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1 2024-05-16

近日,生物医学工程系副教授王文锦团队与南方科技大学第二附属医院(深圳市第三人民医院,以下简称“深圳三院”)党委副书记、院长卢洪洲教授,胸外科主任乔坤、陶筱婷医生深度合作,以“Camera-based Respiratory Imaging for Intelligent Rehabilitation Assessment of Thoracic Surgery Patients(基于视频呼吸成像的胸外科术后患者康复评估)”为题在学术期刊IEEE Internet of Things上发表研究论文。该研究获得了国家自然科学基金委员会的官方报道与关注。在针对胸外科术后患者的康复评估研究中,南科大与深圳三院组成的医工团队首次利用相机阵列式监测实现了肺部呼吸运动的空间成像,并通过深度神经网络对肺部康复状态实现智能化评估诊断。该研究从肺部康复的临床诊断机制出发(包括听诊法和触诊法),利用相机像素阵列式的呼吸运动监测判断患者胸部左右区域的呼吸对称性,使用生物医学工程系“无线健康感知实验室”自主研发的高精度光流法PixFlow提取视频中患者微弱的胸部呼吸运动,生成呼吸强度空间热力分布图,并基于原型对比学习的深度神经网络对呼吸运动成像进行自动化分析,从而实现对患者肺部术后康复状态的智能评估。与临床“金标准”CT或X-ray影像相比,研究团队提出的创新方法在45例胸外科患者上验证了其临床有效性。临床试验表明,非接触视频生理监测不仅可用于连续的生命监护(如重症监护室、新生儿监护室、睡眠中心),也可用于快筛式的疾病筛查或康复评估,将在生命监护和康复诊断方面发挥重要作用,对推动“非接触监护技术”的国产化创新具有重要的示范性作用。 查看详细>>

来源:南方科技大学 点击量: 0

2 2024-05-16

Researchers at Sinai Health and the University of Toronto have uncovered amechanism in the nervous system of the tiny roundworm C.elegans that could have significant implications for treating human diseases and advancing robotics.The study,led by Mei Zhen and colleagues at the Lunenfeld-Tanenbaum Research Institute,was published in the journal Science Advances and reveals the crucial role of aspecific neuron called AVA in controlling the worm’s ability to shift between forward and backward motion.Crawling towards food sources and swiftly reversing from danger is amatter of life and death for the worms.This type of behaviour,where two actions are mutually exclusive,is common in many animals including humans–we cannot sit and run at the same time,for example.Scientists long believed that control of movements in worms was due to straightforward reciprocal actions between two neurons:AVA and AVB.The former was thought to promote backward motion while AVB facilitated forward motion,with each neuron inhibiting the other to control movement direction.However,the new data from Zhen’s team challenge this notion,uncovering amore complex interaction where the AVA neuron plays adual role.It not only instantly stops forward motion by inhibiting AVB,but also maintains alonger-term stimulation of AVB to ensure asmooth transition back to forward movement.The discovery highlights the AVA neuron’s ability to finely control movement through distinct mechanisms,depending on different signals and across different time scales.“In terms of engineering,this is avery economical design,”said Zhen,who is also aprofessor of molecular genetics in Uof T’s Temerty Faculty of Medicine.“The strong,robust inhibition of the backward circuit allows the animals to respond to bad environments and escape.At the same time,the controller neuron continues to put in constitutive gas into the forward circuit to generate movement towards safer places.”Jun Meng,a former PhD student in the Zhen lab who led the research,said understanding how animals transition between such opposing motor states is crucial for insights into how animals move as well as neurological disorder research–and that the worms provide aunique window into basic neural wiring that‘s to their simple,see-through bodies.The discovery that the AVA neuron plays such adominant role offers amajor new insight into the neural circuit that scientists have studied since the inception of modern genetics over half acentury ago.The Zhen lab successfully leveraged cutting-edge technology to precisely modulate the activity of individual neurons and record data from living worms in motion.Zhen,who is also aprofessor of cell and systems biology at Uof T’s Faculty of Arts&Science,emphasizes the importance of interdisciplinary collaboration in this research.Meng performed key experiments,while neuronal electrical recordings were conducted by Bin Yu,a PhD student in Shangbang Gao’s lab at Huazhong University of Science and Technology in China.Tosif Ahamed,a former post-doctoral researcher in the Zhen lab and now aTheory Fellow at the HHMI Janelia Research Campus in the United States,led mathematical modelling efforts that were crucial for testing hypotheses and gaining the new insights.The findings provide asimplified model to study how neurons can manage multiple roles in movement control–a concept that might extend to human neurological conditions. 查看详细>>

