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The evolution of cancer genomic medicine in Japan and the role of the National Cancer center Japan

Cancer Biology & Medicine 2024年第1期21卷 29-44页

作者： Teruhiko Yoshida Yasushi Yatabe Ken Kato Genichiro Ishii Akinobu Hamada Hiroyuki Mano Kuniko Sunami Noboru Yamamoto Takashi Kohno Department of Genetic Medicine and Services National Cancer Center HospitalTokyo 104-0045Japan Department of Diagnostic Pathology National Cancer Center HospitalTokyo 104-0045Japan Clinical research Support Offce Clinical Research Coordinating SectionBiobank Translational Research Support SectionNational Cancer Center HospitalTokyo 104-0045Japan Department of Pathology and Clinical Laboratories National Cancer Center Hospital EastChiba 277-8577Japan Division of Molecular Pharmacology National Cancer Center Research InstituteTokyo 104-0045Japan National Cancer center research Institute Tokyo 104-0045Japan Department of Laboratory Medicine National Cancer Center HospitalTokyo 104-0045Japan Department of Experimental Therapeutics National Cancer Center HospitalTokyo 104-0045Japan Division of Genome Biology National Cancer Center Research InstituteTokyo 104-0045Japan

The journey to implement cancer genomic medicine(CGM)in oncology practice began in the 1980s,which is considered the dawn of genetic and genomic cancer *** the time,a variety of activating oncogenic alterations and their functional significance were unveiled in cancer cells,which led to the development of molecular targeted therapies in the 2000s and *** CGM is still a relatively new discipline and it is difficult to predict to what extent CGM will benefit the diverse pool of cancer patients,the National Cancer center(NCC)of Japan has already contributed considerably to CGM advancement for the conquest of *** back at these past achievements of the NCC,we predict that the future of CGM will involve the following:1)A biobank of paired cancerous and non-cancerous tissues and cells from various cancer types and stages will be *** quantity and quality of these samples will be compatible with omics *** biobank samples will be linked to longitudinal clinical information.2)New technologies,such as whole-genome sequencing and artificial intelligence,will be introduced and new bioresources for functional and pharmacologic analyses(e.g.,a patient-derived xenograft library)will be systematically deployed.3)Fast and bidirectional translational research(bench-to-bedside and bedside-to-bench)performed by basic researchers and clinical investigators,preferably working alongside each other at the same institution,will be implemented;4)Close collaborations between academia,industry,regulatory bodies,and funding agencies will be established.5)There will be an investment in the other branch of CGM,personalized preventive medicine,based on the individual's genetic predisposition to cancer.

关键词： Cancer genomic medicine biobank patient-derived xenograft multi-gene panel test whole genome sequencing

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Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study

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World Journal of Pediatrics 2024年第5期20卷 517-524页

作者： Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan Shen Hao Li Ji-Wen Wang Department of Neurology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Infectious Diseases Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Clinical research Ward Clinical Research CenterShanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency *** Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome *** analyzed the patients’convulsions and treatment with antiepileptic *** patients were followed up at different time periods after ketogenic diet *** Six patients with SLC2A1 mutations were included in this *** patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their *** were then treated with a ketogenic diet for at least four *** analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet *** patients were seizure-free within a month of receiving the diet *** patients were followed up for six months,three were followed up for 12 months after the treatment,and there was no recurrence of epilepsy during this *** antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment *** severe adverse events occurred during the *** Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 ***,patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.

关键词： Epilepsy Glucose transporter type 1 Ketogenic diet SLC2A1

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Synthesis of boron nitride nanorod and its performance as a metalfree catalyst for oxidative desulfurization of diesel fuel

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Chinese Journal of Chemical Engineering 2024年第4期68卷 120-132页

作者： Tanaz Ghanadi Gholamreza Moradi Alimorad Rashidi Catalyst research center Faculty of Chemical and Petroleum EngineeringRazi UniversityKermanshahIran Nanotechnology research center Research Institute of Petroleum Industry(RIPI)TehranIran

