检索结果-南通市图书馆

The Enlightenment of EU Real-World Evidence Supporting the Inclusion of rare disease Drugs in Medical Insurance Decisions to China

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Social Pharmacy 2021年第3期16卷 209-213页

作者： Yu Zhongyi Xu Fengxiang School of Business Administration Shenyang Pharmaceutical UniversityShenyang110016China Research Institute of Drug Regulatory Science Shenyang Pharmaceutical UniversityShenyang110016China

Objective To study the use of real-world evidence by EU and its member states for establishing a strategy for rare diseases and provide references for the inclusion of orphan drugs in China’s medical *** A case analysis method was used to introduce the EU’s decision to include rare disease drugs in medical insurance by using real-world evidence because clinical data of rare diseases were difficult to *** and Conclusion China can use real-world evidence to make medical insurance decisions based on the experience of the EU and continue to invest more in rare diseases,which can solve the problem of few drugs for patients with rare disease.

关键词： EU real-world evidence rare disease medical insurance

Exploiting fly models to investigate rare human neurological disorders

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

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

Molecular biomarkers,network biomarkers,and dynamic network biomarkers for diagnosis and prediction of rare diseases

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Fundamental Research 2022年第6期2卷 894-902页

作者： Shijie Tang Kai Yuan Luonan Chen Key Laboratory of Systems Biology Shanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China University of Chinese Academy of Sciences Beijing 100049China Shanghai Mental Health Center Shanghai Jiao Tong University School of MedicineShanghai 200030China Key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesChinese Academy of SciencesHangzhou 310024China West China Biomedical Big Data Center West China HospitalSichuan UniversityChengdu 610041China

The difficulty of converting scientific research findings into novel pharmacological treatments for rare and life-threatening diseases is *** related to multiple biological processes involved in cell growth,proliferation,and disease occurrence have been identified in recent years with the development of immunology,molecular biology,and genomics *** are capable of reflecting normal physiological processes,pathological processes,and the response to therapeutic intervention;as such,they play vital roles in disease diagnosis,prevention,drug response,and other aspects of *** discovery of valuable biomarkers has become a focal point of current *** studies have identified molecular biomarkers based on the differential expression/concentration of molecules(e.g.,genes/proteins)for disease state diagnosis,characterization,and *** technological breakthroughs in molecular analysis platforms have enabled the identification of a large number of candidate biomarkers for rare diseases,only a small number of these candidates have been properly validated for use in patient *** traditional molecular biomarkers may lose vital information by ignoring molecular associations/interactions,and thus the concept of network biomarkers based on differential associations/correlations of molecule pairs has been *** approach promises to be more stable and reliable in diagnosing disease ***,the newly-emerged dynamic network biomarkers(DNBs)based on differential fluctuations/correlations of molecular groups are able to recognize pre-disease states or critical states instead of disease states,thereby achieving rare disease prediction or predictive/preventative medicine and providing deep insight into the dynamic characteristics of disease initiation and progression.

关键词： rare disease Molecular biomarker Network biomarker Dynamic network biomarker Diagnosis Prognosis Prediction

Determinants and Equity Evaluation for Health Expenditure Among Patients with rare diseases in China

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2016年第12期129卷 1387-1393页

作者： Xiao-Xiong Xin Liang Zhao Xiao-Dong Guan Lu-Wen Shi Department of Pharmacy Administration and Clinical Pharmacy School of Pharmaceutical Sciences Peking University Health Science Center Peking University Beijing 100191 China International Research Center of Medicinal Administration Peking University Beijing 100191 China

