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Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts

Journal of Genetics and Genomics 2024年第2期51卷 222-229页

作者： Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding nan jiang Jieni Zhang Huaxiang Zhao Feng Chen Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi’an Jiaotong UniversityXi’anShaanxi710004China Guangdong Provincial High-level Clinical Key Specialty Guangdong Province Engineering Research Center of Oral Disease Diagnosis and TreatmentDepartment of OrthodonticsStomatological CenterPeking University Shenzhen HospitalShenzhen Peking University-The Hong Kong University of Science and Technology Medical CenterShenzhenGuangdong 518036China Department of Physiology and Pathophysiology School of Basic Medical SciencesXi'an Jiaotong UniversityXi'anShaanxi710049China National Center for Stomatology National Clinical Research Center for Oral DiseasesNational Engineering Laboratory for Digital and Material Technology of StomatologyBeijing Key Laboratory for Digital StomatologyResearch Center of Engineering and Technology for Computerized Dentistry Ministry of HealthNMPA Key Laboratory for Dental MaterialsBeijing100101China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081China

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.

关键词： Or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse

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Left ventricular thrombosis caused cerebral embolism during venoarterial extracorporeal membrane oxygenation support: A case report

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World Journal of Clinical Cases 2024年第5期12卷 973-979页

作者： Yao-Bang Bai Feng Zhao Zhen-Hua Wu Guo-Ning Shi nan jiang Intensive Care Unit Department of Cardiac SurgeryTianjin Chest HospitalTianjin 300222China Department of Cardiac Surgery Tianjin Chest HospitalTianjin 300222China

BACKGROUND Venoarterial(VA)extracorporeal membrane oxygenation(ECMO),an effective short-term circulatory support method for refractory cardiogenic shock,is widely applied.However,retrospective analyses have shown that VA-ECMO-assisted cases were associated with a relatively high mortality rate of approximately 60%.Embolization in important organs caused by complications of left ventricular thrombosis(LVT)during VA-ECMO is also an important reason.Although the incidence of LVT during VA-ECMO is not high,the consequences of embolization are disastrous.CASE SUMMARY A 37-year-old female patient was admitted to hospital because of fever for 4 d and palpitations for 3 d.After excluding the diagnosis of coronary heart disease,we established a diagnosis of“clinically explosive myocarditis”.The patient still had unstable hemodynamics after drug treatment supported by VA-ECMO,with heparin for anticoagulation.On day 4 of ECMO support,a left ventricular thro-mbus attached to the papillary muscle root of the mitral valve was found by transthoracic echocardiography.Left ventricular decompression was performed and ECMO was successfully removed,but the patient eventually died of multiple cerebral embolism.CONCLUSION LVT with high mobility during VA-ECMO may cause embolism in important organs.Therefore,a"wait and see"strategy should be avoided.

关键词： Venoarterial extracorporeal membrane oxygenation Left ventricular thrombosis Cerebral embolism Magnetic Resonance Imaging Therapy Case report

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Eleven new species of the genus Ourapteryx Leach,1814(Lepidoptera:Geometridae)from China

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Zoological Systematics 2024年第2期49卷 158-174页

作者： Rui Cheng nan jiang Chaodong Zhu Yongqiang Xu Hongxiang Han Key Laboratory of Zoological Systematics and Evolution Institute of ZoologyChinese Academy of SciencesBeijing 100101China Institute of Plateau Biology of Xizang Autonomous Region Lhasa 850000China

Eleven new species of Ourapteryx Leach,1814 were described:O.curta jiang&Han,sp.nov.,O.triangulata Cheng&Han,sp.nov.,O.cawarongensis Cheng&jiang,sp.nov.,O.arcuata jiang&Cheng,sp.nov.,O.longiacutata jiang&Cheng,sp.nov.,O.linzhiensis jiang&Cheng,sp.nov.,O.aniqiaoensis Cheng&Zhu,sp.nov.,O.incurvata Cheng&jiang,sp.nov.,O.concava Cheng&Han,sp.nov.,O.alba Cheng&Han,sp.nov.,O.motuoensis Cheng&Zhu,sp.nov.Diagnoses for these new species are provided,with illustrations of external features and genitalia.

