1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Development of core outcome set for traditional Chinese medicine interventions in diabetic peripheral neuropathy.
Lu-Jie WANG ; Liang-Zhen YOU ; Chang CHANG ; Yu-Meng GENG ; Jin-Dong ZHAO ; Zhao-Hui FANG ; Ai-Juan JIANG
China Journal of Chinese Materia Medica 2025;50(14):4071-4080
This study developed a core outcome set(COS) for traditional Chinese medicine(TCM) interventions in diabetic peripheral neuropathy(DPN), standardizing evaluation metrics for TCM efficacy and providing a new framework for DPN treatment and management. A systematic search was conducted across databases, including CNKI, Wanfang, and PubMed, targeting clinical trial literature published between January 1, 2013, and January 1, 2023. The search focused on extracting outcome indicators and measurement tools used in TCM treatments for DPN. Retrospective data collection was performed from January 2018 to June 2023, involving 200 DPN patients hospitalized at the Department of Endocrinology of the First Affiliated Hospital of Anhui University of Chinese Medicine. Additionally, semi-structured interviews were conducted with inpatients, outpatients, their families, and nursing staff to further refine and enhance the list of outcome indicators. After two rounds of Delphi questionnaire survey and consensus meeting, a consensus was reached. The study initially retrieved 3 421 publications, of which 170 met the inclusion criteria after review. These publications, combined with retrospective analysis and semi-structured interviews, supplemented the list of indicators. After two rounds of Delphi surveys, experts agreed on 24 indicators and 6 measurement tools. The final COS determined by expert consensus meeting included 5 domains and 13 outcome indicators: neurological function signs, quality of life, TCM syndrome score, nerve conduction velocity, current perception threshold test, fasting blood glucose, 2 h postprandial blood glucose, glycated hemoglobin, complete blood count, urinalysis, liver function test, kidney function test, and electrocardiogram.
Humans
;
Diabetic Neuropathies/drug therapy*
;
Medicine, Chinese Traditional/methods*
;
Drugs, Chinese Herbal/therapeutic use*
;
Retrospective Studies
;
Treatment Outcome
;
Male
;
Female
3.Bone loss in patients with spinal cord injury: Incidence and influencing factors.
Min JIANG ; Jun-Wei ZHANG ; He-Hu TANG ; Yu-Fei MENG ; Zhen-Rong ZHANG ; Fang-Yong WANG ; Jin-Zhu BAI ; Shu-Jia LIU ; Zhen LYU ; Shi-Zheng CHEN ; Jie-Sheng LIU ; Jia-Xin FU
Chinese Journal of Traumatology 2025;28(6):477-484
PURPOSE:
To investigate the incidence and influencing factors of bone loss in patients with spinal cord injury (SCI).
METHODS:
A retrospective case-control study was conducted. Patients with SCI in our hospital from January 2019 to March 2023 were collected. According to the correlation between bone mineral density (BMD) at different sites, the patients were divided into the lumbar spine group and the hip joint group. According to the BMD value, the patients were divided into the normal bone mass group (t > -1.0 standard deviation) and the osteopenia group (t ≤ -1.0 standard deviation). The influencing factors accumulated as follows: gender, age, height, weight, cause of injury, injury segment, injury degree, time after injury, start time of rehabilitation, motor score, sensory score, spasticity, serum value of alkaline phosphatase, calcium, and phosphorus. The trend chart was drawn and the influencing factors were analyzed. SPSS 26.0 was used for statistical analysis. Correlation analysis was used to test the correlation between the BMD values of the lumbar spine and bilateral hips. Binary logistic regression analysis was used to explore the influencing factors of osteoporosis after SCI. p < 0.05 was considered statistically significant.
RESULTS:
The incidence of bone loss in patients with SCI was 66.3%. There was a low concordance between bone loss in the lumbar spine and the hip, and the hip was particularly susceptible to bone loss after SCI, with an upward trend in incidence (36% - 82%). In this study, patients with SCI were divided into the lumbar spine group (n = 100) and the hip group (n = 185) according to the BMD values of different sites. Then, the lumbar spine group was divided into the normal bone mass group (n = 53) and the osteopenia group (n = 47); the hip joint group was divided into the normal bone mass group (n = 83) and the osteopenia group (n = 102). Of these, lumbar bone loss after SCI is correlated with gender and weight (p = 0.032 and < 0.001, respectively), and hip bone loss is correlated with gender, height, weight, and time since injury (p < 0.001, p = 0.015, 0.009, and 0.012, respectively).
CONCLUSIONS
The incidence of bone loss after SCI was high, especially in the hip. The incidence and influencing factors of bone loss in the lumbar spine and hip were different. Patients with SCI who are male, low height, lightweight, and long time after injury were more likely to have bone loss.
