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.Differences in deltamethrin resistance and kdr gene mutation in Culex tritaeniorhynchus population in and outside the Yellow Sea wetland
Xiao-er ZHANG ; Zhi-ming WU ; Ye TIAN ; Qian CUI ; Yu-qian JI ; Huan WANG ; Shu-juan YANG ; Yi-chao ZHAO ; Yu WANG ; Hua-yu YIN ; Yu DING ; Guo-jin YAN ; Min-sen ZHAO ; Shou-gang ZHANG ; Bing-dong SONG ; Hong-na CHEN ; Jian GAO ; Wei-fang YANG ; Yu-fu ZHANG ; Hui LIU ; Hong-liang CHU
Acta Parasitologica et Medica Entomologica Sinica 2026;33(2):101-107
Objective To gain insights into the biological characteristics of different populations of Culex tritaeniorhynchus within and around the Yellow Sea wetland from the perspective of the occurrence of resistance, we investigated the levels of resistance to deltamethrin and kdr gene mutation in the wetland and its peripheral areas. Methods Specimens were collected from Cx. tritaeniorhynchus populations at two monitoring sites in the Rare Bird National Nature Reserve and Tiaozi Ni Wetland Scenic Area, and also from two populations in Yancheng City and the Liuhe District of Nanjing, and the resistance of these mosquitoes to deltamethrin was determined using the CDC biotest bottle method. For each concentration of deltamethrin assessed, a random subset of exposed specimens was selected for amplification of the kdr gene fragment, followed by Sanger sequencing to identify and analyze resistance-associated mutations. Results The LC50 levels of deltamethrin among mosquitoes from the four populations in Luhe, Yancheng, the Rare Bird National Nature Reserve and the Tiaozi Ni Wetland Scenic Area were 2.048 5, 7.798 2, 3.473 3, and 17.695 5 mg/mL, respectively, with corresponding concentrations of deltamethrin ranging from 0.005 to 5.000,0.050 to 50.000,0.050 to 25.000 and 0.050 to 50.000 mg/mL, respectively. Furthermore, the ranges of the KT50 values were 11.76-107.43, 67.05-216.30,29.77-107.43 and 28.40-329.51 min; the 1-h knockdown rates were 34.58%-99.15%, 9.52%-43.80%, 55.09%-73.01%, and 10.09%-68.07%; and the 24-h mortality rates were 12.15%-67.52%,9.52%-79.56%,13.17%-82.21%, and 11.01%-78.99%, respectively. With respect to kdr gene mutation, we assayed a total of 63,70,59, and 57 mosquitoes for the four populations, for which we detected L1014F mutation frequencies of 14.29%, 35.00%, 20.34%, and 31.58%, respectively, with a majority of these mutations being heterozygous for resistance. In addition, five adult mosquitoes were identified has having synonymous mutations at site 1011[i. e. , AAT(asparagine)mutation to AAC(asparagine)]. Conclusions Our findings revealed the clear resistance of Cx. tritaeniorhynchus to deltamethrin in the Yancheng region of the Yellow Sea wetland, and the resistance phenotype and kdr frequency of Cx. tritaeniorhynchus in the wetland environment were comparable to those of Cx. tritaeniorhynchus in the wetland environment, thereby indicating that the resistance of different populations of Cx. tritaeniorhynchus was homogeneous under the pressure of different insecticide selection within and around the wetland. However, the underlying mechanisms need to be further studied.
3.A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2
Jingyuan ZHANG ; Xiaoqi WU ; Jiayuan DAI ; Xianghong JIN ; Yuze CAO ; Rui LUO ; Hanlin ZHANG ; Tiekuan DU ; Xiaotian CHU ; Peipei CHEN ; Hao QIAN ; Pengguang YAN ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2025;4(3):316-324
This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the
4.Mechanism of Guben Jiannao Liquid on Alzheimer's disease by regulating autophagy based on LKB1/AMPK/mTOR pathway.
