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autism的本质理解及翻译问题研究

医学与哲学 2023年第20期44卷 36-40页

作者：韩许高陈栋高琳刘振南京中医药大学医学人文学院江苏南京210023 南京中医药大学附属医院康复科江苏南京210004 南京中医药大学医学院江苏南京210023

心理学概念autism有两个汉语译名:孤独症与自闭症。两个译名同时并用,造成了不同程度的混乱和误解。从词源学翻译及理论史双重视角看,autism的本质及合适译名不是孤独症,而是自闭症。孤独症是错误的意译,不符合autism的原始含义,易将其... 详细信息

心理学概念autism有两个汉语译名:孤独症与自闭症。两个译名同时并用,造成了不同程度的混乱和误解。从词源学翻译及理论史双重视角看,autism的本质及合适译名不是孤独症,而是自闭症。孤独症是错误的意译,不符合autism的原始含义,易将其本质误解为极度孤独或依恋障碍。自闭症译名更能反映autism的本义,更符合《精神障碍诊断与统计手册》诊断体系对autism的临床描述,即以自我封闭为根本特征的社交障碍。因此,学界应当放弃孤独症译名,只用自闭症来翻译和理解autism,以避免不正确的病因学解释及一词两译带来的其他问题。

关键词： autism 一词两译孤独症自闭症自我封闭

Assessment of family physicians’knowledge of childhood autism

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Family Medicine and Community Health 2017年第4期5卷 266-274页

作者： Hend Mikhail Salama Department of Family Medicine Faculty of MedicineSuez Canal UniversityIsmailiaEgypt

Objective:This study aimed to assess the knowledge of family physicians regarding child-hood autism.Methods:The study is a one-way cross-sectional descriptive study,conducted between Janu-ary and March 2017.The study involved 70 family physicians who were working and/or studying for a master degree in the School of Medicine,Suez Canal University.The researcher collected the sociodemographic characteristics,and then the participants completed the Knowledge about Child-hood autism among Healthcare Workers(KCAHW)questionnaire.Results:The total KCAHW score was 11.2±3.5(mean±standard deviation),the domain with the highest score was domain 1(5.6±1.8),and family physicians with previous experience had a higher mean score than physicians with no previous experience(12.9±2.7 and 10.7±3.5 respectively).In addition,there was a significant positive correlation between the mean KCAHW score and both the duration of practicing and earlier experience of autism.Conclusion:There is a lack of knowledge of autism among family physicians;they need more training on autism to increase their awareness to improve early detection and intervention so as to improve the quality of life and care of children with autism.

关键词： autism knowledge family physicians

Formulation, stability testing, and analytical characterization of melatonin-based preparation for clinical trial

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Journal of Pharmaceutical Analysis 2017年第4期7卷 237-243页

作者： Samira Filali Charlotte Bergamelli Mamadou Lamine Tall Damien Salmon Diane Laleye Carole Dhelens Elhadji Diouf Christine Pivot Fabrice Pirot Service pharmaceutique Plateforme FRIPHARMGroupement Hospitalier Edouard Herriot5 Place d′ArsonvalF-69437 Lyon Cedex 03France Laboratoire de Recherche et Développement de Pharmacie Galénique Industrielle Plateforme FRIPHARMFaculté de PharmacieLaboratoire de Biologie Tissulaire et Ingénierie Thérapeutique – UMR 5305Université Claude Bernard Lyon 18 Avenue RockefellerF-69373 Lyon Cedex 08France

A new institutional clinical trial assessed the improvement of sleep disorders in 40 children with autism treated by immediate-release melatonin formulation in different regimens(0.5 mg, 2 mg, and 6 mg daily) for one month. The objectives of present study were to(i) prepare low-dose melatonin hard capsules for pediatric use controlled by two complementary methods and(ii) carry out a stability study in order to determine a use-bydate. Validation of preparation process was claimed as ascertained by mass uniformity of hard capsules.Multicomponent analysis by attenuated total reflectance Fourier transformed infrared(ATR-FTIR) of melatonin/microcrystalline cellulose mixture allowed to identify and quantify relative content of active pharmaceutical ingredients and excipients. Absolute melatonin content analysis by high performance liquid chromatography in 0.5 mg and 6 mg melatonin capsules was 93.6% ± 4.1% and 98.7% ± 6.9% of theoretical value, respectively. Forced degradation study showed a good separation of melatonin and its degradation products. The capability of the method was 15, confirming a risk of false negative < 0.01%. Stability test and dissolution test were compliant over 18 months of storage with European Pharmacopoeia. Preparation of melatonin hard capsules was completed manually and melatonin in hard capsules was stable for 18 months, in spite of low doses of active ingredient. ATR-FTIR offers a real alternative to HPLC for quality control of highdose melatonin hard capsules before the release of clinical batches.

