickness inflammatory cell infiltration by large numbers of lymphocytes and plasma cells, scattered eosinophils, and few neutrophils.Conclusions:Cardiac transplantation is an excellent treatment for end-stage heart disease. The morphological features of DCM include cardiomyocyte hypertrophy, nuclear morphological changes, interstitial fibrosis and fatty infiltration. The severity of the lesion is influenced by multiple factors. FM predominantly presents diffuse infiltration of lymphocytes and plasma cells.

Objective To explore the influencing factors of immune-associated thyroid dysfunction caused by sintilimab treatment in solid tumors and construct a prediction model.Methods Medical records of patients diagnosed with solid tumors and treated with sintilimab at Peking University People's Hospital(Xizhimen Campus,Tongzhou Campus,Shijiazhuang Campus)from January 2023 to September 2024 were collected to explore the influencing factors that caused immune-related thyroid dysfunction using univariate and multifactorial binary logistic regression analyses and to establish a prediction model.The predictive effect of the model was assessed using the receiver operating characteristic(ROC)curve.Results A total of 120 patients were included,and 33 presented with immune-related thyroid dysfunction.Multifactorial logistic regression analysis revealed that thyroid-stimulating hormone(TSH)[OR=2.470,95%CI=(1.279,4.771)]and treatment cycles[OR=1.298,95%CI=(1.117,1.509)]were independent risk factors for the occurrence of immune-associated thyroid dysfunction,and the difference was statistically significant(P＜0.05).The area under the ROC curve was(0.897±0.043)[95%CI=(0.813,0.981)],the Yoden index was 0.703,and the model prediction accuracy was 86.5%.Conclusion The risk of immune-related thyroid dysfunction caused by sintilimab is high,and TSH and treatment cycle are the influencing factors,and the constructed model has certain predictive value and is of reference significance.