Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.     

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

北方高纬度地区生态系统动态、生物多样性管理及社会政策

由于受到众多因素大规模作用的影响,高纬度地区生态系统的变化异常活跃.这些地区的生态系统非常脆弱,各种全球变化过程都在影响着可更新林木资源持续生产和当地社会赖以生存的动植物资源丰度.本文对于北半球高纬度地区生态系统的一些新认识及其(所包含的)意义进行了讨论,并对提高生态系统的恢复力所采取的必要管理措施进行了探讨.认为在生态系统面临各种变化和干扰时系统管理的焦点应该从系统的恢复转移到系统功能的维系上来.生物多样性的作用是确保生态系统在经历干扰和重组时能够进行重组和发展,这一作用应该在系统管理与相关的方针政策中得到重视.强调应重新考虑现在的生态保护区的概念以发展一些动态的管理方法,使生态系统在面临环境变化时能够进行可持续的管理.而高纬度地区一些土著人习惯性的生态保护区的特点与那些对保护区进行动态保护的观点往往是一致的.针对高纬度地区动态景观中的生物多样性管理我们提出了新的发展方向,并从非传统的观点方面为其提供了经验例证.这些非传统的观点与看法可能会有助于提高生物多样性可持续管理和生态系统功能发挥的潜力.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.