来源:多伦多大学 点击量: 0

3 2024-05-16

烯烃氢甲酰化反应是当前化工行业最大的均相催化过程,需要使用均相金属配合物作为催化剂。为了避免使用昂贵的配体以及简化催化剂的回收流程,使用固体催化剂替代传统的金属配合物催化剂催化长链烯烃(C6-C12烯烃)的氢甲酰化反应一直是化学家追求的目标。近日,清华大学化学系刘礼晨副教授、清华大学燃烧能源中心/车辆与运载学院张亮副教授领衔的研究团队与中科院山西煤化所/中科合成油曹直研究员合作,成功破解了烯烃多相氢甲酰化反应中选择性的关键难题。通过使用分子筛作为“无机配体”,实现了长链烯烃氢甲酰化反应中超高的区域选择性,超越了几乎目前已报道的所有均相和多相催化剂。该研究不仅突破了多相长链烯烃氢甲酰化反应的选择性瓶颈,还提出了一种新的固体催化剂设计理念,即使用分子筛作为无机配体,实现对金属活性中心配位环境的调控。烯烃氢甲酰化反应是目前化工行业中体量最大的均相催化过程,通过将烯烃转化为醛类的物质,为下游诸多过程提供原料。据统计,全球每年氢甲酰化反应的产量超过1000万吨,连带下游产品的市场体量超过3000亿美金。市场对直链醛和其下游直链醇产品的需求日益增长,促使科学家们不断寻求能够提高直链/支链醛比例(l/b比)的催化剂。尽管多相催化剂在催化剂循环利用方面具有一定优势,但其在线性α-烯烃反应中的区域选择性远低于传统的均相催化体系,即使经过了全世界学术界和工业界几十年的研发,依然无法实现商业化应用。开发出纯无机固体催化剂实现长链烯烃的氢甲酰化,不仅具有重要的应用价值,也是一项基础研究上的巨大挑战。一般认为,固体催化剂的结构复杂性导致其无法获得超过均相配合物催化剂的性能。清华大学化学系和燃烧能源中心/车辆学院组成的联合研究团队通过理性设计MFI沸石结构,成功将亚纳米Rh簇精确限域在沸石的正弦型10MR通道内。实验结果表明,Rh-MFI沸石催化剂在处理线性α-烯烃(C6-C12烯烃)时展现出了前所未有的线性醛生成选择性,l/b比高达400以上。该纯无机固体催化剂的区域选择性超过了目前文献报道的所有的多相催化剂,甚至远超传统均相催化剂的性能指标。科研团队利用球差矫正透射电子显微镜和原位X-射线吸收谱和红外光谱等一系列先进的表征技术,揭示了Rh簇在沸石孔道内均匀分布的精细结构及精准尺寸控制。通过第一性原理计算对反应路径的模拟,揭示了Rh簇尺寸对催化活性与选择性的决定性影响,与实验观测结果高度吻合。进一步的,电子结构计算分析揭示了Rh簇与沸石骨架间独特的协同效应,阐明了其对线性产物选择性产生定向促进作用的内在机理。该研究不仅为长链α-烯烃的高效、高选择性氢甲酰化提供了一种创新性的多相催化方案,展示了其在实际工业化生产中的潜在应用前景,也为其他复杂反应体系中金属簇在多孔材料内的精准制备和催化应用提供了崭新的思路与技术范例。 查看详细>>

