Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd.     

Methodological Basis of Ecological Safety Standards for the Technogenic Impact of Mineral Resource Exploitation

A new methodological approach to the development of biological and technological safety standards for the impact of underground mining on the natural biota is proposed.     

Exposure to radiation from global system for mobile communications at 1,800 MHz significantly changes gene expression in rat hippocampus and cortex

We have earlier shown that radio frequency electromagnetic fields can cause significant leakage of albumin through the blood–brain barrier of exposed rats as compared to non-exposed rats, and also significant neuronal damage in rat brains several weeks after a 2 h exposure to a mobile phone, at 915 MHz with a global system for mobile communications (GSM) frequency modulation, at whole-body specific absorption rate values (SAR) of 200, 20, 2, and 0.2 mW/kg. We have now studied whether 6 h of exposure to the radiation from a GSM mobile test phone at 1,800 MHz (at a whole-body SAR-value of 13 mW/kg, corresponding to a brain SAR-value of 30 mW/kg) has an effect upon the gene expression pattern in rat brain cortex and hippocampus—areas where we have observed albumin leakage from capillaries into neurons and neuronal damage. Microarray analysis of 31,099 rat genes, including splicing variants, was performed in cortex and hippocampus of 8 Fischer 344 rats, 4 animals exposed to global system for mobile communications electromagnetic fields for 6 h in an anechoic chamber, one rat at a time, and 4 controls kept as long in the same anechoic chamber without exposure, also in this case one rat at a time. Gene ontology analysis (using the gene ontology categories biological processes, molecular functions, and cell components) of the differentially expressed genes of the exposed animals versus the control group revealed the following highly significant altered gene categories in both cortex and hippocampus: extracellular region, signal transducer activity, intrinsic to membrane, and integral to membrane. The fact that most of these categories are connected with membrane functions may have a relation to our earlier observation of albumin transport through brain capillaries.     

Biological productivity of bogs in the middle taiga subzone of Western Siberia

New experimental data on biological productivity of plant communities in oligotrophic and mesotrophic bogs of the middle taiga subzone over the past five years are presented. The relationship between net primary production and the stock of live phytomass is estimated. The stock of necromass in oligotrophic bog ecosystems increases from west to east, while the stock of live phytomass and net primary production decrease.     

Proposal for the integration of decentralised composting of the organic fraction of municipal solid waste into the waste management system of Cuba

Municipal solid waste (MSW) generation and management in Cuba was studied with a view to integrating composting of the organic fractions of MSW into the system. Composting is already included as part of the environmental strategy of the country as an appropriate waste management solution. However, no programme for area-wide implementation yet exists. The evaluation of studies carried out by some Cuban and international organisations showed that organic matter comprises approximately 60-70% of the MSW, with households being the main source. If all organic waste fractions were considered, the theoretical amount of organic waste produced would be approximately 1 Mio. Mg/a, leading to the production of approximately 0.5 Mio. Mg/a of compost. Composting could, therefore, be a suitable solution for treating the organic waste fractions of the MSW. Composting would best be carried out in decentralised systems, since transportation is a problem in Cuba. Furthermore, low technology and low budget composting options should be considered due to the problematic local economic situation. The location for such decentralised composting units would optimally be located at urban agricultural farms, which can be found all over Cuba. These farms are a unique model for sustainable farming in the world, and have a high demand for organic fertiliser. In this paper, options for the collection and impurity-separation in urban areas are discussed, and a stepwise introduction of source-separation, starting with hotel and restaurant waste, is suggested. For rural areas, the implementation of home composting is recommended.     

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.     

Inputs of chemicals from recreational activities into the Norwegian coastal zone

Wastewater treatment works effluent is often considered to be one of the most important point sources of a wide range of anthropogenic contaminants to aquatic systems, however, this paper discusses other potential sources. With the aim of establishing the important sources of UV filters, insect repellent and biocides to the aquatic environment, samples were collected from sites with direct (bathing areas and marinas) and indirect (sites receiving wastewater effluent) human influences. Sunscreens containing UV filters are used in large volumes during the summer months and often applied shortly before a person enters the water for swimming activities. The results presented here demonstrate that washing directly from the skin is an important point source of 4 UV filters to the Oslofjord. The insect repellent, diethyl toluamide, was also measured and it was concluded that washing from the skin was not such an important point source into the fjord. Concentrations of the biocide Irgarol 1051 were also measured and were elevated in the small boat marina and surrounding enclosed area. This work demonstrates that man recreational water-based activities are a diffuse source of some contaminants into coastal and fjord environments and this study provides an initial assessment of the levels being released.