Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end-stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities. Prenatal diagnosis most often occurs using ultrasonography; however, further genetic diagnosis may be made using a variety of testing strategies. Family history and pathologic examination can also provide information to improve the ability to make a prenatal diagnosis of CAKUT. Here, we provide a comprehensive overview of genetic considerations in the prenatal diagnosis of CAKUT disorders. Specifically, we discuss monogenic causes of CAKUT, associated ultrasound characteristics, and considerations for genetic diagnosis, antenatal care, and postnatal care.     

Acidification of a solonetzic soil by nitrogenous fertilizers

Abstract

Annual applications of (NH₄)₂SO₄ NH₄NO₃ and urea on a Solonetzic soil at 112 kg N/ha for 10 consecutive years reduced pH levels from 5.6 for the check to 4.4, 4.9 and 5.3, respectively for (NH₄)₂SO₄, NH₄NO₃ and urea. (NH₄)₂SO₄ generated twice as much exchange acidity as NH₄NO₃ and four times as much as urea. Net extractable cations leached from the Ap horizon closely approximated the amount of exchange acidity generated by (NH₄)₂SO₄ and NH₄NO₃ fertilizers. The levels of soil extractable Al and Mn were greatly enhanced by (NH₄)₂SO₄ as were plant contents. Similar acidifying effects to that produced by the (NH₄)₂SO₄ occurred when NH₄NO₃ was applied at 300 kg N/ha annually for 12 consecutive years in another field experiment on the same soil. Liming samples of the field (NH₄)₂SO₄ acidified soils in the greenhouse, significantly increased yields and lowered the Al and Mn contents of the plants to normal levels.     

Nitrogen saturation in stream ecosystems

The concept of nitrogen (N) saturation has organized the assessment of N loading in terrestrial ecosystems. Here we extend the concept to lotic ecosystems by coupling Michaelis-Menten kinetics and nutrient spiraling. We propose a series of saturation response types, which may be used to characterize the proximity of streams to N saturation. We conducted a series of short-term N releases using a tracer (15NO3-N) to measure uptake. Experiments were conducted in streams spanning a gradient of background N concentration. Uptake increased in four of six streams as NO3-N was incrementally elevated, indicating that these streams were not saturated. Uptake generally corresponded to Michaelis-Menten kinetics but deviated from the model in two streams where some other growth-critical factor may have been limiting. Proximity to saturation was correlated to background N concentration but was better predicted by the ratio of dissolved inorganic N (DIN) to soluble reactive phosphorus (SRP), suggesting phosphorus limitation in several high-N streams. Uptake velocity, a reflection of uptake efficiency, declined nonlinearly with increasing N amendment in all streams. At the same time, uptake velocity was highest in the low-N streams. Our conceptual model of N transport, uptake, and uptake efficiency suggests that, while streams may be active sites of N uptake on the landscape, N saturation contributes to nonlinear changes in stream N dynamics that correspond to decreased uptake efficiency.     

Contamination in sediments, bivalves and sponges of McMurdo Sound, Antarctica

This study examined the concentrations of total hydrocarbons (THC), polychlorinated biphenyls (PCB), polyaromatic hydrocarbons (PAH), and trace metals (Cu, Zn, Cd, Pb, Hg and As) in marine sediments off Scott Base (NZ) and compared them with sediments near the highly polluted McMurdo Station (US) as well as less impacted sites including Turtle Rock and Cape Evans. The Antarctic mollusc, Laternula elliptica and three common sponge species were also analysed for trace metals. The mean THC concentration in sediments from Scott Base was 3 fold higher than the pristine site, Turtle Rock, but 10 fold lower than samples from McMurdo Station. McMurdo Station sediments also contained the highest concentrations of PAHs, PCBs and the trace metals, Cu, Zn, Pb, Cd and Hg. Copper was significantly higher in bivalves from McMurdo Station than other sites. Trace metal concentrations in sponges were generally consistent within sites but no spatial patterns were apparent.     

Chemical Partitioning to Foliage: The Contribution and Legacy of Davide Calamari

- DOI: http://dx.doi.org/10.1065/espr2006.01.002 Background Davide Calamari and his colleagues were among the first to appreciate that vegetation could play a key role in determining the fate and effects of organic contaminants. They conducted pioneering experiments to investigate the uptake of contaminants by plants from the atmosphere and they sought to model the observed phenomena. In the nearly two decades since there has been a marked increase in understanding of these phenomena as a result of both experimental and modelling studies. - Goal. In this study we briefly review our current understanding of chemical partitioning between foliage and air. A model in both fugacity and concentration format is described, based on that of Tolls and McLachlan (1994), in which the leaf is treated as consisting of two layers, a waxy cuticle with an underlying 'reservoir' layer, the cuticle being surrounded by an air boundary layer and containing stomata that provide direct access from the air to the 'reservoir'. The model quantifies the dynamic penetration of a defined chemical into a defined leaf as a function of time. Main Features The model is applied for illustrative purposes to a hypothetical but typical leaf for a set of illustrative chemicals to demonstrate the effect of changes in physical-chemical properties and leaf characteristics. Discussion The results are compared qualitatively with a variety of field and laboratory studies of foliage uptake and clearance of chemicals. Conclusion It is concluded that the model yields results that are generally consistent with observations. It is suggested that with appropriate parameterisation and validation, the model can contribute to an improved understanding of the process of foliage uptake from the atmosphere and to the development of an improved predictive capability.     

