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. 相似文献
Thirty-nine (2.3 per cent) of 1724 chromosome studies from diagnostic chorionic villus samplings (CVS) done between 1983 and 1990 showed either level III (true) mosaicism (1.2 per cent) or level II (pseudo-) mosaicism (1.1 per cent) for chromosomal aneuploidy. Follow-up information on these 39 pregnancies was collected from questionnaires to families, paediatricians, and obstetricians. For all cases in which the pregnancy was continued and further testing was accomplished, the mosaicism was felt to be confined to the placenta. As compared with a control group of pregnancies evaluated by CVS with normal karyotypes, there was no increased incidence of pregnancy loss, congenital malformations, or developmental delay in the infants. Although intrauterine growth retardation occurred in several of the level III mosaic cases, adequate catch-up growth has been demonstrated. 相似文献
The structure of social animal groups can be dynamic, characterized by high rates of group fission and fusion. Despite this,
group composition is often well ordered by factors such as species, body size and by numerous other phenotypic traits. Research
in shoaling fishes has revealed that individuals refine group membership decisions still further and are capable of assimilating
chemical cues pertaining to recent habitat and prey use by prospective group mates, preferring to associate with others whose
recent resource use history closely matches their own. In this study, we firstly examined the dynamics of the formation and
breakdown of these preferences, revealing that they can be acquired and replaced in a matter of just a few hours. Using such
cues enables individuals to accurately assess the resource use of conspecifics, allowing them to indirectly sample the local
environment while reducing the chances of acquiring outdated information that can precipitate maladaptive behaviors. Secondly,
we found that shoals composed of individuals with shared recent habitat use history were more cohesive compared to those where
the constituent individuals differed in recent habitat use. Increased shoal cohesion may reduce predation risk, and could
enhance the ability of individuals to detect and use social information. 相似文献
Summary. HPLC analysis of secondary metabolites represents an efficient tool for the studying of plant chemical diversity under different
aspects: chemotaxonomy, metabolomics, adaptative responses to ecological factors, etc. Statistical analyses of HPLC databases,
e.g. correlation analysis between HPLC peaks, can reliably provide information on the similarity/dissimilarity degrees between
the chemical compounds. The similarities, corresponding to positive correlations, can be interpreted in terms of analogies
between chemical structures, synchronic metabolisms or co-evolution of two compounds under certain environment conditions,
etc. . In terms of metabolism, positive correlations can translate precursor-product relationships between compounds; negative
correlations can be indicative of competitive processes between two compounds for a common precursor(s), enzyme(s) or substrate(s).
Furthermore, the correlation analysis under a metabolic aspect can help to understand the biochemical origins of an observed
polymorphism in a plant species. With the aim of showing this, we present a new approach based on a simplex mixture design,
Scheffé matrix, which provides a correlation network making it possible to graphically visualise and to numerically model
the metabolic trends between HPLC peaks. The principle of the approach consisted in mixing individual HPLC profiles representative
of different phenotypes, then from a complete mixture set, a series of average profiles were calculated to provide a new database
with a small variability. Several iterations of the mixture design provided a smoothed final database from which the relationships
between the secondary metabolites were graphically and numerically analysed. These relationships were scale-dependent, namely
either deterministic or systematic: the first consisted of a monotonic global trend covering the whole variation field of
each metabolites’ pair; the second consisted of repetitive monotonic variations which gradually attenuated or intensified
along a global trend. This new metabolomic approach was illustrated from 404 individual plants of Astragalus caprinus (Leguminoseae), belonging to four chemical phenotypes (chemotypes) on the basis of flavonoids analysed in their leaves. After
smoothing, the relationships between flavonoids were numerically fitted using linear or polynomial models; therefore the co-response
coefficients were easily interpreted in terms of metabolic affinities or competitions between flavonoids which would be responsible
of the observed chemical polymorphism (the four chemotypes). The statistical validation of the approach was carried out by
comparing Pearson correlations to Spearman correlations calculated from the smoothed and the crude HPLC database, respectively.
