Prenatal and presymptomatic diagnosis of the marfan syndrome using fluorescence pcr and an automated sequencer

The Marfan syndrome (MFS) is a heritable connective tissue disorder characterized by skeletal, ocular, and cardiovascular abnormalities. Defects in fibrillin, an elastin-associated microfibrillar protein, are now known to cause MFS. Since the discovery of fibrillin as the gene responsible for MFS, requests for prenatal and presymptomatic diagnosis have become common-place. Here we report the use of the polymerase chain reaction (PCR), using fluorescence labelled primers and an automated sequencer, to establish linkage data for “molecular diagnosis”. The mistaken clinical diagnosis of MFS based on the appearance of a common cardiovascular manifestation, mitral valve prolapse, and a positive family history is also discussed.     

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata,ichthyosis, and Kallmann syndrome due to an Xp deletion

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.     

Examination of hydroxamate-siderophore production by neritic eukaryotic marine phytoplankton

Species of neritic eukaryotic marine phytoplankton were investigated during 1982 for hydroxamate-type siderophore production under iron-sufficient and iron-deficient culture conditions. Three of the 5 Prorocentrum species examined produced siderophores. Prorocentrin, the extracellular hydroxamate-type siderophore isolated from P. minimum, was also produced by P. mariae-lebouriae and P. gracile. P. maximum and P. micans grew poorly in iron-deficient medium and did not produce intracellular or extracellular hydroxamate-type siderophores. Thalassiosira pseudonana and Dunaliella tertiolecta produced extracellular siderophores under iron-deficient conditions, but siderophore production was not detected in the other two species, Skeletonema costatum and Olisthodiscus luteus. Each species which produced extracellular Csaky-positive hydroxamate showed a similar pattern of production. Under iron-sufficient conditions there was no measurable siderophore found either intracellularly or extracellularly. Under iron-deficient culture conditions hydroxamate-type siderophore was produced 1 to 2 d after the cessation of growth in the stationary phase. Production was over a short period of time (1 to 2 d) and the siderophore did not remain in the medium. The rate of siderophore disappearance from the medium was similar to the rate of production. Each species which produced siderophores showed an increase in in vivo fluorescence coincidental with the disappearance of the extracellular siderophore from the culture medium. There was no corresponding increase in in vivo fluorescence in iron-sufficient cultures. It is suggested that in vivo fluorescence may be used as a screening procedure for determining hydroxamate-type siderophore production in eukaryotic phytoplankton. An hypothesis on the iron uptake mechanism is proposed.     

An Age-Structured Demographic Model for the Endangered Stephens' Kangaroo Rat

Effective conservation of endangered species often is hampered by inadequate knowledge of demography. We extracted information on survival and fecundity from an 18-month, live-trapping study of Dipodomys stephensi , and from this we developed an age-structured demographic model to assess population viability. Adult Stephens' kangaroo rats persisted longer than juveniles, and adult females persisted longer than adult males. Disappearance rates were high in the first months after initial capture. Thereafter, the fraction of animals persisting decreased slowly and in an approximately linear fashion on a semilogarithmic scale, suggesting age-independent mortality factors such as predation. Juvenile persistence did not differ substantially between two years of strikingly different rainfall. Onset of breeding followed the start of winter rains. Length of the breeding season, average number of litters per female, and the fraction of first-year females breeding were much greater in the year of higher rainfall. We propose a birth-pulse demographic model for D. stephensi that distinguishes juvenile and adult age classes. Temporal environmental variation can be modeled adequately with a constant survivorship schedule and variable fecundity determined by yearly precipitation. Several issues should be resolved, however, before conservation decisions are based on the model. Better estimates of juvenile survivorship are critical, the quantitative relationship between precipitation and fecundity must be determined, and the potential for density dependence and source-sink population dynamics must be evaluated.     

