1.Clinical effect of functional genomic analysis combined with individualized drug selection in treatment of autosomal dominant polycystic kidney disease with congenital hepatic fibrosis: A case report
Kaidi ZHU ; Jianzeng ZHANG ; Hongyi LI ; Mengqi YUAN ; Ziying ZHANG ; Zhe XU ; Hongling LIU ; Fusheng WANG ; Xuechun LU ; Lei SHI
Journal of Clinical Hepatology 2026;42(7):1670-1676
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic hereditary renal disorder and can affect multiple organs, and congenital hepatic fibrosis is one of the manifestations of liver involvement and is an important complication of ADPKD. Symptomatic management is currently the main treatment method for this disease, and disease-specific drugs such as tolvaptan have limited indications and cannot correct the underlying genetic defect. This article reports a case of ADPKD with congenital hepatic fibrosis, and sirolimus was identified as the individualized treatment regimen based on peripheral blood functional genomic analysis and drug sensitivity prediction platform. The patient achieved significant improvements in symptoms and quality of life after treatment, with a stable kidney volume. This case shows that functional genomics has a potential value in guiding individualized treatment of rare genetic disorders, which provides new treatment ideas and practice paths for similar patients.
2.Effect of Epimedium brevicornu Ethanol Extract on Aging of Castrated Rats by Intervening in Mesenchymal Adipose-derived Stem Cells
Zuyu MENG ; Haiquan LIU ; Shaozi LIN ; Mei WANG ; Yiyao ZHANG ; Fang LIU ; Menghan LI ; Hongling CHEN ; Jiajia QIN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):174-181
ObjectiveTo explore the mechanism by which the ethanol extract of Epimedium brevicornu (EEBM) intervenes in mesenchymal adipose-derived stem cells (ADSCs) to delay aging in castrated rats. MethodsForty-five 3-month-old SPF female SD rats were ovariectomized and randomly divided into model group, ADSCs treatment group, and ADSCs groups treated with low, medium, and high concentrations of EEBM (1, 50, 100 μg·L-1), referred to as the AE low, medium, and high concentration groups, with 9 rats in each group. After tail vein injection of 200 μL of the corresponding stem cell suspension, aging-related indicators including cyclin-dependent kinase inhibitor (p21), tumor suppressor gene (p53), interleukin-6 (IL-6), interleukin-8 (IL-8), superoxide dismutase (SOD), malondialdehyde (MDA), B-cell lymphoma-2 (Bcl-2), Bcl-2-associated X protein (Bax), cysteine-aspartic acid protease-3 (Caspase-3), and lipofuscin were measured using enzyme-linked immunosorbent assay (ELISA) and Western blot. ResultsCompared with the model group, the IL-6 content in the AE low, medium, and high concentration groups was significantly decreased (P<0.05). Lipofuscin, MDA, and IL-8 levels in the ADSCs treatment group and AE low, medium, and high concentration groups were significantly reduced (P<0.01), while SOD content was significantly increased (P<0.05, P<0.01). Compared with the ADSCs treatment group, lipofuscin and IL-8 levels in the AE low, medium, and high concentration groups were significantly reduced (P<0.05, P<0.01). The MDA content was significantly decreased in the AE medium concentration group (P<0.01). Compared with the model group, protein levels of p21, p53, Bax, and Caspase-3 in the ADSCs treatment group and AE low, medium, and high concentration groups were significantly reduced (P<0.05, P<0.01), while the Bcl-2 protein level was significantly increased (P<0.01). Compared with the ADSCs treatment group, protein levels of p21, p53, Bax, and Caspase-3 in the AE low, medium, and high concentration groups were significantly reduced (P<0.05, P<0.01), and the Bcl-2 protein level in the AE low concentration group was significantly increased (P<0.01). ConclusionThe results of this experiment show that EEBM-treated ADSCs or ADSCs may delay aging in castrated rats by inhibiting cell apoptosis, reducing cell cycle inhibitors and pro-inflammatory factors, enhancing antioxidant capacity, and reducing oxidative reactions. Moreover, EEBM-treated ADSCs demonstrate stronger anti-aging effects than ADSCs alone. This study provides experimental evidence supporting the clinical use of EEBM to intervene in ADSCs and delay aging.
