Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

We successfully assessed a fetus at risk for lethal infantile hypophosphatasia using amniocyte DNA and allele-specific oligonucleotide (ASO) probes for two missense mutations in the tissue-non-specific alkaline phosphatase isoenzyme (TNSALP) gene. The nucleotide changes had been discovered in a sister who died at 8 months of age from this inborn error of metabolism. The mother was known to carry the 747 (cDNA) G→A transition, whereas her husband and 5-year-old daughter, who were also healthy, carried the 1309 A→T transversion. Amniocytes, obtained at 16 weeks' gestation, provided genomic DNA for polymerase chain reaction (PCR) amplification of the appropriate TNSALP gene exons. ASO hybridization revealed absence of the 747A mutation and presence of the 1309T base change in the fetus, indicating a carrier for hypophosphatasia. At 8 months of age, the offspring was in excellent health and without any radiological evidence of skeletal disease. His serum ALP activity and plasma pyridoxal 5′-phosphate level were decreased and increased, respectively, at levels consistent with the prenatal assessment. The ASO studies were confirmed postnatally using peripheral blood leukocyte DNA. This is the first application of direct mutational analysis to assess a fetus at risk for hypophosphatasia.     

Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence

Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter fades. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation.     

Patterns and levels of halogenated volatile compounds in Portuguese surface waters

The present study focused on monitoring the concentration of 14 halogenated volatile organic compounds in surface waters, including sea, estuarine, river water and industrial effluents in order to determine the most ubiquitous compounds and their concentration levels, which were used to establish their geographical and temporal distribution. EPA Method 502, based on purge and trap techniques, was used. In this method volatile organic pollutants are extracted (purged) from the water sample by bubbling inert gas through the aqueous sample. Purged sample components are trapped in a cartridge containing the polymeric sorbent Tenax and, thereafter, the cartridge is heated and backflushed with helium to desorb the trapped sample components directly into a gas chromatograph with electron capture detector (GC-ECD). The linearity range of the method varied from 0.1 to 4 microg L(-1) with a limit of detection at the low microg L(-1) level. The present study consisted of a monthly monitoring of 46 points throughout Portugal, during 14 months. Chloroform was found in 50% of the samples analyzed, its presence being correlated to both agricultural and industrial activities. Other compounds detected were tetrachloroethylene, trichloroethylene, carbon tetrachloride and 1,2,4 trichlorobenzene, which were present in 10-20% of the samples at concentrations up to 18 microg L(-1). 1,1,2,2-Tetrachloroethane and its degradation product 1,1,2-trichloroethane were found in 5% of the samples, the levels of the latter being higher than those of the parent compound in most samples. Sporadic high concentrations of some volatile halogenated organic compounds were attributed to local uses as solvents.     

Sustainability Indicators as a Communicative Tool: Building Bridges in Pennsylvania

Sustainability is a laudable goal, but difficult to define and to implement because of the complexity of interlinked human and natural systems, and the uncertainty inherent in such complex systems. Resilience shows promise as a relevant and measurable attribute of sustainability, which itself defies measurement. Identification and assessment of conditions that are desirable, as well as those that are undesirable, are necessary in order to determine both the degree of progress toward sustainability and the removal of impediments to such progress. Communications incident to the identification and selection of indicators of resilience and sustainability are of potentially greater value than the indicators themselves and so should be given explicit consideration in the design of the indicators development process. Moving towards sustainability requires an iterative, continuing (open-ended), collaborative process. Academic institutions can assist in this process through activities that connect across political, social and discipline boundaries. Boundary organizations are those that have achieved a level of trust among the relevant constituents to management of sustainability and can help convert academic findings that are objectively neutral into options and alternatives that may be politically and economically feasible. The Sustainable Pennsylvania Program is developing demonstration projects with both state and local governmental agencies with the objective of building both capacity and will for moving towards sustainability.     

Factors influencing 2,4-D sorption and mineralization in soil

This study quantified 2,4-D [(2,4-dichlorophenoxy)acetic acid] sorption and mineralization rates in five soils as influenced by soil characteristics and nutrient contents. Results indicated that 2.4-D was weakly sorbed by soil, with Freundlich distribution coefficients ranging from 0.81 to 2.89 microg(1 - 1/n) g(-1) mL(1/n). First-order mineralization rate constants varied from 0.03 to 0.26, corresponding to calculated mineralization half-lives of 3 and 22 days, respectively. Herbicide sorption generally increased with increasing soil organic carbon content, but the extent of 2,4-D sorption per unit organic carbon varied among the soils due to differences in soil pH, clay content and/or organic matter quality. Herbicide mineralization rates were greater in soils that sorbed more 2,4-D per unit organic carbon, and that had greater soil nitrogen contents. We conclude that the effect of sorption on herbicide degradation cannot be generalized without a better understanding of the effects of soil characteristics and nutrient content on herbicide behavior in soil.     

