1.Case Analysis of MYH9 Related Disease with Non-Hodgkin Lymphoma Caused by Rare Mutations.
Xue-Ting KONG ; Dan-Yu WANG ; Ze-Lin LIU ; Zhao-Gui ZHOU ; Nan ZHONG ; Lei LIU ; Meng-Di JIN ; Hai-Yan CUI
Journal of Experimental Hematology 2025;33(4):1145-1149
OBJECTIVE:
To analyze the MYH9 gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between MYH9 gene and tumors.
METHODS:
Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The MYH9 gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing.
RESULTS:
The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the MYH9 gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag.
CONCLUSION
A novel mutation of MYH9 was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the MYH9 gene and tumors, suggesting that the MYH9 gene may be associated with the development of diffuse large B-cell lymphoma.
Humans
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Myosin Heavy Chains/genetics*
;
Thrombocytopenia/genetics*
;
Mutation
;
Male
;
Lymphoma, Non-Hodgkin/genetics*
;
Lymphoma, Large B-Cell, Diffuse/genetics*
;
Molecular Motor Proteins/genetics*
;
Pedigree
2.Exploring the causal relationship between leukocyte telomere length and prostatitis, orchitis, and epididymitis based on a two-sample Mendelian randomization.
Dan-Yang LI ; Shun YU ; Bo-Hui YANG ; Jun-Bao ZHANG ; Guo-Chen YIN ; Lin-Na WU ; Qin-Zuo DONG ; Jin-Long XU ; Shu-Ping NING ; Rong ZHAO
National Journal of Andrology 2025;31(4):306-312
OBJECTIVE:
To investigate the genetic causal relationship of leukocyte telomere length (LTL) with prostatitis, orchitis and epididymitis by two-sample Mendelian randomization (MR).
METHODS:
Using LTL as the exposure factor and prostatitis, orchitis and epididymitis as outcome factors, we mined the Database of Genome-Wide Association Studies (GWAS). Then, we analyzed the causal relationship of LTL with prostatitis, orchitis and epididymitis by Mendelian randomization using inverse variance weighting (IVW) as the main method and weighted median and MR-Egger regression as auxiliary methods, determined the horizontal multiplicity by MR-Egger intercept test, and conducted sensitivity analysis using the leaving-one-out method.
RESULTS:
A total of 121 related single nucleotide polymorphisms (SNPs) were identified in this study. IVW showed LTL to be a risk factor for prostatitis (OR = 1.383, 95% CI: 1.044-1.832, P = 0.024), and for orchitis and epididymitis as well (OR = 1.770, 95% CI: 1.275-2.456, P = 0.000 6).
CONCLUSION
Genetic evidence from Mendelian randomized analysis indicates that shortening of LTL reduces the risk of prostatitis, orchitis and epididymitis.
Humans
;
Male
;
Mendelian Randomization Analysis
;
Epididymitis/genetics*
;
Prostatitis/genetics*
;
Polymorphism, Single Nucleotide
;
Leukocytes
;
Orchitis/genetics*
;
Genome-Wide Association Study
;
Telomere
;
Risk Factors
3.CDK5-Induced HCN2 Channel Dysfunction in the Prelimbic Cortex Drives Allodynia and Anxiety-Like Behaviors in Neuropathic Pain.
Lu CHEN ; Shuai CAO ; Yun-Ze LIU ; Qi-Fan YANG ; Jin-Yu YANG ; Dan-Yang ZHANG ; Guo-Guang XIE ; Xiang-Sha YIN ; Ying ZHANG ; Yun WANG
Neuroscience Bulletin 2025;41(12):2254-2271
The prelimbic cortex (PL) plays a critical role in processing both the sensory and affective components of pain. However, the underlying molecular mechanisms remain poorly understood. In this study, we observed a reduction in hyperpolarization-activated cation current (Ih) in layer V pyramidal neurons of the contralateral PL in a mouse model of spared nerve injury (SNI). The expression of hyperpolarization-activated cyclic nucleotide-gated 2 (HCN2) channels was also decreased in the contralateral PL. Conversely, microinjection of fisetin, a partial agonist of HCN2, produced both analgesic and anxiolytic effects. Additionally, we found that cyclin-dependent kinase 5 (CDK5) was activated in the contralateral PL, where it formed a complex with HCN2 and phosphorylated its C-terminus. Knockdown of CDK5 restored HCN2 expression and alleviated both pain hypersensitivity and anxiety-like behaviors. Collectively, these results indicate that CDK5-mediated dysfunction of HCN2 in the PL underlies nerve injury-induced mechanical hypersensitivity and anxiety.
