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Exploiting fly models to investigate rare human neurological disorders

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Neural Regeneration Research 2025年第1期20卷 21-28页

作者： Tomomi Tanaka Hyung-Lok Chung Department of Neurology Houston Methodist Research InstituteHoustonTXUSA Department of Neurology Weill Cornell Medical CollegeNew YorkNYUSA

Rare neurological diseases,while individually are rare,collectively impact millions globally,leading to diverse and often severe neurological *** attributed to genetic mutations that disrupt protein function or structure,understanding their genetic basis is crucial for accurate diagnosis and targeted *** investigate the underlying pathogenesis of these conditions,researchers often use non-mammalian model organisms,such as Drosophila(fruit flies),which is valued for their genetic manipulability,cost-efficiency,and preservation of genes and biological functions across evolutionary *** tools available in Drosophila,including CRISPR-Cas9,offer a means to manipulate gene expression,allowing for a deep exploration of the genetic underpinnings of rare neurological *** boasts a versatile genetic toolkit,rapid generation turnover,and ease of large-scale experimentation,making it an invaluable resource for identifying potential drug *** can expose flies carrying disease-associated mutations to various compounds,rapidly pinpointing promising therapeutic agents for further investigation in mammalian models and,ultimately,clinical *** this comprehensive review,we explore rare neurological diseases where fly research has significantly contributed to our understanding of their genetic basis,pathophysiology,and potential therapeutic *** discuss rare diseases associated with both neuron-expressed and glial-expressed *** cases include mutations in CDK19 resulting in epilepsy and developmental delay,mutations in TIAM1 leading to a neurodevelopmental disorder with seizures and language delay,and mutations in IRF2BPL causing seizures,a neurodevelopmental disorder with regression,loss of speech,and abnormal *** we explore mutations in EMC1 related to cerebellar atrophy,visual impairment,psychomotor retardation,and gain-of-function mutations in ACOX1 causing Mitchell ***-of-fun

关键词： ACOX1 Drosophila melanogaster glia lipid metabolism model organisms neuroinflammation neurologic disorders neuron rare disease VLCFA

Malpractice or masterful practice?Navigating vicarious liability in healthcare

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World Journal of Clinical Cases 2025年第2期13卷 10-13页

作者： Satvik N Pai Naveen Jeyaraman Madhan Jeyaraman Swaminathan Ramasubramanian Department of Orthopaedics PES University Institute of Medical Sciences and ResearchBengaluru 560100KarnatakaIndia Department of Orthopaedics ACS Medical College and HospitalDr MGR Educational and Research InstituteChennai 600077Tamil NaduIndia Department of Orthopaedics Government Medical CollegeOmandurar Government EstateChennai 600002Tamil NaduIndia

In the intricate landscape of healthcare,vicarious liability looms large,shaping the responsibilities and actions of healthcare practitioners and administrators *** by a poignant scenario of a medication error,this article navigates the complexities of vicarious liability in *** explains the legal basis and ramifications of this theory,emphasizing its importance in fostering responsibility,protecting patient welfare,and easing access to *** paper explores the practical effects of vicarious responsibility on day-to-day operations,leadership practices,and decision-making processes via the eyes of senior consultants,junior doctors,and hospital *** comprehensive insights and real-world examples,it underscores the imperative of fostering a culture of accountability,communication,and quality care to navigate the intricate web of liabilities inherent in modern healthcare.

关键词： Vicarious liability Healthcare Responsibility Litigation Patient welfare

Literature study on traditional Chinese medicine syndromes after renal transplantation

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World Journal of Transplantation 2025年第1期15卷 150-155页

作者： Yun-Peng Guo Ling-Xue Bao Yu-Yang Wang Quan Wen Gai Hang Bo Chen Tongliao Clinical medical college Inner Mongolia Medical UniversityTongliao 028000Inner Mongolia Autonomous RegionChina Department of Urology Tongliao People's HospitalTongliao 028000Inner Mongolia Autonomous RegionChina