3.Cerebral autoregulation in cerebral small vessel disease
Furong LI ; Ya'nan ZHANG ; Shuhan LIU ; Weiwei DONG ; Xiaowen SUI ; Xin PAN ; Hongling ZHAO
International Journal of Cerebrovascular Diseases 2025;33(5):383-386
Cerebral blood flow directly affects the metabolism of substances and neural activity in the brain, and is closely associated with the occurrence and development of cerebral small vessel disease (CSVD). Multiple studies have revealed that various imaging biomarkers in patients with CSVD, such as lacunar infarction, enlarged perivascular spaces, cerebral microbleeds, cerebral atrophy, and white matter hyperintensities, are closely associated with cerebral autoregulation (CA) function. Therefore, understanding the regulatory mechanism of CA in patients with CSVD is of great significance for delaying the further development of CSVD, improving cerebral ischemia and cognitive impairment. This article reviews the correlation and mechanism between CA and CSVD.
4.Mechanism of astaxanthin improving renal damage in diabetic mice by regulating PI3K/Akt signaling pathway
Zhenhua WU ; Lihua WU ; Jia TIAN ; Hongling LIU ; Yikun ZHU
Chinese Journal of Endocrine Surgery 2025;19(3):357-362
Objective:To explore the mechanism of astaxanthin improving renal damage in diabetic mice by regulating the PI3K/Akt signaling pathway.Methods:C57BL/6J adult male mice (8 weeks, 22-24 g) were provided by Nanjing Junke Biological Co.,Ltd. The mice were divided into control group (mice raised under normal conditions and given phosphate buffered saline injection, n=15), model group (DN mouse model established as mentioned above, n=15), and astaxanthin group (on the basis of model mice,10 mg/kg body weight dose of astaxanthin was given, n=15). The serum urea nitrogen, serum creatinine and 24 h urine protein levels of mice were detected by biochemical kits. The levels of serum inflammatory factors in mice were detected by ELISA. Mesangial matrix expansion and fibrosis in mice were observed by renal histological analysis. Glomerular podocytes were analyzed by TUNEL detection and immunohistochemical staining. Nephrin and CD2AP expression were analyzed by Western blot.The expression of PI3K/Akt signaling pathway was analyzed by Western blot. Results:The levels of serum urea nitrogen, serum creatinine and 24h urinary protein in model group were higher than those in control group ( P<0.05), but the levels of serum urea nitrogen, serum creatinine and 24h urinary protein in astaxanthin group were lower than those in model group ( P<0.05). The serum levels of TNF-α,1L-1β and 1L-6 in model group were higher than those in control group ( P<0.05), while the levels of TNF-α,1L-1β and 1L-6 in astaxanthin group were lower than those in model group ( P<0.05). Compared with the control group, the model group mainly showed different degrees of pancreatic islet lesions and vacuolar degeneration under light microscope ( P<0.05). HE staining showed glomerular sclerosis and dilatation, capillary lumen shrinkage, diffuse mesangial matrix dilatation, and peripheral capillary thickening and hardening ( P<0.05). PAS staining showed an increase in PAS-positive substances (purple plaques) in the model group of mice ( P<0.05), indicating glycogen accumulation in diabetic glomeruli. Masson staining showed accumulation of type Ⅳ collagen and increased fibrosis (blue stained area) in the kidney of the model group ( P<0.05). Astaxanthin treatment can significantly improve these diabetic induced histopathological changes ( P<0.05). Compared with control group,mesangial matrix expansion and fibrosis were increased in model group ( P<0.05), and decreased in astaxanthin group ( P<0.05). Compared with the control group, the apoptosis rate of podocyte in model group was increased ( P<0.05) ,while that in astaxanthin group was decreased ( P<0.05). The number of WT-1 positive podocytes in model group was lower than that in model group ( P<0.05), and the number of WT-1 positive podocytes in astaxanthin group was higher than that in model group ( P<0.05). Compared with the control group, Nephrin and CD2AP proteins in the model group were decreased ( P<0.05), and the expressions of Nephrin and CD2AP proteins in astaxanthin group were increased ( P<0.05). The protein expressions of p85, p-Akt Ser473 and P-mtor Ser2448 in model group were increased compared with those in control group ( P<0.05), while the protein expressions of p85, P-Akt Ser473 and P-mtor Ser2448 in astaxanthin group were decreased compared with those in model group ( P<0.05) . Conclusion:Astaxanthin significantly improves kidney damage in diabetic mice by regulating the PI3K/Akt signaling pathway,which manifests as inhibiting renal cell lesions and reducing inflammation.