Magpies' tails: damage as an indicator of quality

Quality-indicating sexually selected traits may have their honesty maintained by their costs or by an inherent “revealing” nature. Long tails in birds are usually considered to be costly “handicaps”, but may have additional potential as revealing indicators through the incidence of breakage. Magpies Pica pica with unbroken and less abraded tails paired earlier, but did not nest or fledge young earlier than pairs with tails in poorer condition. Pairs mated assortatively by tail quality, and magpies with very broken tails remained unmated. Pairs in which both members had almost undamaged tails fledged more offspring than pairs with poorer tails. Tail quality did not correlate with the extent of any habitat type in the territory. Tail damage thus honestly indicated a magpie's reproductive potential, and the data are consistent with its having a role in mate choice, as a revealing element of tail morphology. Received: 28 March 1996 / Accepted after revision: 9 December 1996     

广东省耕地分等中的土壤肥力评价指标体系

土壤肥力评价是耕地分等的基础及重要组成部分。土壤肥力评价的关键是评价指标体系的确定，指标的选择原则主要有主导性原则、稳定性原则、差异性原则、分层次控制原则、定量分析与定性分析相结合原则。指标分值和权重的确定方法主要是模糊评价法和层次分析法，但必须依据土壤学的研究成果和生产实践经验。     

Effects of river-flow regulation on anuran occupancy and abundance in riparian zones

The natural flow regimes of rivers worldwide have been heavily altered through anthropogenic activities, and dams in particular have a pervasive effect on riverine ecosystems. Flow-regulation effects of dams negatively affect species diversity and abundance of a variety of aquatic animals, including invertebrates and fishes. However, the effects on semiaquatic animals are relatively unknown. We conducted anuran calling surveys at 42 study locations along the Broad and Pacolet Rivers in South Carolina to address the potential effects of flow regulation by damming on anuran occupancy and abundance. We estimated occupancy and abundance with Program PRESENCE. Models incorporated distance upstream and downstream from the nearest dam as covariates and urbanization pressure as an alternative stressor. Distance from dam was associated with occupancy of 2 of the 9 anuran species in our analyses and with abundance of 6 species. In all cases, distance downstream from nearest dam was a better predictor of occupancy and abundance than distance upstream from nearest dam. For all but one species, distance downstream from nearest dam was positively correlated with both occupancy and abundance. Reduced occupancy and abundance of anurans likely resulted from downstream alterations in flow regime associated with damming, which can lead to reduced area of riparian wetlands that serve as anuran breeding habitat. Our results showed that damming has a strong negative effect on multiple anuran species across large spatial extents and suggest that flow regulation can affect semiaquatic animals occupying riparian zones.     

Coupled changes in oxygen concentration and pH caused by metabolism of benthic coral reef organisms

Benthic marine primary producers affect the chemistry of their surrounding environment through metabolic processes. Photosynthesis and respiration will elevate or depress the concentration of oxygen in the diffusive boundary layer. Likewise, acid–base regulation and biomineralization/dissolution for calcifying species can alter the relative concentration of inorganic carbon species and thus pH. Here, we measured the relative ability of several common benthic primary producers from coral reef systems of the central Pacific and the Caribbean to simultaneously affect seawater oxygen concentration and pH values. Repeated measurements over a diel cycle confirmed that several primary producers substantially alter surrounding seawater chemistry over time. The majority of fleshy algae exhibited a stoichiometric ratio of oxygen to hydrogen ions not significantly different from one during daylight hours. In contrast, calcifiers exhibited significantly lower oxygen to hydrogen ion ratios that were unique for each species and were inversely correlated with known rates of calcification. These data provide the first quantitative estimates of the simultaneous influence of several species of benthic primary producers on water column oxygen concentrations and pH across different tropical reef systems. Finally, because more productive fleshy taxa have the potential to raise both oxygen and pH during the day to a greater extent than calcified species, our results suggest that some fleshy taxa may provide a buffering capacity to future ocean acidification scenarios.     

Organizational exit pressures and role stress: Impact on mental health

Hypotheses regarding role stress, chronic burden and two forms of vulnerability to mental health symptoms are tested in a longitudinal sample of 590 caregivers working in group homes for the mentally ill. In addition, an organizational exit pressure hypothesis is offered. Measures of exit pressure are identified and incorporated into predictive models of stress and mental health. Exit pressures affect somatization directly and interact with role ambiguity to affect subsequent levels of anxiety and somatization. The results suggest that selection pressures in and out of social settings should be conceptualized as part of models of stress and mental health.