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PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

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Chinese Medical Journal 2006年第20期119卷 1749-1752页

作者： siu-fong june or Ming-for Tony Tong Fai-Man Ivan Lo Chi-Wai Law Ting-Yat Miu Delphine Trochet Tak-Sum Stephen Lam Clinical Genetic Service Department of Health Hong Kong SAR China Department of Paediatrics Queen Elizabeth Hospital Hong Kong SAR China Department de Genetique Hospital Necker-Enfants Malades Paris France

Congenital central hypoventilation syndrome （CCHS, OMIM #209880） is a rare autosomal dominant disorder of the autonomic nervous system （ANS） characterized by an abnormal autonomic ventilatory response to progressive hypercarbia and sustained hypoxemia. Patients typically present in the newborn period with hypoventilation or apnea asleep, awake, or both, without any associated cardiac, pulmonary, neuromuscular or brainstem lesions. Rarely, some patients may present at a later age and are diagnosed to have late onset central hypoventilation syndrome （LOCHS）.1 Other features of ANS dysfunction such as feeding difficulty due to oesophageal dysmotility, severe constipation in the absence of Hirschsprung disease, poor regulation of basal body temperature, episodes of profuse sweating, pupillary and ocular abnormalities, decreased beat-to-beat variability of heart rate, attenuated response of heart rate to exercise, abnormal fluctuation of blood pressure, decreased perception to pain, and decreased perception to anxiety may be variably present but not essential for diagnosis Furthermore, this central hypoventilation can occur as an isolated feature or in association with a number of neurocristopathies, notably Hirschsprung disease （Haddad syndrome, OMIM #209880） and tumours of the sympathetic nervous system particularly neuroblastoma, ganglioneuro- blastoma, and ganglioneuroma, which were found in 20% and 5%--10% of CCHS patients, respectively.2 Studies of genes pertinent to the early embryologic development of the neural crest cells, specifically the endothelin and the RET-GDNF signaling pathways, have recently led to the identification of PHOX2B as the major disease causing gene for CCHS.2-6 PHOX2B was mapped to chromosome 4p12 and consists of 3 exons. It encodes a highly conserved paired-like homeobox transcription factor of 314 amino acids linked to the RET-GDNF signaling

关键词： congenital central hypoventilation syndrome PHOX2B Chinese mutation

A pipeline to characterize p53 effectors by integrative cistrome and transcriptome analysis in a genetically-defined organoid model

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Genes & Diseases 2024年第2期11卷 512-515页

作者： june-Ha Shin Hwa-Ryeon Kim Jae-Seok Roe Department of Biochemistry College of Life Science and BiotechnologyYonsei UniversitySeoul 120-749Republic of Korea

Tumor-protein 53(p53)is a transcription factor(TF)encoded by TP53(Trp53 in mice)and is a master regulator of tumor-suppressive programs'.Importantly,TP53 is the most frequently mutated gene in human cancer,and its loss of function contributes to tumor development,exemplified by variable p53 mutations detected in 50%-75%of pancreatic cancers.2 From these perceptions,a number of targets transcribed by p53 that confer tumor suppression have been ***,our understanding of how p53 prevents normal cells from initiating tumorigenesis is still *** complement this limitation,herein,we established a new approach to identify underlying effectors transcribed by p53 in normal physiology.

关键词： incomplete initiating herein

Fortifying Smart Grids: A Holistic Assessment Strategy against Cyber Attacks and Physical Threats for Intelligent Electronic Devices

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Computers, Materials & Continua 2024年第8期80卷 2579-2609页

作者： Yangrong Chen june Li Yu Xia Ruiwen Zhang Lingling Li Xiaoyu Li Lin Ge School of Computer Science Zhengzhou University of AeronauticsZhengzhou450046China Henan Xin’an Century Technology Co. Ltd.Henan Data Security Engineering Technology Research CenterZhengzhou450046China Key Laboratory of Aerospace Information Security and Trusted Computing Ministry of EducationSchool of Cyber Science and EngineeringWuhan UniversityWuhan430072China