5.Spondyloarthritis with monoclonal garmmopathy of undetermined significance: a report of five cases with literature review
Hongling ZENG ; Jinyan GUO ; Dongbin JIANG ; Xin ZHANG ; Yujie HE ; Guanmin GAO ; Shengyun LIU
Chinese Journal of Rheumatology 2025;29(11):951-955
Objective:To explore the clinical characteristics, treatment, and prognosis of patients with spondyloarthritis (SpA) and clinically insignificant monoclonal garmmopathy of undetermined significance (MGUS).Methods:A retrospective study was performed to analyze the clinical characteristics of patients simultaneously diagnosed with both SpA and MGUS at the First Affiliated Hospital to Zhengzhou University between January 2020 and December 2024, supplemented by a literature review.Results:Among the 5 patients (2 males, 3 females; age range 33~65 years), 4 presented with peripheral arthritis and 2 with extra-articular manifestations. All patients demonstrated elevated globulin and IgG levels, with 4 being HLA-B27 positive. M-protein typing revealed IgG/κ in 3 cases and IgA/λ in 2. All five patients underwent both X-ray and MRI examinations, with sacroiliitis being detected in 4 cases. Three patients with long disease duration showed poor response to conventional therapy (NSAIDs/DMARDs). Targeted therapies yielded variable outcomes: one patient achieved normalized globulin/IgG levels with etanercept (3-year follow-up without MGUS progression); another showed marked clinical improvement and significant globulin/IgG reduction with JAK inhibitor (tofacitinib, treated for 7 years); while a third demonstrated no symptom relief then switching from TNF-α inhibitor to IL-17 inhibitor.Conclusion:Persistent hyperglobulinemia in SpA patients warrants MGUS screening. Those with SpA-MGUS may require targeted therapies, where JAK inhibitors and monoclonal TNF-α inhibitors appear to be the preferred options, though long-term monitoring for MGUS progression remains essential.
