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.     

Overview and recent developments in cell-based noninvasive prenatal testing

Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as a DNA source of fetal origin not mixed with maternal DNA, they have the potential of considerable benefit over circulating cell-free DNA-based noninvasive prenatal genetic testing (NIPT). Endocervical trophoblasts, which are less rare but more challenging to recover are also being investigated as an approach for cell-based NIPT. We review published studies from around the world describing both forms of cell-based NIPT and highlight the different approaches’ advantages and drawbacks. We also offer guidance for developing a sound cell-based NIPT protocol.     

Presence of Torque Teno Virus (TTV) in Tap Water in Public Schools from Southern Brazil

Torque teno virus (TTV) was surveyed in tap water collected in schools from three municipalities located in the south of Brazil. TTV genomes were found in 11.7 % (4/34) of the samples. TTV DNA was detected in 10.5 % (2/19) of the samples collected at the city of Caxias do Sul and in 25 % (2/8) of the samples from Pelotas. Those cities have a low rate of sewage treatment. All samples from Santa Cruz do Sul, which has nearly 92 % of its sewage treated, were negative. These results suggest that the amount of sewage treated may have an effect on the detection rates of TTV DNA in drinking water in a given urban area, showing a mild negative correlation (r = ?0.76), when comparing the percentage of sewage treatment to the detection of TTV genomes. The detection rate of TTV was also compared with Escherichia coli, showing a strong correlation (r = 0.97), indicating that TTV may be a suitable marker of fecal contamination.     

Chemical looping with oxygen uncoupling: an advanced biomass combustion technology to avoid CO2 emissions

Mitigation and Adaptation Strategies for Global Change - Bioenergy with carbon dioxide (CO2) capture and storage (BECCS) technologies represent an interesting option to reach negative carbon...     

Effects of exotic fish farms on bird communities in lake and marine ecosystems

Salmon farming is a widespread activity around the world, also known to promote diverse environmental effects on aquatic ecosystems. However, information regarding the impact of salmon farming on bird assemblages is notably scarce. We hypothesize that salmon farming, by providing food subsidies and physical structures to birds, will change their local community structure. To test this hypothesis, we conducted a seasonal monitoring of bird richness, abundance, and composition at paired salmon pen and control plots in two marine and two lake sites in southern Chile, from fall 2002 to summer 2004. Overall, salmon farming had no significant effects on species richness, but bird abundance was significantly and noticeably higher in salmon pens than in controls. Such aggregation was mainly accounted for by the trophic guilds of omnivores, diving piscivores, carrion eaters, and perching piscivores, but not by invertebrate feeders, herbivores, and surface feeders. Species composition was also significantly and persistently different between salmon pens and controls within each lake or marine locality. The patterns described above remained consistent across environment types and seasons indicating that salmon farming is changing the community structure of birds in both lake and marine habitats by promoting functional and aggregation responses, particularly by favoring species with broader niches. Such local patterns may thus anticipate potential threats from the ongoing expansion of the salmon industry to neighboring areas in Chile, resulting in regional changes of bird communities, toward a less diverse one and dominated by opportunistic, common, and generalist species such as gulls, vultures, and cormorants.     

A comprehensive review of climate adaptation in the United States: more than before, but less than needed

We reviewed existing and planned adaptation activities of federal, tribal, state, and local governments and the private sector in the United States (U.S.) to understand what types of adaptation activities are underway across different sectors and scales throughout the country. Primary sources of review included material officially submitted for consideration in the upcoming 2013 U.S. National Climate Assessment and supplemental peer-reviewed and grey literature. Although substantial adaptation planning is occurring in various sectors, levels of government, and the private sector, few measures have been implemented and even fewer have been evaluated. Most adaptation actions to date appear to be incremental changes, not the transformational changes that may be needed in certain cases to adapt to significant changes in climate. While there appear to be no one-size-fits-all adaptations, there are similarities in approaches across scales and sectors, including mainstreaming climate considerations into existing policies and plans, and pursuing no- and low-regrets strategies. Despite the positive momentum in recent years, barriers to implementation still impede action in all sectors and across scales. The most significant barriers include lack of funding, policy and institutional constraints, and difficulty in anticipating climate change given the current state of information on change. However, the practice of adaptation can advance through learning by doing, stakeholder engagements (including “listening sessions”), and sharing of best practices. Efforts to advance adaptation across the U.S. and globally will necessitate the reduction or elimination of barriers, the enhancement of information and best practice sharing mechanisms, and the creation of comprehensive adaptation evaluation metrics.     

