Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

The organization of work in Polybia occidentalis: costs and benefits of specialization in a social wasp

Summary Nest construction, a complex social activity requiring the coordination of 3 tasks (Fig.2), was compared in large (<350 adults) and small (<50 adults) colonies of Polybia occidentalis. The 3 tasks—water foraging, pulp foraging, and building—are performed by 3 separate groups of workers (Fig.4). Of the 8 acts comprising the 3 tasks, 5 regularly involve the transfer of water or pulp from one worker to another on the nest.Small colonies required nearly twice as long (35.4 worker-min) as large colonies (20.1 workermin) to complete a unit amount of construction work. Behavioral acts involving material transfer among workers were responsible for most of the increase in small colonies. In other words, the waiting times experienced by material donors and recipients were greater in small colonies. In small colonies workers switched among the three tasks more frequently than in large colonies (Fig. 4). This was the result of more frequent switching by generalists (workers that performed 2 or 3 of the tasks), rather than by a decrease in the proportion of specialists (workers performing only 1 task type) (Fig. 3).The series-parallel system by which Polybia occidentalis organizes nest construction has a major advantage over the series operation of solitary wasps. Pulp foragers collect and carry loads that are 6.1 times as large as builders can work with at the nest, and water foragers bring in loads that appear to be limited only by crop capacity and that provide all the moisture necessary for the complete processing of 0.74 of a foraged pulp load. As a result P. occidentalis can collect and process a given amount of nest material using 2.6 times fewer foraging trips than would be required by the series system. This in turn means that P. occidentalis not only achieves an energy saving that probably more than offsets the increased costs of material handling at the nest, but it reduces the exposure of its foragers to predators in the field.     

Kriging for estimating spatial pattern of contaminants: Potential and problems

This paper discusses and illustrates the use of kriging techniques for estimating the spatial pattern of contaminants in environmental media, particularly soil. The assumptions underlying kriging are reviewed as are some advantages and disadvantages of the method. Lognormal kriging (kriging applied to logarithmic-transformed data) is illustrated using a set of radionuclide soil concentrations at a nuclear testing area on the Nevada Test Site. This example shows how lognormal kriging can be used to estimate average concentrations at points or for blocks of land, concentration contours over space, confidence bands about these contours, and radionuclide inventory in soil. The validity of kriging estimates depends on the accurate estimation and modeling of the spatial correlation structure of the phenomenon. Accuracy is especially important when lognormal kriging is used and estimates of means and their standard deviations are required in the original, untransformed scale. This paper illustrates the bias that can result when a changing correlation structure over space is ignored.Operated for the U.S. Department of Energy by Battelle Memorial InstituteWork supported by Nevada Applied Ecology Group, U.S. Department of Energy, Nevada Operations Office under Contract DE-AC06-76RLO 1830.     

The EU-project ERAPharm. Incentives for the further development of guidance documents?

- Triggered by the detection of a large variety of pharmaceuticals in surface waters, soils and groundwaters across the world (e.g. Halling- Sørensen et al. 1998, Daughton & Ternes 1999, Jones et al. 2001, Heberer 2002) and the widespread occurrence of endocrine active compounds and related effects in the environment (e.g. Purdom et al. 1994, Tyler et al. 1998, Vethaak et al. 2002), pharmaceuticals in the environment have become an issue for both the scientific and the public community. During the last few years, our understanding of the fate and effects of pharmaceuticals in the environment has progressed significantly. However, there are still a number of uncertainties concerning the effects of pharmaceuticals on the environment and the assessment of potential exposure (e.g. Hanisch et al. 2004, Salomon 2005). These uncertainties will be addressed by the EU-project ‘Environmental risk assessment of pharmaceuticals’ (ERAPharm). This project, a specific targeted research project, is carried out within the priority ‘Global change and ecosystems’ of the 6th framework programme of the European Union. ERAPharm has started on 1st October 2004; the project duration is three years.     

The role of percutaneous umbilical blood sampling in the management of immune thrombocytopenic purpura

On consultation, percutaneous umbilical blood sampling (PUBS) was offered to women with immune thrombocytopenic purpura (ITP) to determine the mode and site of delivery prior to labour. Between January 1989 and December 1993, 41 pregnant women underwent PUBS. All women had a history of ITP, a platelet count less than 90 K, (+) antiplatelet antibody, and/or thrombocytopenia diagnosed early in pregnancy. PUBS was performed at term except in one patient with preterm labour, who underwent PUBS at 31 weeks' gestation. Patients with fetal platelet counts greater than 50 K returned to their referring physician for delivery. Records were complete in 39 pregnancies. Fetal blood was successfully obtained in 37 of 39 cases (95 per cent). Fetal platelet counts correlated with neonatal platelet counts in 36 of 37 cases (97 per cent). The interval between PUBS and delivery ranged from 0 to 31 days. Six of 37 fetuses (16 per cent) had significant fetal thrombocytopenia (<50 K). These six patients underwent Caesarean section. Vaginal delivery was recommended in all others. There were two procedure-related complications. There were no cases of intraventricular haemorrhage in any of the neonates. In conclusion, there is a high incidence of fetal thrombocytopenia in women with ITP. PUBS reliably detects fetal thrombocytopenia and is therefore useful in the perinatal planning of the mode and site of delivery.     

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.