Moreover, the signs of the smoothed relationships were finely supported by analogies and differences between the chemical
structures of flavonoids, leading to fluent interpretation in relation to the pathway architecture. 相似文献
We quantified the stability of nine stream fish assemblages by calculating coefficients of variation of population size for
assemblage members. Coefficients of variation were high and averaged over 96%; indicating that most assemblages were quite
variable. Coefficient of variation (CV) estimates were not significantly affected by: (1) years of study, (2) mean abundance,
(3) familial classification, or (4) mean interval between collections. We also detected minor regional differences in CVs.
The high variability exhibited by many stream fish assemblages suggests that it may be difficult to detect the effects of
anthropogenic disturbances using population data alone. Consequently, we urge managers to exercise caution in the evaluation
of the effects of these disturbances. More long-term studies of the ecological characteristics of undisturbed stream fish
assemblages are needed to provide a benchmark against which disturbed systems can be compared.
We suggest that CVs are a better estimator of population/assemblage stability, than either Kendall's W or the standard deviation
of the logarithms of numerical censuses. This conclusion is based on the following reasons. First, CVs scale population variation
by the mean and, hence, more accurately measure population variability. Second, this scaling permits the comparison of populations
with different mean abundances. Finally, the interpretation of CV values is less ambiguous than either of the aforementioned
metrics. 相似文献
The continuous discharge of diverse chemical products in the environment is nowadays of great concern to the whole world as some of them persist in the environment leading to serious diseases. Several sampling techniques have been used for the characterization of this chemical pollution, although biomonitoring using natural samplers has recently become the technique of choice in this field due to its efficiency, specificity, and low cost. In fact, several living organisms known as biomonitors could accumulate the well-known persistent environmental pollutants allowing their monitoring in the environment. In this work, a review on environmental biomonitoring is presented. The main sampling techniques used for monitoring environmental pollutants are first reported, followed by an overview on well-known natural species used as passive samplers and known as biomonitors. These species include conifer needles, lichen, mosses, bees and their byproducts, and snails, and were widely used in recent research as reliable monitors for environmental pollution.
Goal, Scope and Background Atmospheric sampling (gas and particles) of 5 phenols (phenol, m-cresol, p-cresol, o-cresol, pentachlorophenol) and 15 nitrophenols
(3-methyl-2-nitrophenol, 3-nitrophenol, 4-methyl-2-nitrophenol, 5-methyl-2-nitrophenol, 2-methyl-3nitrophenol, 3-methyl-4-nitrophenol,
2,6-dinitrophenol, bromoxynil, 2,5-dinitrophenol, 2,6-dinitro-p-cresol, 2,4-dinitrophenol, ioxynil, DNOC, 3,4-dinitrophenol,
dinoseb) on XAD-2 resin (20 gr) and glass fibre filters, respectively, were performed in 2002 by using 'Digitel DA80' high
volume samplers. These measurements were undertaken in order to show spatial and geographical variations of concentrations
and the role of traffic in the emissions of these compounds to the atmosphere.
Methods Sampling were performed in Strasbourg (eastern France), in its vicinity (Schiltigheim) and in Erstein. Sites were chosen
to be representative of urban (Strasbourg), suburban (Schiltigheim) and rural (Erstein) conditions. Field campaigns were undertaken
simultaneously in urban and suburban sites during all the seasons during 4 hours at a flow rate of 60 m3.h-1, which gives
a total of 240 m3 of air per sample. Period of sampling varied between 06h00 to 10h00, 11h00 to 15h00 and 18h00 to 22h00 in
order to evaluate a variation of concentration during automobile traffic between urban, suburban and rural areas. Gas and
particle samples were separately Soxhlet extracted for 12 h with a mixture of CH2Cl2 / n-hexane (50:50 v/v), concentrated
to about 1 mL with a rotary evaporated and finally dried under nitrogen. Dry extracts were dissolved in 1 mL of CH3CN. Before
analysis, extracts were sylilated by using MTBSTFA. Analysis was performed by GC/MSD in the SIM mode.
Results and Discussion Partitioning of phenolic compounds between gas and particle phases seems to be mainly correlated with vapour pressure. Among
phenolic compounds analysed, phenol, p-cresol, pentachlorophenol and 2.4-dinitrophenol were detected in all samples and emissions
from traffic seems to be the major source for the presence of these compounds to the atmosphere. No increase of concentrations
in autumn tend to confirm this hypothesis since, with the use of domestic heating in colder months, increases of PAHs concentrations
were observed and these compounds are known to be emitted by all combustion processes.