Background： China has not established social security system for rare diseases. rare diseases could easily impoverish patients and their families. Little research has studied the equity and accessibility of health services for patients with rare diseases in China. This study aimed to explore the factors that influence health expenditure of rare diseases and evaluate its equity. Methods： Questionnaire survey about living conditions and cost burden of patients with rare diseases was conducted. Individual and family information, health expenditure and reimbursement in 2014 of 982 patients were collected. The impact of medical insurance, individual sociodemographic characteristics, family characteristics, and healthcare need on total and out-of-pocket （OOP） health expenditures was analyzed through the generalized linear model. Equity of health expenditure was evaluated by both concentration index and Lorenz curve. Results： Of all the surveyed patients, 11.41% had no medical insurance and 92.10% spent money to seek medical treatment in 2014. It was suggested female （P = 0.048）, over 50 years of age （P = 0.062）, high-income group （P = 0.021）, hospitalization （P- 0.000）, and reimbursement ratio （RR）（P = 0.000） were positively correlated with total health expenditure. diseases not needing long-term treatment （P = 0.000） was negatively correlated with total health expenditure. Over 50 years of age （P = 0.065）, high-income group （P = 0.018）, hospitalization （P = 0.000） and having Urban Employee Basic Medical Insurance （UEBMI）（P - 0.022） were positively correlated with OOP health expenditure. Patient or the head of the household having received higher education （P = 0.044 and P = 0.08 l） and reimbursement ratio （P = 0.078） were negatively correlated with OOP health expenditure. The equity evaluation found concentration indexes of health expenditure before and after reimbursement were 0.0550 and 0.0539, respectively. Conclusions： OOP health expenditure of patients with UEBMI

关键词： Determinant Equity Evaluation Health Expenditure rare disease

Enlightenment of COVID-19 Treated by Botanical Drugs on the Development of Drugs for rare diseases in China

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Asian Journal of Social Pharmacy 2023年第2期18卷 137-148页

作者： Li Qiao Wang Su Wang Aili Wu Di Chen Yuwen School of Business Administration Shenyang Pharmaceutical UniversityShenyang 10016China Affiliated Hospital of Liaoning University of Traditional Chinese Medicine Shenyang 110032China

Objective To study the feasibility of developing botanical drugs to treat intractable diseases and play an important role in dealing with major public health *** From January 1990 to May 2021,a bibliographic search was carried out on the use of botanical drugs,rare disease drugs,related registration management policies and regulations in PubMed and *** following keywords were searched in the database:rare disease policies and regulations,orphan drugs,botanical drugs for intractable diseases,botanical drugs for the treatment of new coronary pneumonia,traditional Chinese medicine,and emergency guidelines for major public health *** data were obtained from“Chinese Pharmacopoeia”and relevant Chinese government websites for sorting and *** and Conclusion Based on 39 Chinese corresponding policies and regulations,challenges and opportunities of developing and researching drugs for treating rare diseases were found out after the analysis and *** on the study of national policies on drugs for rare diseases,the priority review and approval procedures in the drug registration,as well as China’s emergency guidelines and policies for major public health events,some problems in the use of drugs for rare diseases are found ***,it is recommended to actively adopt the property rights protection system,explore the folk prescriptions of traditional Chinese medicine and the potential of hospital preparations,and the registration review strategy of giving priority to the use of botanical drugs for rare ***,the international status of botanical drugs for rare disease and the influence of responding to major public health events can be enhanced.

关键词： COVID-19 botanical drug intractable disease rare disease public health event

Induced Pluripotent Stem Cells from Urine:a New Option to Study Human rare diseases

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Induced Pluripotent Stem Cells from Urine:a New Option to St...

Medical care of rare and undiagnosed diseases:Prospects and challenges

第六届泛环渤海生物化学与分子生物学会学术交流会

作者： SHI Liang CUI Ya-Zhou LUAN Jing ZHOU Xiao-Yan HAN Jin-Xiang Key Laboratory for rare disease Research of Shandong Province Key Laboratory for Biotech Drugs of the Ministry of HealthShandong Medical Biotechnological CenterShandong Academy of Medical Sciences School of Medicine and Life Sciences University of Jinan-Shandong Academy of Medical Science

Human Induced pluripotent stem cells(iPSCs) have pluripotency and self-renewal in common with embryonic stem cells(ESCs),but are not associated with the ethical issues and immunological rejection which ESCs has *** addition,Human iPSCs could have been generated from a large variety of donor sources,such as skin fibroblasts,adipose stem cells,keratinocytes and peripheral ***,researchers have demonstrated that urine can reproducibly be used as an efficient cell source for generating iPSCs from nomal individuals or patients without undergoing invasive *** method is simple,safe,affordable and readily accepted by *** pluripotent stem cells,iPSCs can be directly differentiated into specific cell ***,rare diseases generally have not resulted in concise conclusions regarding the pathological mechanisms,in large part due to lack of applicable disease *** have successfully combined patient-specific iPSCs with directed differentiation,which could perform rare disease modeling in *** the recent progress in gene editing tools,the abundance of studies identified that gene editing could correct specific mutations in iPSCs for cell replacement therapy and introduce disease-causing mutations into iPSCs from healthy ***,gene editing would open up new avenues for investigating the molecular mechanism underlying rare diseases especially for which donor patients are not readily *** year will mark the first decade of the birth(2006) of reprogramming *** this review,we address that Urinary iPSCs(UiPSCs) could serve as a valuable platform for rare disease ***,we discuss the benefit of urine as donor source for generating ***,we review the successful establishment of rare disease modeling using UiPSCs,which could be further applied to cell replacement therapy combined with gene editing.

