Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Prenatal diagnosis of campomelic dysplasia by ultrasonography

Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.     

Influences of perfluorooctanoic acid on the aggregation of multi-walled carbon nanotubes

The aggregation of multi-walled carbon nanotubes (MWCNTs) in the aqueous phase not only inhibits their extensive utilization in various aspects but also dominates their environmental fate and transport.The role of surfactants at low concentration in the aggregation of MWCNTs has been studied,however the effect of perfluorinated surfactants at low concentration is uncertain.To understand this interfacial phenomenon,the influences of perfluorooctanoic acid (PFOA),and sodium dodecyl sulfate (SDS) as a control,on MWCNT aggregation in the aqueous phase were examined by the UV absorbency method.Influences of pH and cationic species on the critical coagulation concentration (CCC) value were evaluated.The CCC values were dependent on the concentration of PFOA,however a pronounced effect of SDS concentration on the CCC values was not observed.The CCC values of the MWCNTs were 51.6 mmol/L in NaCl and 0.28 mmol/L in CaCl 2 solutions,which suggested pronounced differences in the effects of Na+ and Ca2+ ions on the aggregation of the MWCNTs.The presence of both PFOA and SDS significantly decreased the CCC values of the MWCNTs in NaCl solution.The aggregation of the MWCNTs took place under acidic conditions and was not notably altered under neutral and alkaline conditions due to the electrostatic repulsion of deprotonated functional groups on the surface of the MWCNTs.     

Löwenzahn Taraxacum officinale Web. als (städtischer) Bioindikator

Investigations of the dandelion, Taraxacum officinale Web. in Poland, Romania and Germany showed that the species concentrates various elements dependent on the intensity of the pollutants. In this study, we followed up the question of whether T. officinale enriches pollutants by the atmospheric deposition on the leaves or via the soil. Therefore, samples from at least 10 plants and a soil sample at 57 sample sites were collected from a grid of 500 m × 500 m. In addition to the analysis of the total soil sample, the (mobile) ion pool of the soil (DIN V 19739) was analysed. The elements Al, As, Ba, Ca, Cd, Ce, Co, Cr, Cu, Fe, Ga, K, Mg, Mn, Mo, Na, Ni, Rb, Sr, Ti, Tl, V, and Zn were determined through the use of spectrometry with inductive coupled plasma (ICP-MS and ICP-OES). The results are compared with the element concentrations of washed and unwashed leaf samples in T. officinale. We could only find two direct correlations (Ti and Zn) between the element content, of the entire soil samples, but 14 correlations (As, Ba, Cd, Cu, Ga, K, Mn, Mo, Na, Ni, Rb, Ti, Tl und Zn) between the ion pool of the soil and the washed samples. The grid point data interpolation by ArcInfo showed a similar distribution pattern for the unwashed leaf elements Al, Ce, Fe, Ti and V (r≥0.75). The elements Al, Ce, Fe, Ti, and V are washed out at the same ratio. Thus, although the concentration of these elements were significantly reduced by the washing procedure, the correlations were not influenced. The admissibility of the grid point data interpolation for a distribution map of the town area was investigated, as well. It is shown that the element content varies with the land use (meadow, field, rural areas), the sampling point and the local pollutants. However, none of the discussed elements, Al, Ce, Fe, Ti, and V, is significantly influenced by the land use. The data allows one to make the conclusion that the elements of Al, Ce, Fe, Ti and V are dependent on the dry and wet deposition on the leaves of T. officinale. These elements are taken up not only by the roots, but also by the surface of the leaves. This is evident because there is no correlation between one of these elements in the leaves and the ion pool of the soil.