关键词： Melatonin Stability-indicating method High-performance liquid chromatography Multicomponent infrared analysis Clinical trial autism

Correlation of Gut Microbiome Between ASD Children and Mothers and Potential Biomarkers for Risk Assessment

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Genomics, Proteomics & Bioinformatics 2019年第1期17卷 26-38页

作者： Ning Li Junjie Yang Jiaming Zhang Cheng Liang Ying Wang Bin Chen Changying Zhao Jingwen Wang Guangye Zhang Dongmei Zhao Yi Liu Lehai Zhang Jun Yang Guimei Li Zhongtao Gai Lei Zhang Guoping Zhao Shandong Children's Microbiome Center Qilu Children's Hospital of Shandong University Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong University Institute of Child Health Care Qilu Children's Hospital of Shandong University School of Information Science and Engineering Shandong Normal University Research Institute of Pediatrics Qilu Children's Hospital of Shandong University Beijing Advanced Innovation Center for Big Data-Based Precision Medicine Beihang University College of Life Science Qilu Normal University School of Chemistry Beihang University CAS Key Laboratory of Synthetic Biology Shanghai Institutes for Biological Sciences Chinese Academy of Sciences

Variation of maternal gut microbiota may increase the risk of autism spectrum disorders(ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother–child pairs of ASD children and 30 matched mother–child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother–child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.

关键词： autism spectrum disorders Gut microbiome Biomarker Mother-child pair Microbiota-gut-immunebrain axis

Adenylate cyclase activator forskolin alleviates intracerebroventricular propionic acid-induced mitochondrial dysfunction of autistic rats

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Neural Regeneration Research 2020年第6期15卷 1140-1149页

作者： Sidharth Mehan Saloni Rahi Aarti Tiwari Tarun Kapoor Kajal Rajdev Ramit Sharma Himanshi Khera Sourabh Kosey Umesh Kukkar Rajesh Dudi Department of Neuropharmacology ISF College of PharmacyMogaPunjabIndia Department of Pharmacology Rajendra Institute of Technology&SciencesSirsaHaryanaIndia Pharmacology Division CSIR-Indian Institute of Integrative MedicineJammuIndia

Neuronal mitochondrial dysfunction increases inflammatory mediators and leads to free radical generation and anti-oxidant enzymatic alterations,which are major neuropathological hallmarks responsible for autism.Mitochondrial dysfunction in autism is associated with decreased ATP levels due to reduced levels of cyclic adenosine monophosphate.Rat models of autism were established by intracerebroventricular injection of propionic acid.These rat models had memory dysfunction,decreased muscle coordination and gait imbalance.Biochemical estimation of propionic acid-treated rats showed changes in enzyme activity in neuronal mitochondrial electron transport chain complexes and increases in pro-inflammatory cytokines,oxidative stress and lipid biomarkers.Oral administration of 10,20 and 30 mg/kg adenylate cyclase activator forskolin for 15 days reversed these changes in a dose-dependent manner.These findings suggest that forskolin can alleviate neuronal mitochondrial dysfunction and improve neurological symptoms of rats with autism.This study was approved by the RITS/IAEC,SIRSA,HARYANA on March 3,2014(approval No.RITS/IAEC/2014/03/03).

关键词： adenylate cyclase ATP autism forskolin mitochondrial dysfunction neuroinflammation oxidative stress propionic acid

Modeling neuropsychiatric disorders using human induced pluripotent stem cells

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Protein & Cell 2020年第1期11卷 45-59页

作者： Meiyan Wang Lei Zhang Fred H.Gage Laboratory of Genetics The Salk Institute for Biological Studies10010 N.Torrey Pines RdLa JollaCA 92037USA Neurobiology Section Division of Biological SciencesUniversity of California San DiegoLa JollaCA 92093USA

Neuropsychiatric disorders are complex disorders characterized by heterogeneous genetic variations,variable symptoms,and widespread changes in anatomical pathology.In the context of neuropsychiatric disorders,limited access to relevant tissue types presents challenges for understanding disease etiology and developing effective treatments.Induced pluripotent stem cells(iPSCs)reprogrammed from patient somatic cells offer an opportunity to recapitulate disease development in relevant cell types,and they provide novel approaches for understanding disease mechanisms and for development of effective treatments.Here we review recent progress and challenges in differentiation paradigms for generating disease-relevant cells and recent studies of neuropsychiatric disorders using human pluripotent stem cell(hPSC)models where cellular phenotypes linked to disease have been reported.The use of iPSC-based disease models holds great promise for understanding disease mechanisms and supporting discovery of effective treatments.

关键词： neuropsychiatric disorders iPSCs brain organoid schizophrenia autism spectrum disorder bipolar disorder

Circular RNAs in early brain development and their influence and clinical significance in neuropsychiatric disorders

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Neural Regeneration Research 2020年第5期15卷 817-823页

作者： Chuan-Jun Zhuo Wei-Hong Hou De-Guo Jiang Hong-Jun Tian Li-Na Wang Feng Jia Chun-Hua Zhou Jing-Jing Zhu Department of Psychiatry and Genetics School of Mental HealthJining Medical UniversityJiningShandong ProvinceChina Department of Psychiatry and Molecular Psychiatry Wenzhou Seventh People’s HospitalWenzhouZhejiang ProvinceChina Department of Psychiatry and Imaging-Genetics and Co-morbidity (PNGC-Lab) Tianjin Anding HospitalTianjin Mental Health CenterMental Health Teaching HospitalTianjin Medical UniversityDepartment of PsychiatrySchool of Basic Medical ResearchTianjin Medical UniversityTianjinChina Department of Biochemistry and Molecular Biology Medical College of Zhengzhou UniversityZhengzhouHenan ProvinceChina Department of Biology University of North Carolina at CharlotteCharlotteNCUSA Department of Pharmacy First Hospital of Hebei Medical UniversityShijiazhuangHebei ProvinceChina

