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Rationale: Congenital heart defects (CHD) are the most frequent group of congenital anomalies representing a significant burden of mortality and morbidity and health service load. Objective: In the Northern Ireland population, served by a single paediatric cardiology centre, we determine the prevalence and trends of CHD among live births. Methods: This is a descriptive cross-sectional population-based study, using the paediatric cardiology database. The study included a total of 245,120 live births representing all children born in Northern Ireland 2005-2014. Results: A total of 11,410 children (4.65% of live births in Northern Ireland) received an echocardiogram for suspected CHD, and 3,059 children were subsequently diagnosed with a major CHD (prevalence = 12.48 per 1,000 live births (95% CI 12.04–12.93)) of whom 490 (16.02%) had genetic or chromosomal disorders including Down syndrome. The prevalence of non-genetic or chromosomal cases was 10.48 per 1,000 live births (95% CI 10.08–10.89) and did not change significantly over time (p = 0.91). The prevalence of CHD diagnosed in the first year of life was 8.46 per 1,000 live births (95% CI 8.10–8.83), which increased over time (p < 0.01). The prevalence of severe CHD was 2.02 per 1,000 live births (95% CI 1.85–2.21). Conclusion: Northern Ireland has a high prevalence of CHD among European countries, which may be associated with complete ascertainment of both early and late diagnosed cases recorded in the paediatric cardiology database, as well as being one of the few European countries where terminations of pregnancy for foetal anomaly was illegal during the study period.

Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type lamins. This mutation activates a cryptic splice site, leading to the production of a truncated prelamin A, called prelamin A ∆50 or progerin, that accumulates in HGPS cell nuclei and is a hallmark of the disease. Some patients with PS carry other LMNA mutations and are named “HGPS-like” patients. They produce progerin and/or other truncated prelamin A isoforms (∆35 and ∆90). We previously found that MG132, a proteasome inhibitor, induced progerin clearance in classical HGPS through autophagy activation and splicing regulation. Here, we show that MG132 induces aberrant prelamin A clearance and improves cellular phenotypes in HGPS-like patients’ cells other than those previously described in classical HGPS. These results provide preclinical proof of principle for the use of a promising class of molecules toward a potential therapy for children with HGPS-like or classical HGPS.

Inexpensive, accurate, and rapid measurements of sodicity are required to identify the restoration options for degraded sites. This study determined the spatial variability of the percent of ammonium acetate extractable Na (%Na), apparent electrical conductivity (ECa), pH1:1, elevation and topographic wetness index, and used this information to create %Na management zones. In an 8.1 ha North Dakota field that contained Natraquolls and Calciaquolls, 1088 soil samples from the 0–0.3 and 0.3–0.6 m were collected from a 12.2 by 12.2 m geo-referenced grid. At each grid point, the elevation and ECa was determined using a differential corrected global positioning system and EM38m, respectively. Soil samples were analyzed for the %Na, EC1:1, pH1:1, and soil dispersion. Exponential semi-variogram models explained 96.7% of the ln-transformed %Na data in the 0–0.3 m soil depth, and %Na was correlated to EC1:1 (r = 0.54), pH1:1 (r = 0.68), clay dispersion (r = 0.68), ECav (r = 0.49), and ECah (r = 0.57). Forward stepwise regression models based on elevation, EC1:1, pH1:1, and ECah explained 64 and 74% of the %Na variability in the surface 0.3 m and subsurface 0.3–0.6 m, respectively. Management zones were identified that reduced the %Na variability up to 82%.

The United States and European Union (EU) face common challenges in managing natural capital and balancing conservation and resource use with consumption of other forms of capital. This paper synthesizes findings from 11 individual application papers from a special issue of Ecosystem Services on natural capital accounting (NCA) and their application to the public and private sectors in the EU and U.S. NCA is inherently a data-integration centered exercise, aiming to draw new insights by realigning environmental and economic data into a consistent framework. Drawing primarily on papers from the special issue and other key NCA literature, we identify lessons learned and gaps remaining for NCA’s development and application to decision making. In doing so, we identify eight key similarities and three major differences in NCA development, status, and application between the U.S. and EU. NCA can be highly policy relevant: special issue papers address critical issues including agriculture, water, conservation/land-use planning, climate, and corporate decision making. In both the U.S. and EU, further application is needed to drive demand for the accounts’ production. Based on these experiences, the U.S. and EU can be important leaders in cross-sector, international collaboration toward next-generation environmental economic accounts that advance global NCA practice.