Animals
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Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/metabolism*
;
Hyperalgesia/metabolism*
;
Cyclin-Dependent Kinase 5/metabolism*
;
Neuralgia/metabolism*
;
Male
;
Anxiety/metabolism*
;
Mice
;
Potassium Channels/metabolism*
;
Mice, Inbred C57BL
;
Disease Models, Animal
;
Pyramidal Cells/metabolism*
4.Microbiome, metabolome, and transcriptome analyses in esophageal squamous cell carcinoma: insights into immune modulation by F. nucleatum.
Xue ZHANG ; Jing HAN ; Yudong WANG ; Li FENG ; Zhisong FAN ; Yu SU ; Wenya SONG ; Lan WANG ; Long WANG ; Hui JIN ; Jiayin LIU ; Dan LI ; Guiying LI ; Yan LIU ; Jing ZUO ; Zhiyu NI
Protein & Cell 2025;16(6):491-496
5.Nodal Marginal Zone B-Cell Lymphoma of a Single Lymph Node in the Adult Neck:Report of One Case.
Pan-Pan LI ; Ya-Ping LUO ; Xiao-Hua SHI ; Yu CHEN ; Feng-Dan WANG ; Tong SU ; Zhu-Hua ZHANG ; Feng FENG ; Zheng-Yu JIN
Acta Academiae Medicinae Sinicae 2025;47(4):651-659
Nodal marginal zone B-cell lymphoma(NMZL),the least common subtype of marginal zone lymphoma,represents a low-grade malignancy arising from the marginal zone of lymph node follicles,composed of small B-cells with an inert non-Hodgkin lymphoma nature.It accounts for 1.5% to 1.8% of all non-Hodgkin lymphomas and 10% of all marginal zone lymphomas.The low incidence and lack of typical clinical and pathological features pose a challenge to the diagnosis and clinical management of NMZL.In this article,we reported the diagnosis and treatment of a case of NMZL located in the parapharyngeal space of the left neck and reviewed the relevant literature from both domestic and international sources.We summarized the clinical manifestations,histopathological features,immunohistochemical characteristics,imaging features,diagnosis and treatment modalities,and prognosis of NMZL.
Humans
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Lymphoma, B-Cell, Marginal Zone/pathology*
;
Lymph Nodes/pathology*
;
Neck/pathology*
;
Male
6.Distribution of traditional Chinese medicine syndromes in intrahepatic cholestasis of pregnancy and its association with perinatal outcomes
Jin CHEN ; Dan YANG ; Qianrong LI ; Yan SANG ; Zhi YU ; Jiao XU ; Xuemei WANG ; Heying HUANG ; Xue TANG ; Lin ZHUANG ; Xiaoyin WANG
Journal of Clinical Hepatology 2025;41(11):2343-2350
ObjectiveTo investigate the distribution of traditional Chinese medicine (TCM) syndromes in intrahepatic cholestasis of pregnancy (ICP) and its association with perinatal outcomes, and to provide a basis for precise treatment based on TCM syndrome differentiation. MethodsA cross-sectional study was conducted among 275 patients with ICP who were admitted to The Affiliated Hospital of Chengdu University of Traditional Chinese Medicine from April 2023 to April 2025. A hierarchical cluster analysis was used to summarize TCM syndromes. The Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between groups, and the chi-square test was used for comparison of categorical data between groups. A multivariate Logistic regression analysis was used to identify the clinical features significantly associated with TCM syndrome. ResultsThe cluster analysis identified three core TCM syndromes among the 275 patients with ICP, i.e., liver-gallbladder damp-heat syndrome (45.8%), syndrome of blood deficiency generating wind (30.9%), and liver depression and spleen deficiency syndrome (23.3%). There was a significant difference in the distribution of TCM syndromes between different groups stratified by maternal age at delivery, parity, history of ICP recurrence, gestational weeks at disease onset, total bile acid (TBA), alanine aminotransferase (ALT), and comorbidity with gestational diabetes mellitus (GDM) (all P<0.05). The multivariate Logistic regression analysis showed that<34 gestational weeks at disease onset was significantly associated with all three syndromes (damp-heat: odds ratio [OR]=3.769, P<0.001; blood deficiency: OR=4.031, P<0.001; liver stagnation: OR=3.552, P<0.001). Liver-gallbladder damp-heat syndrome was associated with maternal age ≥35 years at disease