Jing-Fan ZHANG ; Qing-Hua LONG ; Chu-Hua ZENG ; Yi-Min CHEN ; Zhe-Yao XIE ; Yuan-Qin CAI ; Xi WANG
China Journal of Chinese Materia Medica 2025;50(2):293-300
This study explores the mechanism of Guben Jiannao Liquid on Alzheimer's disease(AD) by regulating autophagy based on the liver kinase B1(LKB1)/adenosine monophosphate-activated protein kinase(AMPK)/mammalian target of rapamycin(mTOR) pathway. Male SD rats were randomly divided into the blank group, model group, low-dose and high-dose groups of Guben Jiannao Liquid, and rapamycin group, with 10 rats in each group. Except for the blank group, all other groups of rats were injected bilaterally in the hippocampus with β-amyloid(Aβ)_(1-42) to establish the AD model. The low-dose(6.21 g·kg~(-1)) and high-dose(12.42 g·kg~(-1)) groups of Guben Jiannao Liquid and rapamycin group(1 mg·kg~(-1)) were given the corresponding drugs by gavage, and the blank and model groups were given an equal volume of saline by gavage for four weeks. Morris water maze was used to test the learning and memory ability of rats in each group; hematoxylin-eosin(HE) and Nissl staining were used to observe the morphological and quantitative changes of neurons and Nissl bodies in the CA1 region of rat hippocampus; immunohistochemistry was utilized to detect Aβ-positive cell expression in the CA1 region of rat hippocampus; transmission electron microscopy was employed to observe ultrastructural changes in rat hippocampal tissue, and Western blot was used to examine the protein expression levels of LKB1, p-AMPK/AMPK, p-mTOR/mTOR, Beclin1, p62, and LC3-Ⅱ in the hippocampal tissue of the rats. The results showed that compared with those in the blank group, rats in the model group had elevated evasion latency and decreased number of platform transversal and residence time in the platform quadrant. The number of neurons in the hippocampal area was reduced, and the morphology was impaired. The average integral optical density value of Aβ-positive cells was elevated; the expression levels of LKB1, p-AMPK/AMPK, Beclin1, and LC3-Ⅱ were decreased, and the expression levels of p-mTOR/mTOR and p62 were increased. Compared with those in the model group, rats in the low-dose and high-dose groups of Guben Jiannao Liquid had shorter evasion latency, higher number of platform transversal, longer residence time in the platform quadrant, increased number of neurons, decreased expression of Aβ-positive cells and average integral optical density values, and increased number of autophagic lysosomes in hippocampal tissue. The expression levels of LKB1, Beclin1, and LC3-Ⅱ were elevated in the hippocampus of rats in the low-dose group of Guben Jiannao Liquid. The expression levels of LKB1, p-AMPK/AMPK, Beclin1, and LC3-Ⅱ were elevated in the hippocampal tissue of rats in the high-dose group of Guben Jiannao Liquid, and the expression levels of p-mTOR/mTOR and p62 were decreased. The findings suggest that Guben Jiannao Liquid can improve cognitive impairment in AD rats, and its mechanism of action may be related to the activation of the LKB1/AMPK/mTOR signaling pathway and the up-regulation of autophagy level.
Animals
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Alzheimer Disease/physiopathology*
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Male
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TOR Serine-Threonine Kinases/genetics*
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Autophagy/drug effects*
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Rats, Sprague-Dawley
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Protein Serine-Threonine Kinases/genetics*
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AMP-Activated Protein Kinases/genetics*
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Rats
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Drugs, Chinese Herbal/administration & dosage*
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Signal Transduction/drug effects*
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AMP-Activated Protein Kinase Kinases
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Humans
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Hippocampus/metabolism*
5.Textual study of Baihuasheshecao (Hedyotis diffusa).
