1.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.
2.Molecular Characterization Network of Dampness-heat Syndrome in Patients with Chronic Hepatitis B Complicated by Glucose Metabolism Disorder Based on Shadowless Scleral Imaging and Metabolomics Technology
Caiying HE ; Hang ZHOU ; Yanqi CHI ; Baixue LI ; Liang HUANG ; Zhu CHEN ; Dafeng LIU ; Dong WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(14):271-285
ObjectiveThis paper aims to conduct the feature analysis and correlation analysis on the ocular collateral features and differential metabolites in patients with chronic hepatitis B (CHB) complicated by glucose metabolism disorder (GMD),particularly those with the damp-heat syndrome type,by integrating shadowless scleral imaging and metabolomics technologies. MethodsA total of 313 patients were recruited from the Hepatology and Endocrinology Outpatient Departments of Public Health Clinical Center of Chengdu according to the inclusion/exclusion criteria,and they were divided into a CHB group and a CHB complicated by GMD groups (damp-heat syndrome group and non-damp-heat syndrome group). All patients underwent high-definition ocular image acquisition and feature extraction using an intelligent analysis system for shadowless scleral imaging to analyze the differences in the counting of morphological feature scores of ocular collaterals among groups. By using a digital sampling method,24 patients from each group were randomly selected,along with 20 healthy volunteers,for untargeted metabolomic analysis of peripheral serum. Differential metabolites were identified,statistically analyzed,and subjected to potential biomarker analysis and pathway enrichment. Spearman method was performed to conduct the correlation analysis on the differential ocular collateral features and differential metabolites,followed by correlation network construction. ResultsCompared with those in the CHB group,patients with CHB complicated by GMD showed significant changes in ocular collateral feature scores such as "hillock","blood vessels",and "pale dusky coloration" (P<0.05). In comparison with those in the healthy group,metabolites including N-acetylglucosamine,acetylhomoserine,and myo-inositol (AUC>0.7) were identified as potential biomarkers for the disease. Compared with those in the CHB complicated by GMD group with non-damp-heat syndrome,patients with damp-heat syndrome exhibited significant changes in feature scores of "plaques","yellow coloration","spleen",and "gallbladder" (P<0.05). In comparison with those in the healthy group,metabolites such as O2′-4a-cyclic tetrahydrobiopterin,theobromine,xanthurenic acid,and L-glutamic acid 5-phosphate (AUC>0.7) were identified as potential biomarkers for the damp-heat syndrome type. The Spearman correlation analysis reveals weak to moderate linear correlations between the differential scleral collateral features and metabolites. By constructing a "disease-syndrome" network of ocular diagnosis and metabolites,"xanthurenic acid-gallbladder" and "theobromine-plaque/yellow coloration" were identified as specific molecular-phenotypic correlated biomarker clusters for CHB complicated by GMD with dampness-heat syndrome. ConclusionPatients with CHB complicated by GMD demonstrate differential ocular diagnostic features and serum metabolites corresponding to disease states and dampness-heat syndrome. These objective biomarkers can guide both clinical syndrome differentiation and medication. The macro-micro integration based on ocular feature clusters and potential metabolic biomarkers offers an innovative approach to a combined traditional Chinese and Western medicine diagnosis and treatment model for this disease.