Purpose To characterize the use of physical therapy (PT) and occupational therapy (OT) consultation in our pediatric intensive care unit (PICU). Materials and methods We studied children aged 1 week–18 years admitted to a tertiary care PICU for ≥ 3 days. Patient characteristics, details of PT and OT sessions and adverse events were collected. A multivariable logistic regression was performed to determine factors associated with receipt of PT and OT consultation with propensity analysis followed by a regression for factors associated with outcome. Results Of 138 children studied, 40 (29%) received PT and OT consultation. Services were initiated 6.9 ± 10.0 (mean ± standard deviation) days after PICU admission. Range of motion (83%) was the most common therapy provided and 28% of patients were ambulated. Sixty-four of 297 (21.5%) sessions were deferred and 7 (2.4%) sessions were terminated early due to physiologic instability with no serious adverse events. Children who received PT and OT were older, more likely to require neuromuscular blocking agents, and had lower pre-PICU POPC scores (all p Conclusions Data are needed to inform on the efficacy of rehabilitative therapies initiated in the ICU to improve outcome for critically ill children.

As survivable outcomes among patients with complex congenital heart disease (cCHD) have continued to improve over the last several decades, more attention is being dedicated to interventions that impact not just survival but quality of life among patients with cCHD. In particular, patients with cCHD are at risk for impaired neurodevelopmental outcomes. In this review summarizing select presentations given at the 14th Annual Pediatric Cardiac Intensive Care Society’s Annual Meeting in 2019, we discuss the neurodevelopmental phenotype of patients with cCHD, patients at greatest risk of impaired development, and three specific modifiable risk factors impacting development.

The demand for timely monetary estimates of the economic value of nonmarket ecosystem goods and services has steadily increased over the last few decades. This article describes the use of benefit transfer to generate monetary value estimates of ecosystem services specifically. The article provides guidance for conducting such benefit transfers and summarizes advancements in benefit transfer methods, databases and analysis tools designed to facilitate its application.

Subsurface-tile drainage is designed to remove gravitational water and soluble salts from the soil-root zone. However, soil swelling, as influenced by soil Na and electrical conductivity (EC), will reduce saturated hydraulic conductivity. The objective of the experiments reported in this paper was to determine the influence of Na and EC on the amount of water retained at field capacity (− 33 kPa) in northern Great Plains Na-affected soils. Field capacity water (gravimetric water content) for all soils increased with increasing sodium adsorption ratio (SAR) and decreasing EC, respectively. For example, at an EC of 4 dS m− 1, the amount of water retained at field capacity increased from 0.23 to 0.31 g g− 1 as SAR in the treatment solution increased from 7 to 28. For the Exline soil at 30–60 cm depth, field capacity water decreased from 0.31 to 0.18 g g− 1 when EC increased from 0.5 to 15 dS m− 1 at SAR 24. In general, across all SAR values, an EC greater than 4 dS m− 1 was required to prevent swelling. However, for soils with high natural salinity, no significant difference was observed for field capacity water using the above methods; high salt content and the presence of calcite in these soils may have reduced the potential for water retention and may have lower field capacity. Therefore, to maintain drainage performance in sodium-affected soils one should regularly monitor Na and EC within the soil profile so that EC values do not fall below critical threshold values.