Dong-Min JIANG ; Chu-Chu ZHONG ; Pang-Chui SHAW ; Bik-San LAU ; Tai-Wai LAU ; Guang-Hao XU ; Ying ZHANG ; Zhi-Guo MA ; Hui CAO ; Meng-Hua WU
China Journal of Chinese Materia Medica 2025;50(15):4386-4396
Baihuasheshecao(Hedyotis diffusa) is a commonly used traditional Chinese medicine derived from the whole herb of H. diffusa and has been widely utilized in folk medicine. It possesses anti-tumor, antibacterial, and anti-inflammatory properties, making it one of the frequently used herbs in TCM clinical practice. However, Shuixiancao(H. corymbosa) and Xianhuaercao(H. tenelliflora), species of the same genus, are often used as substitutes for Baihuasheshecao. To substantiate the medicinal basis of Baihuasheshecao, this study systematically reviewed classical herbal texts and modern literature, examining its nomenclature, botanical origin, harvesting, processing, properties, meridian tropism, pharmacological effects, and clinical applications. The results indicate that Baihuasheshecao was initially recorded as "Shuixiancao" in Preface to the Indexes to the Great Chinese Botany(Zhi Wu Ming Shi Tu Kao). Based on its morphological characteristics and habitat description, it was identified as H. diffusa in the Rubiaceae family. Subsequent records predominantly refer to it as Baihuasheshecao as its official name. In most regions, Baihuasheshecao is recognized as the authentic medicinal material, distinct from Shuixiancao and Xianhuaercao. Baihuasheshecao is harvested in late summer and early autumn, and the dried whole plant, including its roots, is used medicinally. The standard processing method involves cutting. It is known for its effects in clearing heat, removing toxins, reducing swelling and pain, and promoting diuresis to resolve abscesses. Initially, it was mainly used for treating appendicitis, intestinal abscesses, and venomous snake bites, and later, it became a treatment for cancer. The excavation of its clinical value followed a process in which overseas Chinese introduced the herb from Chinese folk medicine to other countries. After its unique anti-cancer effects were recognized abroad, it was reintroduced to China and gradually became a crucial TCM for cancer treatment. The findings of this study help clarify the historical and contemporary uses of Baihuasheshecao, providing literature support and a scientific basis for its rational development and precise clinical application.
Humans
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China
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Drugs, Chinese Herbal/chemistry*
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Hedyotis/classification*
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Medicine, Chinese Traditional/history*
6.Analysis of anal human papillomavirus infection among HIV-positive men who have sex with men in Shenzhen
Tingdan GONG ; Tianyang LIU ; Jie QIN ; Siwei ZHANG ; Rongqing YANG ; Wenzhu CHU ; Lanlan WEI ; Min ZHUANG
Chinese Journal of Microbiology and Immunology 2025;45(4):277-284
Objective:To investigate the prevalence and genotype distribution of human papillomavirus (HPV) infection in the anorectal region among human immunodeficiency virus (HIV)-positive men who have sex with men (MSM) in Shenzhen, and explore the differences between HIV-positive and HIV-negative MSM populations, providing scientific evidence for HPV screening, vaccination, and related disease prevention.Methods:A total of 100 MSM recruited from the Department of Dermatovenerology of the Third People′s Hospital of Shenzhen between 2023 and 2024 were included. Questionnaire collected sociodemographic and clinical characteristics. Anorectal exfoliated cells were analyzed for HPV genotyping, and blood samples were tested for HIV antibodies and T lymphocyte subsets. Chi-square test was used to assess associations between qualitative variables. Results:Among 100 MSM, 58 were HIV-positive and 42 HIV-negative. The overall HPV infection rate was 93.10% (54/58) in HIV-positive MSM, with high-risk HPV at 79.31% (46/58) and low-risk HPV at 75.86% (44/58). The predominant genotypes were HPV6, 11, 16, 52, 18, 59, and 68. In HIV-negative MSM, HPV infection rate was 95.24% (40/42), with high-risk HPV at 57.14% (24/42) and low-risk HPV at 92.50% (37/40), dominated by HPV6, 11, 16, 51 and 52. HIV-positive MSM showed significantly higher infection rates of high-risk HPV16/18 ( P=0.032), HPV58 ( P=0.020), HPV59 ( P=0.031), and HPV68 ( P=0.007) compared to HIV-negative MSM. The maximum number of concurrent HPV infections was 12 in HIV-positive MSM versus 4 in HIV-negative MSM. Multivariate analysis revealed that HIV-positive MSM with CD4/CD8 ratio≤0.9 had significantly higher HPV positivity ( P<0.05). Conclusions:HIV-positive MSM exhibit elevated rates of high-risk and multiple HPV infections, closely associated with immune dysfunction. Strengthened HPV screening, vaccination, and immune status management are critical for preventing HPV-related malignancies in the population.