3.Protocol for patient version of the cancer symptom management guideline
Jing CHI ; Lanfang ZHANG ; Tingting YANG ; Shihui XIE ; Chaixiu LI ; Shisi DENG ; Jianyao TANG ; Chuhan ZHONG ; Bingqian GUO ; Qiuyan REN ; Yuman LI ; Zhengya QIN ; Ping ZHAO ; Yanni WU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(06):900-907
Effective symptom management can alleviate the physical and psychological distress experienced by patients with cancer, improve quality of life, and contribute to treatment adherence and improve clinical outcomes. However, most existing guidelines are developed for healthcare professionals, and patients and the public have limited access to standardized and comprehensible guidance on symptom management. To address this gap and to facilitate effective communication and shared decision-making, this study proposes the development of a patient version of the cancer symptom management guideline. The development process will adhere to the methodological framework recommended by the Guidelines International Network and the World Health Organization. The GRADE approach will be employed to assess the certainty of evidence and to formulate recommendations. In addition, the process will be informed by the Appraisal of Guidelines for Research and Evaluation Ⅱ (AGREE Ⅱ) instrument and the Reporting Items for Practice Guidelines in Healthcare-Public or Patient Versions of Guidelines (RIGHT-PVG). This protocol outlines the establishment of the guideline working group, the identification and prioritization of key questions, evidence retrieval and appraisal, and the formulation of recommendations, with the aim of ensuring methodological rigor and transparency in the development of the patient guideline and providing methodological reference for similar guideline initiatives.
4.An in vitro experimental study on the efficiency of dissolving pediatric ammonium urate stones in solutions with different pH values
Ningkang ZOU ; Dong LIU ; Bide LIU ; Jiuzhi LI ; Yukui NAN ; Yusufu AINIWAER ; Peixin ZHANG ; Weili DU ; Chi YUAN ; Hongliang JIA
Journal of Modern Urology 2026;31(3):240-243
Objective To evaluate the dissolution effects of pediatric ammonium urate stones in solutions with different pH values, so as to provide reference for the clinical treatment of this type of stones. Methods Eight pure ammonium urate stones(ammonium urate content ≥90%)of similar size and mass(median mass 4.6 g)were obtained from 8 children(<14 years)undergoing percutaneous nephrolithotomy at the People's Hospital of Xinjiang Uygur Autonomous Region. The stones were placed in sodium chloride solutions with pH values of 5.0, 6.0, 7.0, and 8.5 and artificial urine with pH values of 4. 6, 5.0, 7.0, and 8.5 at a constant temperature of 37 ℃. The mass of the stones was recorded before placement and at 24, 48, and 72 h after placement. The dissolution rates of the stones were calculated. Results The pediatric ammonium urate stones could be dissolved in sodium chloride solution, and the total dissolution rate was the highest(94.6%)after 72 hours when the pH value was 6.0. The total dissolution rate of ammonium urate stones in artificial urine after 72 hours were all over 50%, and the total dissolution rate was the highest(79.7%)when the pH value was 4.6. Conclusion Pediatric ammonium urate stones are soluble in sodium chloride solution and artificial urine, and the total dissolution rate is higher in acidic environment.
5.Establishment of Objective Indicators and Evaluation System for Excellent Shape and High Quality of Fresh Gastrodiae Rhizoma
Yuchen XIAO ; Li CHI ; Honghong JIAO ; Yan JIN ; Yuan YUAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(18):16-26
ObjectiveThe quality of fresh Gastrodiae Rhizoma directly determines the efficacy of its terminal products. According to the theory of excellent shape, high quality, and superior effect of authentic medicinal materials, this study aimed to develop a novel quality evaluation system for fresh Gastrodiae Rhizoma by systematically quantifying and integrating appearance traits with bioactive components. MethodsFresh Gastrodiae Rhizoma samples were collected from four major producing regions. After herbal textural research and a literature review, tuber weight, width, length, and aspect ratio were selected as quantitative indicators of appearance, and they were measured by an electronic balance and a digital vernier caliper. Key active components, including gastrodin, p-hydroxybenzyl alcohol, parishins, and total polysaccharides, were quantified via ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) and the phenol-sulfuric acid method. Descriptive statistics and K-means clustering analysis were employed to establish the threshold ranges for the excellent shape and high quality indicators. ResultsTwo specific quantitative evaluation systems for characterizing the excellent shape and high quality of fresh Gastrodiae Rhizoma were established. System 1: tuber weight > 83.90 g, tuber width > 3.50 cm, total gastrodin and p-hydroxybenzyl alcohol content > 0.277%, and total parishin content > 0.561%. System 2: tuber length < 9.89 cm, aspect ratio < 3.41, and total polysaccharide content > 195.274 mg·g-1. The verification results showed that the systems effectively identified fresh Gastrodiae Rhizoma samples with both excellent appearance features and stable bioactive components. ConclusionThis study establishes a multi-dimensional evaluation and grading system for fresh Gastrodiae Rhizoma based on the correlation between shape and quality. This framework provides a scientific basis for the quality control and resource grading of fresh Gastrodiae Rhizoma and lays a methodological foundation for the efficient utilization of both the medicinal and edible value of this herbal medicine.