6.Mechanism of astaxanthin improving renal damage in diabetic mice by regulating PI3K/Akt signaling pathway
Zhenhua WU ; Lihua WU ; Jia TIAN ; Hongling LIU ; Yikun ZHU
Chinese Journal of Endocrine Surgery 2025;19(3):357-362
Objective:To explore the mechanism of astaxanthin improving renal damage in diabetic mice by regulating the PI3K/Akt signaling pathway.Methods:C57BL/6J adult male mice (8 weeks, 22-24 g) were provided by Nanjing Junke Biological Co.,Ltd. The mice were divided into control group (mice raised under normal conditions and given phosphate buffered saline injection, n=15), model group (DN mouse model established as mentioned above, n=15), and astaxanthin group (on the basis of model mice,10 mg/kg body weight dose of astaxanthin was given, n=15). The serum urea nitrogen, serum creatinine and 24 h urine protein levels of mice were detected by biochemical kits. The levels of serum inflammatory factors in mice were detected by ELISA. Mesangial matrix expansion and fibrosis in mice were observed by renal histological analysis. Glomerular podocytes were analyzed by TUNEL detection and immunohistochemical staining. Nephrin and CD2AP expression were analyzed by Western blot.The expression of PI3K/Akt signaling pathway was analyzed by Western blot. Results:The levels of serum urea nitrogen, serum creatinine and 24h urinary protein in model group were higher than those in control group ( P<0.05), but the levels of serum urea nitrogen, serum creatinine and 24h urinary protein in astaxanthin group were lower than those in model group ( P<0.05). The serum levels of TNF-α,1L-1β and 1L-6 in model group were higher than those in control group ( P<0.05), while the levels of TNF-α,1L-1β and 1L-6 in astaxanthin group were lower than those in model group ( P<0.05). Compared with the control group, the model group mainly showed different degrees of pancreatic islet lesions and vacuolar degeneration under light microscope ( P<0.05). HE staining showed glomerular sclerosis and dilatation, capillary lumen shrinkage, diffuse mesangial matrix dilatation, and peripheral capillary thickening and hardening ( P<0.05). PAS staining showed an increase in PAS-positive substances (purple plaques) in the model group of mice ( P<0.05), indicating glycogen accumulation in diabetic glomeruli. Masson staining showed accumulation of type Ⅳ collagen and increased fibrosis (blue stained area) in the kidney of the model group ( P<0.05). Astaxanthin treatment can significantly improve these diabetic induced histopathological changes ( P<0.05). Compared with control group,mesangial matrix expansion and fibrosis were increased in model group ( P<0.05), and decreased in astaxanthin group ( P<0.05). Compared with the control group, the apoptosis rate of podocyte in model group was increased ( P<0.05) ,while that in astaxanthin group was decreased ( P<0.05). The number of WT-1 positive podocytes in model group was lower than that in model group ( P<0.05), and the number of WT-1 positive podocytes in astaxanthin group was higher than that in model group ( P<0.05). Compared with the control group, Nephrin and CD2AP proteins in the model group were decreased ( P<0.05), and the expressions of Nephrin and CD2AP proteins in astaxanthin group were increased ( P<0.05). The protein expressions of p85, p-Akt Ser473 and P-mtor Ser2448 in model group were increased compared with those in control group ( P<0.05), while the protein expressions of p85, P-Akt Ser473 and P-mtor Ser2448 in astaxanthin group were decreased compared with those in model group ( P<0.05) . Conclusion:Astaxanthin significantly improves kidney damage in diabetic mice by regulating the PI3K/Akt signaling pathway,which manifests as inhibiting renal cell lesions and reducing inflammation.
7.Developing an evidence-based preoperative prehabilitation program for prostate cancer patients
Yuan CHEN ; Mengxin GAO ; Xiaoling HUA ; Jing WANG ; Chunxiang LIU ; Chao CAI ; Hongling SUN
Chinese Journal of Practical Nursing 2025;41(24):1849-1857
Objective:To construct a preoperative prehabilitation program for prostate cancer based on evidence-based and Delphi method, so as to provide theoretical basis for medical staff to carry out preoperative prehabilitation research for prostate cancer patients.Methods:From June 2023 to March 2024, the first draft of the prehabilitation plan for prostate cancer before surgery was formed through evidence summary, semi-structured interviews and expert meetings. The experts in related fields were selected for two rounds of Delphi expert consultation. The items were revised according to the expert consultation opinions to establish the final plan.Results:Totally 16 experts were included, aged (43.19 ± 7.57) years. Five were males and 11 were females. The response rates of the two rounds of expert consultation were both 16/16, and the authority coefficients of the two rounds expert consultation were both 0.85. The Kendall coordination coefficients of the importance and feasibility of the items in the second round of consultation were 0.213 and 0.224, both P<0.05. In the second round of consultation, the value of importance assignment of items at all levels was 4.19-4.94 points, and the full score rate was 43.75%-93.75%. The final scheme included 5 first-level items, 13 second-level items, and 34 third-level items. Conclusions:The preoperative prehabilitation program for prostate cancer is scientific, importanceand applicable, which provides a theoretical basis for clinical preoperative prehabilitation for prostate cancer patients.