In order to reduce the sulfur compounds in diesel fuel,boron nitride(BN)has been used as a novel metal-free catalyst in the present *** nanocatalyst was synthesized via template-free approach followed by heating treatment at 900℃ in nitrogen atmosphere that the characteristics of the sample were identified by the X-ray diffraction,Fourier-transform infrared spectroscopy,Raman spectroscopy,field emission scanning electron microscopy,transmission electron microscopy,atomic force microscopy,and N2 adsorption-desorption *** results of structural and morphological analysis represented that BN has been successfully *** efficacy of the main operating parameters on the process was studied by using response surface methodology based on the Box-Behnken design *** prepared catalyst showed high efficiency in oxidative desulfurization of diesel fuel with initial sulfur content of 8040 mg·kg^(-1)*** statistical analysis,a significant quadratic model was obtained to predict the sulfur removal as a function of efficient *** maximum efficiency of 72.4%was achieved under optimized conditions at oxidant/sulfur molar ratio of 10.2,temperature of 71℃,reaction time of 113 min,and catalyst dosage of 0.36 ***,the reusability of the BN was studied,and the result showed little reduction in activity of the catalyst after 10 times ***,a plausible mechanism was proposed for oxidation of sulfur compounds on the surface of the *** present study shows that BN materials can be selected as promising metal-free catalysts for desulfurization process.

关键词： Desulfurization Boron nitride(BN)nanostructure Experimental design BoxeBehnken

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Comparative analysis between single-train passing and double-train intersection in a tunnel

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2024年第5期25卷 429-442页

作者： Jianming DU Qian FANG Xuan ZHANG Hualao WANG Bridge and Tunnel research center Research Institute of Highway Ministry of TransportBeijing 100088China Tunnel and Underground Engineering research center of Ministry of Education Beijing Jiaotong UniversityBeijing 00044China

Aerodynamic pressure significantly impacts the scientific evaluation of tunnel service *** aerodynamic pressure of two trains running in a double-track tunnel is considerably more complicated than that of a single *** used the numerical method to investigate the difference in aerodynamic pressure between a single train and two trains running in a double-track ***,the numerical method was verified by comparing the results of numerical simulation and on-site ***,the characteristics of aerodynamic pressure were ***,the influence of various train-tunnel factors on the characteristics of aerodynamic pressure was *** results show that the aerodynamic pressure variation can be divided into stage I:irregular pressure fluctuations before the train tail leaves the tunnel exit,and stage II:periodic pressure declines after the train tail leaves the tunnel *** addition,the aerodynamic pressure simultaneously jumps positively or drops negatively for a single train or two trains running in double-track tunnel *** pressure amplitude in the two-train case is higher than that for a single *** maximum positive peak pressure difference(P_(STP))and maximum negative peak pressure difference(P_(STN))increase as train speed rises to the power from 2.256 to 2.930 in stage *** P_(STP) and P_(STN) first increase and then decrease with the increase of tunnel length in stage *** P_(STP) and P_(STN) increase as the blockage ratio rises to the power from 2.032 to 2.798 in stages I and II.

关键词： Railway tunnel Aerodynamic effect Pressure characteristic Train speed Tunnel length Blockage ratio

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Ni-Catalyzed Enantioselective Difunctionalization of Alkynes to Azepine Derivatives Bearing a Quaternary center and an Unprotected Imine

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Chinese Journal of Chemistry 2024年第8期42卷 873-878页

作者： Jian Long Zhiwu Lu Xiao-Lin Li Peng Xue Wen-Bo Liu Engineering research center of Organosilicon Compounds&Materials(Ministry of Education)and College of Chemistry and Molecular Sciences Wuhan UniversityWuhanHubei430072 China

Comprehensive Summary,The azepine ring is a prominent structural scaffold in biologically significant molecules. In this study, we present a Ni(II)-catalyzed asymmetric difunctionalization of alkynes, involving intermolecular regioselective arylation and intramolecular nitrile addition, enabling the synthesis of enantioenriched azepine derivatives. This reaction simultaneously installs an all-carbon quaternary stereocenter and introduces an unprotected imine functionality, showing great promise for subsequent transformations. The reaction exhibits good tolerance toward various functional groups, resulting in high yields and enantioselectivities. The synthetic utility of this methodology is further demonstrated through gram-scale synthesis and product derivatization. This research offers an efficient approach to the synthesis of seven-membered nitrogen heterocycles.