6.Effect of Serum Containing Zhenwutang on Apoptosis of Myocardial Mast Cells and Mitochondrial Autophagy
Wei TANG ; Meiqun ZHENG ; Xiaolin WANG ; Zhiyong CHEN ; Chi CHE ; Zongqiong LU ; Jiashuai GUO ; Xiaomei ZOU ; Lili XU ; Lin LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):11-21
ObjectiveTo explore the effect of serum containing Zhenwutang on myocardial mast cell apoptosis induced by angiotensin Ⅱ (AngⅡ) and the mechanism of the correlation between apoptosis and mitochondrial autophagy. MethodsIn this experiment, AngⅡ and serum containing Zhenwutang with different concentrations were used to interfere with H9C2 cardiomyocytes for 24 h, and the survival rate of H9C2 cardiomyocytes was detected by cell counting kit-8 (CCK-8) to screen the optimal concentration for the experiment. Enzyme-linked immunosorbent assay (ELISA) was used to detect the content of B-type natriuretic peptide (BNP) in cell culture supernatant, and immunofluorescence was used to detect the cell surface area to verify the construction of the myocardial mast cell model. Subsequently, the experiment was divided into a blank group (20% blank serum), a model group (20% blank serum + 5×10-5 mol·L-1 AngⅡ), low-, medium-, and high-dose (5%, 10% and 20%) serum containing Zhenwutang groups, an autophagy inhibitor group (1×10-4 mol·L-1 3-MA), and autophagy inducer group (1×10-7 mol·L-1 rapamycin). The apoptosis level of H9C2 cells and the changes of mitochondrial membrane potential were detected by flow cytometry. The lysosomal probe (Lyso Tracker) and mitochondrial probe (Mito Tracker) co-localization was employed to detect autophagy. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect Caspase-3, Caspase-9, B-cell lymphoma 2 (Bcl-2), Bcl-2-related X protein (Bax), and cytochrome C (Cyt C) in apoptosis-related pathways and the relative mRNA expression of ubiquitin ligase (Parkin), phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1), and p62 protein in mitochondrial autophagy-related pathways. Western blot was used to detect cleaved Caspase-3, cleaved Caspase-9, Bax, Bcl-2, and Cyt C in apoptosis-related pathways, phosphorylated ubiquitin ligase (p-Parkin), phosphorylated PTEN-induced kinase 1 (p-PINK1), p62, and Bcl-2 homology domain protein Beclin1 in mitochondrial autophagy-related pathways, and the change of microtubule-associated protein 1 light chain 3 (LC3) Ⅱ/Ⅰ ratio. ResultsCCK-8 showed that when the concentration of AngⅡ was 5×10-5 mol·L-1, the cell activity was the lowest, and there was no cytotoxicity. At this concentration, the surface area of cardiomyocytes was significantly increased (P<0.01), and the content of BNP in the supernatant of culture medium was significantly increased (P<0.05). Therefore, AngⅡ with a concentration of 5×10-5 mol·L-1 was selected for the subsequent modeling of myocardial mast cells. Compared with the blank group, the model group and the autophagy inhibitor 3-MA group had a significantly increased apoptosis rate (P<0.01) and significantly decreased mitochondrial membrane potential (P<0.01). The results of immunofluorescence co-localization showed that compared with the blank group, the model group had a significantly decreased number of red and green fluorescence spots. The results of Real-time PCR showed that compared with that in the blank group, the relative mRNA expression of Bax, Caspase-3, Caspase-9, Cyt C, and p62 in the model group was significantly up-regulated (P<0.01), while the relative mRNA expression of Bcl-2, Parkin, and PINK1 was significantly down-regulated (P<0.01). In addition, the relative protein expression of Bax, cleaved Caspase-3, cleaved Caspase-9, Cyt C, and p62 was significantly up-regulated (P<0.01). The LC3Ⅱ/Ⅰ was significantly decreased, and the relative protein expression of Bcl-2, p-Parkin, p-PINK1, and Beclin1 was significantly down-regulated (P<0.01). Compared with the model group, the serum containing Zhenwutang groups and the autophagy inducer group had significantly decreased apoptosis rate (P<0.01), and the decrease ratio of mitochondrial membrane potential is significantly lowered (P<0.01) in a dose-dependent manner. Additionally, both red and green fluorescence spots became more in these groups. In the 3-MA group, the number of red and green fluorescence spots decreased