Humans
;
Spinal Cord Injuries/complications*
;
Male
;
Female
;
Retrospective Studies
;
Incidence
;
Adult
;
Bone Density
;
Middle Aged
;
Case-Control Studies
;
Osteoporosis/etiology*
;
Lumbar Vertebrae
;
Bone Diseases, Metabolic/etiology*
;
Aged
;
Risk Factors
4.Effects of Focused Solution Model Nursing on quality of life and negative emotions of prostate cancer patients.
Lei YU ; Ting-Ling ZHANG ; Wen-Fang CHEN ; Xiu-Qin YE ; Jie LIU ; Qian MENG ; Ying-Chun HUANG ; Song XU
National Journal of Andrology 2025;31(8):723-727
OBJECTIVE:
To analyze the effects of the Focused Solution Model Nursing intervention on quality of life, negative emotions of the patients with prostate cancer. Methods: A total of 82 prostate cancer patients who were diagnosed and treated at the General Hospital of Eastern Theater Command between September 2022 and September 2024 were included and randomly divided into study group and control group by the method of random number table, with 41 patients in each group. The patients in the study group were treated with Focused Solution Model Nursing intervention. And the routine care was used in the control group The quality of life and negative emotions were compared between the two groups by using the scales of World Health Organization Quality of Life-Brief (WHOQOL-BREF), HAMA and HAMD.
RESULTS:
Compared to the control group, the patients in the study group exhibited significantly higher scores in the physiological, psychological, environmental, and social relationship domains of the WHOQOL-BREF scale (P<0.05). The scores of HAMA and HAMD in study group were lower than those of the control group (P<0.05). Additionally, all subscales of the Social Impact Scale including social exclusion, internalized shame, social isolation and economic discrimination were significantly lower than those of the study group (P<0.05).
CONCLUSION
Focused Solution Model Nursing intervention can effectively improve the quality of life and negative emotions of the prostate cancer patients in the clinical treatment.
Humans
;
Male
;
Quality of Life
;
Prostatic Neoplasms/nursing*
;
Emotions
;
Surveys and Questionnaires
;
Middle Aged
5.Sinisan, a compound Chinese herbal medicine, alleviates acute colitis by facilitating colonic secretory cell lineage commitment and mucin production.
Ya-Jie CAI ; Jian-Hang LAN ; Shuo LI ; Yue-Ning FENG ; Fang-Hong LI ; Meng-Yu GUO ; Run-Ping LIU
Journal of Integrative Medicine 2025;23(4):429-444
OBJECTIVE:
Ulcerative colitis is closely associated with intestinal stem cell (ISC) loss and impaired intestinal mucus barrier. Sinisan (SNS), a compound Chinese herbal medicine, has a long history in the treatment of intestinal dysfunction, yet whether SNS can relieve acute experimental colitis by modulating ISC proliferation and secretory cell differentiation has not been studied. Our study tested the effect of SNS against acute colitis and focused on the mechanisms involving intestinal barrier recovery.
METHODS:
Network pharmacology analysis and blood entry component analysis of SNS were used to explore the underlying mechanism by which SNS affects the acute dextran sulfate sodium (DSS)-induced murine colitis model. RNA-sequencing was used to demonstrate the mechanism. Further, reverse transcription-quantitative polymerase chain reaction, immunofluorescence staining, and alcian blue and periodic acid-Schiff staining were performed in vivo and in the colonic organoids to investigate the cell lineage differentiation-related mechanism of SNS. Furthermore, potential active ingredients from SNS were predicted by network pharmacology analysis.
RESULTS:
SNS dramatically suppressed DSS-induced acute colonic inflammation in mice. RNA-sequencing analysis revealed downregulation of inflammation and apoptosis-related genes, and upregulation of lipid metabolism and proliferation-related genes, such as Irf7, Pparα, Clspn and Hspa5. Additionally, ISC renewal and intestinal secretory cell lineage commitment were significantly promoted by SNS both in vivo and in vitro in colonic organoids, leading to enhanced mucin expression. Furthermore, potential active ingredients from SNS that mediated inflammation, lipid metabolism, proliferation, apoptosis, stem cells and secretory cells were predicted using a network pharmacology approach.
CONCLUSION
Our study shed light on the underlying mechanism of SNS in attenuating acute colitis from the perspective of ISC renewal and secretory lineage cell differentiation, suggesting a of novel therapeutic strategy against colitis. Please cite this article as: Cai YJ, Lan JH, Li S, Feng YN, Li FH, Guo MY, et al. Sinisan, a compound Chinese herbal medicine, alleviates acute colitis by facilitating colonic secretory cell lineage commitment and mucin production. J Integr Med. 2025; 23(4): 429-444.