关键词： Ennominae morphology taxonomy

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Experimental and numerical study on atmospheric-pressure air dielectric barrier discharge via 50 Hz/5000 Hz dual-frequency excitation

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High Voltage 2024年第2期9卷 391-402页

作者： Junwen He Bangfa Peng Guanglin Yu Ronggang Wang nan jiang Jie Li Yan Wu School of Electrical Engineering Dalian University of TechnologyDalianChina Canmax Technologies Co. Ltd.SuzhouChina

A dual-frequency(DF)dielectric barrier discharge,excited by the superposition of a 50 Hz low frequency(LF)and a 5000 Hz intermediate frequency(IF),is proposed to enhance discharge.The effect of the LF voltage component on the breakdown behaviour of the DF discharge during different periods has been studied both experimentally and numerically.The number of high-current pulses rises as the LF voltage increases.The statistical analysis shows that the number of the current pulse amplitude above 80 mA in the DF discharge reaches nearly 6 times that in the IF discharge.Additionally,the total discharge energy in the DF discharge is significantly higher than that in the IF discharge.The simulation re-produces the temporal variation of the breakdown behaviours in the DF discharge.The simulated results reveal that the maximal electric field strength of the breakdown process is greater in the DF discharge compared to the IF discharge during a half-period of DF.Finally,the comparison between the IF and DF discharges exhibits that the LF voltage regulates the accumulation of residual charged species on the dielectric surface after the breakdown by modulating the residual voltage between the air gap.

关键词： dielectric excitation excited

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Potential therapeutic role of spermine via Rac1 in osteoporosis:Insights from zebrafish and mice

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Zoological Research 2024年第2期45卷 367-380页

作者： Rui-Xue jiang nan Hu Yu-Wei Deng Long-Wei Hu Hao Gu nan Luo Jin Wen Xin-Quan jiang Department of Prosthodontics Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200011China College of Stomatology Shanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghai Research Institute of StomatologyShanghai Engineering Research Center of Advanced Dental Technology and MaterialsShanghai 200125China Department of Endodontics Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai Jiao Tong UniversityShanghai 200011China Department of Oral and Maxillofacial-Head and Neck Oncology Shanghai Ninth People’s HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200011China Department of Preventive Dentistry Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai Jiao Tong UniversityShanghai 200011China

Osteoporosis(OP)is a prevalent metabolic bone disease.While drug therapy is essential to prevent bone loss in osteoporotic patients,current treatments are limited by side effects and high costs,necessitating the development of more effective and safer targeted therapies.Utilizing a zebrafish(Danio rerio)larval model of osteoporosis,we explored the influence of the metabolite spermine on bone homeostasis.Results showed that spermine exhibited dual activity in osteoporotic zebrafish larvae by increasing bone formation and decreasing bone resorption.Spermine not only demonstrated excellent biosafety but also mitigated prednisolone-induced embryonic neurotoxicity and cardiotoxicity.Notably,spermine showcased protective attributes in the nervous systems of both zebrafish embryos and larvae.At the molecular level,Rac1 was identified as playing a pivotal role in mediating the antiosteoporotic effects of spermine,with P53 potentially acting downstream of Rac1.These findings were confirmed using mouse(Mus musculus)models,in which spermine not only ameliorated osteoporosis but also promoted bone formation and mineralization under healthy conditions,suggesting strong potential as a bonestrengthening agent.This study underscores the beneficial role of spermine in osteoporotic bone homeostasis and skeletal system development,highlighting pivotal molecular mediators.Given their efficacy and safety,human endogenous metabolites like spermine are promising candidates for new anti-osteoporotic drug development and daily bone-fortifying agents.