onset (OR=2.048, P=0.014), parity ≥2 times (OR=1.921, P=0.034), history of ICP recurrence (OR=2.404, P=0.030), ALT ≥200 U/L (OR=2.051, P=0.018), comorbidity with GDM (OR=1.944, P=0.029), and TBA ≥40 μmol/L (OR=2.542, P=0.024). The syndrome of blood deficiency generating wind syndrome was associated with maternal age ≥35 years (OR=2.939, P=0.003), parity ≥2 time (OR=3.222, P=0.003), history of ICP recurrence (OR=3.809, P=0.010), ALT ≥200 U/L (OR=2.889, P=0.006), comorbidity with GDM (OR=3.711, P=0.001), and comorbidity with hypertensive disorders of pregnancy (OR=4.472, P=0.011). Liver depression and spleen deficiency syndrome was associated with TBA ≥40 μmol/L (OR=2.995, P=0.044). The analysis of perinatal outcomes showed that there were significant differences in mode of delivery, gestational weeks at the time of delivery, postpartum blood loss, and neonatal birth weight between the three groups with different TCM syndromes (all P<0.05). ConclusionLiver-gallbladder damp-heat syndrome, syndrome of blood deficiency generating wind, and liver depression and spleen deficiency syndrome are the main TCM syndrome types in ICP, and the distribution of TCM syndromes is closely associated with clinical factors and perinatal outcomes, which provides a basis for precise TCM syndrome differentiation and individualized treatment.
7.FAN Guan-Jie's Experience in Treating Patients with Obesity Using Medicinal Cluster for Activating Blood and Removing Stasis
Hui-Yan ZENG ; Dan YU ; Sheng-Ling ZHU ; Jin-Ming ZHANG ; Wen-Wen XIE ; Guan-Jie FAN
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(8):2184-2188
Based on the views of FAN's Eight Dynamic-Static Sequential Methods,Professor FAN Guan-Jie believes that the obesity has the pathological factor of blood stasis in addition to qi deficiency and phlegm-damp.The compatibility of blood-activating and stasis-removing drugs for the treatment of obesity is accorded to the progression of the disease.In the clinic,Crataegi Fructus associated medicinal cluster of activating blood and removing stasis is usually recommended.The medicinal cluster is with Crataegi Fructus as the chief medicinal,and is compatible with drug pairs of Salviae Miltiorrhizae Radix et Rhizoma-Carthami Flos and Moutan Cortex-Paeoniae Radix Rubra.Crataegi Fructus associated medicinal cluster is able to treat qi and blood simultaneously,mainly aimed at removing blood stasis,supplemented by nourishing blood,promoting qi and blood movement,and invigorating spleen and stomach,which has the features of simultaneous dispersing and astringency,and proper combination of static therapy and dynamic therapy,and is suitable for obese patients with blood stasis obstruction in the vessels.
8.Construction and implementation of a bed resource allocation management model based on lean man-agement principles
Dan HU ; Yongmei JIN ; Shuangshuang LI ; Hanchen NI ; Lingli XU ; Zhu JIN ; Baoqing YU
Modern Hospital 2024;24(10):1557-1559
Objective To construct a rational and efficient bed resource allocation management model to reduce pre-hos-pital waiting times,ensure patient safety,and improve satisfaction.Methods Based on lean management principles,a bed re-source allocation management model was developed and continuously optimized.The study compared bed turnover rates and effi-ciency indices,as well as preoperative waiting times for surgical patients,average length of stay,patient satisfaction,and anxiety incidence before and after the implementation of the lean model to evaluate its effectiveness.Results After implementing the lean bed resource allocation model,the bed efficiency index increased by 14.29%,and bed turnover rates improved by 3.34%.The average preoperative waiting time for surgical patients decreased by 100%,and the average length of stay reduced by 87.71%.Patient satisfaction increased by 2.4%,while anxiety incidence dropped by 28.1%.Conclusion The implementa-tion of a lean bed resource allocation model can enhance hospital bed efficiency,shorten preoperative waiting times for surgical patients,reduce average length of stay,and improve patient satisfaction.
