Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Effect of surfactants on Fenton's reagent-mediated degradation of Kraft black liquor

One of the limitations of the biodegradation of hydrophobic chemical compounds, like lignins, is their low solubility in the aqueous solution where this process takes place. To resolve this problem, surfactants have been used to improve the solubility of these hydrophobic compounds. In this investigation, we studied the effect of surfactants (anionic, cationic, and non-ionic) on the treatment of Kraft black liquor with Fenton's reagent. In the Fenton reaction, H2O2 (two different concentrations, 10 mM and 20 mM), FeCl2 (1 mM) and surfactant solution (10%) were used. Black liquor degradation was determined by UV/Visible spectrophotometry and by measuring phenolic groups. In the presence of Fenton's reagent, the optimum conditions for the oxidative degradation of black liquor were 10 mM H2O2, 1 microL of 10% solution of anionic surfactant (SDS). The importance of the use of surfactants for preparing black liquor for subsequent Fenton's reagent-mediated degradation was discussed.     

Protecting the photosynthetic performance of snap bean under free air ozone exposure

Tropospheric ozone(O_3) is a major air pollutant and causes serious injury to vegetation. To protect sensitive plants from O_3 damage, several agrochemicals have been assessed,including cytokinin(e.g., kinetin, KIN) and ethylenediurea(EDU) with cytokinin-like activity.In higher plant, leaves are primarily injured by O_3 and protective agrochemicals are often applied by leaf spraying. To our knowledge, the mitigating abilities of EDU and KIN have not been compared directly in a realistic setup. In the present research, impacts of elevated O3(2 × ambient O_3, 24 hr per day, for 8 days) on an O_3 sensitive line(S156) of snap bean(Phaseolus vulgaris), which is often used for biomonitoring O_3 pollution, were studied in a free air controlled exposure system. The day before starting the O_3 exposure, plants were sprayed with a solution of EDU(300 ppm), KIN(1 mmol/L) or distilled water, to compare their protective abilities. The results demonstrated that 2 × ambient O_3 inhibited net photosynthetic rate and stomatal conductance, increased the minimal fluorescence yield of the dark-adapted state, decreased the maximal quantum yield of PSII photochemistry, and led to visible injury. KIN and EDU alleviated the reduction of the photosynthetic performance, and visible injury under O_3 fumigation. The plants sprayed with EDU showed greater ability to mitigate the O_3 damage than those sprayed with KIN. Chlorophyll fluorescence imaging may have detected more precisely the differences in O_3 response across the leaf than the conventional fluorometer.     

Sustainable development in the BRICS countries: an efficiency analysis by data envelopment

There is much concern about the social and environmental impacts caused by the economic growth of nations. Thus, to evaluate the socio-economic performance of nations, economists have increasingly addressed matters related to social welfare and the environment. It is within the scope of this context that this work discusses the performance of countries in the BRICS group regarding sustainable development. The objective of this study regards evaluating the efficiency of these countries in transforming productive resources and technological innovation into sustainable development. The proposed objective was achieved by using econometric tools as well as the data envelopment analysis method to then create economic, environmental, and social efficiency rankings for the BRICS countries, which enabled to carry out comparative analyses on the sustainable development of those countries. The results of such assessments can be of interest for more specific scientific explorations.