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.     

Balancing the edge effects budget: bay scallop settlement and loss along a seagrass edge

Edge effects are a dominant subject in landscape ecology literature, yet they are highly variable and poorly understood. Often, the literature suggests simple models for edge effects-positive (enhancement at the edge), negative (enhancement at the interior), or no effect (neutral)--on a variety of metrics, including abundance, diversity, and mortality. In the marine realm, much of this work has focused on fragmented seagrass habitats due to their importance for a variety of commercially important species. In this study, the settlement, recruitment, and survival of bay scallops was investigated across a variety of seagrass patch treatments. By simultaneously collecting settlers (those viable larvae available to settle and metamorphose) and recruits (those settlers that survive some period of time, in this case, 6 weeks) on the same collectors, we were able to demonstrate a "balance" between positive and negative edge effects, resulting in a net neutral effect. Scallop settlement was significantly enhanced along seagrass edges, regardless of patch type while survival was elevated within patch interiors. However, recruitment (the net result of settlement and post-settlement loss) did not vary significantly from edge to center, representing a neutral effect. Further, results suggest that post-settlement loss, most likely due to predation, appears to be the dominant mechanism structuring scallop abundance, not patterns in settlement. These data illustrate the complexity of edge effects, and suggest that the metric used to investigate the effect (be it abundance, survival, or other metrics) can often influence the magnitude and direction of the perceived effect. Traditionally, high predation along a habitat edge would have indicated an "ecological trap" for the species in question; however, this study demonstrates that, at the population level, an ecological trap may not exist.     

Four challenges to an effective national nature assessment

Comprehensive biodiversity assessments play an essential role in strengthening global and national conservation strategies. The recently announced first U.S. National Nature Assessment (NNA) provides an unparalleled opportunity to comprehensively review status and trends of biodiversity at all levels. This broad context can help in the coordination of actions to conserve individual species and ecosystems. The scientific assessments that informed the Kunming–Montreal Global Biodiversity Framework adopted at the 2022 Convention on Biological Diversity (CBD) conference of parties provide models for synthesizing information on trends at multiple levels of biodiversity, including decline in abundance and distribution of species, loss of populations and genetic diversity, and degradation and loss of ecosystems and their services. The assessments then relate these trends to data on drivers of biodiversity loss and pathways to their mitigation. The U.S. NNA can augment such global analyses and avoid the pitfalls encountered by previous U.S. efforts by ensuring policy-relevant design, data accessibility, and inclusivity in process and product and by incorporating spatial data relevant to national and subnational audiences. Although the United States is not formally a CBD party, an effective NNA should take full advantage of the global context by including indicators adopted at the 2022 meeting and incorporating an independent review mechanism that supports periodic stocktaking and ratcheting up of ambition in response to identified shortfalls in stemming biodiversity loss. The challenges to design of an effective U.S. assessment are relevant globally as nations develop assessments and reporting to support the new global biodiversity framework's targets. By considering and incorporating the diverse ways in which society values and benefits from nature, such assessments can help bridge the gap between research and conservation practice and communicate the extent of the biodiversity crisis to the public, fostering broad-based support for transformative change in humanity's relationship to the natural world.     

Open burning of household waste: Effect of experimental condition on combustion quality and emission of PCDD, PCDF and PCB

Open burning for waste disposal is, in many countries, the dominant source of polychlorinated dibenzodioxins, dibenzofurans and biphenyls (PCDD/PCDF/PCB) release to the environment. To generate emission factors for open burning, experimental pile burns of about 100 kg of household waste were conducted with emissions sampling. From these experiments and others conducted by the same authors it is found that less compaction of waste or active mixing during the fire - “stirring” - promotes better combustion (as evidenced by lower CO/CO₂ ratio) and reduces emissions of PCDD/PCDF/PCB; an intuitive but previously undemonstrated result. These experiments also support previous results suggesting PCDD/PCDF/PCB generation in open burning - while still highly variable - tends to be greater in the later (smoldering) phases of burning when the CO/CO₂ ratio increases.     