来源:清华大学 点击量: 0

4 2024-05-14

俗称“磁波刀”的“磁共振引导相控聚焦超声”技术是近年来治疗特发性震颤和震颤主导型帕金森病的新兴方式之一,具有无创、可控、穿透力强等特点,目前已有一款进口“磁波刀”产品进入我国。近日,国产化“磁波刀”系统的研发应用再获突破。上海交大生物医学工程学院陈亚珠院士、沈国峰研究员团队联合陈垚教授团队、上海市第一人民医院副院长、放射科学科带头人王悍教授团队与沈德无创时代医疗科技有限公司合作,首次成功完成了国产“磁波刀”系统治疗特发性震颤和震颤主导型帕金森病的临床前灵长类动物实验。首都医科大学宣武医院张宇清主任、宣武医院济南分院张晓华副院长、深圳大学附属华南医院陶蔚主任、魏明怡医生、佛山市中医院周守国主任、王娟主任、黄耀渠主任参与了本次实验。本次恒河猴实验检验了系统的安全性、有效性和稳定性,为“磁波刀”系统进入人体临床试验,实现国产化提供了重要实践支撑。特发性震颤是一种较为普遍的神经系统疾病。患者的吃饭、喝水、写作等日常活动会受到严重影响,大约有15%-25%的患者因该病无法正常生活、工作。目前,特发性震颤的手术治疗和药物治疗较为成熟。其中脑深部电刺激技术(DBS)是重要的微创介入治疗手段之一,通过微创手术将电极植入大脑,刺激神经核团和神经环路,达到治疗目的,DBS属于侵入性治疗,不少患者对此有所顾虑。“磁波刀”系统的治疗原理是在超导磁共振实时成像引导下,同时发射数百至数千束超声波,通过相位实时调控,实现多模式精准聚焦,通过磁共振实时测温,实现脑部治疗靶点精准消融。患者可以在无须开颅、无须全身麻醉的情况下,在门诊即可完成“磁波刀”手术治疗。近年来,上海交通大学生物医学工程学院沈国峰研究员团队联合上海市第一人民医院和沈德无创时代医疗器械有限公司,在陈亚珠院士的指导下联合攻关,已突破“卡脖子”的关键核心技术,成功研发了具有完全自主知识产权的“磁共振引导相控聚焦超声”无创治疗技术并开发出国产“磁波刀”系列产品进入临床。该技术原理类似于相控阵雷达,可主动感知、灵活调整超声焦点的位置,实现焦点的快速移动和转换。在治疗过程中,“磁波刀”能够无损地探测到温度等多种参数,手术操作全程可视化。医生可通过后台监视屏上的实时磁共振图像指导手术操作并实时、精准评估疗效,大幅度提升了聚焦超声治疗的安全性和有效性。目前,团队研制的体部磁波刀产品与进口产品对照,已经完成子宫肌瘤适应证的全部临床工作,正在申请三类医疗器械注册证。在本次动物实验中,研究团队以灵长类动物恒河猴为实验对象,验证了自主研发的国产“磁波刀”设备的系统安全性及有效性。据悉,第一代用于脑部疾病治疗的国产“磁波刀”系统在上市后将聚焦于特发性震颤、震颤主导型帕金森病和运动障碍型帕金森病的热消融治疗,未来还会不断拓展,通过热消融、神经调控、打开血脑屏障靶向递药等创新技术,无创治疗脑胶质瘤、癫痫、阿尔茨海默症、抑制症、强迫症、神经疼痛等脑部神经和精神系统疾病,具有广阔的应用前景。 查看详细>>

