Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Community evacuation following a chlorine release, Mississippi

On 7th September 1986, four miles north of Collins, Mississippi, a train transporting chlorine derailed. Two cars ruptured and gas escaped. As a result, 100 families were evacuated. To study the evacuation process, we conducted person-to-person interviews with sixty-two families staying in the evacuation center. Only 52.5% of the families received their first directive to evacuate directly from police or other officials. Delays in evacuating tended to be shorter when people were warned by the police and were told the reason for evacuating. Lack of personal transportation and preexisting health problems resulted in delays in evacuation. Concerns about evacuation included fear of looting, lack of a place to go, lack of transportation, difficulty in moving with children and elderly persons, and the need to take care of pets. One third of the interviewees reported feeling panic. Community evacuation procedures would be improved if: (1) officials contact all households directly; (2) the warning message addresses people's concerns; and (3) transportation is provided.     

The Economics of Small Photovoltaic Systems for Village Energy Supply

After several years of experimentation and demonstration, photovoltaic (PV) power is now firmly established for certain applications where reliable power is required in remote locations. The technology has recently matured to the point where PV is now an appropriate, cost-effective technology for village use. This paper reviews experience and presents economic comparisons between photovoltaic and conventional power systems. It is concluded that PV is cost-effective for individual home lighting and small loads such as radios, when compared with kerosene lamps and batteries. For mutiple uses PV is cost-effective compared with diesel generators for daily electricity demands up to around 20 kWh, depending on local conditions.     

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

Variability in larval development of the tropical reef fish Pomacentrus amboinensis (Pomacentridae): the parental legacy

The effects of food availability, female size, and social interactions on the quality of Pomacentrus amboinensis larvae at hatching were examined using two field-based experiments. In Experiment 1, food availability and female size significantly influenced size, eye diameter and levels of yolk reserves of larvae at hatching. Small females (47 to 52 mm standard length, SL) whose diets were not supplemented, produced the longest larvae (3.0 ± 0.01 mm total length, TL) with the least yolk reserves (50.1 ± 1.04 μm²). Irrespective of female size, those that received additional food produced larvae with the largest yolk-sacs (large females: 87.60 ± 1.53 μm²; small females: 80.14 ± 1.24 μm²). In Experiment 2, interactions with conspecifics had a greater affect on the somatic development of larvae at hatching than food availability. Increased social interactions resulted in larvae that were ⋍3% longer, with 2% greater head depth, than larvae from females that spawned in isolation on the experimental reefs. Fed females produced larvae with ⋍20% more yolk than larvae from females whose diets were not supplemented. All three factors (food availability, female size, and intensity of social interactions) tested within these experiments vary spatially and temporally among reefs. There is the potential, therefore, for larvae at the onset of the planktonic stage to vary in quality, level of development, and probability of survival. Received: 12 August 1996 / Accepted: 26 August 1996     

Material suppliers and industrial metabolism

Life Cycle Assessment (LCA) is not sufficiently tailored to the analysis of strategic environmental problems of material suppliers. Sustainable development calls for a reduction by a factor of 10 to 20 in the material intensity of the economy, a situation which leads to dramatic shifts in markets for raw materials. Furthermore, a material supplier might have major improvement options in the material’s numerous downstream uses. LCAs, however, can’t cover these two aspects. An adapted form of Substance Flow Analysis (SFA) may be an answer. This approach defines a system in relation to the flow of a specific material through society. All environmental interventions related to the material are inventoried. An emission evaluation indicates the dominant environmental bottlenecks, given the current market volume of each application of the material. This helps to identify improvement options and strategic choices in market portfolios. Scenario analysis on potential measures can further indicate changes of material flows — and thus markets — in the system. The approach is illustrated with a case study on chlorine.     

Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.