7.Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique (version 2025)
Sihao HE ; Junchao XING ; Tongwei CHU ; Zhengqi CHANG ; Xigao CHENG ; Fei DAI ; Xiaobing JIANG ; Jie HAO ; Jiang HU ; Jinghui HUANG ; Tianyong HOU ; Fei LUO ; Bo LIAO ; Changqing LI ; Lei LIU ; Guodong LIU ; Peng LIU ; Sheng LU ; Weishi LI ; Yang LIU ; Zhen LIU ; Wei MEI ; Peifu TANG ; Bing WANG ; Bing WANG ; Ce WANG ; Hongli WANG ; Liang WANG ; Shengru WANG ; Xiaobin WANG ; Yang WANG ; Yingfeng WANG ; Zheng WANG ; Jianzhong XU ; Guoyong YIN ; Haiyang YU ; Qiang YANG ; Zhaoming YE ; Bin ZHANG ; Chengmin ZHANG ; Jun ZOU ; Qiang ZHOU ; Min ZHAO ; Rui ZHOU ; Xiaojun ZHANG ; Yongfei ZHAO ; Zhongrong ZHANG ; Zehua ZHANG ; Yingze ZHANG
Chinese Journal of Trauma 2025;41(11):1035-1047
For middle-aged and elderly patients with conditions such as spinal fractures and degenerative spinal diseases, spinal internal fixation is a core surgical procedure for reconstructing spinal stability, heavily relying on the biomechanical stability provided by pedicle screw systems. Whereas, these patients are often complicated by osteoporosis that can significantly compromise the stability of the bone-pedicle screw interface, leading to a marked increase in pedicle screw loosening and surgical failure rates. The bone cement-augmented pedicle screw technique, which involves injecting bone cement into the vertebral body or screw trajectory to optimize the mechanical properties of the bone-pedicle screw composite, has been proven to significantly enhance fixation strength and effectively prevent screw-related failures, thereby reducing the incidence of internal fixation failure in high-risk populations undergoing spinal fusion. However, the widespread clinical application of this technique has faced challenges such as inaccurate clinical decision-making (indication and contraindication selection), non-standardized operative practices, and insufficient awareness of complication prevention, resulting in considerable variability in clinical outcomes and even severe complications. To address this, Prof. Luo Fei from First Affiliated Hospital of Army Medical University initiated the project and the Chinese Association Orthopaedic Surgeons organized relevant experts to develop the Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique ( version 2025), based on current evidence. The guidelines put forward 8 recommendations regarding the clinical value, scope of application, and operational standards of the technique, aiming to provide evidence-based medical support and technical standardization for clinical decision-making.
8.Research progress in lipidomics in alcohol use disorder
Wenju LI ; Min CHEN ; Yamei ZHANG ; Xiang CHU ; Jun FEI ; Qiaoling SONG
Chongqing Medicine 2025;54(7):1709-1712,1718
Alcohol use disorder(AUD)is a common mental disorder and physiological disease impac-ting millions globally.Although multiple studies have explored the causes and treatments of AUD,its exact mechanisms remain poorly understood.The development of lipidomics technology provides a new perspective for studying AUD and can be used to investigate its biological mechanisms.This review summarizes recent ap-plications and progress of lipidomics in AUD research,as well as its potential value in prevention and treat-ment strategies.