Water Challenges for Geologic Carbon Capture and Sequestration

Carbon capture and sequestration (CCS) has been proposed as a means to dramatically reduce greenhouse gas emissions with the continued use of fossil fuels. For geologic sequestration, the carbon dioxide is captured from large point sources (e.g., power plants or other industrial sources), transported to the injection site and injected into deep geological formations for storage. This will produce new water challenges, such as the amount of water used in energy resource development and utilization and the “capture penalty” for water use. At depth, brine displacement within formations, storage reservoir pressure increases resulting from injection, and leakage are potential concerns. Potential impacts range from increasing water demand for capture to contamination of groundwater through leakage or brine displacement. Understanding these potential impacts and the conditions under which they arise informs the design and implementation of appropriate monitoring and controls, important both for assurance of environmental safety and for accounting purposes. Potential benefits also exist, such as co-production and treatment of water to both offset reservoir pressure increase and to provide local water for beneficial use.     

Pilot-Scale Evaluation of an Incinerability Ranking System for Hazardous Organic Compounds

The U.S. Environmental Protection Agency’s (EPA) hazardous waste incinerator performance standards specify a minimum destruction and removal efficiency (DRE) for principal organic hazardous constituents (POHCs) designated in the incinerator waste feed. In the past, selection of appropriate POHCs for incinerator trial burns has been based largely on their heats of combustion. Attempting to improve upon this approach, the University of Dayton Research Institute (UDRI), under contract to the EPA Risk Reduction Engineering Laboratory, has developed a thermal stability-based ranking of compound "incinerability". The subject study was conducted to evaluate the laboratory-developed ranking system in a pilot-scale incinerator.

Mixtures of POHCs, spanning the ranking scale from most- to least-difficult to destroy (Class 1 to Class 7, respectively), were prepared and combined with a clay-based sorbent matrix. These mixtures were then fed into the rotary kiln incineration system at the U.S. EPA Incineration Research Facility (IRF). In a series of five tests, the following conditions were evaluated: baseline/ typical operation; thermal failure (quenching); mixing failure (overcharging); matrix failure (low feed H/CI ratio); and a worst-case combination of the three failure modes.

Under baseline conditions, mixing failure, and matrix failure, kiln-exit DREs for each compound were comparable from test to test. Operating conditions in these 3 modes appeared to be sufficient to effect considerable destruction (greater than 99.99 percent DRE) of all compounds. As a result, separation of the highest-ranked POHCs from the lowest-ranked POHCs according to observed DRE was not possible; a correlation between POHC ranking and DRE could not be confirmed.

A correlation between predicted and observed incinerability was more evident for the thermal failure and worst-case conditions. Kiln-exit DREs for the four POHCs predicted to be most stable (those in Classes 1 and 2) ranged from 99% to 99.99% under these conditions, and were generally lower than DREs for the POHCs predicted to be more easily destroyed. Statistically significant correlations above the 99 percent and 93 percent confidence intervals were identified for the thermal-failure and worst-case tests, respectively.     

Emissions of unintentional persistent organic pollutants from open burning of municipal solid waste from developing countries

Open burning of waste is the most significant source of polychlorinated dibenzo-para-dioxins and dibenzofurans (PCDD/PCDF) in many national inventories prepared pursuant to the Stockholm Convention on Persistent Organic Pollutants. This is particularly true for developing countries. Emission factors for POPs such as PCDD/PCDF, dioxin-like polychlorinated biphenyls (dl-PCB) and penta- and hexachlorobenzenes (PeCBz/HCB) from open burning of municipal solid waste in China and Mexico are reported herein. Six different waste sources were studied varying from urban-industrial to semi-urban to rural. For PCDD/PCDF, the emission factors to air ranged from 3.0 to 650 ng TEQ kg⁻¹ waste and for dl-PCB from 0.092 to 54 ng TEQ kg⁻¹ waste. Emission factors for PeCBz (17-1200 ng kg⁻¹ waste) and HCB (24-1300 ng kg⁻¹ waste) spanned a wide but similar range. Within the datasets there is no indication of significant waste composition effect on emission factor with the exception of significantly higher Mexico rural samples.     