Intelligent electronic devices(IEDs)are interconnected via communication networks and play pivotal roles in transmitting grid-related operational data and executing control *** the context of the heightened security challenges within smart grids,IEDs pose significant risks due to inherent hardware and software vulner-abilities,as well as the openness and vulnerability of communication *** grid security,distinct from traditional internet security,mainly relies on monitoring network security events at the platform layer,lacking an effective assessment mechanism for ***,we incorporate considerations for both cyber-attacks and physical faults,presenting security assessment indicators and methods specifically tailored for ***,we outline the security monitoring technology for IEDs,considering the necessary data sources for their security ***,we classify IEDs and establish a comprehensive security monitoring index system,incorporating factors such as running states,network traffic,and abnormal *** index system contains 18 indicators in 3 ***,we elucidate quantitative methods for various indicators and propose a hybrid security assessment method known as GRCW-hybrid,combining grey relational analysis(GRA),analytic hierarchy process(AHP),and entropy weight method(EWM).According to the proposed assessment method,the security risk level of IEDs can be graded into 6 levels,namely 0,1,2,3,4,and *** higher the level,the greater the security ***,we assess and simulate 15 scenarios in 3 categories,which are based on monitoring indicators and real-world situations encountered by *** results show that calculated security risk level based on the proposed assessment method are consistent with actual ***,the reasonableness and effectiveness of the proposed index system and assessment method are validated.

关键词： Smart grid intelligent electronic device security assessment abnormal behaviors network traffic running states

[001]-texturing of(K,Na)NbO_(3)-based piezoceramics with a pseudocubic structure and their application to piezoelectric devices

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Journal of Materiomics 2024年第3期10卷 632-642页

作者： Su-Hwan Go Seok-Jung Park Seung-Hyun Kim Seok-june Chae Eun-Ji Kim Geun-Su Lee Sahn Nahm Department of Materials Science and Engineering Korea UniversitySeoul02841Republic of Korea

0.96(K_(0.5)Na_(0.5-z)Li_(z))(Nb_(0.92)Sb_(0.08))O_(3)-0.04(Ca_(0.5)Sr_(0.5))ZrO_(3)[(KN_(0.5-z)L_(z))NS-CSZ]piezoceramics(0≤z≤0.04)were aligned in the[001]orientation using 3%(in mole)NaNbO_(3)templates with a large Lotgering factor(>97%).Their crystal structures transformed from the orthorhombic-pseudocubic(O-P)structure to the orthorhombic-tetragonal-pseudocubic(O-T-P)structure with an increasing *** P structure was interpreted as a rhombohedral R3m *** piezoelectricity of the compositions increased after[001]-texturing,and the enhancement was proportional to the O phase *** composition(z=0.03)exhibited the highest piezoelectric constant(d_(33);670 pC/N)and electromechanical coupling factor(k_(p);0.56).Piezoelectric energy harvesters were produced using the untextured and textured samples(z=0.03).The textured harvester delivered a large power density of 26.6 mW/mm^(3),which was larger than that of the untextured harvester owing to the enhanced kp and d_(33)×g_(33) of the textured piezoceramic.A multilayer actuator was produced using the textured sample(z=0.03),and it exhibited a large acceleration(44.2 G)and displacement(±3,730 mm)at±25 ***,the[001]-textured(KN_(0.47)L_(0.03))NS-CSZ piezoceramic is suitable for piezoelectric energy harvesters and actuators.

关键词： KNN-Based piezoceramic Lead-free Energy harvester Actuator Reactive template grain growth

Etanercept-synthesizing adipose-derived stem cell secretome:A promising therapeutic option for inflammatory bowel disease

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World Journal of Gastrointestinal Surgery 2024年第3期16卷 882-892页

作者： Say-june Kim Ok-Hee Kim Ha-Eun Hong Ji Hyeon Ju Do Sang Lee Department of Surgery Seoul St.Mary’s HospitalCollege of Medicinethe Catholic University of KoreaSeoul 06591South Korea Catholic Central Laboratory of Surgery Institute of Biomedical IndustryCollege of Medicinethe Catholic University of KoreaSeoul 06591South Korea Division of Rheumatology Department of Internal MedicineSeoul St.Mary’s HospitalCollege of MedicineThe Catholic University of KoreaSeoul 06591South Korea