Neuropsychiatric disorders represent a set of severe and complex mental illnesses,and the exact etiologies of which are unknown.It has been well documented that impairments in the early development of the brain contribute to the pathogenesis of many neuropsychiatric disorders.Currently,the diagnosis of neuropsychiatric disorders largely relies on subjective cognitive assessment,because there are no widely accepted biochemical or genetic biomarkers for diagnosing mental illness.Circular RNAs (circRNAs) are a novel class of endogenous non-coding RNA (ncRNA) with a closed-loop structure.In recent years,there have been tremendous advances in our understanding of the expression profiles and biological roles of circRNAs.In the brain,circRNAs are particularly enriched and are expressed more abundantly in contrast to linear counterpart transcripts.They are highly active at neuronal synapses.These features make circRNAs uniquely crucial for understanding brain health,disease,and neuropsychiatric disorders.This review focuses on the role of circRNAs in early brain development and other brain-related processes that have been associated with the development of neuropsychiatric disorders.In addition,we discuss the potential for blood or cerebrospinal fluid circRNAs to be used as novel biomarkers in the early diagnosis of neuropsychiatric disorders.The findings reviewed here may provide new insight into the pathological mechanisms underlying the onset and progression of neuropsychiatric disorders.

关键词： autism spectrum disorders bipolar disorder brain exosomal circRNAs microRNAs nerve regeneration non-coding RNAs obsessive-compulsive disorders schizophrenia

Ndfip1 represses cell proliferation by controlling Pten localization and signaling specificity

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分子细胞生物学报:英文版 2015年第2期7卷 119-131页

作者： Jason Howitt Ley-Hian Low Ulrich Putz Anh Doan Jenny Lackovic Choo-Peng Goh Jenny Gunnersen John Silke Seong-Seng Tan Brain Development and Regeneration Division Florey Institute of Neuroscience and Mental HealthThe University of MelbourneParkvilleVictoria 3010Australia Department of Anatomy and Neuroscience The University of MelbourneParkvilleVictoria 3010Australia Cell Signalling and Cell Death Laboratory Walter and Eliza Hall InstituteThe University of MelbourneParkvilleVictoria 3010Australia

Pten controls a signaling axis that is implicated to regulate cell proliferation,growth,survival,migration,and metabolism.The molecular mechanisms underlying the specificity of Pten responses to such diverse cellular functions are currently poorly understood.Herewe report the control of Pten activity and signaling specificity during the cell cycle by Ndfip1 regulation of Pten spatial distribution.Genetic deletion of Ndfip1 resulted in a loss of Pten nuclear compartmentalization and increased cell proliferation,despite cytoplasmic Pten remaining active in regulating PI3K/Akt signaling.Cells lacking nuclear Pten were found to have dysregulated levels of Plk1 and cyclin D1 that could drive cell proliferation.In vivo,transgene expression of Ndfip1 in the developing brain increased nuclear Pten and lengthened the cell cycle of neuronal progenitors,resulting in microencephaly.Our results show that local partitioning of Pten from the cytoplasm to the nucleus represents a key mechanism contributing to the specificity of Pten signaling during cell proliferation.

关键词： Akt autism cancer cell cycle microcephaly nuclear trafficking ubiquitin

The Epigenetic Switches for Neural Development and Psychiatric Disorders

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Journal of Genetics and Genomics 2013年第7期40卷 339-346页

作者： Jingwen Lv Yongjuan Xin Wenhao Zhou Zilong Qiu Department of Neonatology Children's Hospital of Fudan University Institute of Neuroscience Shanghai Institute of Biological SciencesChinese Academy of Sciences

The most remarkable feature of the nervous system is that the development and functions of the brain are largely reshaped by postnatal experiences, in joint with genetic landscapes. The nature vs. nurture argument reminds us that both genetic and epigenetic information is indispensable for the normal function of the brain. The epigenetic regulatory mechanisms in the central nervous system have been revealed over last a decade. Moreover, the mutations of epigenetic modulator genes have been shown to be implicated in neuropsychiatric disorders, such as autism spectrum disorders. The epigenetic study has initiated in the neuroscience field for a relative short period of time. In this review, we will summarize recent discoveries about epigenetic regulation on neural development, synaptic plasticity, learning and memory, as well as neuropsychiatric disorders. Although the comprehensive view of how epigenetic regulation contributes to the function of the brain is still not completed, the notion that brain, the most complicated organ of organisms, is profoundly shaped by epigenetic switches is widely accepted.

关键词： DNA methylation Adult neurogenesis Neural plasticity Learning and memory autism Depression