Vocal signals,isolation and hybridization in the vinaceous dove (<Emphasis Type="Italic">Streptopelia vinacea</Emphasis>) and the ring-necked dove (<Emphasis Type="Italic">S. capicola</Emphasis>)

Two closely related dove species, Streptopelia vinacea and S. capicola, show clear interspecific divergence in one acoustic signal (perch-coo), but much less so in another (bow-coo). Both signals play a role in territorial defense and mate attraction and may thus convey information used for species recognition. In Uganda, there is a small zone of overlap where the two species most probably hybridize. With playback experiments in allopatric populations of each species we tested the potential of the two signal types for species isolation. Allopatric populations showed a stronger response to conspecific than to heterospecific perch-coos, but an equal response to bow-coos of either species. However, S. vinacea responded relatively stronger to S. capicola perch-coos than vice versa. The hybrid population showed an equal response to bow-coos of either species, but a marginally stronger response to perch-coos of S. capicola compared to perch-coos of S. vinacea. Hybrids have a variable and intermediate vocal structure compared to both parental species, which allowed for testing of behavioral coupling between production and perception of these signals. Hybrids showed no relationship between their coo structure and that of the species to which they respond most strongly, indicating a lack of behavioral coupling. Although perch-coos may differ sufficiently to allow species isolation, the similarity in bow-coos may allow interspecific interactions. We suggest that the similarity in bow-coos and the higher salience of S. capicola perch-coos may have allowed S. capicola to extend its range into that of S. vinacea, resulting in hybridization. Electronic Publication     

Deferoxamine pretreatment inhibits metal neurotoxicity in Caenorhabditis elegans

Neurodegenerative diseases are increasingly common in humans. Alzheimer's disease (AD) is a neurodegenerative disease characterized by the presence of extracellular plaques containing β‐amyloid peptides and neurofibrillary tangles in the brains. Researchers have focused on the elucidation of a correlation between high concentrations of aluminum or iron (in the organism with observed neuropathology). The objective of this study was to evaluate the effects of aluminum and iron on the behavioral parameters (pharyngeal pumping and defecation cycle) of the nematode Caenorhabditis elegans pretreated with deferoxamine (DFX). Acetylcholinesterase (AChE) activity was evaluated as well. DFX is a chelant that is widely used for the treatment of metal toxicity, and it has a high affinity for aluminum and iron. The worms were pretreated with DFX, and then exposed to aluminum and iron. In the absence of DFX, aluminum exposure decreased pharyngeal pumping compared with that in the control group. The defecation cycle of the control was significantly different from that of the worms exposed to aluminum. In contrast, an increased defecation cycle was observed in worms exposed to iron without DFX pretreatment. AChE activity increased in aluminum‐exposed groups that received DFX pretreatment compared with those that did not receive pretreatment. These results suggest that pretreatment with DFX is effective in reducing metal toxicity, particularly with reference to AChE activity, which did not decrease in groups that did not receive DFX pretreatment.     

Analysis of heavy metals and aromatics compounds in soil layers of a sanitary landfill

Solid waste presents the potential for contamination of the soil when it is improperly managed. One of the great challenges of today's society is to promote the proper disposal of municipal solid waste in order to guarantee the safety of public health and to avoid risks to the environment. In this context, the objective of this study is to analyze the concentration profiles of heavy metals and aromatic hydrocarbons of risk that human health in landfill soil. Such works provides an important tool to evaluate the possible presence of contaminants from inappropriate waste disposal, as well as to assist in the management of waste and to prevent environmental contamination. In order to analyze cadmium (Cd), lead (Pb), nickel (Ni), arsenic (As), and mercury (Hg), which are toxic elements, and aromatic hydrocarbons, including benzene, toluene, ethylbenzene, o‐xylene, m‐xylene, and p‐xylene, soil samples were collected at different sites and depths. Neither Cd nor As was detected in any of the samples that were analyzed. Pb levels ranged from 5.34 milligrams per kilograms (mg/kg) to 7.40 mg/kg, Ni levels ranged from 2.17 mg/kg to 3.00 mg/kg, and Hg levels ranged from 75.4 micrograms per kilograms (μg/kg) to 88.3 μg/kg. The aromatic hydrocarbon compounds of benzene, toluene, ethylbenzene, and o‐xylene were below 5.5 μg/kg, and m‐, p‐xylene was below 11 μg/kg. The analysis of heavy metals and aromatic hydrocarbons present in the landfill soil showed concentrations below the soil quality guideline values of the Brazilian National Environment Council (CONAMA) Resolution 420, which has criteria for the presence of chemical substances in soil for Brazil. Therefore, the low levels of chemicals may be related to the operational time of the landfill or to the population profile of the municipality, which is predominantly composed of persons involved in family‐based agriculture.     

Practices of energy use management and sustainable performance in Brazilian mineral industries

Energy is an essential asset for the existence of industrial activities, however, the absence of energy use management may lead to numerous environmental, economic, and social impacts. Thus, industries, which are major consumers of energy, play an essential role in seeking to preserve the energy system. This study aimed at analyzing the practices of energy use management and their relation to sustainable performance in the industries within the Brazilian mineral sector. The practices of energy use management were measured using the model proposed by Liu et al. (2012, Journal of Cleaner Production, 26, 79–89). After that, evidence of sustainable performance was identified based on performance indicators developed by the Global Reporting Initiative (2006, 2010, 2014). The study is characterized as quantitative, and it was conducted through a survey of industries linked to the Brazilian Mining Association. Through our results, we verified that the practices related to energy use management existent in the companies that we studied are subjected to periodic verification of the impacts caused by company activities on the environment, and that attention to energy use provides an incentive to daily practices of energy saving. On the other hand, the practices of energy use management are still little disseminated among these companies, as is certification to the International Organisation for Standardization's (ISO) Energy Management Systems framework, ISO 50001. In general, through the analyses that we performed, we can verify the existence of positive associations between the factors related to the practices of energy use management and to corporate sustainable performance.