Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

The Jarche–Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects; other visceral malformations are occasionally present. Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. Prenatal diagnosis by ultrasound examination during the second trimester was successfully accomplished in the second case.     

Desertification,and climate change: the case for greater convergence

Poor knowledge of links between desertification and globalclimate change is limiting funding from the Global Environment Facility foranti-desertification projects and realization of synergies between theConvention to Combat Desertification (CCD) and the FrameworkConvention on Climate Change (FCCC). Greater convergence betweenresearch in the two fields could overcome these limitations, improve ourknowledge of desertification, and benefit four areas of global climate changestudies: mitigation assessment; accounting for land cover change in thecarbon budget; land surface-atmosphere interactions; and climate changeimpact forecasting. Convergence would be assisted if desertification weretreated more as a special case in dry areas of the global process of landdegradation, and stimulated by: (a) closer cooperation between the FCCCand CCD; (b) better informal networking between desertification and globalclimate change scientists, e.g. within the framework of theIntergovernmental Panel on Climate Change (IPCC). Both strategies wouldbe facilitated if the FCCC and CCD requested the IPCC to provide ascientific framework for realizing the synergies between them.     

Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein,unconjugated oestriol,and human chorionic gonadotropin

Two prenatal centres in New England, routinely using a screening protocol for fetal Down syndrome that included maternal serum alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG) measurements in combination with maternal age, adopted a separate screening protocol for trisomy 18. That protocol identified a pregnancy as being at high risk when AFP, uE3, and hCG measurements all fell at or below specified cut-offs (0.75, 0.60, and 0.55 multiples of the median, respectively), regardless of maternal age. Among the first 19 491 women screened, 98 (0.5 per cent) were found to have values which placed them in the high-risk category. Four of these women were subsequently found not to be pregnant. In two others, samples from non-pregnant individuals were found to have been incorrectly submitted for analysis in place of the samples from the pregnant women. All of the remaining 92 women were counselled and offered amniocentesis and fetal karyotyping. Eighty-eight (96 per cent) accepted. Karyotypes or birth outcomes were available on all 92 pregnancies. Six cases of trisomy 18 and one case of Turner syndrome were identified by karyotype. One case of trisomy 18 was identified for every 14 unaffected pregnancies offered amniocentesis. In the present prospective study, an estimated 85 per cent of the cases of trisomy 18 were identified. However, given the small number ofcases (six), the 95 per cent confidence interval for the detection rate is broad (40–95 per cent).     

The JET Project

Nuclear fusion research aims to make available a new energy resource for mankind. This energy is released when isotopes of hydrogen fuse to form helium. The process occurs naturally in the centre of the Sun and similar very high temperature conditions are necessary to release fusion energy on earth. JET is a major European nuclear fusion experiment, it is intended to produce conditions approaching those necessary in a fusion reactor and to permit a realistic evaluation of the prospects for fusion as a future energy source.     

Second-trimester levels of maternal urinary gonadotropin peptide in down syndrome pregnancy

Urinary gonadotropin peptide (UGP; β-core fragment), a major metabolite of human chorionic gonadotropin (hCG), was shown recently to be markedly elevated in Down syndrome pregnancy between 19 and 22 weeks of gestation. To confirm and extend this finding, we obtained maternal urine and matching maternal serum samples from 14 cases of Down syndrome and six other aneuploidies between 17 and 21 weeks of gestation. UGP was measured in all these samples and in 91 singleton control urines. Results were corrected for urinary creatinine level and expressed as multiples of the control median (MOM). hCG levels were assayed in all serum samples from the cases and compared with previously established reference values. The median UGP level in Down syndrome cases was 5.34 MOM (range 2.71–12.57); 88 per cent of the values were above the 95th centile of control levels after modelling. The median maternal serum hCG level for the same cases was 2.20 MOM (range 0.84–3.40); 36 per cent of the values were above the 95th centile. The level of UGP in every case including all other aneuploidies was higher than the comparable maternal serum hCG level. Elevated UGP measurements are strongly associated with fetal Down syndrome during the second trimester and could contribute to improved Down syndrome screening protocols that are more accessible and less expensive than are currently available.     