来源:上海交通大学 点击量: 0

5 2024-05-13

近日,上海交通大学生命科学技术学院/医学院临床研究中心俞章盛教授课题组与合作者在中科院Top期刊《Cell Reports Medicine》在线发表题为“Harnessing TME depicted by histological images to improve cancer prognosis through adeep learning system”的研究成果,该研究开发了一个深度学习系统,可以通过组织病理学图像,为没有空间转录组数据的癌症患者预测肿瘤微环境信息,从而实现精确的癌症预后,大幅度地拓展了基因空间表达信息在大型生物医学病理图像公共数据库的使用。生命科学技术学院“致远荣誉计划”博士研究生高瑞恬是本文的第一作者,生命科学技术学院/医学院临床研究中心俞章盛教授、自然科学研究院王宇光教授及医学院附属瑞金医院孙晶教授为共同通讯作者。癌症患者的预后预测一直是临床中的重要挑战。肿瘤微环境对实体肿瘤的发生、演变和转移至关重要。越来越多的研究揭示了肿瘤微环境与癌症预后和治疗选择之间的相关性。空间转录组学技术可以从空间基因表达的角度对肿瘤微环境进行表征,区分癌症患者的不同预后亚组。然而,空间转录组的高昂成本和长实验周期阻碍了其应用于大规模癌症患者队列中进行生存预测。在临床中易于获取的组织病理学图像提供了丰富的肿瘤形态学信息,如果能开发出人工智能模型基于图像预测分子层面的基因空间表达水平,进而刻画肿瘤微环境,有望实现更精确的癌症预后。该研究致力于开发一个深度学习系统,利用组织病理学图像预测相应区域的高维基因空间表达水平,克服空间转录组数据目前存在的高成本和有限样本量等局限性,对仅有病理图像数据、没有空间转录组数据的大规模癌症队列进行肿瘤微环境刻画,提高癌症患者预后的精确性。该深度学习系统包含两个部分,第一部分是基于卷积神经网络和图神经网络的空间转录组表达水平预测模型(IGI-DL),第二部分是基于空间基因表达描绘的肿瘤微环境信息进行癌症生存预后预测。构建的IGI-DL模型集成了卷积神经网络和图神经网络的优势,充分利用组织病理学图像中的像素强度和结构特征,实现更准确的基因空间表达水平预测。模型在结直肠癌、乳腺癌和皮肤鳞状细胞癌这三种类型实体瘤中均表现出色,与五种现有方法相比平均相关系数提升了0.171。进一步,应用IGI-DL模型通过组织病理学图像推断基因的空间表达,构建Super-patch graph,进行癌症患者的生存预后。研究结果表明使用IGI-DL预测的基因空间表达作为Super-patch graph中的节点特征可以提高生存预后模型在TCGA数据集乳腺癌和结直肠癌队列中的性能表现,五折交叉验证C-index为0.747和0.725,优于其他生存预后模型。该生存预后模型对于早期患者(I期和II期)的预后预测同样保持精度优势,预测得到的风险评分可以作为所有阶段患者和早期患者的独立预后指标。在包含一千多名患者数据的外部测试集MCO-CRC中,生存预后模型保持稳定的优势,具有泛化能力。该研究受到国家自然科学基金、上海市科学技术委员会基金、上海交通大学“医工交叉研究基金”等项目资助。同时感谢上海交通大学网络信息中心提供的超算平台支持。 查看详细>>

来源:上海交通大学 点击量: 0

6 2024-05-13

A collaboration between theoretical physicists Dr Chengkang ZHOU and Professor Zi Yang MENG from the Department of Physics at The University of Hong Kong(HKU),along with experimentalists Zhenyuan ZENG and Professor Shiliang LI at the Institute of Physics(IOP),Chinese Academy of Sciences(CAS),and Professor Kenji NAKAJIMA from J-PARC Center,Japan,has led to adiscovery in the realm of quantum physics.Their study,published in arecent issue of Nature Physics,sheds light on the long-anticipated emergence of quasiparticles,akin to the famous Dirac particles obeying the relativistic Dirac equation.These quasiparticles,known as Dirac spinons,were theorised to exist within anovel quantum state called aquantum spin liquid state.Quasiparticles are intriguing entities that emerge from collective behaviour within materials,which can be treated like agroup of particles.The Dirac spinons,specifically,are expected to exhibit unique characteristics similar to Dirac particles in high-energy physics and the Dirac electrons in graphene and quantum moire materials,such as alinear dispersion relation between energy and momentum.But such spin-½charge neutral quasiparticles have not been seen in quantum magnets till this work.‘“To find Dirac spinons in quantum magnets has been the dream of generations of condensed matter physicists;now that we have seen the evidence of them,one can start to think about the countless potential applications of such highly entangled quantum material.Who knows,maybe one day people will build quantum computers with it,just as people have been doing in the past half-century with silicon,’”said Professor Meng,HKU physicist and one of the corresponding authors of the paper.The team‘s investigation focused on aunique material known as YCu3-Br,characterised by akagome lattice structure leading to the appearance of these elusive quasiparticles.Previous studies had hinted at the material‘s potential to exhibit aquantum spin liquid state,making it an ideal candidate for exploration.In order to enable the observation of spinons in YCu3-Br,the research team overcame numerous challenges by assembling approximately 5000 single crystals together,meeting the requirements for conducting experiments such as inelastic neutron scattering(see Fig.1d).Using advanced techniques like inelastic neutron scattering,the team probed the material‘s spin excitations and observed intriguing conical spin continuum patterns,reminiscent of the characteristic Dirac cone.While directly detecting single spinon proved challenging due to experimental limitations,the team compared their findings with theoretical predictions,revealing distinct spectral features indicative of the presence of spinons in the material.Finding spectral evidence of Dirac spinon excitations has always been achallenge.This discovery provides compelling evidence for the existence of aDirac quantum spin liquid state,which can be akin to aclear cry cutting through the fog of spectral investigation on the quantum spin liquid state.The findings not only advance our fundamental understanding of condensed matter physics but also open doors for further exploration into the properties and applications of YCu3-Br.Characterised by the presence of fractional spinon excitations,the quantum spin liquid state is potentially relevant to high-temperature superconductivity and quantum information.In this state,the spins are highly entangled and remain disordered even at low temperatures.Therefore,investigating the spectral signals arising from spinons obeying the Dirac equation would provide abroader understanding of the quantum spin liquid state of matter.Such understanding also serves as aguidepost toward its broader applications,including the exploration of high-temperature superconductivity and quantum information.For adetailed explanation of the research,please visit here:https://www.scifac.hku.hk/page/detail/8595 The journal paper entitled‘Spectral evidence for Dirac spinons in akagome lattice antiferromagnet’can be accessed from here:https://www.nature.com/articles/s41567-024-02495-z The study was supported by the Ministry of Science and Technology of China,the Chinese Academy of Sciences and grants from Hong Kong Research Grants Council.Neutron scattering measurements were performed on AMATERAS,J-PARC. 查看详细>>