Animals
;
Drugs, Chinese Herbal/therapeutic use*
;
Mice
;
Colon/pathology*
;
Mucins/metabolism*
;
Mice, Inbred C57BL
;
Cell Differentiation/drug effects*
;
Male
;
Colitis/metabolism*
;
Cell Lineage/drug effects*
;
Dextran Sulfate
;
Stem Cells/drug effects*
;
Disease Models, Animal
6.Quantitative Evaluation of Influences of Material Properties on Latent Fingerprint Development Effects
Jie LI ; Ming LI ; Rong-Wei MA ; Zhi-Ze XU ; Chuan-Hao FANG ; Meng WANG
Chinese Journal of Analytical Chemistry 2025;53(8):1279-1289,中插4-中插18
The influence of material properties on fingerprint development effects were systematically studied.Firstly,carbon dots/NaYF4 and Cu nanoclusters/starch nanocomposites respectively possessing different fluorescent intensities and dual fluorescent colors,as well as NaYF4 micro-/nano-materials exhibiting different morphologies,sizes,and surface properties were chemically synthesized and further used for latent fingerprint development.Then,the developing effects were comprehensively evaluated by visual analysis combining with spectral characterization and Python-based calculation.Finally,the influences of material properties on latent fingerprint development were quantitatively evaluated from three dimensions including contrast,sensitivity,and selectivity.The fluorescence properties of developing materials and substrates could significantly affect the developing contrast,namely,the stronger the developing signal,the higher the contrast;the weaker the background noise,the higher the contrast.The sizes and morphologies of the developing materials could respectively influence the quantity and quality of developed minutiae,and significantly affect the developing sensitivity,namely,the smaller the particle size of developing materials,the more the quantity of developed minutiae and the higher the sensitivity;the smaller the surface area of developing materials,the higher the quality of developed minutiae and the higher the sensitivity.The surface properties together with the sizes and morphologies of developing materials could influence their adsorption performances,and significantly affect the developing selectivity,namely,the stronger the specific adsorption of developing materials with fingerprint substance,and the weaker the non-specific adsorption of developing materials with substrate,the higher the selectivity.Moreover,the fingerprint development using the materials with suitable surface area and appropriate mass would have a high selectivity.
7.Mechanism of senegenin in improving lipopolysacchride-induced inflammatory response of BV2 microglial cell
Bing-Tao MU ; Min-Fang GUO ; Jing-Wen YU ; Jia-Lei CAO ; Feng-Jun YANG ; Si-Wei JIA ; Qing SU ; Tao MENG ; Cun-Gen MA ; Jie-Zhong YU ; Li-Juan SONG
Medical Journal of Chinese People's Liberation Army 2025;50(2):188-196
Objective To investigate the mechanism by which Senegenin(SEN)alleviates microglial inflammatory response through the nuclear factor erythroid 2-related factor 2(Nrf2)/NOD-like receptor protein 3(NLRP3)pathway.Methods BV2 mouse microglia cells were randomly divided into control group,model group,SEN group and MCC950 group.Cells in control group were not treated,and cells in model group were added with 1 μg/ml lipopolysaccharide(LPS);Cells in SEN group were added with 1 μg/ml LPS+4 μmol/L SEN,and cells in MCC950 group were added with 1 μg/ml LPS+10 μmol/L MCC950 for 24 hours.CCK-8 method was used to detect the effect of different concentrations of SEN on the viability of BV2 cells.Griess method was used to determine the release amount of nitric oxide(NO)in the supernatant.Real-time fluorescent quantitative PCR was used to determine the mRNA expression levels of NLRP3,lymphocyte apoptosis-associated spect-like protein containing a CARD(ASC),caspase-1,interleukin(IL)-1β and IL-18 mRNA.Immunofluorescence staining was used to detect the expression levels of ASC,IL-1β,Nrf2 and heme oxygenase-1(HO-1).Western blotting was used to detect the expression levels of NLRP3,caspase-1,ASC,IL-1β,IL-18,Nrf2,HO-1,nuclear factor kappa B(NF-κB)and inducible nitric oxide synthase(iNOS).Results The results of CCK-8 method showed that there was no significant difference in the viability of BV2 cells treated with 2~20 μmol/L SEN compared with control group(P>0.05).Compared with control group,the viability of BV2 cells in model group decreased significantly(P<0.05).Compared with model group,the viability of BV2 cells in 4 μmol/L SEN group was significantly restored(P<0.05).Compared with control group,the results of Griess method showed that the release amount of NO in cells of model group increased significantly(P<0.05);the results of real-time PCR showed that the expression levels of NLRP3,ASC,caspase-1,IL-1β and IL-18 mRNA in cells of model group increased significantly(P<0.05);the results of Western blotting showed that the protein expression levels of NLRP3,ASC,caspase-1,IL-1β and IL-18 proteins in cells of model group increased significantly(P<0.05),and the immunofluorescence staining results showed that the expression levels of iNOS and NF-κB protein in cells of model group increased,and the expression levels of Nrf2 and HO-1 decreased,with statistically significant differences(P<0.05).Compared with model group,the release amount of NO in cells of SEN group and MCC950 group decreased,and the expression levels of NLRP3,ASC,caspase-1,IL-1β and IL-18 mRNA and proteins decreased,with statistically significant differences(P<0.05);in the SEN group,the expression levels of iNOS and NF-κB decreased,and immunofluorescence staining showed that Nrf2 was translocated into the nucleus,and the expression levels of Nrf2 and HO-1 proteins increased significantly,with statistically significant differences(P<0.05).Conclusions SEN could alleviate the inflammatory response of mouse microglia cells induced by LPS and inhibit the activation and expression of NLRP3 inflammasome,with an effect comparable to that of the inflammasome inhibitor MCC950.The mechanism may be related to the regulation of the expression of upstream factors Nrf2 and HO-1.