9.Effects of Zhenwu decoction on inflammation,oxidative stress,and apoptosis in glomerular epithelial cells induced by lipopolysaccharide
Man-fei WANG ; Xi CHAI ; Xia-xia GAO ; Kai-bo CHU ; Yu-min ZHANG ; Yue-feng TIAN ; Li-qing HE
Chinese Pharmacological Bulletin 2025;41(5):985-993
Aim To investigate the effect of Zhenwu decoction on inflammation,oxidative stress and apopto-sis of human glomerular epithelial cells(HGEC)in-duced by lipopolysaccharide(LPS)based on Nrf2/HO-1 signaling pathway,and to explore the underlying mechanism.Methods HGEC were treated with LPS(1.0 mg·L-1)for 24 h to construct an oxidative damage model.On this basis,2.5%,5%and 10%Zhenwu decoction-containing serum were added to the low,medium and high dose groups of Zhenwu decoc-tion,and a normal group was set up.The changes of cell activity were assessed by MTT method and LDH method.The contents of TNF-α,IL-6,IL-10,SOD,CAT,GSH-Px,ROS and MDA in each group were de-tected by ELISA.The apoptosis of each group was de-tected by flow cytometry.The mRNA and protein ex-pressions of Bax,Bcl-2,caspase-3,caspase-9 and Nrf2/HO-1 pathway were detected by RT-qPCR and Western blot,respectively.Results Compared to the normal group,the model group of HGEC exhibited increased levels of inflammatory cytokines,enhanced oxidative stress response and aggravated apoptosis;after inter-vention with various doses of Zhenwu decoction,the in-flammatory levels in HGEC were reduced,oxidative damage and apoptosis were effectively ameliorated,and the mRNA and protein expression levels of the Nrf2/HO-1 signaling pathway were upregulated.Conclu-sions Zhenwu decoction can protect HGEC from LPS-induced inflammation and oxidative damage and im-prove apoptosis.The mechanism may be related to the activation of Nrf2/HO-1 signaling pathway.
10.Changes in serum NOV/CCN3 levels in mid-to late-term pregnant women and their association with gesta-tional diabetes mellitus and pregnancy outcome
Wenjing ZHENG ; Xiangling CHU ; Yuqiong WU ; Min ZHANG ; Xiaohong CHU ; Nan ZHANG ; Honglin HU
The Journal of Practical Medicine 2025;41(1):71-77
Objective To investigate alterations in serum NOV/CCN3 levels among women during mid-to-late pregnancy and elucidate its association with gestational diabetes mellitus(GDM)and pregnancy outcomes.Methods Based on the results of an oral glucose tolerance test(OGTT),we categorized 252 pregnant women into two groups:the GDM group and the control group.Within the GDM group,participants were further stratified based on pre-pregnancy body mass index levels and pregnancy outcomes.We collected clinical data for all study subjects and compared differences in general information,biochemical indicators,as well as NOV/CCN3 levels between these groups.Results The serum levels of NOV/CCN3 in the GDM group were significantly higher compared to those in the control group(P<0.001).Spearman correlation analysis revealed a positive association between serum NOV/CCN3 and pre-pregnancy body weight,pre-pregnancy body mass index,insulin resistance index,and total cholesterol;while a negative correlation was observed with insulin sensitivity index(P<0.05).Logistic regression analysis demonstrated that NOV/CCN3 is an independent risk factor for the development of GDM[OR=1.097,95%CI(1.020~1.179),P=0.013],as well as adverse pregnancy outcomes in GDM patients[OR=1.032,95%CI(1.020~1.045),P<0.001].ROC analysis indicated AUCs of 0.840 and 0.784 for these associations respectively(P<0.05).Conclusions Serum levels of NOV/CCN3 in pregnant women at mid-to late-stage are associated with obesity,insulin resistance,and glucose-lipid metabolism,suggesting a potential role of NOV/CCN3 in glycolipid metabolism during gestational diabetes mellitus(GDM).These findings provide novel insights for assessing the occurrence of GDM and predicting pregnancy outcomes in mid-to late-stage pregnancies.


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