来源:香港大学 点击量: 0

7 2024-05-13

浙江大学生命科学研究院汪方炜实验室在The EMBO Journal杂志在线发表了题为“A non-canonical role of the inner kinetochore in regulating sister-chromatid cohesion at centromeres”的研究论文。该研究发现了染色体内层动粒(inner kinetochore)通过直接结合黏连蛋白复合体(cohesin)调控姐妹染色单体黏连(sister-chromatid cohesion)的非经典功能,并阐明了其作用机理。有丝分裂是真核生物体细胞分裂的基本形式,也是生长发育和组织器官稳态维持的根本基础。有丝分裂通过将自我复制的姐妹染色单体平均分配至两个子细胞中,实现遗传物质由亲代细胞向子代细胞的精确传递。该过程中发生的微小差错都有可能造成子代细胞染色体数目和结构异常,进而促进肿瘤的发生与发展。据估算,一个成人体内每天约有数千亿个细胞在进行着有丝分裂,因此细胞必须拥有一套非常精确的控制系统,才能最大程度地保证在每一次有丝分裂过程中染色体都能正确分离。这套控制系统在分子水平上的运作机制还很不清楚。这项研究发现,敲低内层动粒CENP-OPQUR复合体的CENP-U亚基会导致姐妹染色单体在着丝粒区的黏连变弱。蛋白互作实验和质谱分析发现CENP-U可以结合黏连蛋白复合体,而且它们之间的结合依赖于黏连蛋白复合体的核心亚基Scc1和SA2,而非SMC1和SMC3。蛋白复合体的体外重构和互作实验进一步确定,CENP-U的氨基端和羧基端可以分别结合Scc1-SA2亚复合物和CENP-OPQR亚复合物。合作者华中科技大学贺晓静教授通过CENP-U肽段与Scc1-SA2亚复合物的蛋白共结晶实验,解析了CENP-U氨基端的FDF基序结合Scc1-SA2互作界面的结构基础。功能研究发现,将CENP-U的FDF基序突变为ADA后,不仅破坏了CENP-OPQUR复合体与黏连蛋白复合体的结合,还使得姐妹染色单体黏连变弱。机理研究发现,敲低黏连蛋白的调节亚基Wapl使得姐妹染色单体黏连不再依赖于CENP-U,不能结合CENP-U的Scc1-SA2突变体也部分失去了结合Wapl的能力,而且CENP-U能竞争性地排斥Wapl结合Scc1-SA2亚复合物,说明CENP-U通过抑制Wapl的功能促进姐妹染色单体黏连。以上结果说明,内层动粒CENP-OPQUR复合体通过其CENP-U亚基的FDF基序直接结合黏连蛋白复合体中Scc1-SA2亚复合物的互作界面,抑制Wapl通过结合Scc1-SA2界面移除着丝粒区黏连蛋白的活性,进而实现对姐妹染色单体黏连的保护作用。内层动粒最广为人知的功能是连接着丝粒染色质和外层动粒,纺锤体微管通过附着于外层动粒从而牵引染色体移动。这项研究意外地发现内层动粒可通过直接结合黏连蛋白调控姐妹染色单体黏连,不仅揭示了内层动粒作为黏连蛋白受体分子的非经典功能,还阐明了染色体分离控制系统在调控着丝粒黏连这一关键环节中的分子机制。黏连蛋白环介导姐妹染色单体黏连的确切机制目前还很不清楚。英国牛津大学生化系的Kim Nasmyth实验室近期报道,姐妹染色单体是由单个黏连蛋白环介导的(Ochs Fet al.,Science,2024,PMID:38452070)。然而,有丝分裂中期姐妹染色单体内层动粒的平均间距可达750纳米,约为黏连蛋白环直径的15倍,提示结合于内层动粒的黏连蛋白可能还会以多环串联的方式介导姐妹染色单体黏连。此外,黏连蛋白还在介导染色质环形成中发挥重要作用,内层动粒区的黏连蛋白是否调控着丝粒区染色质的高级结构,还有待探究。汪方炜教授、颜海燕副教授和贺晓静教授为论文共同通讯作者,浙江大学生命科学研究院颜璐(2020级直博生)、袁雪颖(2021级博士生)以及华中科技大学刘明洁博士为共同第一作者,浙江大学附属妇产科医院吕卫国教授和陈亲富研究员等也有重要贡献。该研究受国家自然科学基金、国家重点研发计划、浙江省自然科学基金、浙江大学生命科学研究院创新项目等资助。 查看详细>>

