As physicalisms of various kinds have faced difficulties in recent years, the time has come to explore possible alternatives, one of which is yinyang ontology. A yinyang theorist is expected to provide a plausible acc...As physicalisms of various kinds have faced difficulties in recent years, the time has come to explore possible alternatives, one of which is yinyang ontology. A yinyang theorist is expected to provide a plausible account of causation to replace the traditional notion of causation. The present paper is critical of the Humean tradition, which understands the relata of causal relations in terms of passive materiality so that humans use referential terms to describe causal relations constructively. But an alternative notion of reference is available according to which causal relata are active processors of the information with which they interact. On this latter view, humans use referential language to describe the structure in which the relata interrelate themselves so that the structure can be understood hermeneutically. Reference on this view is naturalized. In this article, I advance two arguments for this thesis, one concerning the informationality of states and the other related to the essentiality of properties.展开更多
A couple with a proband child of GJB2 （encoding the gap junction protein connexin 26）-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Ou...A couple with a proband child of GJB2 （encoding the gap junction protein connexin 26）-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a cus- tomized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagno- sis （PGD）, noninvasive prenatal testing （NIPT）, and noninvasive prenatal diagnosis （N1PD） into the strategy. Auditory and ge- netic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a sin- gleton pregnancy. At the 13th week of gestation, genomic DNA （gDNA） from the trio family and cell-free DNA （cfDNA） from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by inva- sire procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing im- pairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.展开更多
文摘As physicalisms of various kinds have faced difficulties in recent years, the time has come to explore possible alternatives, one of which is yinyang ontology. A yinyang theorist is expected to provide a plausible account of causation to replace the traditional notion of causation. The present paper is critical of the Humean tradition, which understands the relata of causal relations in terms of passive materiality so that humans use referential terms to describe causal relations constructively. But an alternative notion of reference is available according to which causal relata are active processors of the information with which they interact. On this latter view, humans use referential language to describe the structure in which the relata interrelate themselves so that the structure can be understood hermeneutically. Reference on this view is naturalized. In this article, I advance two arguments for this thesis, one concerning the informationality of states and the other related to the essentiality of properties.
基金supported by the National Program on Key Basic Research Project(2014CB943001 and 2012CB944700)the National Natural Science Foundation of China(81120108009 and 81530032)+3 种基金the National Health and Family Planning Commission of the People's Republic of China(201402004)Science and Technology Plan of Guangdong Province(2013B022000005)Guangdong Enterprise Key Laboratory of Human Disease Genomics(2011A060906007)Shenzhen Engineering Laboratory for Birth Defects Screening([2011]861)
文摘A couple with a proband child of GJB2 （encoding the gap junction protein connexin 26）-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a cus- tomized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagno- sis （PGD）, noninvasive prenatal testing （NIPT）, and noninvasive prenatal diagnosis （N1PD） into the strategy. Auditory and ge- netic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a sin- gleton pregnancy. At the 13th week of gestation, genomic DNA （gDNA） from the trio family and cell-free DNA （cfDNA） from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by inva- sire procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing im- pairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.