Second-trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida

Unconjugated oestriol (uE3) and human chorionic gonadotropin (hCG) levels were determined in second-trimester maternal serum (MS) samples from 21 pregnancies associated with fetal anencephaly and 15 pregnancies associated with fetal open spina bifida. Each measurement was expressed as a multiple of the median (MoM) for unaffected pregnancies for each completed week of gestation. In pregnancies associated with anencephaly, the median value for MSuE3 was very low (0–17 MoM, range <0·12–0·33 MoM), suggesting a functional defect in the fetal adrenal prior to 20 weeks' gestation; the median value for MShCG was also low (0–73 MoM), although not to the same extent as for MSuE3. A biological explanation for the hCG result is not apparent. In pregnancies associated with open spina bifida, the MSuE3 and MShCG values were unremarkable, consistent with a lack of involvement of these open fetal defects in the synthesis and secretion of uE3 and hCG.     

A FRAMEWORK FOR QUANTITATIVE SMART GROWTH IN LAND DEVELOPMENT1

ABSTRACT: Increasing awareness about the problems brought on by urban sprawl has led to proactive measures to guide future development. Such efforts have largely been grouped under the term “Smart Growth.” Although not widely recognized as such, the “smart” in Smart Growth implies an optimization of some quantity or objective while undertaking new forms of urban development. In this study, we define Smart Growth as that development plan that leads to the optimal value of a precisely defined measure identified by a stakeholder or stakeholders. To illustrate a formal, quantitative framework for Smart Growth, this study develops definitions of optimal development from the perspectives of four different types of stakeholders: a government planner, a land developer, a hydrologist, and a conservationist subject to certain development constraints. Four different objective functions are posed that are consistent with each of these stakeholders’perspectives. We illustrate the differences in consequences on future development given these different objective functions in a stylized representation for Montgomery County, Maryland. Solutions to Smart Growth from the individual perspectives vary considerably. Tradeoff tables are presented that illustrate the consequences experienced by each stakeholder depending on the viewpoint that has been optimized. Although couched in the context of an illustrative example, this study emphasizes the need to apply rigorous, quantitative tools in a meaningful framework to address Smart Growth. The result is a tool that a range of parties can use to plan future development in ways that are environmentally and fiscally responsible and economically viable.     

Production and transmission of honey bee queen (Apis mellifera L.) mandibular gland pheromone

Summary The social cohesiveness of eusocial insect colonies is maintained primarily through the utilization of pheromones. In this study we quantitatively elucidated the production, secretion, and transmission of 9-keto2(E)-decenoic acid (9-ODA), one of the components of the mandibular gland pheromone of the honey bee queen Apis mellifera; this is the only identified primer pheromone complex in the eusocial insects. Mated queens produce 12–400 g of 9-ODA/day, or between 10% and 170% the average amount found in the glands at any one time. Approximately 0.5 g of 9-ODA is maintained on the body surface of queens by an equilibrium between exudation, internalization, tracking on the comb, and removal by workers. Retinue bees, attending the queen, remove the greatest amount, although the role of the wax as both a sink and a medium for pheromone transfer has been previously underestimated. Only about 1 in 10 retinue workers pick up substantial quantities of pheromone while attending the queen and, within seconds, most of the acquired 9-ODA is found externally on the abdomen, or in the gut. These attendants, also called messenger bees, transfer 9-ODA to other workers, mostly through direct contacts, but also via the wax. A model evaluating the pathways and relative quantities of 9-ODA transferred throughout the nest is presented. As well as being important for a basic understanding of the system, the results have implications for the proper design and use of pheromones in bee management.Offprint requests to: K. Naumann     

Treatment of swine wastewater in aerobic granular reactors: comparison of different seed granules as factors

The granulation process, physic-chemical properties, pollution removal ability and bacterial communities of aerobic granules with different feed-wastewater (synthetic wastewater, R1; swine wastewater, R2), and the change trend of some parameters of two types of granules in long-term operated reactors treating swine wastewater were investigated in this experiment. The result indicated that aerobic granulation with the synthetic wastewater had a faster rate compared with swine wastewater and that full granulation in R1 and R2 was reached on the 30th day and 39th day, respectively. However, although the feed wastewater also had an obvious effect on the biomass fraction and extracellular polymeric substances of the aerobic granules during the granulation process, these properties remained at a similar level after long-term operation. Moreover, a similar increasing trend could also be observed in terms of the nitrogen removal efficiencies of the aerobic granules in both reactors, and the average specific removal rates of the organics and ammonia nitrogen at the steady-state stage were 35.33 mg·g⁻¹ VSS and 51.46 mg·g⁻¹ VSS for R1, and 35.47 mg·g⁻¹ VSS and 51.72 mg·g⁻¹ VSS for R2, respectively. In addition, a shift in the bacterial diversity occurred in the granulation process, whereas bacterial communities in the aerobic granular reactor were not affected by the seed granules after long-term operation.