来源:浙江大学 点击量: 0

8 2024-05-09

疫苗是历史上最有效的医疗干预措施之一,显著减轻了全世界的疾病负担。据估计,疫苗每年在全球挽救了250万人的生命。尽管已经存在灭活疫苗、减毒疫苗、病毒载体疫苗、病毒样颗粒疫苗、DNA疫苗以及mRNA疫苗等成熟和新兴的疫苗技术,许多疾病迄今仍然没有有效的疫苗可以使用,包括HIV、HSV-1、HSV-2等传染性病毒既没有预防性也没有治疗性疫苗。对于某些病毒,现有的疫苗仅具有预防作用,并不能消除已经存在的感染,例如HBV和HPV。在非传染性疾病方面,癌症疫苗的开发仍处于早期阶段,在临床试验中仅仅取得了微弱的成功。这些健康威胁的解决需要疫苗技术的进一步开发和突破。近日,上海交通大学系统生物医学研究院蔡宇伽团队联合复旦大学洪佳旭、应天雷团队,上海交通大学董瑞蛟、陶生策团队,以及武汉病毒所、军事医学科学院、本导基因等多家单位在Nature Biomedical Engineering期刊在线发表了题为Dendritic-cell-targeting virus-like particles as potent mRNA vaccine carriers的研究论文。该研究开发了一种能够特异靶向DC细胞,高效递送mRNA和蛋白的新型疫苗平台技术—DC靶向性类病毒载体(DVLP)。这种全新的疫苗技术既能够携带mRNA也能在疫苗颗粒表面展示抗原蛋白的三维结构,具有高效激活体液免疫和细胞免疫的能力,可以显著防止新冠病毒感染,在被视为疫苗研发黑洞的单纯疱疹病毒的预防上也起到了显著的效果,为全球数亿的HSV感染者带来了治疗与预防的潜在手段。DVLP疫苗技术有望成为一个新型疫苗平台,在病毒感染、肿瘤、衰老的治疗和预防上发挥重要的作用。 查看详细>>