BACKGROUND Kidney transplantation is the most effective means to treat patients with renal failure,but its postoperative problems such as rejection reactions,immunosuppressant poisoning,chronic transplant kidney nephropathy,*** have not been effectively *** study searched for literature on traditional Chinese medicine(TCM)syndromes after kidney transplantation in China,conducted statistical analysis of the results,and sought to identify the underlying *** To understand the TCM syndromes after renal transplantation and associated rules and provide a theoretical basis for further clinical *** The literature pertaining to TCM syndromes in renal transplantation,published in the China National Knowledge Infrastructure,Wanfang database,and WIP database from 1970 to 2021,was meticulously searched and comprehensively and statistically *** Following the established inclusion and exclusion criteria,13 studies were selected for ***-renal transplantation,no significant discrepancy was noted among the groups based on the location of TCM ***,when categorized according to TCM pathogenic factors,the groups with spleen and kidney yang deficiency,as well as liver and kidney yin deficiency,exhibited a statistically significant difference in the *** Currently,the research on TCM syndromes pertaining to renal transplantation is in its nascent *** is imperative to conduct a multicentric,large-scale survey of TCM syndromes subsequent to renal transplantation in the ensuing years.

关键词： Kidney transplantation Syndrome Literature analysis Traditional Chinese medicine Systematic review

Regulatory mechanism of hormones of the pituitary-target gland axes in kidney-Yang deficiency based on a support vector machine model

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Journal of Traditional Chinese Medicine 2015年第2期35卷 238-243页

作者： Wang Xiufeng Zhang Lei Huang Rongbo Wu Qinghua Min Jianxin Ma Na Luo Laicheng college of basis Guangdong Pharmaceutical University college of Basic Medicine Jiangxi University of Traditional Chinese Medicine

OBJECTIVE:To study the development mechanism of kidney-Yang deficiency through the establishment of support vector machine models of relevant hormones of the pituitary-target gland axes in rats with kidney-Yang deficiency ***:The kidney-Yang deficiency rat model was created by intramuscular injection of hydrocortisone,and contents of the hormones of the pituita- ry-thyroid axis:thyroid stimulating hormone(TSH),3,3',5-triiodothyronine(T_3) and thyroxine(T_4);hormones of the pituitary-adrenal gland axis:adrenocorticotropic hormone(ACTH) and Cortisol(CORT);and hormones of the pituitary-gonadal axis:luteinizing hormone(LH),follicle-stimulating hormone(FSH),and testosterone(T),were determined in the early,middle,and advanced *** support vector regression(SVR) models of the hormones were established to analyze the mutual relationships among the hormones of the three ***:The feedback control action of the pituitary-adrenal axis began to lose efficacy from the middle stage of kidney-Kong *** contents all hormones of the three pituitary-target gland axes decreased in the advanced *** errors of the jackknife test of the SVR models all were less than 10%.CONCLUSION:Imbalances in mutual regulation among the hormones of the pituitary-target gland axes,especially loss of effectiveness of the pituitary-adrenal axis,is one pathogenesis of kidney-Yang *** SVR model can accurately reflect the complicated non-linear relationships among pituitary-target gland axes in rats with of kidney-Yang deficiency.

关键词： Kidney Yang deficiency Support vector regression machine Pituitary-thyroid axis Pituitary-adrenal axis Pituitary-gonadal axis

Pathogenesis, diagnosis, and treatment of epilepsy: electromagnetic stimulation-mediated neuromodulation therapy and new technologies

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Neural Regeneration Research 2025年第4期20卷 917-935页

作者： Dian Jiao Lai Xu Zhen Gu Hua Yan Dingding Shen Xiaosong Gu Academy of medical Engineering and Translational Medicine Tianjin UniversityTianjinChina Key Laboratory of Advanced Drug Delivery Systems of Zhejiang Province College of Pharmaceutical SciencesZhejiang UniversityHangzhouZhejiang ProvinceChina Affiliated Hospital of Nantong University NantongJiangsu ProvinceChina

