从《老子想尔注》看早期道教构建理想社会的初步尝试

《老子想尔注》认为实现理想社会的前提条件是"尊道",在这里,道不仅是一个哲学概念,还被发挥成至高无上的太上老君,成为理想社会的掌控者。《老子想尔注》理想社会的理论在批判现实问题的基础上展开论述,主要讨论了君臣关系、伦理道德和贫富差异等。维系理想社会秩序的手段是道诫,道诫超越法律,内涵丰富。     

从《老子指归》到《老子想尔注》修持观的变化探微

《老子指归》与《老子想尔注》不仅均为借《老子》一书阐发自己思想的著作,而且二者间又有着诸多的内在联系。从成书年代上看,前者成书于西汉末年,后者成书于东汉末年,两书的时间跨度不大。从成书地域上看,二者都创作于蜀中的成都地区。因而,后者在阐发自己的思想旨要的同时不可避免地会借鉴和改造前者的思想。更为重要的是,两者思想旨趣的差异反映了当时道教对道家哲学的改造和自身理论的建构过程。从二者所持修持观的变化的视角,可以明显见出这一改造和建构过程。     

《老子》著述体例及成书形式

汉魏以前,《老子》著述体例及成书形式几经变迁,已经基本定型;魏晋以后,《老子》纳入经注和注疏范畴,其著述体例及成书形式进入"变形期"。总的说,《老子》著述成书之变化,集中表征为三个事项:《老子》的书名题写,从无名到有名,有的题为"道德言",有的题为"道德经",有的题为"老子";《老子》篇章结构,从楚简本的"分组别段",渐进演变到《老子》"分篇定章"结构;《老子》著述性质,历经个人著述、学派撰述、经传及注疏等四度变迁。     

政府的责任

近日读了一本书，《老子他说》，是台湾著名国学大师南怀瑾先生关于《老子》的讲记，出版于上个世纪80年代。而《老子》（也叫《道德经》）的作者老子（李耳，字伯阳．又称老聃）与他的著作，据今已有几千年历史。几千年来人们都在研究《老子》，外国学者也在研究老子。     

“人法地”及其现代意义:新道家发凡

当代新道家的建立必须立足于中国现实,解决现时代的根本问题,即重建中华之思想、道德、制度、社会,并重新联接四者,俾使旧邦绽放新命。在老子那里,个体是具有哲学意义的。个体得以凭藉其独特却可普遍感受的生命体验,抗拒普遍必然性的权力命令,拒绝依据普遍必然性的科学论证而违背心中的鉴赏判断。人怎样以合于道的方式在此世生存,取决于现世的人之"德"如何得到规定。人在世上是以"群"的方式生存的。在老子看来,人之"群"的划分方式是:"人法地"。风俗是每一地风土与人情的最佳融合,也是当地人在其中的最佳生活方式。正是以风俗为核心的地域传统,使得生活在这片土地上的人得以成"群",构成呼吸与共的"家邦"——文化—政治共同体。这也正是老子给予今天的最佳启示——只有让传统文化与基层社会组织相融合,才能保障人的自然与自由。     

中国环保NGO的先行者——自然之友

1993年6月5日,自然之友的几位发起人举办了中国首次民间自发的环境研讨会--"玲珑园会议".1994年3月31日,自然之友成立,标志着中国第一个在国家民政部注册成立的民间环保团体诞生,创始人是梁从诫、杨东平,梁晓燕和王力雄.其中,全国政协委员,中国文化书院导师梁从诫教授任会长,社会文化和教育问题专家杨东平教授任副会长.     

道德经中的环境思想

李聃的《道德经》成于春秋末期,是中国最早的系统哲学名著,它奠定了道家思想的理论基石。数千年来,尽管人们对《道德经》的作用和意义争论不休,贬褒参差,但它仍以博大精深的思想影响着中国和世界文明的发展。 现代自然科学为我们研究社会科学提供了很多佐证,在环境科学不断发展及人类环境意识不断提高的今天,重读《道德经》,探寻挖掘我们民族文化宝库中的环境学潜力,是很有意义的。 “道”老子是这样说的“有物混     

丹青绘生态 翰墨颂环保——写在“绿水青山就是金山银山 美丽中国·广东生态文明艺术双年展”观后感

<正>中华民族向来尊重自然、热爱自然,绵延5000多年的中华文明孕育着丰富的生态文化。《易经》中说,“观乎天文,以察时变;观乎人文,以化成天下”,“财成天地之道,辅相天地之宜”。《老子》中说：“人法地,地法天,天法道,道法自然。”《齐民要术》中有“顺天时,量地利,则用力少而成功多”的记述。这些观念都强调要把天地人统一起来、把自然生态同人类文明联系起来,     

丽江老君山国家公园

"道可道,非常道.名可名,非常名.无名天地之始;有名万物之母.故常无,欲以观其妙.常有,欲以观其微.此两者同出而异名,同谓之玄.玄之又玄,众妙之门."--老子     

华夏礼乐衰微的哀歌:颜之推《观我生赋》题旨发覆

受家学渊源影响,颜之推自幼学习儒家经典,终生服膺以礼乐文化为中心的儒家思想。颜之推在萧梁斥道专儒、用心儒学,在西魏涉险偷渡、执意南归,在北齐建文林馆、反对胡风、主张归陈,在杨隋复雅乐、归正音、立家训。《观我生赋》篇名取自儒家经典《周易》"观"卦,"观我生"已经不限于个体本身,而是融入群体,趋向儒家礼乐教化之道,这也是"观"卦观民设教的本义。《观我生赋》中,颜之推以身合道,将自己的人生遭遇与华夏礼乐文化的衰微紧密结合,以孔子"泣麟"结束,用春秋末期的礼崩乐坏类比当下道消势长带来的信仰之殇,悲恸情绪与赋作开篇遥相呼应,实为华夏礼乐衰微之哀歌。     

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.     

Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

Prenatal molecular diagnosis in RASA1-related disease

RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.     

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis

Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. We diagnosed arginase deficiency in a three-year-old male child of first-cousin Palestinian Arab parents. Prenatal diagnosis of an unaffected fetus was achieved in the second trimester of a subsequent pregnancy by cordocentesis and analysis of arginase activity in fetal erythrocytes. ARG1 mutation analysis in the proband revealed homozygosity for a deletion of 10 753 bp extending from the first intron to beyond the poly (A) site of the gene. This is the first gross deletion in the ARG1 gene to be identified and the first mutation to be described in an arginase-deficient patient of this ethnic origin. The identification of the ARG1 deletion in this family enabled first-trimester prenatal diagnosis in a subsequent pregnancy by multiplex PCR analysis performed on chorionic villous DNA. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal diagnosis of free sialic acid storage disorders (SASD)

Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal storage diseases due to impaired function of a sialic acid transporter, sialin, at the lysosomal membrane. Several mutations of the sialin gene, SLC17A5, are known, leading either to the severe neonatal/infantile disease or to the milder, adult-type developmental disorder, Salla disease. Free sialic acid accumulation in lysosomes causes increased tissue concentration and consequently elevated urinary excretion. Prenatal diagnosis of SASD is possible either by determination of free sialic acid concentration or by mutation analysis of the SLC17A5 gene in fetal specimen, in chorionic villus biopsy particularly. Both techniques have been successfully applied in several cases, sialic acid assay more often in ISSD cases but mutation analysis preferentially in SD. Sialic acid assay of amniotic fluid supernatant or cultured amniotic fluid cells may give erroneous results and should not be used for prenatal diagnosis of these disorders. The present comments are mainly based on our experience of prenatal diagnosis of SD in Finnish families. A founder mutation in SLC17A5 gene, 115C-> T, represents 95% of the disease alleles in the Finnish SD patients, which provides a unique possibility to apply mutation analysis. Therefore, molecular studies have successfully been used in 17 families since the identification of the gene and the characterization of the SD mutations. Earlier, eight prenatal studies were performed by measuring the free sialic acid concentration in chorionic villus samples. Copyright © 2006 John Wiley & Sons, Ltd.     

Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient

Smith–Lemli–Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detection of elevated 7-dehydrocholesterol or of SLOS-causing mutations in the DHCR7 gene. We report here our experience with molecular prenatal diagnosis of SLOS. Mutation analysis of the DHCR7 gene was performed in chorionic villus samples of 13 pregnancies of couples with a family history of SLOS and known SLOS genotypes. This approach is accurate and reliable. If facilities for biochemical analysis are not available, or in cases with ambiguous biochemical patterns, molecular prenatal diagnosis is an attractive, alternative option. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Pfeiffer syndrome type II

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history. Copyright © 2004 John Wiley & Sons, Ltd.     

Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction,skeletal, cerebral and vascular anomalies

Germline pathogenic variants in isocitrate dehydrogenase 1 (IDH1) can lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. To the best of our knowledge, no prenatal case of an IDH1 pathogenic variant has been reported in literature. Somatic sequence variants in IDH1/2 genes are described in distinct cancers, premalignant diseases and rare inherited metabolic disorders. Amniocentesis and further genetic testing including trio exome sequencing were performed due to suspicious findings on a second trimester routine prenatal ultrasound examination. The fetus was found to have growth restriction, cerebral abnormalities (ex vacuo hydrocephalus, cerebellar and vermian hypoplasia, corpus callosum dysgenesis), brachycephaly, narrow chest, persistent left superior vena cava, liver calcifications, hyperechogenic bowel, short tubular bones and joint contractures. A de novo heterozygous variant in the IDH1 gene was detected via trio exome sequencing. The prenatal diagnosis of a de novo pathogenic variant in IDH1 in a fetus with the described phenotype, obtained through trio exome sequencing, helped parents and providers with an informed decision making about pregnancy management.     

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

Objective

In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.

Materials and Methods

We enrolled 22 eukaryotic fetuses of 18 families, diagnosed with fetal akinesia between 2008 and 2016 at the Department of Obstetrics and Feto-Maternal Medicine at the Medical University of Vienna. Routine genetic evaluation included karyotyping and chromosomal microarray analysis. Retrospectively, exome sequencing was performed in the index case of 11 families, if stored DNA was available. Confirmation analyses and genetic diagnosis of siblings were performed by using Sanger sequencing.

Results

Whole exome sequencing identified pathogenic variants of CNTN1, RYR1, NEB, GLDN, HRAS and TNNT3 in six cases of 11 families. In three of these families, the variants were confirmed in the respective sibling.

Conclusions

The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive. Still, in a large part the underlying genetic cause remained unknown, whereas precise clinical evaluation in combination with exome sequencing shows to be the best tool to find the disease causing variants.