Pentachlorophenol is a special case since this molecule is only used as wood preservative. Its presence in all atmospheric
samples, whatever the locations and the period of time is the consequence of its persistence.
Conclusions and Perspectives These measurements demonstrate that phenols and nitrophenols are emitted to the atmosphere and further measurements, in order
to confirm their sources, their behaviour and their potential impact to the air quality and to human health should be undertaken
especially since the literature collected is relatively old. Concentrations of pentachlorophenol measured are very low and,
due to its toxicity, further investigations should be undertaken.
- * The basis of this peer-reviewed paper is a presentation at the 9th FECS Conference on 'Chemistry and Environment', 29 August
to 1 September 2004, Bordeaux, France. 相似文献
The Clean Air Act, Public Law 88-206, was signed into law on December 17, 1963. Among the new provisions was the authorization given to the Secretary of the Department of Health, Education, and Welfare to award grants for the support of State and local air pollution control programs. The Chief, Division of Air Pollution, then requested the Surgeon General’s Air Pollution Training Committee to make recommendations for the most effective way to train the required numbers of people. The Committee called a special three-day meeting at Airlie House with about 30 consultants. Recommendations for training stemming from the meeting included: (1) University-based programs combined with practical experience in control program. (2) Criteria for the selection of trainees. (3) The outline of a model program. These recommendations were submitted to the Chief, Division of Air Pollution and are currently reflected in the activation of one program and a request to the Congress for funds to initiate two more such programs during Fiscal Year 1966. 相似文献
Abstract During the 1950s and 1960s, hundreds of thousands of underground storage tanks (and above-ground storage tanks) containing petroleum products and hazardous chemicals were installed. Many of these tanks either have been abandoned or have exceeded their useful lives and are leaking, thereby posing a serious threat to the nation’s surface and groundwater supplies, as well as to public health. Cleaning up releases of petroleum hydrocarbons or other organic chemicals in the subsurface environment is a real-world problem, Biological treatment of hydrocarbon-contaminated soil is considered to be a relatively low-cost and safe technology; however, its potential for effectively treating recalcitrant wastes has not been fully explored. For millions of years, microorganisms such as bacteria, fungi, actinomycete, protozoa, and others have performed the function of recycling organic matter from which new plant life can grow. This paper examines the biological treatment technology for cleaning up petroleum product-contaminated soils, with special emphasis on microbial enzyme systems for enhancing the rate of biodegradation of petroleum hydrocarbons. Classifications and functions of enzymes, as well as the microbes, in degrading the organic contaminants are discussed. In addition, the weathering effect on biodegradation, types of hydrocarbon degraders, advantages associated with enzyme use, methods of enzyme extraction, and future research needs for development and evaluation of enzyme-assisted bioremediation are examined. 相似文献
Many bird species have patches of colour in their plumage, contrasting with their basic coloration, which are used to display
and signal status to conspecifics. These are called ’badges of status’, because they are believed to be low-cost signals of
social status. For a signalling system to be evolutionarily stable, cheating must be controlled. The conventional view is
that there is frequent testing, which uncovers cheats. Recently, the immunocompetence handicap hypothesis (ICHH) suggested
that signals may be dependent on testosterone for their development, with a cost being imposed through immune suppression.
We report experiments on house sparrows (Passer domesticus) which show that testosterone significantly influences the size of the bib (a ’badge of status’). The ultimate effect of
the testosterone manipulation was to impair antibody production, as predicted by the ICHH. However, testosterone manipulations
also changed the levels of the ’stress hormone’ corticosterone. The level of corticosterone was also related to the degree
of immunosuppression. After controlling for the effect of corticosterone, testosterone enhanced the birds’ ability to produce
antibodies, counter to the ICHH. The hypothesis therefore must be modified. We suggest that testosterone has a dual effect:
it leads to immunosuppression through a mechanism involving corticosterone but, conversely, leads to increased immunocompetence
probably via dominance influencing access to resources.
Received: 5 March 1999 / Received in revised form: 1 October 1999 / Accepted: 16 October 1999 相似文献