8.Stress distribution of mandibular second molars repaired with inlays and onlays made of 3 different mate-rials studied by 3D finite element analysis
Dingyi YU ; Hongling SI ; Wenjing ZHAO ; Ling LIU
Journal of Practical Stomatology 2025;41(4):456-460
Objectives:To investigate whether the use of inlays and onlays made of 3 different materials respectively increases the risk of distal root fracture in mandibular second molars with alveolar bone resorption after root canal treatment.Methods:A 3D fi-nite element analysis(3D FEA)model of distal alveolar bone resorption in mandibular second molars was established using Micro-CT,Mimics21.0,geomagic and ANSYS17.0.3 types of materials(resin nanoceramic Lava ultimate,lithium disilicate ceramics e.max CAD and yttria-stabilized zirconia ceramic e.max Zir CAD)inlays and onlays were utilized for the application of vertical and 45° force loadin respectively.The von-Mises stress distribution on the models was analyzed.Results:Among the models,it was ob-served that cusp-covering onlay model demonstrated minimal Von Mises stresses at distal roots.Lava Ultimate exhibited the highes levels of Von Mises stress than other 2 materials,the stress was more concentrated towards upper parts of distal roots.Conclusion:When distal caries occur below the CEJ of mandibular second molars and are accompanied by alveolar bone resorption,the utilization of cusp-covering onlays and resin nanoceramics can reduce the risk of root fracture in the distal apical region.
9.Construction and practice of an intelligent management system for preoperative anemia based on multidisciplinary collaboration
Cuihua TAO ; Yingsen HU ; Xin LIAO ; Hongling TANG ; Liyuan JIANG ; Jiangshang SUN ; Man MOU ; Xiaohui LIU ; Yong HE ; Jie YANG
Chinese Journal of Blood Transfusion 2025;38(9):1242-1247
Objective: To improve the efficiency and standardization of preoperative anemia diagnosis and treatment by establishing a systematic intelligent management platform for preoperative anemia. Methods: A multidisciplinary collaborative model was adopted to develop a preoperative anemia management system that integrates intelligent early warning, standardized treatment pathways, and quality control. The system utilizes natural language processing technology to automatically capture laboratory data and establish evidence-based medical decision support functions. A pre-post study design was employed to compare changes in preoperative anemia screening rates, preoperative anemia intervention rates, reasonable use of iron supplements, and perioperative red blood cell transfusion rates before and after system implementation. Results: After system implementation, the standardization of anemia diagnosis and treatment significantly improved: 1) Screening effectiveness: The anemia screening rate increased to 50.00% (an increase of 27.24%); 2) Intervention effectiveness: The anemia treatment rate rose to 56.30% (an increase of 14.02%); 3) Treatment standardization: The reasonable use rate of iron supplements increased to 55.33% (an increase of 21.02%); the red blood cell transfusion rate decreased to 18.29% (a decrease of 4.07%), and the amount of red blood cell transfusions was reduced by 291 units. Conclusion: This system achieves full-process management of preoperative anemia through information technology, significantly enhancing the standardization of diagnosis and treatment as well as intervention effectiveness, providing an effective solution for perioperative anemia management.
10.Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel.
Hongling ZHANG ; Changyun GU ; Qiyan WANG ; Xiaolan HUANG ; Qianchong RAN ; Zheng REN ; Yubo LIU ; Yansha LUO ; Shuaiji PAN ; Meiqing YANG ; Jingyan JI ; Xiaoye JIN
Journal of Southern Medical University 2025;45(7):1442-1450
OBJECTIVES:
To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations.
METHODS:
Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction.
RESULTS:
Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10-41 and 1-7.64×10-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China.
CONCLUSIONS
The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans
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China/ethnology*
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Ethnicity/genetics*
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Forensic Genetics/methods*
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Genetics, Population
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Genotype
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Haplotypes
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Phylogeny
;
East Asian People/genetics*

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