BACKGROUND Inflammatory bowel disease(IBD)is a chronic inflammatory condition of the gastrointestinal tract,with tumor necrosis factor(TNF)-αplaying a key role in its ***,a decoy receptor for TNF,is used to treat inflammatory *** secretome derived from adipose-derived stem cells(ASCs)has anti-inflammatory effects,making it a promising therapeutic option for *** To investigate the anti-inflammatory effects of the secretome obtained from ASCs synthesizing etanercept on colon cells and in a dextran sulfate sodium(DSS)-induced IBD mouse *** ASCs were transfected with etanercept-encoding mini-circle plasmids to create etanercept-producing *** secretory material from these cells was then tested for anti-inflammatory effects both in vitro and in a DSS-induced IBD mouse *** This study revealed promising results indicating that the group treated with the secretome derived from etanercept-synthesizing ASCs[Etanercept-Secretome(Et-Sec)group]had significantly lower expression levels of inflammatory mediators,such as interleukin-6,Monocyte Chemoattractant Protein-1,and TNF-α,when compared to the control secretome(Ct-Sec).Moreover,the Et-Sec group exhibited a marked therapeutic effect in terms of preserving the architecture of intestinal tissue compared to the *** These results suggest that the secretome derived from ASCs that synthesize etanercept has potential as a therapeutic agent for the treatment of IBD,potentially enhancing treatment efficacy by merging the anti-inflam-matory qualities of the ASC secretome with etanercept's targeted approach to better address the multifaceted pathophysiology of IBD.

关键词： Adipose-derived stem cells Etanercept Inflammatory bowel disease Secretome Tumor necrosis factor-α

Desialylated Platelet Clearance in the Liver is a Novel Mechanism of Systemic Immunosuppression

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Research 2024年第3期2023卷 35-50页

作者： june Li Danielle Karakas Feng Xue Yingyu Chen Guangheng Zhu Yeni H.Yucel Sonya A.MacParland Haibo Zhang John W.Semple John Freedman Qizhen Shi Heyu Ni Department of Laboratory Medicine and Pathobiology University of TorontoTorontoONCanada Toronto Platelet Immunobiology Group TorontoONCanada Keenan Research Centre for Biomedical Science of St.Michael's Hospital TorontoONCanada Canadian Blood Services Centre for Innovation TorontoONCanada Departments of Pediatrics Medical College of WisconsinMilwaukeeWIUSA Blood Research Institute Versiti WisconsinMilwaukeeWIUSA Departments of Ophthalmology and Vision Sciences Medicine University of TorontoTorontoONCanada Faculty of Engineering and Architectural Science Ryerson UniversityTorontoONCanada Multi-Organ Transplant Program Toronto General Hospital Research InstituteTorontoONCanada Department of Immunology University of TorontoTorontoONCanada Critical Care Medicine Department ofAnesthesiology and PainUniversity of TorontoTorontoONCanada Department of Physiology University of TorontoTorontoONCanada Department of Pharmacology University of TorontoTorontoONCanada. Division of Hematology and Transfusion Medicine Lund UniversityLundSweden clinical Immunology and Transfusion Medicine Ofice of Medical ServicesRegion SkaneLundSweden Department of Medicine University of TorontoTorontoONCanada Children's Research Institute Children's WisconsinWauwatosaWIUSA Midwest Athletes Against Childhood Cancer Fund Research Center MilwaukeeWIUSA.

Platelets are small, versatile blood cells that are critical for hemostasis/thrombosis. Local platelet accumulation is a known contributor to proinflammation in various disease states. However, the anti-inflammatory/immunosuppressive potential of platelets has been poorly explored. Here, we uncovered, unexpectedly, desialylated platelets (dPLTs) down-regulated immune responses against both platelet-associated and -independent antigen challenges. Utilizing multispectral photoacoustic tomography, we tracked dPLT trafficking to gut vasculature and an exclusive Kupffer cell-mediated dPLT clearance in the liver, a process that we identified to be synergistically dependent on platelet glycoprotein Ibα and hepatic Ashwell–Morell receptor. Mechanistically, Kupffer cell clearance of dPLT potentiated a systemic immunosuppressive state with increased anti-inflammatory cytokines and circulating CD4+ regulatory T cells, abolishable by Kupffer cell depletion. Last, in a clinically relevant model of hemophilia A, presensitization with dPLT attenuated anti-factor VIII antibody production after factor VIII ( infusion. As platelet desialylation commonly occurs in daily-aged and activated platelets, these findings open new avenues toward understanding immune homeostasis and potentiate the therapeutic potential of dPLT and engineered dPLT transfusions in controlling autoimmune and alloimmune diseases.

关键词： Platelet transfusion homeostasis

Is a Mini-Screen for Fetal Alcohol Spectrum Disorder Feasible?

