Roman water management impacted the hydrological functioning of wetlands during drought periods.

During the Roman domain of the Iberian Peninsula (from 201 BCE to 460 CE) water management infrastructures were built to satisfy high water demand. However, whether the Roman activities affected the hydrological balance of Iberian wetlands remains unclear. Here, we investigate the paleo-hydrology of Lake Zóñar (southern Iberia) by using the stable isotopes (16O, 17O, 18O, 1H and 2H) of its gypsum (CaSO4·2H2O) sediments and reconstruct the isotopic composition of the lake water during Roman times. A period of recurrent lake low stand occurred between 2120 and 1890 cal. yr BP (ca. 170 BCE to 60 CE), coinciding with a relatively dry climate stage recorded by most regional paleoclimate archives. The stable isotopes and hydrochemistry of the lake water during gypsum precipitation are consistent with a shallow saline lake that evaporated under relative humidity ~ 10% lower than the present annual mean and at least 20% less rainfall amount. Our analytical and archeological findings support lake level lowering during the Roman period was probably caused by combined arid climate conditions and diversion of the inlets feeding the lake. Spring capturing was likely necessary to satisfy the high water demand of nearby Roman settlements, in the framework of a period of persistent droughts.

High diversity and isolated distribution of aquatic heterotrophic protists in salars of the Atacama Desert at different salinities.

The species richness of eukaryotes in the hypersaline environment is generally thought to be low. However, recent studies showed a high degree of phylogenetic novelty at these extreme conditions with variable chemical parameters. These findings call for a more thorough look into the species richness of hypersaline environments. In this study, various hypersaline lakes (salars, 1-348 PSU) as well as further aquatic ecosystems of northern Chile were investigated regarding diversity of heterotrophic protists by metabarcoding studies of surface water samples. Investigations of genotypes of 18S rRNA genes showed a unique community composition in nearly each salar and even among different microhabitats within one salar. The genotype distribution showed no clear connection to the composition of main ions at the sampling sites, but protist communities from similar salinity ranges (either hypersaline, hyposaline or mesosaline) clustered together regarding their OTU composition. Salars appeared to be fairly isolated systems with only little exchange of protist communities where evolutionary lineages could separately evolve.

17 O-excess and d-excess of atmospheric water vapor measured by cavity ring-down spectrometry: Evidence of a matrix effect and implication for the calibration procedure.

RATIONALE: Producing robust high-frequency time series of raw atmospheric water vapor isotope data using laser spectrometry requires accurate calibration. In particular, the chemical composition of the analyzed sample gas can cause isotope bias. This study assesses the matrix effect on calibrated δ17 O, δ18 O, δ2 H, 17 O-excess, and d-excess values of atmospheric water vapor. METHODS: A Picarro L2140-i cavity ring-down spectrometer with an autosampler and a vaporizer is used to analyze δ17 O, δ18 O, δ2 H, 17 O-excess, and d-excess of two water standards. Isotope data obtained using synthetic air and dry ambient air as carrier gas at water mixing ratios ranging from 2000 to 30 000 ppmv are compared. Based on the results, atmospheric water vapor measurements are calibrated. The expected precision is estimated by Monte Carlo simulation. RESULTS: The dry air source strongly impacts raw isotope values of the two water standards but has no effect on the mixing ratio dependency functions. When synthetic air is used, δ17 O, δ18 O, and 17 O-excess of calibrated atmospheric water vapor are overestimated by 0.6‰, 0.7‰, and 217 per meg, respectively, whereas δ2 H and d-excess are underestimated by 1.5‰ and 7.3‰. Optimum precisions for the calibrated δ17 O, δ18 O, δ2 H, 17 O-excess, and d-excess values and 12 min integration time are 0.02‰, 0.03‰, 0.4‰, 14 per meg, and 0.4‰, respectively. CONCLUSIONS: Regarding the obtained results, recommendations for the calibration of atmospheric water vapor isotope measurements are presented. The necessity to use dry ambient air as dry air source when running the standards for calibration is pointed out as a prerequisite for accurate atmospheric water vapor 17 O-excess and d-excess measurements.

Aluminum Melt Filtration with Carbon Bonded Alumina Filters.

