Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

A mother who had given birth to a child with Schwartz–Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz–Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.     

Chancen der Windenergienutzung

The exploitation of wind energy, being one of the nonconventional regenerative energy sources, got an increasing interest since about six years. The assessment of the economic situation is still complicated, not only concerning small windmills for the private user (power range up to 10kW) but also the large power plants (MW range) designed to supply electric energy to the national grids. Reason of this situation is the lack of complete meteorological data at locations considered to be suitable and the development of the wind energy converters being still on the way. Exploitation of wind energy including the estimation of economy must be in developing countries a part of a national energy strategy.     

First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down syndrome pregnancies and 115 unaffected pregnancies before chorionic villus sampling (CVS), between 9 and 11 completed weeks of pregnancy. The samples were matched for gestational age, maternal age, maternal weight and duration of storage of the serum sample. Maternal TSH concentration was slightly decreased in Down syndrome pregnancies, with a median of 0.84 multiples of the median (MoM). Maternal serum human chorionic gonadotropin (hCG) concentration was slightly elevated in Down syndrome pregnancies, with a median of 1.03 MoM. Both differences were not significant applying matched rank analysis (p=0.50 for TSH and p=0.43 for hCG). The association between TSH and hCG in unaffected pregnancies was also measured. The Spearman correlation coefficient between TSH and hCG was −0.21 which was statistically significant (p=0.02, 95% confidence interval −0.38 to −0.03). However, it was concluded that TSH is not a useful marker for distinguishing Down syndrome-affected pregnancies from normal pregnancies in the first trimester. Copyright © 2001 John Wiley & Sons, Ltd.     

Ecological success of the cladoceran <Emphasis Type="Italic">Penilia avirostris</Emphasis> in the marine environment: feeding performance,gross growth efficiencies and life history

Marine cladocerans are important contributors to the zooplankton community of tropical and temperate coastal ecosystems during the warmer months, when they show explosive population growth. Despite this fact, little information is available on their ecology compared with the extensive studies on their freshwater relatives. The main objective of this study was to determine the in situ feeding and growth rates, and life history parameters of Penilia avirostris in São Sebastião Bay (Brazil) during austral summer 2004, as a premise to understand the advantages of this cladoceran in oligotrophic waters. Culture development experiments, monitored for a period of 12 days, showed that maximum juvenile release occurred after 2 days, and that the development duration of a complete cohort was around 9 days. From bottle incubation grazing experiments, significant ingestion rates upon flagellates, ciliates, dinoflagellates and diatoms were detected. Flagellates were the most important contributors to P. avirostris diet (ca. 80%). P. avirostris ingested between 28 and 97% of its own carbon biomass per day (daily ration) and individual growth rates of this marine cladoceran (0.10–0.24 d^?1) increased with prey availability. The combination of ingestion rates of natural prey and growth rates provided gross growth efficiencies (GGE) of 15–53%, on a carbon basis. Our results suggest that P. avirostris has similar GGE to copepods, although at low food conditions the values for the marine cladocerans seems slightly higher. However, this characteristic alone does not explain the explosive growth and community dominance shown by P. avirostris. Therefore, other traits related to the reproductive biology of the species, such as short generation time, parthenogenetic reproduction, and continuous somatic growth, seems to be mostly responsible for the success of P. avirostris in many marine ecosystems during their seasonal occurrence.     

Generation of Ensemble Streamflow Forecasts Using an Enhanced Version of the Snowmelt Runoff Model1

Harshburger, Brian J., Von P. Walden, Karen S. Humes, Brandon C. Moore, Troy R. Blandford, and Albert Rango, 2012. Generation of Ensemble Streamflow Forecasts Using an Enhanced Version of the Snowmelt Runoff Model. Journal of the American Water Resources Association (JAWRA) 48(4): 643‐655. DOI: 10.1111/j.1752‐1688.2012.00642.x Abstract: As water demand increases in the western United States, so does the need for accurate streamflow forecasts. We describe a method for generating ensemble streamflow forecasts (1‐15 days) using an enhanced version of the snowmelt runoff model (SRM). Forecasts are produced for three snowmelt‐dominated basins in Idaho. Model inputs are derived from meteorological forecasts, snow cover imagery, and surface observations from Snowpack Telemetry stations. The model performed well at lead times up to 7 days, but has significant predictability out to 15 days. The timing of peak flow and the streamflow volume are captured well by the model, but the peak‐flow value is typically low. The model performance was assessed by computing the coefficient of determination (R²), percentage of volume difference (Dv%), and a skill score that quantifies the usefulness of the forecasts relative to climatology. The average R² value for the mean ensemble is >0.8 for all three basins for lead times up to seven days. The Dv% is fairly unbiased (within ±10%) out to seven days in two of the basins, but the model underpredicts Dv% in the third. The average skill scores for all basins are >0.6 for lead times up to seven days, indicating that the ensemble model outperforms climatology. These results validate the usefulness of the ensemble forecasting approach for basins of this type, suggesting that the ensemble version of SRM might be applied successfully to other basins in the Intermountain West.     

Improved sample preparation and GC–MS analysis of priority organic pollutants

Mass spectrometry is a major tool for analysing organic pollutants. However, scientists often complain about laborious sample preparation. The development of new commercial high-resolution mass spectrometers gives a chance to improve simultaneously speed, reliability, and sensitivity of the analysis. Here, we used the time-of-flight high-resolution mass spectrometer Pegasus GC-HRT to identify and quantify 55 priority organic pollutants in water samples. This mass spectrometer has a high resolution of 50,000, a high mass accuracy of about 1 ppm and a very high acquisition rate of up to 200 full mass range spectra per second. 1 mL water samples were extracted with 1 mL dichloromethane. Results show that the sample preparation and analysis are achieved 30 times faster, requiring 1,000 times less water and 350 times less solvent than the classic 8270 method of the United States Environmental Protection Agency. The detection limit is 1 μg/L. The quantification limit is 10 μg/L. Our procedure, named accelerated water sample preparation, is simpler, faster, cheaper, safer and more reliable than 8270 Method.     

Governance models for nature-based solutions: Seventeen cases from Germany

Nature-based solutions (NBS) for mitigating climate change are gaining popularity. The number of NBS is increasing, but research gaps still exist at the governance level. The objectives of this paper are (i) to give an overview of the implemented NBS for flood risk management and mitigation in Germany, (ii) to identify governance models that are applied, and (iii) to explore the differences between these models. The results of a hierarchical clustering procedure and a qualitative analysis show that while no one-size-fits-all governance model exists, polycentricism is an important commonality between the projects. The study concludes by highlighting the need for further research on traditional governance model reconversion and paradigm changes. We expect the findings to identify what has worked in the past, as well as what is important for the implementation of NBS for flood risk management in future projects.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01412-x) contains supplementary material, which is available to authorized users.