Epilepsy is a severe,relapsing,and multifactorial neurological *** regarding the accurate diagnosis,prognosis,and in-depth pathogenesis are crucial for the precise and effective treatment of *** pathogenesis of epilepsy is complex and involves alterations in variables such as gene expression,protein expression,ion channel activity,energy metabolites,and gut microbiota *** results are lacking for conventional treatments for *** resection of lesions,drug therapy,and non-drug interventions are mainly used in clinical practice to treat pain associated with ***-pharmacological treatments,such as a ketogenic diet,gene therapy for nerve regeneration,and neural regulation,are currently areas of research *** review provides a comprehensive overview of the pathogenesis,diagnostic methods,and treatments of *** also elaborates on the theoretical basis,treatment modes,and effects of invasive nerve stimulation in neurotherapy,including percutaneous vagus nerve stimulation,deep brain electrical stimulation,repetitive nerve electrical stimulation,in addition to non-invasive transcranial magnetic stimulation and transcranial direct current *** studies have shown that electromagnetic stimulation-mediated neuromodulation therapy can markedly improve neurological function and reduce the frequency of epileptic ***,many new technologies for the diagnosis and treatment of epilepsy are being ***,current research is mainly focused on analyzing patients’clinical manifestations and exploring relevant diagnostic and treatment methods to study the pathogenesis at a molecular level,which has led to a lack of consensus regarding the mechanisms related to the disease.

关键词： diagnosis drug treatment electroencephalography epilepsy monitoring epilepsy nerve regeneration neurostimulation non-drug interventions pathogenesis prediction

Effect of Banxia Xiexin decoction on Helicobacter pylori-related peptic ulcers and its possible mechanism via the TGF-β/Smad signaling pathway

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Journal of Traditional Chinese Medicine 2018年第3期38卷 419-426页

作者： Chen Shaofang Liang Huiqing Chen Shaodong Huang Yanping Wan Shichuan Huang Yanxia Department of Clinical basis of Traditional Chinese Medicine College of Chinese Medicine Fujian University of Traditional Chinese Medicine Liver Disease Center Xiamen Hospital of Traditional Chinese Medicine Department of Traditional Chinese Medicine Medical College of Xiamen University

OBJECTIVE: To investigate the effect of Banxia Xiexin decoction(BXD) on Helicobacter pylori(Hp)-related peptic ulcers(PUs) and the possible mecha-nism underlying BXD actions via the transforming growth factor-β/small mothers against decapentaplegic(TGF-β/Smad) signaling ***: PU patients with cold-heat complex syndrome were randomly assigned to groups that received Chinese or Western medicines with 20 patients in each group. Serum was collected after 7 d of treatment. The healthy group included 20 individuals. Gastric mucosal epithelial cell line GES-1 was cultured in vitro and randomly divided into the following seven groups: control, model, healthy,Western Medicine, prior treatment, low dosage,and high dosage. After 72 h of treatment with the corresponding serum, the m RNA and protein expression levels of TGF-β1, Smad3, and Smad7 were measured by reverse transcription quantitative polymerase chain reaction and western blotting, ***: The m RNA expression levels of TGF-β1 and Smad3 in GES-1 cells were increased after Hp introduction, and these increased levels were reduced by the BXD-containing serum. The protein levels of p-Smad3, but not TGF-β1 or Smad3, were significantly increased in Hp-treated GES-1 cells,and treatment with the BXD-containing serum markedly decreased the protein levels. Smad7 expression was significantly enhanced following treatment with the BXD-containing serum at transcriptional and protein levels in a dose-dependent ***: BXD regulates the TGF-β/Smad signaling pathway by inhibiting the expression of TGF-β1 and Smad3, and increasing the expression of Smad7.

关键词： Helicobacter pylori Peptic ulcer Trans-forming growth factor beta Smad proteins Banxia Xiexin decoction human drug-containing serum

Transcriptome-wide analysis of PIP reductase gene family identified a phenylpropene synthase crucial for the biosynthesis of dibenzocyclooctadiene lignans in Schisandra chinensis

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Synthetic and Systems Biotechnology 2024年第1期9卷 78-87页

作者： Tingyan Qiang Yu Chen Bin Li Yuqing Dong Xueping Wei Jiushi Liu Bengang Zhang Haitao Liu Peigen Xiao State Key Laboratory of basis and New Drug Development of Natural and Nuclear Drugs Ministry of EducationInstitute of Medicinal Plant DevelopmentChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing100193China b college of Traditional Chinese Medicine Hebei UniversityBaoding071000China