significantly. The relative mRNA expression of Bax, Caspase-3, Caspase-9, Cyt C, and p62 was significantly down-regulated (P<0.05, P<0.01), while that of Bcl-2, Parkin, and PINK1 was significantly up-regulated (P<0.01). In the serum containing Zhenwutang groups, the relative protein expression levels of Bax, cleaved Caspase-3, cleaved Caspase-9, Cyt C, and p62 were significantly down-regulated (P<0.05,P<0.01). The LC3Ⅱ/Ⅰ was significantly increased, and the relative protein expression levels of Bcl-2, p-Parkin, p-PINK1, and Beclin1 were significantly up-regulated (P<0.01). ConclusionThe serum containing Zhenwutang can reduce the apoptosis of myocardial mast cells and increase mitochondrial autophagy. This is related to the inhibition of intracellular Bax/Bcl-2/Caspase-3 apoptosis pathway and regulation of Parkin/PINK1 mitochondrial autophagy pathway.
7.Effect of Sizi Powder (四子散) Orientation Osmotherapy on Upper Limb Motor Function in Stroke Patients with Hemiplegia:A Randomized Controlled Study
Zhuangmiao LI ; Shien LI ; Xia LI ; Yanhong CHI
Journal of Traditional Chinese Medicine 2025;66(2):157-164
ObjectiveTo observe the clinical efficacy and safety of Sizi Powder (四子散, SP) orientation osmotherapy in the treatment of stroke patients with hemiplegia. MethodsIn this study, 94 patients with post-stroke hemiplegia were randomly divided into a control group and a treatment group with 47 patients in each group. The control group received conventional treatment, nursing and rehabilitation training, while the treatment group was treated with SP orientation osmotherapy in addition to the treatments in the control group. The treatment consisted of 20 minutes per session, once daily, 5 times a week, 2 weeks per course, with a total of 2 courses. Before the intervention, after 2 weeks intervention and after 4 weeks intervention, the upper limb motor function was evaluated by using the Fugl-Meyer Assessment (U-FMA). The modified Ashworth Scale (MAS) was used to assess upper limb spasticity, and joint range of motion was measured for shoulder flexion, extension, abduction, internal rotation, external rotation, elbow flexion, wrist palmar flexion, dorsiflexion, ulnar deviation, and radial deviation. Clinical efficacy for spasticity was evaluated after 2 and 4 weeks of treatment. Skin conditions, including burns, allergic reactions, and blisters, were monitored during the treatment process. ResultsA total of 44 patients in the treatment group and 45 patients in the control group completed the study. The results showed that after 2 and 4 weeks of intervention, the U-FMA scores of both groups increased, with the treatment group showing higher scores than the control group (P<0.05). After 4 weeks of treatment, the MAS score distribution improved significantly in both groups (P<0.05), although no significant difference was found between the groups after 2 and 4 weeks treatment(P>0.05). The total effective rate of spasticity clinical efficacy in the treatment group after 2 and 4 weeks was 15.91% (7/44) and 40.91% (18/44), respectively, while in the control group, it was 11.11% (5/45) and 22.22% (10/45). There was no significant difference after 2 weeks treatment (P>0.05), but the treatment group showed a significantly higher total effective rate after 4 weeks treatment (P<0.05). After 2 and 4 weeks of treatment, the joint range of motion in the upper limbs was greater in both groups (P<0.05). After 2 weeks of intervention, the treatment group showed greater range of motion in shoulder flexion, extension, and abduction than the control group, and after 4 weeks of intervention, the treatment group demonstrated greater range of motion in shoulder flexion, extension, abduction, internal rotation, external rotation, and elbow flexion compared to the control group (P<0.05). During the treatment, one patient in the treatment group experienced mild skin allergy, while no other severe adverse reactions, such as intense pain, itching, blisters, or infection, were observed in any patients. ConclusionSP orientation osmotherapy can effectively improve upper limb motor function and joint range of motion in stroke patients with hemiplegia. After 4 weeks of treatment, it can reduce upper limb spasticity and improve clinical efficacy, with good safety.