Spatial analysis of a large magnitude erosion event following a Sierran wildfire

High intensity wildfire due to long-term fire suppression and heavy fuels buildup can render watersheds highly susceptible to wind and water erosion. The 2002 "Gondola" wildfire, located just southeast of Lake Tahoe, NV-CA, was followed 2 wk later by a severe hail and rainfall event that deposited 7.6 to 15.2 mm of precipitation over a 3 to 5 h time period. This resulted in a substantive upland ash and sediment flow with subsequent down-gradient riparian zone deposition. Point measurements and ESRI ArcView were applied to spatially assess source area contributions and the extent of ash and sediment flow deposition in the riparian zone. A deposition mass of 380 Mg of ash and sediment over 0.82 ha and pre-wildfire surface bulk density measurements were used in conjunction with two source area assessments to generate an estimation of 10.1 mm as the average depth of surface material eroded from the upland source area. Compared to previous measurements of erosion during rainfall simulation studies, the erosion of 1800 to 6700 g m(-2) mm(-1) determined from this study was as much as four orders of magnitude larger. Wildfire, followed by the single event documented in this investigation, enhanced soil water repellency and contributed 17 to 67% of the reported 15 to 60 mm ky(-1) of non-glacial, baseline erosion rates occurring in mountainous, granitic terrain sites in the Sierra Nevada. High fuel loads now common to the Lake Tahoe Basin increase the risk that similar erosion events will become more commonplace, potentially contributing to the accelerated degradation of Lake Tahoe's water clarity.     

Inorganic nitrogen and phosphorus in Sierran forest O horizon leachate

High in situ concentrations of inorganic N and P have been reported in overland/litter interflow from Sierran forests, indicating that these nutrients are derived from the forest floor O horizons. To test this hypothesis, forest floor monoliths consisting of the combined O(e) and O(i) horizons were collected near the South Shore of Lake Tahoe, Nevada, for leaching experiments. Three monoliths were left intact, and three were hand-separated according to horizon for a total of three treatments (combined O(e)+O(i), O(e) only, and O(i) only) by three replications. Samples were randomized and placed into lined leaching bins. Initial leaching consisted of misting to simulate typical early fall precipitation. This was followed by daily snow applications and a final misting to simulate spring precipitation. Leachate was collected, analyzed for NH(4)(+)-N, NO(3)(-)-N, and PO(4)(3-)-P, and a nutrient balance was computed. There was a net retention of NH(4)(+)-N, but a net release of both NO(3)(-)-N and PO(4)(3-)-P, and a net release of inorganic N and P overall. Total contributions (mg) of N and P were highest from the O(e) and O(e)+O(i) combined treatments, but when expressed as per unit mass, significantly (p < 0.05) higher amounts of NO(3)(-)-N and PO(4)(3-)-P were derived from the O(i) materials. The nutrients in forest floor leachate are a potential source of biologically available N and P to adjacent surface waters. Transport of these nutrients from the terrestrial to the aquatic system in the Lake Tahoe basin may therefore play a part in the already deteriorating clarity of the lake.     

Effects of increased deposition of atmospheric nitrogen on an upland Calluna moor: N and P transformations

This study determined the effects of increased N deposition on rates of N and P transformations in an upland moor. The litter layer and the surface of the organic Oh horizon were taken from plots that had received long-term additions of ammonium nitrate at rates of 40, 80 and 120 kg N ha(-1) yr(-1). Net mineralisation processes were measured in both field and laboratory incubations. Soil phosphomonoesterase (PME) activity and rates of N(2)O release were measured in laboratory incubations and root-surface PME activity measured in laboratory microcosms using Calluna vulgaris bioassay seedlings. Net mineralisation rates were relatively slow, with net ammonification consistently stimulated by N addition. Net nitrification was marginally stimulated by N addition in the laboratory incubation. N additions also increased soil and root-surface (PME) activity and rates of N(2)O release. Linear correlations were found between litter C:N ratio and all the above processes except net nitrification in field incubations. When compared with data from a survey of European forest sites, values of litter C:N ratio were greater than a threshold below which substantial, N input-related increases in net nitrification rates occurred. The maintenance of high C:N ratios with negligible rates of net nitrification was associated with the common presence of ericaceous litter and a mor humus layer in both this moorland as well as the forest sites.