8.Method of differentiation of human induced pluripotent stem cells into high purity dopaminergic neurons in vitro
Jie-Yi MENG ; Xuan FANG ; Man LI ; Wei-Guang ZHANG ; Chun-Hua CHEN
Acta Anatomica Sinica 2025;56(3):351-356
Objective To explore an experimental protocol for differentiating human-induced pluripotent stem cells(iPSCs)into highly pure midbrain dopaminergic(DA)neurons.Methods By optimizing a blend of small molecules and recombinant human growth factors,iPSCs were induced to differentiate into ventral midbrain floor plate DA progenitor cells and subsequently into mature substantia nigra pars compacta DA neurons.Throughout the differentiation process,Real-time PCR and immunofluorescent staining were utilized as a method for quality assessment.Results iPSCs firstly differentiate into dopaminergic precursor cells,and then gradually differentiate into DA neurons expressing tyrosine hydroxylase(TH).Conclusion The protocol successfully yields approximately high purity tyrosine hydroxylase-positive(TH+)DA neurons.This differentiation technique offers an effective cellular model for studying the physiological mechanisms and pathogenesis of Parkinson's disease,providing valuable insights for future research and potential therapeutic strategies.
9.Analysis of Clinical Features of 13 Cases with Late-Onset Pompe Disease
Fang JI ; Fangping HE ; Yi LI ; Jie NI ; Lihua YU ; Fanxia MENG ; Haiyan CHEN ; Qing KE
JOURNAL OF RARE DISEASES 2024;3(3):318-325
Objective To investigate the clinical features and genetic characteristics of patients with late-onset Pompe disease(LOPD).Methods A total of 13 patients diagnosed with LOPD in the First Affilia-ted Hospital of Zhejiang University School of Medicine from September 2020 to December 2023 were selected,and all patients were subjected to clinical investigation,GAA activity detection and GAA gene testing.Results Among the 13 patients,7 were males and 6 were females;5 were family patients and 8 were sporadic patients;and the median age of onset was 17 years(8-52 years),the median age of presentation was 24 years(10-52 years),and the median age of diagnosis was 31 years(14-58 years).In terms of the first symptoms,10 pa-tients presented with limb weakness and 3 patients presented with dyspnea.The average serum creatine kinase level was 552 U/L(55-1084 U/L),and the serum creatine kinase level was normal in one patient.All pa-tients had scoliosis and different degrees of restrictive ventilatory dysfunction.Neuroelectrophysiological exami-nations of 9 patients showed myogenic damage,and 8 of them had muscle tonic discharge.The mean value of GAA activity was 0.3 μmol/(L·h)[0.17-0.5 μmol/(L·h)].A total of 13 mutations were detected in GAA gene,and the most common mutation was c.2238G>C(p.W746C).There were five new variant sites:c.543del(p.F181Lfs*40),c.839_840insCC(p.R281Pfs*34),c.1800_1823del(p.S601_R608del),c.2296T>C(p.Y766H)and c.995C>A(p.S332*).Conclusions LOPD is a rare disease that tends to delay diagnosis.Proximal limb weakness,decreased respiratory function,mild-to-moderate elevation of creatine kinase,scoliosis,and clinical inferior tonic discharge on electromyography are high-risk images of LOPD.c.2238G>C(p.W746C)is a hotspot mutation,and the discovery of five new mutations enriches the GAA gene mutations lineage.
10.TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Hai-Yang ZHANG ; Feng-Yao WU ; Xue-Song LI ; Ping-Hui TU ; Cao-Xu ZHANG ; Rui-Meng YANG ; Ren-Jie CUI ; Chen-Yang WU ; Ya FANG ; Liu YANG ; Huai-Dong SONG ; Shuang-Xia ZHAO
Annals of Laboratory Medicine 2024;44(4):343-353
Background:
Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes.
Methods:
In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity.
Results:
Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants.
Conclusions
We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.

Result Analysis
Print
Save
E-mail