关键词： Osteoporosis Spermine Rac1 Zebrafish Mice

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Ionization Engineering of Hydrogels Enables Highly Efficient Salt‑Impeded Solar Evaporation and Night‑Time Electricity Harvesting

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nano-Micro Letters 2024年第1期16卷 131-146页

作者： nan He Haonan Wang Haotian Zhang Bo jiang Dawei Tang Lin Li School of Energy and Power Engineering Key Laboratory of Ocean Energy Utilization and Energy Conservation of Ministry of EducationDalian University of TechnologyDalian 116024People’s Republic of China

Interfacial solar evaporation holds immense potential for brine desalination with low carbon footprints and high energy utilization.Hydrogels,as a tunable material platform from the molecular level to the macroscopic scale,have been considered the most promising candidate for solar evaporation.However,the simultaneous achievement of high evaporation efficiency and satisfactory tolerance to salt ions in brine remains a challenging scientific bottleneck,restricting the widespread application.Herein,we report ionization engineering,which endows polymer chains of hydrogels with electronegativity for impeding salt ions and activating water molecules,fundamentally overcoming the hydrogel salt-impeded challenge and dramatically expediting water evaporating in brine.The sodium dodecyl benzene sulfonate-modified carbon black is chosen as the solar absorbers.The hydrogel reaches a ground-breaking evaporation rate of 2.9 kg m−2 h−1 in 20 wt%brine with 95.6%efficiency under one sun irradiation,surpassing most of the reported literature.More notably,such a hydrogel-based evaporator enables extracting clean water from oversaturated salt solutions and maintains durability under different high-strength deformation or a 15-day continuous operation.Meantime,on the basis of the cation selectivity induced by the electronegativity,we first propose an all-day system that evaporates during the day and generates salinity-gradient electricity using waste-evaporated brine at night,anticipating pioneer a new opportunity for all-day resource-generating systems in fields of freshwater and electricity.

关键词： Solar evaporation Hydrogel evaporators Salt impeding Ionization engineering Cyclic vapor-electricity generation

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Virus-like nanoparticle vaccines for inducing long-lasting immunity against infectious diseases

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National Science Review 2024年第4期11卷 13-15页

作者： Yi-nan Zhang Sarah Auclair jiang Zhu Department of Integrative Structural and Computational Biology The Scripps Research Institute Department of Immunology and Microbiology The Scripps Research Institute

Prophylactic vaccines that can generate long-lasting protective immune responses are needed for many infectious diseases. Efficient vaccination requires vaccine antigens to be retained and presented to B cells in lymp...

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Recent progress on rapid diagnosis of COVID-19 by point-of-care testing platforms

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Chinese Chemical Letters 2024年第3期35卷 66-75页

作者： Ya-nan Tang Dingding jiang Xuejun Wang Yunqi Liu Dacheng Wei State Key Laboratory of Molecular Engineering of Polymers Department of Macromolecular ScienceFudan UniversityShanghai 200433China Institute of Molecular Materials and Devices Fudan UniversityShanghai 200433China

The outbreak of COVID-19 has drawn great attention around the world.SARS-CoV-2 is a highly infectious virus with occult transmission by many mutations and a long incubation period.In particular,the emergence of asymptomatic infections has made the epidemic even more severe.Therefore,early diagnosis and timely management of suspected cases are essential measures to control the spread of the virus.Developing simple,portable,and accurate diagnostic techniques for SARS-CoV-2 is the key to epidemic prevention.The advantages of point-of-care testing technology make it play an increasingly important role in viral detection and screening.This review summarizes the point-of-care testing platforms developed by nucleic acid detection,immunological detection,and nanomaterial-based biosensors detection.Furthermore,this paper provides a prospect for designing future highly accurate,cheap,and convenient SARS-CoV-2 diagnostic technology.

