Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Determinants of parental decisions to abort for chromosome abnormalities

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.     

MODELING THE IMPACT OF MULTICOMPONENT VOCs ON GROUND WATER USING THE STEFAN‐MAXWELL EQUATION1

ABSTRACT: Computer programs that model the fate and transport of organic contaminants through porous media typically use Fick's first law to calculate vapor phase diffusion. Fick's first law, however, is limited to the case of a single, dilute species diffusing into a stagnant, high concentration, bulk vapor phase. When dealing with more than one diffusing species and at higher concentrations, the multicomponent coupling effects on vapor phase diffusion and advection of the various constituents become significant. VLEACH, a one‐dimensional finite difference model developed for the U.S. Environmental Protection Agency (USEPA), is typical of the models using Fick's first law to model vapor‐phase diffusion. The VLEACH model was modified to accommodate up to 10 components and to calculate the binary diffusion coefficients for each of the components based on molecular weight, molecular volume, temperature and pressure, and to address the coupling effects on multiple component vapor phase diffusion and its impact on ground water. The resulting model was renamed MC‐CHEMSOIL. At low vapor phase concentrations, MC‐CHEMSOIL predicts identical ground water impacts (dissolved phase loading) to those from VLEACH 2.2a. At higher vapor phase concentrations, however, the relative difference between the models exceeded 20 percent.     

PM10 concentration levels at an urban and background site in Cyprus: The impact of urban sources and dust storms

Air quality in Cyprus is influenced by both local and transported pollution, including desert dust storms. We examined PM₁₀ concentration data collected in Nicosia (urban representative) from April 1, 1993, through December 11, 2008, and in Ayia Marina (rural background representative) from January 1, 1999, through December 31, 2008. Measurements were conducted using a Tapered Element Oscillating Micro-balance (TEOM). PM₁₀ concentrations, meteorological records, and satellite data were used to identify dust storm days. We investigated long-term trends using a Generalized Additive Model (GAM) after controlling for day of week, month, temperature, wind speed, and relative humidity. In Nicosia, annual PM₁₀ concentrations ranged from 50.4 to 63.8 μg/m³ and exceeded the EU annual standard limit enacted in 2005 of 40 μg/m³ every year. A large, statistically significant impact of urban sources (defined as the difference between urban and background levels) was seen in Nicosia over the period 2000–2008, and was highest during traffic hours, weekdays, cold months, and low wind conditions. Our estimate of the mean (standard error) contribution of urban sources to the daily ambient PM₁₀ was 24.0 (0.4) μg/m³. The study of yearly trends showed that PM₁₀ levels in Nicosia decreased from 59.4 μg/m³ in 1993 to 49.0 μg/m³ in 2008, probably in part as a result of traffic emission control policies in Cyprus. In Ayia Marina, annual concentrations ranged from 27.3 to 35.6 μg/m³, and no obvious time trends were observed. The levels measured at the Cyprus background site are comparable to background concentrations reported in other Eastern Mediterranean countries. Average daily PM₁₀ concentrations during desert dust storms were around 100 μg/m³ since 2000 and much higher in earlier years. Despite the large impact of dust storms and their increasing frequency over time, dust storms were responsible for a small fraction of the exceedances of the daily PM₁₀ limit.

ImplicationsThis paper examines PM₁₀ concentrations in Nicosia, Cyprus, from 1993 to 2008. The decrease in PM₁₀ levels in Nicosia suggests that the implementation of traffic emission control policies in Cyprus has been effective. However, particle levels still exceeded the European Union annual standard, and dust storms were responsible for a small fraction of the daily PM₁₀ limit exceedances. Other natural particles that are not assessed in this study, such as resuspended soil and sea salt, may be responsible in part for the high particle levels.     

A framework for understanding climate change impacts on coral reef social–ecological systems

Corals and coral-associated species are highly vulnerable to the emerging effects of global climate change. The widespread degradation of coral reefs, which will be accelerated by climate change, jeopardizes the goods and services that tropical nations derive from reef ecosystems. However, climate change impacts to reef social–ecological systems can also be bi-directional. For example, some climate impacts, such as storms and sea level rise, can directly impact societies, with repercussions for how they interact with the environment. This study identifies the multiple impact pathways within coral reef social–ecological systems arising from four key climatic drivers: increased sea surface temperature, severe tropical storms, sea level rise and ocean acidification. We develop a novel framework for investigating climate change impacts in social–ecological systems, which helps to highlight the diverse impacts that must be considered in order to develop a more complete understanding of the impacts of climate change, as well as developing appropriate management actions to mitigate climate change impacts on coral reef and people.     

Utilizing international networks for accelerating research and learning in transformational sustainability science

A promising approach for addressing sustainability problems is to recognize the unique conditions of a particular place, such as problem features and solution capabilities, and adopt and adapt solutions developed at other places around the world. Therefore, research and teaching in international networks becomes critical, as it allows for accelerating learning by sharing problem understandings, successful solutions, and important contextual considerations. This article identifies eight distinct types of research and teaching collaborations in international networks that can support such accelerated learning. The four research types are, with increasing intensity of collaboration: (1) solution adoption; (2) solution consultation; (3) joint research on different problems; and (4) joint research on similar problems. The four teaching types are, with increasing intensity of collaboration: (1) adopted course; (2) course with visiting faculty; (3) joint course with traveling faculty; and (4) joint course with traveling students. The typology is illustrated by extending existing research and teaching projects on urban sustainability in the International Network of Programs in Sustainability, with partner universities from Europe, North America, Asia, and Africa. The article concludes with challenges and strategies for extending individual projects into collaborations in international networks.