来源:上海交通大学 点击量: 0

9 2024-05-09

Autism Spectrum Disorder(ASD)cases are predominantly male,with amale-to-female ratio of about 4to 1.However,medical academia has been unable to determine the cause of this gender difference.A recent international study co-led by The Chinese University of Hong Kong(CUHK)’s Faculty of Medicine(CU Medicine)and its partners in Europe and the U.S.has made asignificant breakthrough in understanding the skewed sex ratio observed in ASD.The study revealed that the condition’s heritability is higher in males than females by 11 percentage points,meaning that males are more vulnerable to genetic variance related to ASD.Study details have been published in the renowned international journal JAMA Psychiatry.A breakthrough in the understanding of ASD ASD is aneurodevelopmental condition that includes difficulties with communication,social interaction and adjustment to unexpected changes.It is known that this condition is explained more by multigene effects(i.e.additive genetics)than by rare mutations with large effects.Male patients are more likely to be diagnosed compared to females.However,it is unclear why the sex ratio is skewed.For the current study,a population-based analysis was undertaken by an international research team consisting of researchers from CU Medicine,Icahn School of Medicine at Mount Sinai in the U.S.,Karolinska Institutet in Sweden and other institutions.They leveraged the anonymised data of the national health registers of non-twin siblings and cousins from Sweden.The participants,born between 1985 and 1998,were followed up to the age of 19.The data analysis,which took place from August 2022 to November 2023,included 1,047,649 individuals across 456,832 families.Researchers employed sophisticated statistical models to estimate the relative variance in ASD risk attributable to sex-specific additive genetics,shared environmental effects and acommon residual term.This residual term conceptually captured other factors promoting individual behavioural variation,including maternal effects(such as preterm birth),rare genetic variants or gene-environment interactions.The estimates were carefully adjusted for differences in prevalence due to birth year and maternal and paternal age.Paving the way for personalised care strategies for individuals with ASD Out of the entire cohort,12,226 cases(1.17%)received an ASD diagnosis,with ahigher prevalence in males(1.51%)than females(0.80%).The heritability of ASD was estimated at 87%for males and 75.7%for females,a difference of approximately 11 percentage points between the sexes.This shows that genetic factors play amore substantial role in the aetiology of male ASD cases,while residual factors have higher influence on female cases.Notably,the study found no evidence of shared environmental contributions to ASD.Professor Benjamin Yip Hon-kei,the corresponding author of the research paper and Associate Professor at CU Medicine’s The Jockey Club School of Public Health and Primary Care,stated,“These findings indicate that genetic variability may play amore significant role in males with ASD than females.Our study underscores the importance of considering sex differences in ASD research and treatment,potentially leading to future studies which target the rare mutations in female patients.Therefore,more personalised approaches may be developed to support individuals with ASD,considering their unique genetic makeup.”This research collaboration between CU Medicine and its partners in Europe and the U.S.is atestament to the importance of collaborative,cross-disciplinary efforts in advancing the understanding of neurodevelopmental disorders.Another corresponding author of the research paper,Professor Sven Sandin,Assistant Professor from the Department of Psychiatry of the Icahn School of Medicine at Mount Sinai and also an Applied Biostatistician from the Department of Medical Epidemiology and Biostatistics at Karolinska Institutet,concluded,“This study is acrucial step forward in unravelling the complexities of ASD.It not only provides clarity on the genetic predisposition of the condition,but also sets anew direction for global research to include sex-specific analysis.The implications for future studies are profound,as this research could lead to breakthroughs in understanding the nuanced genetic landscape of ASD and other related conditions.” 查看详细>>

来源:香港中文大学 点击量: 0

10 2024-05-02

A new catalyst made from an inexpensive,abundant metal and common table sugar has the power to destroy carbon dioxide(CO2)gas.In anew Northwestern University study,the catalyst successfully converted CO2 into carbon monoxide(CO),an important building block to produce avariety of useful chemicals.When the reaction occurs in the presence of hydrogen,for example,CO2 and hydrogen transform into synthesis gas(or syngas),a highly valuable precursor to producing fuels that can potentially replace gasoline.With recent advances in carbon capture technologies,post-combustion carbon capture is becoming aplausible option to help tackle the global climate change crisis.But how to handle the captured carbon remains an open-ended question.The new catalyst potentially could provide one solution for disposing the potent greenhouse gas by converting it into amore valuable product.The study will be published in the May 3issue of the journal Science.“Even if we stopped emitting CO2 now,our atmosphere would still have asurplus of CO2 as aresult of industrial activities from the past centuries,”said Northwestern’s Milad Khoshooei,who co-led the study.“There is no single solution to this problem.We need to reduce CO2 emissions and find new ways to decrease the CO2 concentration that is already in the atmosphere.We should take advantage of all possible solutions.”“We’re not the first research group to convert CO2 into another product,”said Northwestern’s Omar K.Farha,the study’s senior author.“However,for the process to be truly practical,it necessitates acatalyst that fulfills several crucial criteria:affordability,stability,ease of production and scalability.Balancing these four elements is key.Fortunately,our material excels in meeting these requirements.”An expert in carbon capture technologies,Farha is the Charles E.and Emma H.Morrison Professor of Chemistry at Northwestern’s Weinberg College of Arts and Sciences.After starting this work as aPh.D.candidate at the University of Calgary in Canada,Khoshooei now is apostdoctoral fellow in Farha’s laboratory. 查看详细>>

来源:美国西北大学 点击量: 0

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