Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases

Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1% to 1.8% of foetuses. It has been described as a normal variant and has often been associated with severe diseases, notably Down syndrome. The aim of the present study was to determine the risk of trisomy 21 in a prospective study of 680 fetuses with hyperechogenic foetal bowel. Karyotyping was performed on amniotic cells in 632 cases, and outcome was known in 655 cases. A 2.5% risk of Down syndrome and a 1% risk of other severe chromosomal anomalies were observed. Hyperechogenicity was isolated in 11/17 Down syndrome cases, and associated with other ultrasound anomalies in all seven cases of severe chromosomal anomalies. In conclusion, fetal bowel hyperechogenicity indicates a risk of chromosomal anomalies ten-fold higher than that expected on the basis of maternal age, therefore justifying invasive procedures. Copyright © 2002 John Wiley & Sons, Ltd.     

Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as “maspardin.” Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein–protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog (SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous “nonmammalian” species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.     

Fetal blood sampling via the umbilical cord using a needle guided by ultrasound report of 66 cases

Pure fetal blood has been aspirated in utero from the umbilical vein near the placental insertion of the cord using a twenty gauge needle under ultrasound guidance. Sixty-six samples were taken on 63 pregnancies between 17 and 32 weeks of gestation. One to two millilitres of blood can be obtained easily without amniotic fluid dilution or contamination by maternal blood, as confirmed by the measurements of the mean corpuscular volume, the histogram distribution of the red blood cells and the hematocrit. In all cases the Kleihauer test and isoelectrofocusing of the hemoglobins were performed. Coagulation factors were also studied in 60 cases. In 17 cases a medical abortion was voluntarily induced after the procedure, and the follow-up was normal during the observation period after sampling. In the other cases, pregnancies have continued normally and twelve healthy babies have already been born.     

The fitting of general force-of-infection models to wildlife disease prevalence data

Researchers and wildlife managers increasingly find themselves in situations where they must deal with infectious wildlife diseases such as chronic wasting disease, brucellosis, tuberculosis, and West Nile virus. Managers are often charged with designing and implementing control strategies, and researchers often seek to determine factors that influence and control the disease process. All of these activities require the ability to measure some indication of a disease's foothold in a population and evaluate factors affecting that foothold. The most common type of data available to managers and researchers is apparent prevalence data. Apparent disease prevalence, the proportion of animals in a sample that are positive for the disease, might seem like a natural measure of disease's foothold, but several properties, in particular, its dependency on age structure and the biasing effects of disease-associated mortality, make it less than ideal. In quantitative epidemiology, the "force of infection," or infection hazard, is generally the preferred parameter for measuring a disease's foothold, and it can be viewed as the most appropriate way to "adjust" apparent prevalence for age structure. The typical ecology curriculum includes little exposure to quantitative epidemiological concepts such as cumulative incidence, apparent prevalence, and the force of infection. The goal of this paper is to present these basic epidemiological concepts and resulting models in an ecological context and to illustrate how they can be applied to understand and address basic epidemiological questions. We demonstrate a practical approach to solving the heretofore intractable problem of fitting general force-of-infection models to wildlife prevalence data using a generalized regression approach. We apply the procedures to Mycobacterium bovis (bovine tuberculosis) prevalence in bison (Bison bison) in Wood Buffalo National Park, Canada, and demonstrate strong age dependency in the force of infection as well as an increased mortality hazard in positive animals.     

Effects of medium-pressure UV lamps radiation on water quality in a chlorinated indoor swimming pool

The aim of our study was to determine the impact of medium-pressure UV lamps radiation on water quality in a chlorinated indoor swimming pool. An indoor swimming pool was equipped with two medium-pressure UV lamps. We collected eight samples of water daily over a four-weeks period and measured total and free chlorine, pH, water temperature, bacteriological parameters, total organic carbon and trihalomethanes. During the first week, which served as control, medium-pressure UV lamps were turned off. During the next three weeks, medium-pressure UV lamps were kept on 24 h per day. The third week, we reduced the level of the injected chlorine into water, and the last week we also reduced the water renewal volume by 27%. Our results showed that bacteriological parameters remained within allowable french limits. When medium-pressure UV lamps were kept on, total, free and active chlorine levels were significantly increased (P<0.001), whereas combined chlorine level were significantly decreased (P<0.001 and P<0.05, respectively). The levels of chloroform and bromodichloromethane were significantly increased when medium-pressure UV lamps were kept on (P<0.001), whereas chlorodibromomethane and bromoform levels significantly decreased (P<0.05 and P<0.001, respectively). The additional formation of chloroform and bromodichloromethane may be explained by the increase in active chlorine and by radicalizing mechanisms initiated by UV radiation.