Phenylpropenes,such as isoeugenol and eugenol,are produced as defend compounds,floral attractants,and flavor constituents by phenylpropene synthases belonging to the PIP reductase ***,isoeugenol is proposed to be involved in the biosynthesis of dibenzocyclooctadiene lignans,the main active compounds of Schisandra chinensis(Turcz.)***(SCF).***,a woody vine plant,is widely used for its medicinal,horticultural,edible,and economic *** this study,nine ScPIP genes were identified and characterized from the transcriptome datasets of *** expression profiles revealed that ScPIP genes were differentially expressed during different developmental stages of *** ScPIPs were selected and cloned as candidate genes encoding phenylpropene synthases according to phylogenetic ***1 was proved to function as isoeugenol synthase(IGS)and designated as ScIGS1 through in vivo functional characterization in Escherichia *** localization analysis demonstrated that ScIGS1 was localized in both the cytoplasm and *** three-dimensional(3D)model of ScIGS1 was obtained using homology ***-directed mutagenesis experiments revealed that the substitution of residues at positions 110 and 113 impacted the product specificity of ScIGS1 and the mutation of Lys157 to Ala abolishing catalytic ***,the kcat values of mutants were lower than that of ScIGS1 using a deep learning *** conclusion,this study provides a basis for further research on PIP reductases and the biosynthetic pathway of dibenzocyclooctadiene lignans.

关键词： Schisandra chinensis(Turcz.)baill. Dibenzocyclooctadiene lignans PIP reductase family Phenylpropenes Isoeugenol synthase

Weak Field-Induced Evolution of Spiral Wave in Small-World Networks of Hodgkin–Huxley Neurons

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Chinese Physics Letters 2012年第8期29卷 292-296页

作者： WANG Ya-Min LIU Yong WANG Jing LIU Yu-Rong School of Mathematical Science Yangzhou UniversityYangzhou 225002 basis Course of Lianyungang Technical college Lianyungang 222006 School of Mathematical Science Yancheng Teachers UniversityYancheng 224009

An external weak electric field is introduced into the small-world networks of Hodgkin–Huxley neurons to study the control and breakup of a spiral *** effect of an external electric field on the neurons in the small-world network is described by an additive perturbation on the membrane potentials of neurons at the cellular level,in which an additive term VE is imposed on the physiological membrane potential.A statistical factor of synchronization is used to measure the collective behaviour of spiral waves by changing the electric field;it is confirmed that a smaller factor of synchronization is associated with the survival of a spiral *** the case of no channel noise,the spiral wave could be removed under a certain intensity of constant electric field;it keeps robustly to the weak electric field when the electric field changes *** the case of weak channel noise,a breakup of the spiral wave is observed when the intensity of the electric field exceeds certain thresholds,which could be measured from the curve for synchronization *** drift of the spiral wave is observed under the weak electric field.

关键词： wave field additive

Current knowledge of Krüppel-like factor 5 and vascular remodeling: providing insights for therapeutic strategies

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Journal of Molecular Cell Biology 2021年第2期13卷 79-90页

作者： Ziyan Xie Junye Chen Chenyu Wang Jiahao Zhang Yanxiang Wu Xiaowei Yan Department of Cardiology Peking Union Medical College HospitalPeking Union Medical College&Chinese Academy of Medical SciencesBeijing 100730China Department of Vascular Surgery Peking Union Medical College HospitalPeking Union Medical College&Chinese Academy of Medical SciencesBeijing 100730China

Vascular remodeling is a pathological basis of various disorders. Therefore, it is necessary to understand the occurrence, prevention, and treatment of vascular remodeling. Krüppel-like factor 5 (KLF5) has been identified as a significant factor in cardiovascular diseases during the last two decades. This review provides a mechanism network of function and regulation of KLF5 in vascular remodeling based on newly published data and gives a summary of its potential therapeutic applications. KLF5 modulates numerous biological processes, which play essential parts in the development of vascular remodeling, such as cell proliferation, phenotype switch, extracellular matrix deposition, inflammation, and angiogenesis by altering downstream genes and signaling pathways. Considering its essential functions, KLF5 could be developed as a potent therapeutic target in vascular disorders.

关键词： Krüppel-like factor 5(KLF5) vascular remodeling inflammation angiogenesis drug development microRNA