关键词： iPSCs urine cells rare disease gene editing

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Fundamental Research 2022年第6期2卷 851-858页

作者： Zhiyan Shan Lijun Ding Caiyun Zhu Ruijuan Sun Wei Hong Department of Health Sciences National Natural Science Foundation of ChinaBeijing 100085China Department of Histology and Embryology Harbin Medical UniversityHarbin 150081China Center for Reproductive Medicine and Obstetrics and Gynecology Affiliated Drum Tower Hospital of Nanjing University Medical SchoolNanjingJiangsu 210008China State Key Laboratory of Medical Molecular Biology Institute of Basic Medical SciencesChinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing 100005China

rare and undiagnosed diseases tend to be diverse,misdiagnosed,and difficult to *** some cases,the disease is progressive and ***,to date,an estimated 95%of rare diseases have no approved ***,rare and undiagnosed diseases are considered the ultimate challenges for understanding human ***,we review the research progress,research frontiers,and important scientific issues related to rare and undiagnosed *** mainly focus on five topics:(1)the identification and functional analysis of disease-causing genes;(2)the construction of cells,organoids,and animal models for mechanism validation;(3)subtyping and diagnosis;(4)treatment and drug screening based on causative genes and mutations;and(5)new technologies and methods for studying rare and undiagnosed *** this review,we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases.

关键词： rare disease Undiagnosed disease Gene Animal model Diagnosis Therapy

Unusual presentation of Loeys-Dietz syndrome:A case report of clinical findings and treatment challenges

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2022年第33期10卷 12247-12256页

作者： Shely Azrad-Daniel Corina Cupa-Galvan Sion Farca-Soffer Fernando Perez-Zincer Maria Elena Lopez-Acosta Department of Internal Medicine Hospital Angeles LomasHuixquilucan 52763Mexico Department of Radiology Hospital Angeles LomasMexico 52763Mexico Department of Hematology Hospital Angeles LomasMexico 52763Mexico Department of Gastroenterology-Endoscopy Hospital Angeles LomasMexico 52763Mexico

BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic *** was recently described in 2005,and today at least six different subtypes have been *** presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any *** differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection *** SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal *** tomography revealed vascular tortuosity in almost every abdominal *** This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these *** diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.

关键词： Loeys-Dietz syndrome Pulmonary embolism Gastrointestinal bleeding rare genetic disease Therapeutic angiography Unusual presentation rare disease Case report

SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2021年第2期23卷 157-162页

作者： Rossella Cannarella Michele Salemi Rosita A Condorelli Laura Cimino Giorgio Giurato Giovanna Marchese Angela Cordella Corrado Romano Sandro La Vignera Aldo E Calogero Department of Clinical and Experimental Medicine University of CataniaCatania 95123Italy Oasi Research Institute-IRCCS Troina(EN)94018Italy Genomix4Life Srl Department of MedicineSurgery and Dentistry“Schola Medica Salernitana”University of SalernoBaronissi(SA)84081Italy

Klinefelter syndrome(KS)is the most common sex chromosome disorder in *** is characterized by germ cell loss and other variable clinical features,including *** sex-determining region of Y(SRY)-box 13(Sox13)gene is expressed in mouse *** addition,it has been identified as islet cell autoantigen 12(ICA12),which is involved in the pathogenesis of autoimmune diseases,including type 1 diabetes mellitus(DM)and primary biliary ***13 expression has never been investigated in patients with *** this age-matched,case-control study performed on ten patients with KS and ten controls,we found that SOX13 is significantly downregulated in peripheral blood mononuclear cells of patients with KS compared to *** finding might be consistent with the germ cell loss typical of patients with ***,the role of SOX13 in the pathogenesis of germ cell loss and humoral autoimmunity in patients with KS deserves to be further explored.

关键词： germ cells intellectual disability Klinefelter syndrome rare disease sex-determining region of Y-box 13(SOX13)