9.Drug resistance and genetic diversity of clinical strains of Helicobacter pylori in the Qiannan Prefecture and Guiyang City,and their relationships with diseases
Yuan-Yuan ZHANG ; Ke PAN ; Meng-Heng MI ; Yu-Zhu GUAN ; Qiu-Dan LU ; Juan ZHENG ; Jin ZHANG ; Tian-Shu WANG ; Qi LIU ; Zheng-Hong CHEN
Chinese Journal of Zoonoses 2024;40(1):46-55
To understand Helicobacter pylori's drug resistance,genetic diversity,and relationship with clinical diseases in the Guiyang and Qiannan minority areas of Guizhou Province,we collected samples through endoscopy,and isolated and cul-tured H.pylori.The drug resistance and genotype characteristics were determined.The differences in different regions and dis-ease types were compared,and the structural characteristics of H.pylori and mixed infections with different strains of H.py-lori in Qiannan Prefecture were analyzed.A difference in the composition ratio of EPYIA typing in the cagA variable region was observed between the two areas(P=0.012),and the composition ratio of the vacA genotype differed(P=0.000).A total of 94.6%(53/56)new sequences of H.pylori strains from two regions were obtained by MLST.The rate of infection by H.pylori mixed with different strains was 44.4%in Qiannan Pre-fecture,and no significant difference was observed in the com-position of H.pylori mixed infections among patients with dif-ferent clinical diseases(P=0.349).Differences in EPI YA typ-ing and the vacA genotype composition ratio in the cagA varia-ble region of H.pylori were observed between the Qiannan Prefecture and Guiyang City.
10.Protective effect of Humanin on rotenone-induced dopamine neuron toxicity
Yaohui SHAN ; Qifu ZHANG ; Jin CHENG ; Feng YE ; Xi ZHANG ; Wenpei YU ; Xiaogang WANG ; Yuanpeng ZHAO ; Guorong DAN ; Mingliang CHEN ; Yan SAI
Journal of Army Medical University 2024;46(7):670-677
Objective To investigate the mechanism and protective effect of Humanin(HN)on rotenone(Rot)-induced toxic damage for dopamine neurons.Methods The Rot-poisened PC12 cell model was constructed,and the control group,the Rot poisening group,the HN pretreated Rot poisening group,and the HN treatment group were set up.ELISA was used to detect the content of HN inside and outside of Rot-infected cells,CCK-8 assay was used to detect cell viability,and ATP detection kit was used to detect the intracellular ATP content.Dichloro-dihydro-fluorescein diacetate(DCFH-DA)assay was used to detect the level of reactive oxygen species(ROS)in cells.Western blotting was performed to detect the expression level of mitochondrial autophagy regulatory proteins Pink1,Parkin,p62,LC3,mitochondrial biogenesis regulatory protein PGC1α,division/fusion regulatory proteins OPA1,MFN2,DRP1,p-DRP1 and antioxidant stress regulatory proteins Keap1 and Nrf2.HBAD-mcherry-EGFP-LC3 adenovirus transfected cells was used to observed the number of autophagosomes and autophagolysosomes.Results The results showed that the intracellular concentration of HN in PC12 in the Rot poisening group was significantly higher than that in the control group(P<0.05);Compared with the control group,the Rot poisening group had significantly decreased activity of PC12 cells,decreased ATP content and increased production of ROS.After the poisen of Rot in PC12 cells,the expression of Pink1 and p-Parkin,the ratio of LC3Ⅱ/LC3Ⅰ and the expression of p-DRP1 in mitochondrial fusion protein was increased,while the expression of p62,the expression of mitochondrial biogenesis protein PGC1 α,mitochondrial fusion proteins MFN2 and OPA1,and antioxidant stress proteins Keap1 and Nrf2 were decreased(all P<0.05).The number of autophagosomes and autophagolysosomes in PC12 cells in the Rot poisening group was higher than that in the control group(P<0.05),and HN pretreatment(20 μmol/L)could significantly improve the changes mentioned above caused by Rot poisening(P<0.05).Conclusion HN ameliorates Rot-induced toxic damage for dopamine neurons by inhibiting mitophagy and mitochondrial division and promoting mitochondrial biogenesis and fusion,and anti-oxidative stress.

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