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.     

Hydrogen storage and distribution systems

Hydrogen storage and transportation or distribution is closely linked together. Hydrogen can be distributed continuously in pipelines or batch wise by ships, trucks, railway or airplanes. All batch transportation requires a storage system but also pipelines can be used as pressure storage system. Hydrogen exhibits the highest heating value per weight of all chemical fuels. Furthermore, hydrogen is regenerative and environment friendly. There are two reasons why hydrogen is not the major fuel of toady’s energy consumption: First of all, hydrogen is just an energy carrier. And, although it is the most abundant element in the universe, it has to be produced, since on earth it only occurs in the form of water. This implies that we have to pay for this energy, which results in a difficult economic task, because since the industrialization we are used to consuming energy for free. The second difficulty with hydrogen as an energy carrier is the low critical temperature of 33 K, i.e. hydrogen is a gas at room temperature. For mobile and in many cases also for stationary applications the volumetric and gravimetric density of hydrogen in a storage system is crucial. Hydrogen can be stored by six different methods and phenomena: high pressure gas cylinders (up to 800 bar), liquid hydrogen in cryogenic tanks (at 21 K), adsorbed hydrogen on materials with a large specific surface area (at T < 100 K), absorbed on interstitial sites in a host metal (at ambient pressure and temperature), chemically bond in covalent and ionic compounds (at ambient pressure), oxidation of reactive metals e.g. Li, Na, Mg, Al, Zn with water. These metals easily react with water to the corresponding hydroxide and liberate the hydrogen from the water. Finally, the metal hydroxides can be thermally reduced to the metals in a solar furnace.     

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.     

A participatory approach to the establishment of a baseline scenario for a reforestation Clean Development Mechanism project

This paper is part of a two-year study to investigate the feasibility of initiating a Clean Development Mechanism (CDM) project in an indigenous community of Eastern Panamá, Ipetí-Emberá. We use participatory mapping and matrices as well as household surveys to develop a land-use/land-cover baseline scenario and examine the role of local participation in assessing land-use change. In Ipetí, land-use change has not occurred in a linear way over the last decades, and our data unveils socio-economic factors as potential key drivers of change. The concordance that we observed between geographic information and individual and collective perceptions of land-use change substantiates the possibility of using local knowledge in the establishment of baseline data for CDM projects. Our calculations suggest that the total carbon (C) stocks in the Tierra Colectiva (TC) of Ipetí-Emberá in 2004 represents a 47% reduction from the estimated C stock at the onset of settlement in the early 1970’s. Results from the participatory assessments predict that, in 2024 and in absence of a CDM project, the C stocks will decline from 301,859 t C in 2004 to 155,730 t C, which constitutes a reduction of 52%. The scenario with CDM estimates C stocks of 305,853 t C for 2024, a value slightly superior to the 2004 value. In the TC there is ground to believe that cattle ranching is likely to become an ever more important activity as the population is young and growing and cannot easily move elsewhere. Forests tend to be cleared for cultivation while pastures are established on short fallows. Our baseline scenario underlines the potential for a CDM project to make a significant difference in the future C stocks of this landscape.