Mucolipidosis IV: Prenatal diagnosis by electron microscopy

Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un- affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.     

Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin

Prenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed. Copyright © 2003 John Wiley & Sons, Ltd.     

A method to determine the effect of mineral dust aerosols on air quality

Natural mineral dust storms (DS) from the Arabo-African region blow over the Mediterranean, reach Israel, and add to the anthropogenic particulate pollution. The effects of mineral dust on air quality in Israel were investigated using only PM10 and PM2.5 automatic measurements. The method does not require any other inputs such as satellite observations, model back-trajectories, dust forecast models, or mineralogical analyses. The method employs an automatic algorithm with three thresholds: the half-hour PM10 average must be above 100, this level is maintained for at least 3 h, and the maximum concentration recorded is above 180 μg m^?3. The algorithm was designed for Israel, but can be adapted for other locations.The contribution of DS caused PM10 values to exceed the Israeli annual standard of 60 μg m^?3 year^?1 in 6 of the 12 years examined. The DS contribution to PM10 annual average ranged from 9.4% to 29.5%. The level recommended by WHO, 20 μg m^?3 year^?1, was exceeded every year even without the DS contribution. The number of days in which the daily Israeli standard (150 μg m^?3) was exceeded during the 12 years was 6–20 days per year. The number of days in which the daily standard was exceeded shows an increasing trend of 7 days per decade.PM2.5 in Israel is in the range 40–56% of PM10. PM2.5 values were over the recommended standard with and without DS. The contribution of DS to annual average of PM2.5 ranged from 3.6% to 19.1%.The automatic algorithm was calibrated with a list of Dust Storms identified by visual means supported by mineralogical analysis. Mineralogical analyses of single particles were performed using Environmental Scanning Electron Microscope (ESEM). Two representative samples are given. The main difference is that the particles of the Saudi-Arabian storm had much more palygorskite, while the North-African storm had more sea-salt and organic particles. The mineral composition differences indicate that analysis can differentiate between sources.     

Characteristics of Resuspension,Settling and Diffusion of Particulate Matter in a Water Column

Experiments were conducted in order to characterize the distributions of concentrations of suspended particulate matter (SPM) in water columns of lakes and reservoirs. The experiments, in a reduced model of the water column, used a set of oscillating grids. Runs were done with particles denser than water as well as with light particles. The results were in good agreement with analytical solutions for steady-state, and non-steady-state conditions. An approximate analytical solution was derived and found to be in agreement with the full solution. The threshold for resuspension was measured, and characterized in terms of a modified Shields parameter, which is appropriate to a zero-shear environment. All experiments showed that the distribution of SPM exhibited a layer near the bottom that is thought to be analogous to the benthic nepheloid layer (BNL) observed in larger lakes. The thickness of the nepheloid layer increases with the turbulence intensity.     

Incorporating multidimensional behavior into a risk management tool for a critically endangered and migratory species

Conservation of migratory species exhibiting wide-ranging and multidimensional behaviors is challenged by management efforts that only utilize horizontal movements or produce static spatial–temporal products. For the deep-diving, critically endangered eastern Pacific leatherback turtle, tools that predict where turtles have high risks of fisheries interactions are urgently needed to prevent further population decline. We incorporated horizontal–vertical movement model results with spatial–temporal kernel density estimates and threat data (gear-specific fishing) to develop monthly maps of spatial risk. Specifically, we applied multistate hidden Markov models to a biotelemetry data set (n = 28 leatherback tracks, 2004–2007). Tracks with dive information were used to characterize turtle behavior as belonging to 1 of 3 states (transiting, residential with mixed diving, and residential with deep diving). Recent fishing effort data from Global Fishing Watch were integrated with predicted behaviors and monthly space-use estimates to create maps of relative risk of turtle–fisheries interactions. Drifting (pelagic) longline fishing gear had the highest average monthly fishing effort in the study region, and risk indices showed this gear to also have the greatest potential for high-risk interactions with turtles in a residential, deep-diving behavioral state. Monthly relative risk surfaces for all gears and behaviors were added to South Pacific TurtleWatch (SPTW) ( https://www.upwell.org/sptw ), a dynamic management tool for this leatherback population. These modifications will refine SPTW's capability to provide important predictions of potential high-risk bycatch areas for turtles undertaking specific behaviors. Our results demonstrate how multidimensional movement data, spatial–temporal density estimates, and threat data can be used to create a unique conservation tool. These methods serve as a framework for incorporating behavior into similar tools for other aquatic, aerial, and terrestrial taxa with multidimensional movement behaviors.