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关键词： Oncology \u0026 Radiotherapy  

ISBN: (数字)9781119818113 ISBN: (纸本)9781789450163

摘要： In the age of genomics, oncogenetics is a growing discipline. It is defined as the identification and management of families where there is a suspected hereditary risk of cancer. This relatively new discipline is part of a modern medicine that aims to be both preventive and predictive. Constitutional Oncogenetics gives precise descriptions of the main syndromes that cause a predisposition for cancer. The first part examines the most common syndromes in the majority of the world, including the heightened hereditary risk of breast and ovarian cancer and Lynch syndrome. The second part introduces less common infracentesimal syndromes, such as Bloom syndrome and Fanconi syndrome. This book is intended for oncogenetic practitioners and other specialists, as well as medical students.

摘要： Spinoza's magnum opus, the, is written in a very peculiar, "geometrical" style, one that builds metaphysical and ethical doctrines out of mathematical, deductive proofs. These proofs rely on a series of definitions, axioms, propositions, and demonstrations. Nowhere in the does Spinoza explain his fundamental definitions and axioms, nor does he proffer a defense of his manner of presentation. I claim that by a thorough and systematic investigation of his earliest writings we can peel back the mystery of this geometrical garb and grasp why Spinoza presents his philosophy with formal, mathematical structure. I argue for the view that his methodology is more extensive and diverse than the geometrical presentation of the with which he is most closely associated. This essay pays special attention to Spinoza's earliest unpublished works with particular emphasis paid to. Therein, Spinoza provides his only extant attempt at explicitly and systematically developing his method. By focusing on the genetic development of key epistemological concepts in this text, the origins of Spinoza's system comes into stark relief. I argue that the can function like a prolegomena for the. Though there are important doctrinal disagreements between the texts, the when conceived as a proper propaedeutic to the can make the experience of the latter more powerful and comprehensible, filling in gaps in meaning left open by the geometrical presentation. One route for accomplishing this task requires a sustained conceptual analysis of, Spinoza's term for intuitive knowledge, the greatest form of knowledge in his epistemology. I offer a developmental account of intuitive knowledge and explore a unique interpretation of its nature that elucidates and organizes the creative momentum of Spinoza's method from the to the and beyond.

关键词： 肉鸡饲料   饲料报酬   中国农业科学院北京畜牧兽医研究所   营养学研究   创新团队   创新策略   遗传育种   遗传学  

摘要： 中国农业科学院北京畜牧兽医研究所鸡遗传育种创新团队结合遗传学和营养学研究策略,深入解析了鸡饲料报酬性状和营养代谢效率性状之间的遗传关系和分子基础,为研发肉鸡饲料报酬性状改良新技术提供了重要理论依据。相关研究成果在线发表于《动物科学与生物技术杂志(Journal of Animal Science and Biotechnology)》。

关键词： Gitelman综合征   低血钾   低血镁  

摘要： 目的筛查Gitelman综合征(Gitelman syndrome,GS)患者的致病基因。方法纳入2015年1月—2020年12月在四川大学华西医院内分泌代谢科诊治的GS患者及其家系成员,采用二代测序联合一代验证方法筛查致病基因。结果共纳入15例GS患者。所有患者行基因分析均提示SLC12A3基因突变,其中复合杂合突变9例,杂合突变6例。共发现12个已报道的致病位点和8个新的致病突变。新发现致病突变中,4个为错义突变(分别是c.539C>A,p.T180K、c.1077C>G,p.N359K、c.1967C>T,p.P656L、c.2963T>C,p.I988T),1个为单个碱基缺失所致框移突变(c.2543delA,p.D848fs),1个为无义突变(c.2129C>A,p.S710X),1个为大片段缺失(外显子7-8部分编码序列缺失),1个为编码序列的缺失和异常碱基序列插入(IVS7-1至C.976缺失GCGGACATTTTTG插入ACCGAAAATTTT)。结论该研究发现8个导致GS的新基因突变,其确切致病机制有待后续研究进一步证实。

关键词： 遗传学   分离定律   科学思维  

摘要： 遗传学是农学类专业的一门专业基础课程,在教学中渗透科学思维能力的培养对学生来说尤为重要。本文以孟德尔分离定律的教学为例,对各种科学思维的原则和方法在教学中集中应用进行叙述,以期促进学生科学思维的发展。

关键词： 童年创伤   抑郁症   磁共振成像   遗传学  

摘要： 童年创伤是指对儿童有义务抚养、监管及有操纵权者做出足以对儿童健康、生存、生长发育及尊严造成实际或潜在伤害的行为,包括躯体虐待、情感虐待、性虐待、忽视和剥夺等[1]。研究表明,童年创伤占抑郁风险归因的54%[2],约46%的抑郁症患者在童年期经历过严重创伤[3],且童年创伤增加自伤、自杀和攻击等行为发生的风险[4-6]。影像遗传学(imaging genetics)将影像学和遗传学结合,探究遗传变异对大脑结构、功能的影响,可关联分析神经精神疾病风险基因、大脑活动和临床表现之间的相互关系,对深入理解精神疾病的病理机制具有重要意义[7-8]。遗传因素对抑郁症发病风险的贡献高达40%,其与童年创伤相互作用使得患者脑功能和结构出现异常,进而加重抑郁程度[9-11]。

关键词： 间变性大细胞淋巴瘤   免疫表型   遗传学  

摘要： 间变性大细胞淋巴瘤(ALCL)是T细胞非霍奇金淋巴瘤(Non-Hodgkin Lymphoma,NHL)的一个特殊亚型。ALK+和ALK-ALCL在发病年龄、结外侵犯和预后方面都有所不同;ALCL在形态学上具有特征性的生长方式及典型的标志细胞;CD30是ALCL特征性的标记物,多数病例可表达ALK蛋白;t(2;5)(p23;q35)是ALCL中最常见的染色体易位。本文就ALCL的临床特点、形态学特点、免疫表型、遗传学改变、病理学诊断与鉴别诊断几个方面进行综述。

关键词： 胎儿心脏   糖耐量实验   唐氏筛查   遗传学检测   产前超声   肺动脉瓣环   近亲婚配   超声检查  

摘要： 孕妇,26岁,孕1产0,既往体健,孕期无吸烟、饮酒等其他不良因素,配偶体健,非近亲婚配。孕期在烟台山医院定期产检,唐氏筛查低风险,糖耐量实验空腹血糖5.83 mmol/L,餐后1 h血糖10.58 mmol/L,孕24周胎儿系统排畸超声检查示胎儿心脏三尖瓣回声增强,肺动脉瓣环内径2.5 mm,建议随诊复查。

关键词： 光遗传学   细菌   基因调控   合成生物学  

摘要： 光遗传学技术利用光作为输入信号,能够精准地调控细胞的生理功能,同时具有高度的时间和空间特异性,使得构建高度动态的调控系统成为可能.近年来,随着新型光敏蛋白的发现和光照系统的创新,基于光遗传学技术的光控系统的效率得到了显著提高.通过合成生物学方法构造各种生物回路,光控系统在细菌中的应用也日益广泛.将光控系统作为输入模块,与其他生物功能模块相结合,能够实现对基因表达、蛋白质活性以及细菌生理功能的调控.本文主要介绍光遗传学技术的基本原理及其在合成生物学和调控细菌生命活动方面的应用.