Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome of >1 in 10. The maternal serum human chorionic gonadotrophin (MShCG) was markedly elevated at 4.19 MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth restriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chromosome 14 was also associated with fetal growth restriction and elevated second trimester MShCG, suggesting a common link. Further studies need to be done to determine if indeed elevation of second trimester MShCG is associated with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Copyright © 2001 John Wiley & Sons, Ltd.     

Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

Carbon mitigation potential and costs of forestry options in Brazil,China, India,Indonesia, Mexico,the Philippines and Tanzania

This paper summarizes studies of carbon (C) mitigation potential and costs of about 40 forestry options in seven developing countries. Each study uses the same methodological approach – Comprehensive Mitigation Assessment Process (COMAP) – to estimate the above parameters between 2000 and 2030. The approach requires the projection of baseline and mitigation land-use scenarios. Coupled with data on a per ha basis on C sequestration or avoidance, and costs and benefits, it allows the estimation of monetary benefit per Mg C, and the total costs and carbon potential. The results show that about half (3.0 Pg C) the cumulative mitigation potential of 6.2 Petagram (Pg) C between 2000 and 2030 in the seven countries (about 200× 10⁶ Mg C yr^-1) could be achieved at a negative cost and the remainder at costs ranging up to $100 Mg C^-1. About 5 Pg C could be achieved, at a cost less than $20 per Mg C. Negative cost potential indicates that non-carbon revenue is sufficient to offset direct costs of these options. The achievable potential is likely to be smaller, however, due to market, institutional, and sociocultural barriers that can delay or prevent the implementation of the analyzed options.     

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Visible light photocatalytic bismuth oxide coatings are effective at suppressing aquatic cyanobacteria and degrading free-floating genomic DNA

Access to safe drinking water free from microbial pollution is an issue of global concern. The use of photocatalytic thin films in water treatment has focused on titanium dioxide, which requires UV-activation, proving a potential barrier to upscaling and implementation in the real world. Visible-light-activated photocatalytic thin films, such as bismuth oxide, have recently been shown to have antimicrobial properties. However, more understanding of the photocatalytic effect on the microbial population in water is required. Glass beads coated with bismuth oxide were incubated with either Microcystis aeruginosa, Anabaena sp. or free-floating genomic DNA. The presence of bismuth oxide-coated glass beads was able to rapidly stop a population of cyanobacteria from increasing. The coated beads were also able to degrade genomic DNA. Leachate from the beads showed no increase in toxicity against human liver cells. This data demonstrates the efficacy of bismuth oxide-coated glass beads for controlling potentially dangerous cyanobacterial populations, whilst potentially reducing the amount of free-floating genomic DNA (an essential issue in the face of antimicrobial resistance) – all of which should be essential considerations in emerging water treatment technologies.     

NUTGRANJA 2.0: a simple mass balance model to explore the effects of different management strategies on nitrogen and greenhouse gases losses and soil phosphorus changes in dairy farms

Farm nutrient management has been identified as one of the most important factors determining the economic and environmental performance of dairy cattle (Bos taurus) farming systems. Given the environmental problems associated with dairy farms, such as emissions of greenhouse gases (GHG), and the complex interaction between farm management, environment and genetics, there is a need to develop robust tools which enable scientists and policy makers to study all these interactions. This paper describes the development of a simple model called NUTGRANJA 2.0 to evaluate GHG emissions and nitrogen (N) and phosphorus (P) losses from dairy farms. NUTGRANJA 2.0 is an empirical mass-balance model developed in order to simulate the main transfers and flows of N and P through the different stages of the dairy farm management. A model sensitivity test was carried out to explore some of the sensitivities of the model in relation to the simulation of GHG and N emissions. This test indicated that both management (e.g. milk yield per cow, annual fertiliser N rate) and site-specific factors (e.g. % clover (Trifolium) in the sward, soil type, and % land slope) had a large effect on most of the model state variables studied (e.g. GHG and N losses).     

A multidisciplinary study of archaeological grape seeds

We report here the first integrated investigation of both ancient DNA and proteins in archaeobotanical samples: medieval grape (Vitis vinifera L.) seeds, preserved by anoxic waterlogging, from an early medieval (seventh–eighth century A.D.) Byzantine rural settlement in the Salento area (Lecce, Italy) and a late (fourteenth–fifteenth century A.D.) medieval site in York (England). Pyrolysis gas chromatography mass spectrometry documented good carbohydrate preservation, whilst amino acid analysis revealed approximately 90% loss of the original protein content. In the York sample, mass spectrometry-based sequencing identified several degraded ancient peptides. Nuclear microsatellite locus (VVS2, VVMD5, VVMD7, ZAG62 and ZAG79) analysis permitted a tentative comparison of the genetic profiles of both the ancient samples with the modern varieties. The ability to recover microsatellite DNA has potential to improve biomolecular analysis on ancient grape seeds from archaeological contexts. Although the investigation of five microsatellite loci cannot assign the ancient samples to any geographic region or modern cultivar, the results allow speculation that the material from York was not grown locally, whilst the remains from Supersano could represent a trace of contacts with the eastern Mediterranean.     

Streamwater phosphorus and nitrogen across a gradient in rural–agricultural land use intensity

This paper provides an overview of the impacts of rural land use on lowland streamwater phosphorus (P) and nitrogen (N) concentrations and P loads and sources in lowland streams. Based on weekly water quality monitoring, the impacts of agriculture on streamwater P and N hydrochemistry were examined along a gradient of rural–agricultural land use, by monitoring three sets of ‘paired’ (near-adjacent) rural headwater streams, draining catchments which are representative of the major geology, soil types and rural/agricultural land use types of large areas of lowland Britain. The magnitude and timing of P and N inputs were assessed and the load apportionment model (LAM) was applied to quantify ‘continuous’ (point) source and ‘flow-dependent’ (diffuse) source contributions of P to these headwater streams. The results show that intensive arable farming had only a comparatively small impact on streamwater total phosphorus (TP loads), with highly consistent stream diffuse-source TP yields of ca. 0.5 kg-P ha^?1 year^?1 for the predominantly arable catchments with both clay and loam soils, compared with 0.4 kg-P ha^?1 year^?1 for low agricultural intensity grassland/woodland on similar soil types. In contrast, intensive livestock farming on heavy clay soils resulted in dramatically higher stream diffuse-source TP yields of 2 kg-P ha^?1 year^?1. The streamwater hydrochemistry of the livestock-dominated catchment was characterised by high concentrations of organic P, C and N fractions, associated with manure and slurry sources. Across the study sites, the impacts of human settlement were clearly identifiable with effluent inputs from septic tanks and sewage treatment works resulting in large-scale increases in soluble reactive phosphorus (SRP) loads and concentrations. At sites heavily impacted by rural settlements, SRP concentrations under baseflow conditions reached several hundred μg-P L^?1. Load apportionment modelling demonstrated significant ‘point-source’ P inputs to the streams even where there were no sewage treatment works within the upstream catchment. This indicates that, even in sparsely populated rural headwater catchments, small settlements and even isolated groups of houses are sufficient to cause significant nutrient pollution and that septic tank systems serving these rural communities are actually operating as multiple point sources, rather than a diffuse input.