8.Hydrogel scaffolds loaded with bone marrow mesenchymal stem cells/resveratrol liposomes for traumatic brain injury treatment
Wenya CHI ; Yan YUAN ; Weilin LI ; Tongyu WU ; Yuan YU
Journal of Pharmaceutical Practice and Service 2025;43(2):67-74
Objective To prepare a thermosensitive hydrogel scaffold loaded with bone marrow mesenchymal stem cells(BMSCs) and resveratrol liposomes (RSV-LIP) to form a therapeutic unit and evaluate its treatment efficacy for traumatic brain injury (TBI). Methods BMSCs were extracted from rats, and RSV-LIP was prepared and characterized. Cell models were constructed to investigate the pharmacological effects of BMSCs combined with RSV-LIP. BMSCs and RSV-LIP were then loaded into the hydrogel, and a TBI mouse model was established to evaluate the therapeutic effects of the hydrogel. Results The RSV-LIP had a particle size of 127.8 nm, a Zeta potential of −4.9 mV, an encapsulation efficiency of 78.50%, and a drug loading content of 2.37%. Live-dead staining indicated good biocompatibility of the hydrogel. The combination of BMSCs and RSV-LIP significantly inhibited TNF-α and reduced ROS levels, promoting cell migration in scratch assays. Compared to the control group, the hydrogel group showed significantly lower mNSS scores (P<0.01), higher hanging scores (P<0.001), and reduced stepping errors (P<0.001). Conclusion The combination of BMSCs and RSV-LIP exhibited antioxidative stress, anti-inflammatory, and neurogenic cell migration-promoting effects. When loaded into a hydrogel scaffold and locally implanted, it could improve the motor and sensory functions in TBI mice.
9.Extraction and identification of primary rat brain microvascular endothelial cells by improved tissue block culture method
Fan Zhang ; Bolin Li ; Ming Chi ; Haiqin Liu ; Yuanyu Tang
Acta Universitatis Medicinalis Anhui 2025;60(1):10-14
Objective :
To investigate the brain microvascular tissue block culture method for extracting primary rat brain microvascular endothelial cells and identify its effect.
Methods :
Brain tissue from 4-week-old Sprague Dawley rats was screened, pre-digested and solidified to obtain brain microvascular segments. These segments were subsequently placed in a CO2incubator for primary culture. The target cells were identified by cell morphology and immunocytochemical staining for factor Ⅷ-related antigen.
Results :
After a 48-hour culture periodin vitro, the short spindle cells crawled out from around the brain microvascular segments. After 72 hours, island-like cell culsters formed. After 96 hours the clusters fused and the cells formed a typical monolayer, cobble stone-like, and mosaic arrangement. Factor Ⅷ-related antigen immunocytochemical staining showed that the cytoplasm of the cells appeared brown-red, indicating positive expression; DAB stained the nucleus, showing blue-dark.
Conclusion
The brain microvascular tissue block culture method can isolate and culture primary rat brain microvascular endothelial cells.
10.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.


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