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Open Journal of Pediatrics 2024年第4期14卷 767-781页

作者： Tyler Mueller Devin Evavold june-Yung Kim Marilyn G. Klug Larry Burd School of Medicine and Health Sciences University of North Dakota Grand Forks USA Department of Social Work University of North Dakota Grand Forks USA

Background: Fetal Alcohol Spectrum Disorders (FASDs) are a global public health concern with lifelong consequences for affected individuals. Recent prevalence studies suggest FASD prevalence rates range from 1-5% among school age children. Most people with FASD are not correctly diagnosed and inadequate screening to identify patients with increased risk may contribute to under-diagnosis. This study developed a 10-item screening tool for FASD and examined its feasibility. Methods: The sample consisted of 355 children who had been evaluated at an FASD clinic. Data from the 33-item Alcohol Related Neurodevelopmental Disorder Behavioral Checklist was used to develop a brief FASD screen by comparing the changes in Cronbach’s alpha for different combinations of items. The validity of the brief scale was then further examined using receiving operating characteristic analyses. Results: The 10-item screen demonstrated acceptable sensitivity, specificity, and accuracy to identify children at high risk for FASD. The percentage correctly classified was 91.3 and the area under the receiving operating characteristic curve was 0.971. Conclusions: This feasibility study demonstrated that a screen for FASD consisting of 10 items with yes or no responses can be completed in 3 - 4 minutes. The tool is brief, with a low administration burden and has acceptable epidemiologic performance characteristics including accuracy. Future research should examine the performance of this tool when used in larger, community-based populations where screening for FASD would be appropriate.

关键词： Fetal Alcohol Spectrum Disorders (FASDs) Children Screening Prevalence

Immune remodulation in pediatric inherited metabolic liver diseases

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World Journal of Hepatology 2024年第9期16卷 1258-1268页

作者： Yi-Chi Wu Xue-Lin Xiang june-Kong Yong Meng Li Lin-Man Li Zi-Cheng Lv Yi Zhou Xi-Cheng Sun Zi-Jie Zhang Huan Tong Xiao-Ying He Qiang Xia Hao Feng Department of Liver Surgery Renji Hospital(Punan Branch)School of MedicineShanghai Jiao Tong UniversityShanghai 200127China Department of Liver Surgery Renji HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200127China Department of Liver Surgery Renji Hospital Affiliated to Shanghai Jiao Tong UniversityShanghai Institute of TransplantationShanghai Engineering Research Center of Transplantation and ImmunologyShanghai 200127China Department of Gynecology Shanghai First Maternity and Infant HospitalShanghai 200012China

Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric *** spectrum of genetic metabolic liver disorders is diverse,encompassing a range of conditions associated with aberrations in iron,copper,carbohydrate,lipid,protein,and amino acid ***,research in the domain of genetic metabolic liver diseases has predominantly concentrated on hepatic parenchymal cell ***,emerging studies suggest that inherited metabolic liver diseases exert significant influences on the immune microenvironment,both within the liver and *** review endeavors to encapsulate the immunological features of genetic metabolic liver diseases,aiming to expand the horizons of researchers in this discipline,and to elucidate the underlying pathophysiological mechanisms pertinent to hereditary metabolic liver diseases and to propose innovative therapeutic approaches.

关键词： Liver transplantation Inherited metabolic liver diseases Immune microen-vironment Genetic metabolic liver diseases Immunotherapy

2024年1—6月中国电子竞技产业发展概况分析——基于《2024年1—6月中国电子竞技产业报告》数据

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中国数字出版

中国数字出版 2024年第5期2卷 52-56页

作者： Report of China’s Electronic Sports Industryfrom January to june 2024 research group 《2024年1—6月中国电子竞技产业报告》项目组

中国电子竞技行业坚持贯彻落实党的二十大精神，积极学习并践行习近平文化思想，追求高质量发展。当前我国拥有全球数量最多的电竞用户，经营收入稳居世界前列。2024年1—6月，中国电子竞技产业实销收入120.27亿元，同比增长4.43%，扭... 详细信息

中国电子竞技行业坚持贯彻落实党的二十大精神，积极学习并践行习近平文化思想，追求高质量发展。当前我国拥有全球数量最多的电竞用户，经营收入稳居世界前列。2024年1—6月，中国电子竞技产业实销收入120.27亿元，同比增长4.43%，扭转了此前连续两年同比下降趋势。多地政府相继出台电子竞技产业扶持政策，目标清晰、布局合理，致力于推动产业生态的建设与完善，促进电子竞技产业高质量发展。中国电竞行业向世界展示了风采。

关键词：电子竞技产业中国电竞数据统计《2024年1—6月中国电子竞技产业报告》