The wetting behavior was measured for Al2O3-C in contact with AlSi7Mg with a conventional sessile drop test (vacuum, 950 °C and 180 min) and a sessile drop test with a capillary purification unit (vacuum, 730 °C and 30 min). The conventional test yielded contact angles of around 92°, whereas the sessile drop measurement with capillary purification showed a strongly non-wetting behavior with a determined apparent contact angle of the rolling drop of 157°. Filtration tests, which were repeated twice, showed that the Al2O3-C filter possessed a better filtration behavior than the Al2O3 reference filter. For both filtration trials, the PoDFA (porous disc filtration analysis) index of the Al2O3-C filter sample was equal to half of the PoDFA index of the Al2O3 reference filter sample, indicating a significantly improved filtration performance when using Al2O3-C filter. Notable is the observation of a newly formed layer between the aluminum and the Al2O3-C coating. The layer possessed a thickness between 10 µm up to 50 µm and consisted of Al, C, and O, however, with different ratios than the original Al2O3-C coating. Thermodynamic calculations based on parameters of the wetting and filtration trials underline the possible formation of an Al4O4C-layer.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

BACKGROUND: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892). METHODS AND RESULTS: We performed exome sequencing in two familial cases with clinical features overlapping with MFDGA and EA, but which were previously assumed to represent distinct entities, a syndrome with esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and intellectual disability in a mother and her two children [AJMG 143A(11):1135-1142, 2007] and a supposedly autosomal recessive oto-facial syndrome with midline malformations in two sisters [AJMG 132(4):398-401, 2005]. While the analysis of our exome data was in progress, a recent publication made EFTUD2 mutations highly likely in these families. This hypothesis could be confirmed with exome as well as with Sanger sequencing. Also, in three further sporadic patients, clinically overlapping to these two families, de novo mutations within EFTUD2 were identified by Sanger sequencing. Our clinical and molecular workup of the patients discloses a broad phenotypic spectrum, and describes for the first time an instance of germline mosaicism for an EFTUD2 mutation. CONCLUSIONS: The clinical features of the eight patients described here further broaden the phenotypic spectrum caused by EFTUD2 mutations or deletions. We here show, that it not only includes mandibulofacial dysostosis type Guion-Almeida, which should be reclassified as an acrofacial dysostosis because of thumb anomalies (present in 12/35 or 34% of patients) and syndromic esophageal atresia [JMG 49(12). 737-746, 2012], but also the two new syndromes, namely oto-facial syndrome with midline malformations published by Mégarbané et al. [AJMG 132(4): 398-401, 2005] and the syndrome published by Wieczorek et al. [AJMG 143A(11): 1135-1142, 2007] The finding of mild phenotypic features in the mother of one family that could have been overlooked and the possibility of germline mosaicism in apparently healthy parents in the other family should be taken into account when counseling such families.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was complicated by polyhydramnios, and both had hyperbilirubinemia and persistent fetal circulation. Development was normal in one patient and slightly delayed in the other. At 13 years, both had round faces with full cheeks, thick scalp hair and eyebrows, a low frontal hairline, hirsutism, hyperextensible joints and deep palmar creases. One of them additionally showed gingival hypertrophy and epicanthus, the other one was macrocephalic at birth and at the age of 13 years and suffered from repeated swelling of the soft tissue. Array analysis excluded a 17q24.2-q24.3 microdeletion, which has been reported in patients with hypertrichosis terminalis with or without gingival hyperplasia. Sequencing of the mutational hotspots of the ABCC9 gene revealed two different de novo missense mutations in the two patients. Recently, identical mutations have been found recurrently in patients with Cantú syndrome. Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis.

Non-linear conversion between genetic and physical chromosomal distances.

UNLABELLED: A supervised nonlinear interpolation significantly improves the reliability of conversions from genetic distances to physical distances as compared with the linear ones. A webaccessible application was created that addresses this question with a graphical presentation that may be wrapped by local installations. MOTIVATION: Genetic linkage maps and radiation hybrid (RH) maps are based on the rate of uncoupling between linked genetic markers. These are usually measured in centiMorgan (cM) when uncoupling is originated by natural recombination or in centiRay (cR) for chromosomes that are irradiated artificially to separate the markers. Physical maps arise from genome-wide DNA sequencing and are measured in bp. This work was originally motivated as an extension of the software application Expressionview (Fischer et al., 2003), exploring its spectrum of appliance combining different mapping systems. The relationship between physical and genetic maps is known to be not always linear (Yu et al., 2001). The shift from the linear model seems to depend on local idiosyncrasies of the chromosomes and the kind of genetic map used. The present application addresses this problem for the first time. AVAILABILITY: http://qtl.pzr.uni-rostock.de/cartographer.php