Increases in anthropogenic emissions of sulfur (S) and nitrogen (N) have resulted in increases in the associated atmospheric deposition of acidic compounds. In sensitive watersheds, this deposition has initiated a cascade of negative environmental effects on aquatic ecosystems, resulting in a degradation or loss of valuable ecosystem goods and services. Here, we report the activities of an expert workgroup to synthesize information on acidic deposition-induced aquatic acidification from the published literature and to link critical load exceedances with ecosystem services and beneficiaries, using the Stressor–Ecological Production function–Final Ecosystem Services (STEPS) Framework and the Final Ecosystem Goods and Services Classification System (FEGS-CS). Experts identified and documented the sensitive aquatic ecosystem ecological endpoints valued by humans, and the environmental pathways through which these endpoints may experience degradation in response to acidification. Beneficiary groups were then identified for each sensitive ecological endpoint to clarify relationships between humans and the effects of aquatic acidification, and to lay the foundation for future research and analysis to value these FEGS.

Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type Lamins. This mutation activates a cryptic splice site leading to the deletion of 50 amino acids at its carboxy-terminal domain, resulting in a truncated and permanently farnesylated Prelamin A called Prelamin A Δ50 or Progerin. Some patients carry other LMNA mutations affecting exon 11 splicing and are named “HGPS-like” patients. They also produce Progerin and/or other truncated Prelamin A isoforms (Δ35 and Δ90) at the transcriptional and/or protein level. The results we present show that morpholino antisense oligonucleotides (AON) prevent pathogenic LMNA splicing, markedly reducing the accumulation of Progerin and/or other truncated Prelamin A isoforms (Prelamin A Δ35, Prelamin A Δ90) in HGPS-like patients’ cells. Finally, a patient affected with Mandibuloacral Dysplasia type B (MAD-B, carrying a homozygous mutation in ZMPSTE24, encoding an enzyme involved in Prelamin A maturation, leading to accumulation of wild type farnesylated Prelamin A), was also included in this study. These results provide preclinical proof of principle for the use of a personalized antisense approach in HGPS-like and MAD-B patients, who may therefore be eligible for inclusion in a therapeutic trial based on this approach, together with classical HGPS patients.

Concrete grinding residue (CGR) is a by-product created by concrete pavement maintenance operations. The application of CGR to roadside soils is not consistently regulated by state agencies across the USA, which is partially due to the lack of science-based information on its impacts to soils and plants. The objectives of this research were to determine the impact of CGR additions to soil on both smooth brome (Bromus inermis L.) biomass and plant and soil chemical parameters. In a greenhouse study, two soils were treated with two CGR by-products at 8% and 25% by weight. Shoot biomass was significantly influenced by the main effects (Soil, CGR, and Rate) and by all two-way interactions, but not consistently positively or negatively correlated. Trace metal concentrations in the shoot biomass were variable, but 68% of these metals had the same concentration or lower in the 25% CGR treatments compared with the controls. Soil pH and electrical conductivity were significantly influenced by the main effects and two-way interactions of Soil × Rate and CGR × Rate, and soil pH was significantly greater in the CGR-treated soils. Calcium, Na, Mg, Al, and S concentrations in soils were all influenced by additions of CGR, but trace metal levels in the treatments were all within the range for uncontaminated soils. Ecosystem impact of applying CGR will be dependent upon the quality of CGR and soil characteristics. Controlling the liming potential of CGR should be considered a best management practice.

Market-based approaches are increasingly being advocated as tools for achieving the conservation of ecosystem services. We examine the reasons why markets so far appear to have failed to provide an efficient allocation of many ecosystem services, and identify the conditions under which markets deliver efficient resource allocation. We discuss different forms of market-based approaches to ecosystem services and identify the characteristics of services that make them better suited to one or another of these approaches. We find that lack of low-cost measurability and valuation currently precludes efficient allocation of many ecosystem services through market-based approaches. Still, some forms of market-based approaches hold promise for cost-effectively managing some ecosystem services provided by and to agricultural lands. In many cases some form of well-designed government involvement will be required to seek outcomes that protect the public interest.

Previous estimates of the funding needed to secure a network of habitat conservation areas as defined by conservation planning efforts amount to approximately $5 billion to $8 billion per year over 40 years. We found that US federal and state spending on land conservation—which we use as a surrogate for habitat conservation spending—totaled $32 billion between 1992 and 2001. Moreover, state spending is very uneven geographically, with 80 percent of the investment coming from 20 percent of the states. Most of the federal investment is in short-term land-rental or cost-share programs rather than permanent easements or fee title acquisitions. These results suggest that the federal and state governments are not spending enough to create a network of habitat conservation areas, nor tracking spending or acreage adequately to determine the long-term effectiveness of this habitat conservation investment.