关键词： COVID-19 Point-of-care testing platforms Nucleic acid detection Asymptomatic infection Biosensors

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Clinical observation of endometrial prescription combined with TAM on FET of thin endometrial patients with kidney deficiency and blood stasis

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Clinical Research Communications 2024年第2期7卷 18-22页

作者： Wen-Ming Cao nan jiang Mei-Hua Wu Xiao-Lei Song Na Yu Shu-Ling Zhang Kui-Mei Zhang Gynecology department Shenzhen Hospital of Integrated Traditional Chinese and Western MedicineShenzhen 518104China Gynecology department Shandong Maternal and Child Health HospitalJinan 2500013China Gynecology department Shandong Changle People’s HospitalWeifang 262400China.

Objective:To explore the best endometrial preparation scheme of freeze-thawed embryo transfer(FET)for patients with thin endometrium with kidney deficiency and blood stasis by comparing the clinical outcomes of three endometrial preparation schemes of estradiol valerate tablets Hormone Replacement(HRT),Tamoxifen(TAM)and Endometrial Prescription combined with TAM(EP-TAM group).Method:Retrospective analysis of 318 patients with thin endometrium with kidney deficiency and blood stasis who underwent FET in Changle People's Hospital of Shandong Province,Shandong Maternal and Child Health Hospital,and Shenzhen Hospital of Integrated Traditional Chinese and Western Medicine from September 2018 to March 2023,including 101 patients in HRT group(estradiol valerate tablets);108 patients in TAM group;109 patients in EP-TAM group.The cycle cancellation rate,intimal thickness,clinical pregnancy rate,embryo implantation rate,early abortion rate and ectopic pregnancy rate were compared among the three groups.Result:Cycle cancellation rates of TAM group and EP-TAM group were significantly lower than HRT group(8.3%,9.2%vs 17.8%,Pnancy rate and implantation rate of TAM group and EP-TAM group were higher than HRT group,the early abortion rate and ectopic pregnancy rate were lower than HRT group,and EP-TAM group was more significant(P<0.05).Conclusion:Patients with thin endometrium underwent FET can try Endometrium Prescription combined with TAM(EP-TAM)to prepare the endometrium.

关键词： endometrium prescription estradiol valerate tablets tamoxifen hormone replacement thin endometrium freeze-thawed embryo transfer

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Acupuncture for obesity and related diseases:Insight for regulating neural circuit

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Journal of Integrative Medicine 2024年第2期22卷 93-101页

作者： Lin-yan jiang Jun Tian Ya-nan Yang Shao-hui Jia Qing Shu Department of Rehabilitation Medicine Zhongnan HospitalWuhan UniversityWuhan 430071Hubei ProvinceChina School of Sports Medicine Wuhan Sports UniversityWuhan 430079Hubei ProvinceChina Department of Traditional Chinese Medicine China Resources&Wu Gang General HospitalWuhan 430080Hubei ProvinceChina

Obesity is defined as abnormal or excessive fat accumulation that may impair health.Obesity is associated with numerous pathological changes including insulin resistance,fatty liver,hyperlipidemias,and other obesity-related diseases.These comorbidities comprise a significant public health threat.Existing anti-obesity drugs have been limited by side effects that include depression,suicidal thoughts,cardiovascular complications and stroke.Acupuncture treatment has been shown to be effective for treating obesity and obesity-related conditions,while avoiding side effects.However,the mechanisms of acupuncture in treating obesity-related diseases,especially its effect on neural circuits,are not well understood.A growing body of research has studied acupuncture’s effects on the endocrine system and other mechanisms related to the regulation of neural circuits.In this article,recent research that was relevant to the use of acupuncture to treat obesity and obesity-related diseases through the neuroendocrine system,as well as some neural circuits involved,was summarized.Based on this,acupuncture’s potential ability to regulate neural circuits and its mechanisms of action in the endocrine system were reviewed,leading to a deeper mechanistic understanding of acupuncture’s effects and providing insight and direction for future research about obesity.

关键词： Obesity Acupuncture Neural circuit Appetite Energy metabolism

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