Evaluation of the gene expression changes in Nile tilapia (<Emphasis Type="Italic">Oreochromis niloticus</Emphasis>) as affected by the bio-removal of toxic textile dyes from aqueous solution in small-scale bioreactor

A laboratory-scale bioremediation unit was designed, built and tested for the bio-removal of several Direct textile dyes. Four experiments were carried out to assess the efficiency of the bioremediation unit using Aspergillus niger fungal strain. Three commonly used Direct dyes and textile dyes mixture (simulated effluent: Direct brown, Direct violet, Direct green) were tested in this study. The strain of A. niger was efficient in the removal of the three Direct dyes. The decolorization percentages of the dyes after 24 h of incubation were 56.2, 51.7, and 95.4% for Direct brown, Direct green, Direct violet dyes, respectively. The percentages increased up to 79.4, 86.4, and 96.7% after 72 h of incubation for the same dyes, respectively. The results also showed that the fungal strain reduced the chemical oxygen demand values of simulated dye effluents from 165 to 564 mg/l with most of the dyes. The assessment of bioremediation products on biomodel was conducted using a fresh water fish. The liver and brain of Nile tilapia were tested to evaluate the expression of genes coding for several proteins related to stress such as metallothioneins (MTs), cytochrome P450 (CYP450), and heat shock proteins (HSPs). To assess the alterations in the gene expression, ten animals from each group were killed after 4 weeks of treatment. The results revealed significant increases in the brain and hepatic mRNA levels of all stress protein genes MT, CYP450, Hsp70a, b, and Hsp47 in the fish groups treated with industrial Direct violet, green, and brown dye water. Exposure of tilapia to bioremediation products after treatment with A. niger fungi reduced the over-expression of the stress protein genes in the brain and liver tissues.     

Annual nutrients budget for the grazed and ungrazed sites of an alpine expanse in North-West Himalaya,India

This work was undertaken to analyze nutrient contents of vegetation in an alpine meadow—Tungnath, North-West Himalaya, India. The study pertains to the uptake, transfer and release of four main macronutrients (organic carbon, total nitrogen, total potassium and total phosphorus) in grazed (exposed to extensive grazing by cattles) and ungrazed (grazing completely prohibited) communities. Mineral concentration was recorded higher for the ungrazed sites compared to the grazed sites, and maximum standing state of nutrients was found in roots. Belowground compartment (roots) contributed maximum share of mineral elements to soil. Litter nutrients release was low because of low microbial activity and continuous removal of phytomass. Observations reveal that there was very little amount of nutrient release from phytomass and vegetation in alpine are very poor source of mineral recycling. Low transfer rate of minerals from one compartment to other is adequate for greater amount of these minerals that are translocated back into the storage organs. A small proportion get removed through rain splash or through the removal of hay during grazing as relatively high release rates in ungrazed sites when compared to grazed sites was observed. This translocation can be considered as an important adaptation in alpine plants for survival during adverse environmental conditions, against all types of biotic pressures and also for regeneration in the forthcoming growing season.     

Denitrification in anaerobic lagoons used to treat swine wastewater

Anaerobic lagoons are commonly used for the treatment of swine wastewater. Although these lagoons were once thought to be relatively simple, their physical, chemical, and biological processes are very complex. This study of anaerobic lagoons had two objectives: (i) to quantify denitrification enzyme activity (DEA) and (ii) to evaluate the influence of lagoon characteristics on the DEA. The DEA was measured by the acetylene inhibition method. Wastewater samples and physical and chemical measurements were taken from the wastewater column of nine anaerobic swine lagoons from May 2006 to May 2009. These lagoons were typical for anaerobic swine lagoons in the Carolinas relative to their size, operation, and chemical and physical characteristics. Their mean value for DEA was 87 mg N2O-N m(-3) d(-1). In a lagoon with 2-m depth, this rate of DEA would be compatible with 1.74 kg N ha(-1) d(-1) When nonlimiting nitrate was added, the highest DEA was compatible with 4.38 kg N ha(-1) d(-1) loss. Using stepwise regression for this treatment, the lagoon characteristics (i.e., soluble organic carbon, total nitrogen, temperature, and NO3-N) provided a final step model R2 of 0.69. Nitrous oxide from incomplete denitrification was not a significant part of the system nitrogen balance. Although alternate pathways of denitrification may exist within or beneath the wastewater column, this paper documents the lack of sufficient denitrification enzyme activity within the wastewater column of these anaerobic lagoons to support large N2 gas losses via classical nitrification and denitrification.