Conservation of species and their habitats yields economic benefits to society. The principal U.S. species conservation law, the Endangered Species Act (ESA), requires the designation of critical habitat for ESA-listed species. The ESA provides room for economic analysis to enter conservation decisions by stipulating that the decision to designate a particular area take into account the resulting economic impact. Unfortunately, the agencies implementing the ESA generally do not quantify the benefits of designation in their economic analyses, arguing that uncertainties associated with monetary quantification of benefits are too large. We examined that argument in a case study of critical habitat designation for the Canada lynx. We found that well-established valuation methodologies allow quantification of many of the benefits of designation. We further found that expected benefits of designation surpass expected costs in seven of our eight scenarios. This underscores the importance of including benefits in...

SummaryWe report an unusual case with discordant atrioventricular and ventriculoarterial connections. In addition to the commonly associated intracardiac anomalies ofventricular septal defect and subpulmonary tissue tags, a supravalvar ring was present above the left-sided, morphologically tricuspid valve. This case highlights the value of color flow Doppler echocardiography in making the diagnosis, particularly as the supravalvar ring was seen poorly angiographically.

New data are emerging on the use of palivizumab as prophylaxis against infection with the respiratory syncytial virus in infants with congenital cardiac disease. Following a 4-year multicentre randomised trial, it was shown that prophylactic injections with palivizumab were effective and safe for such children. Prophylaxis consists of 5, monthly, intramuscular injections of palivizumab, at a dose of 15 mg/kg, given during the season for infection with the respiratory syncytial virus. Timing is at the discretion of the physician, depending on the onset of the season locally. It is suggested that, in the United Kingdom, this should be commenced in mid-September. To help clinicians to identify appropriate candidates for palivizumab, a working group of the British Paediatric Cardiac Association has developed recommendations. Infants, namely those under 1 year old, with congenital cardiac disease likely to benefit from prophylaxis include those with haemodynamically significant lesions, particularly increased pulmonary blood flow with or without cyanosis; pulmonary venous congestion, pulmonary hypertension or long-term pulmonary complications, residual haemodynamic abnormalities following medical or surgical intervention (patients who have undergone cardiopulmonary bypass should receive an injection as soon as they are medically stable), cardiomyopathy requiring treatment, and congenital cardiac disease likely to need hospital admission for medical or surgical intervention during the season of infection with the virus. Prophylaxis with palivizumab may also be indicated, at the discretion of the physician, in some children with complex cardiac disease over the age of 1 year. Children less likely to benefit from prophylaxis are those with haemodynamically insignificant disease, or those with lesions adequately corrected by medical or surgical intervention.

Agriculture is experiencing an explosion of experimentation with flexible incentives to induce better environmental stewardship. The foregoing chapters present a range of incentives that span both public and private domains with a spectrum from wholly voluntary to largely coercive measures. The unifying element is the freedom of the agriculturalist to choose whether, and how, to adopt environmental technologies.

Incentive policies that promote the adoption of drip irrigation technology on tomato fields in southwest Florida are evaluated. A conceptual framework built upon the theory of derived demand was expanded to incorporate farmers’ perceptions of profitability and of public interest norms. The interaction between expected profitability and public interest norms was found to positively affect the initial decision to adopt drip irrigation technology. The intensity of adoption was determined by field-level agronomic and physical conditions. Two primary conclusions are offered: (1) incentive policies to promote the adoption of environmental technologies must incorporate the values of the target group and (2) any typology of flexible incentives should be expanded to encompass public interest norms.

This report is a critical review of the technical, economic, and institutional constraints on improving soil fertility in Sub-Saharan Africa, and the actions recommended to address them. Action plans prepared for Ghana, Kenya, Malawi, and Mali examine the demand for and supply of mineral fertilizers, the exploitation of local mineral resources, the prevention of soil erosion and increasing soil-water retention, and soil fertility management using organic technologies and management practices.