Methane fluxes in aerobic soils

Aerobic soils are an important sink for methane (CH₄), contributing up to 15% of global CH₄ destruction. However, the sink strength is significantly affected by land management, nitrogen (N) fertilizers and acidity. The rates of uptake from the atmosphere of both enhanced (10 ppmv) and ambient (2 ppmv) concentrations of CH₄ were measured in laboratory incubations of soil cores under controlled conditions taken from sites in the U.K. and Germany. The most rapid rates of uptake were measured in soil from deciduous woodland at pH 4 (measured in water). Extended (150 years) cultivation of land for arable crops reduced uptake rate by 85% compared to that in the same soil under an adjacent woodland. The long-term application of ammonium (NH₄)-based fertilizer, but not nitrate (NO₃)-based fertilizer, completely inhibited CH₄ uptake, but the application for the same period of farmyard manure (FYM) that contained more N than the fertilizer had no inhibitory effect. Where a combination of FYM and inorganic fertilizer was applied there was a reduction in methane uptake rate compared to plots receiving solely FYM.Autoclaving showed that the uptake of CH₄ was microbially mediated. The most likely causes of the inhibitory effects seen are (i) insufficient concentrations of CH₄ in situ to activate methane monooxygenase; (ii) the direct inhibition of CH₄ oxidation by NH _inf4 ^sup+ ions; (iii) the suppression of methanotrophs by NH₄-based fertilizers; (iv) the requirement of methanotrophs for a stable soil architecture which is incompatible with the disturbance caused by regular arable cultivation.     

Determining floodplain sedimentation rates using Cs in a low fallout environment dominated by channel- and cultivation-derived sediment inputs, central Queensland, Australia

Fallout ¹³⁷Cs has been widely used to determine floodplain sedimentation rates in temperate environments, particularly in the northern hemisphere. Its application in low fallout, tropical environments in the southern hemisphere has been limited. In this study we assess the utility of ¹³⁷Cs for determining rates of floodplain sedimentation in a dry-tropical catchment in central Queensland, Australia. Floodplain and reference site cores were analysed in two centimetre increments, depth profiles were produced and total ¹³⁷Cs inventories calculated from the detailed profile data. Information on the rates of ¹³⁷Cs migration through local soils was obtained from the reference site soil cores. This data was used in an advection–diffusion model to account of ¹³⁷Cs mobility in floodplain sediment cores. This allowed sedimentation rates to be determined without the first year of detection for ¹³⁷Cs being known and without having to assume that ¹³⁷Cs remains immobile following deposition. Caesium-137 depth profiles in this environment are demonstrated to be an effective way of determining floodplain sedimentation rates. The total ¹³⁷Cs inventory approach was found to be less successful, with only one of the three sites analysed being in unequivocal agreement with the depth profile results. The input of sediment from catchment sources that have little, or no, ¹³⁷Cs attached results in true depositional sites having total inventories that are not significantly different from those of undisturbed reference sites.     

Measurement of organic contaminants and biological effects in Scottish waters between 1999 and 2005

Concentrations of organic contaminants were determined in sediment and fish collected annually at six sites around Scotland between 1999 and 2005, as part of the UK National Marine Monitoring Programme. Polycyclic aromatic hydrocarbons (PAHs) and chlorobiphenyls (CBs) were measured in sediment, while CBs and ethoxyresorufin-O-deethylase (EROD) activities were measured in the fish. Highest PAH concentrations in sediment were found at sites where higher coastal influences would be expected (e.g., Clyde and Solway) and four of the six sites gave PAH concentrations above OSPAR background assessment concentrations (BACs). A significant downward trend in the median total PAH concentrations, normalised to total organic carbon (TOC), was found at one of the six sites (Minches). The PAH profiles at all sites were consistent over the 6 year period, indicating that the sites are relatively stable and PAH sources are not changing. There was an indication of a greater petrogenic input on the west coast, with sediment from the Clyde, Solway and Minches having a greater proportion of 2- and 3-ring PAHs and a lower proportion of 5-ring PAHs. CB concentrations at all sites were low compared with UK estuarine sites and similar to sediment from more remote areas: however, BACs were exceeded. No significant trends were detected in either the sediment CB concentrations or patterns at any of the six sites. CB concentrations were significantly higher in fish liver collected from the Clyde. Concentrations at the other five sites were low, with the majority of samples having concentrations for the ICES7 CBs of <500 microg kg(-1) lipid weight. However, individual CB concentrations were still above the BACs. Hepatic EROD activities were measured in male plaice from 2002-2005 and were generally low (<10 pmol min(-1) mg protein(-1)). No temporal trends were detected in either CB concentrations or the EROD activity.     

Stratification and Circulation in a Shallow Turbid Waterbody

Shallow waterbodies are often assumed to be well mixed in the vertical. However, when they are characterised by high turbidity levels, absoption of solar heating within a relatively thin surface layer can produce thermal stratification. Results from an intensive monitoring program have been combined with three-dimensional circulation modelling to examine the diurnal stratification cycles in a small turbid waterbody. The waterbody, known as Rushy Billabong, is located in southeastern Australia and its high turbidity coupled with forcing by wind and solar radiation resulted in regular diurnal cycles of stratification and overturning. Under conditions of light wind and high solar radiation, the model results were generally consistent with the observed temperature field. However, under stronger winds, preferential cooling and sinking of shallow water around the edge of the lake began to contribute significantly to the interior stratification. Model estimates then became more sensitive to the detailed bathymetry and the choice of turbulence parameterisation. The level of stratification is also shown to influence the circulation in the billabong by trapping the wind-driven flow near the surface. Insights provided by the observations and modelling may have broader implications for the management of small turbid systems such as settling ponds, aquaculture ponds, and some natural wetlands.