Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

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     

Effects of equipment loadings on geosynthetic-lined slope behaviour.

When combined in the lining and covering of waste-containment facilities, soil and geosynthetic components protect the environment by acting as a hydraulic barrier. Equipment loading may significantly increase the tensile stress induced in geosynthetic components, leading to a potential stability problem. Large equipment loadings may also result in a localized circular slip surface during construction operations. New analytical method based on discrete element modelling is proposed for estimating the distribution of tensile force developed in the individual geosynthetic components of the lining system and for evaluating the safety factor of slope failure due to equipment loading. The analytical results of an example are presented to demonstrate the applicability of the analytical method for the lining system of a waste landfill. The analyses of the example show that equipment loading provide a substantial increase in the tensile forces of the geosynthetic components of a lining system and that the possibility of shallow failure due to equipment loading increases as the slope becomes steeper. This method is a useful tool for analysing the lining system of waste landfills with complex lining components.     

Utility of stormwater monitoring.

Stormwater runoff is now a major contributor to the pollution of coastal waters in the United States. Public agencies are responding by requiring stormwater monitoring to satisfy the National Pollutant Discharge Elimination System stormwater permit. However, studies to understand the utility of the current programs or to improve their usefulness have not yet been performed. In this paper, we evaluate the land-use-based program, the industrial stormwater permit program, and beach water-quality monitoring in the County of Los Angeles, California, to determine if the results will be helpful to planners and regulators in abating stormwater pollution. The utility of the program has been assessed based on the programs' ability to accurately estimate the emissions for different classes of land use. The land-use program appears successful, while the industrial monitoring program does not. Beach water-quality monitoring suffers from a lack of real-time monitoring techniques. We also provide suggested improvements, such as sampling method and time, and parameter selection.