关键词： Nickel Asymmetric catalysis N-Heterocycles Alkyne functionalization Quaternary centers

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Cognitive impairment in cerebral small vessel disease induced by hypertension

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Neural Regeneration research 2024年第7期19卷 1454-1462页

作者： Weipeng Wei Denglei Ma Lin Li Lan Zhang Department of Pharmacy Xuanwu Hospital of Capital Medical UniversityBeijingChina Beijing Geriatric Medical research center Beijing Engineering Research Center for Nervous System DrugsNational Center for Neurological DisordersNational Clinical Research Center for Geriatric DiseasesBeijingChina

Hypertension is a primary risk factor for the progression of cognitive impairment caused by cerebral small vessel disease,the most common cerebrovascular *** r,the causal relationship between hypertension and cerebral small vessel disease remains *** has substantial negative impacts on brain health and is recognized as a risk factor for cerebrovascular *** hypertension and lifestyle factors are associated with risks for stro ke and dementia,and cerebral small vessel disease can cause dementia and *** is the main driver of cerebral small vessel disease,which changes the structure and function of cerebral vessels via various mechanisms and leads to lacunar infarction,leukoaraiosis,white matter lesions,and intracerebral hemorrhage,ultimately res ulting in cognitive decline and demonstrating that the brain is the to rget organ of *** review updates our understanding of the pathogenesis of hypertensioninduced cerebral small vessel disease and the res ulting changes in brain structure and function and declines in cognitive *** also discuss drugs to treat cerebral small vessel disease and cognitive impairment.

关键词： blood-brain barrier cerebral small vessel disease cognitive impairment dementia endothelial dysfunction enlarged perivascular space hypertension lacunar infarction neuroinflammation treatment white matter high signal intensity

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Pressure-induced hydrogen-dominant high-temperature superconductors

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National Science Review 2024年第7期11卷 14-16页

作者： Ho-kwang Mao Shanghai Advanced research in Physical Sciences center for High Pressure Science and Technology Advanced research

Recent studies of hydrogen-dominant（superhydride） materials have led to putative discoveries of near-room temperature superconductivity at high pressures. The idea started more than half-a-century ago as a by-product of the quest for metallic hydrogen for which a natural consequence of its very high Debye temperature and phonon frequency due to the very low mass of the hydrogen atoms would lead to a high superconducting critical temperature （Tc） in weak coupling Bardeen-Cooper-Schrieffer（BCS） expression.

关键词： HYDRIDE LANTHANUM

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Design of Resilient Sensor Networks Balancing Resilience and Efficiency

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International Journal of Disaster Risk Science 2024年第1期15卷 107-115页

作者： Sergey N.Vecherin Kiril D.Ratmanski Luke Hogewood Igor Linkov Cold Regions research and Engineering Laboratory Engineering Research and Development CenterHanoverNH 03755USA Environmental Laboratory Engineering Research and Development CenterVicksburgMS 39180USA

In recent years,the notion of resilience has been developed and applied in many technical areas,becoming exceptionally pertinent to disaster risk *** a disaster situation,accurate sensing information is the key to efficient recovery *** general,resilience aims to minimize the impact of disruptions to systems through the fast recovery of critical functionality,but resilient design may require redundancy and could increase *** this article,we describe a method based on binary linear programming for sensor network design balancing efficiency with *** application of the developed framework is demonstrated for the case of interior building surveillance utilizing infrared sensors in both twoand three-dimensional *** method provides optimal sensor placement,taking into account critical functionality and a desired level of resilience and considering sensor type and *** problem formulation,resilience requirements,and application of the optimization algorithm are described in *** of sensor locations with and without resilience requirements shows that resilient configuration requires redundancy in number of sensors and their intelligent *** tasks are successfully solved by the described method,which can be applied to strengthen the resilience of sensor networks by *** proposed methodology is suitable for large-scale optimization problems with many sensors and extensive coverage areas.

关键词： Binary linear programming Optimal sensor placement Redundant networks Resilience and efciency Resilient sensor networks

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Magnetic methods in studies of new superconducting hydrides in a diamond anvil cell

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National Science Review 2024年第7期11卷 16-18页

作者： Viktor V.Struzhkin Ho-kwang Mao center for High Pressure Science&Technology Advanced research

In recent years, we have witnessed great success in discoveries of high-transition-temperature（Tc） hydrides using high-pressure experiments. This has been achieved by creating metallic hydrogen‘alloys’ with other ...

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Microstructural landscape of amorphous carbon

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National Science Review 2024年第5期11卷 94-95页

作者： Huiyang Gou center for High Pressure Science and Technology Advanced research (HPSTAR)

Due to its diverse bonding hybridization forms (sp, sp2and sp3), amorphous carbon exhibits multifaceted properties and important application prospects, which have aroused extensive research interest[1–5]. In amorphous solids, some degree of atomic short-to medium-range order is thought to be ubiquitous, and the recent synthesis of new amorphous carbon has further increased our understanding of the atomic disorder in materials [4].

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