ALMA observations of the "fresh" carbon-rich AGB star TX Piscium. The discovery of an elliptical detached shell

Aims. The carbon-rich asymptotic giant branch (AGB) star TX Piscium (TX Psc) has been observed multiple times during multiple epochs and at different wavelengths and resolutions, showing a complex molecular CO line profile and a ring-like structure in thermal dust emission. We investigate the molecular counterpart in high resolution, aiming to resolve the ring-like structure and identify its origin. Methods. Atacama Large Millimeter/submillimeter Array (ALMA) observations have been carried out to map the circumstellar envelope (CSE) of TX Psc in CO(2-1) emission and investigate the counterpart to the ring-like dust structure. Results. We report the detection of a thin, irregular, and elliptical detached molecular shell around TX Psc, which coincides with the dust emission. This is the first discovery of a non-spherically symmetric detached shell, raising questions about the shaping of detached shells. Conclusions. We investigate possible shaping mechanisms for elliptical detached shells and find that in the case of TX Psc, stellar rotation of 2 km/s can lead to a non-uniform mass-loss rate and velocity distribution from stellar pole to equator, recreating the elliptical CSE. We discuss the possible scenarios for increased stellar momentum, enabling the rotation rates needed to reproduce the ellipticity of our observations, and come to the conclusion that momentum transfer of an orbiting object with the mass of a brown dwarf would be sufficient

Therapie des Sommerekzems mit Insol® Dermatophyton – eine Feldstudie

The main purpose of this experiment was to test the effect of Insol® Dermatophyton (ID) by employing a placebo controlled blind study, testing 51 horses suffering from summer eczema. The animals were vaccinated three times every two weeks in February of the year, in which the experiment took place, using ID (n=27) or placebo (n=24). Furthermore, the testing encompassed showing whether immunomodulatory effects could be detected when having used ID. For this purpose, each time the horses were tested –5 times in total– blood serum samples were taken to evaluate specific cytokines (IL-1, IL-4, IL-10, IFNγ, TNFα). Changes of the clinical findings (alteration of skin, itching) were assessed by a score especially developed for this purpose, before, during and after the insect period of the respective testing year. Following the generally well-known predilection sites, 12 body regions were specified, each of which was analysed for five symptoms (hair breakage, alopecia, bloody/purulent skin alteration, skin thickening, dandruff) and rated using points between 0 (not apparent) and 5 (severe). By adding and evaluating these points, for each animal and each time-point, the clinical intensity of the summer eczema could be quantified. After having used ID in a therapeutic or prophylactic placebo controlled blind study, it could not be established that there was a significantly positive effect on the clinical findings of skin affected by summer eczema. However, a positive trend could be observed in that the ID vaccinated animals in summer had a lower score than the ones which had been treated with a placebo. The score, nevertheless, was not statistically significant. This trend, however, could be confirmed by an owner-survey comparing the year of treatment with the year before. On this occasion the owners of the verum group evaluated the clinical appearance of the symptoms as significantly improved in the year of treatment compared with the year before. This effect could not be seen in the placebo group. Furthermore, the “young eczema” horses treated with ID (with symptoms of 2 years maximum) had a respectively lower score than the “old eczema horses” each time they were examined. Concerning the cytokines, an immunomodulatory effect resulting from the therapy could be verified. For instance, the concentrations of IL-10, TNFα, and IFNγ in the verum group rose considerably and what is also statistically significant, they rose after the vaccination, too. This is to be interpreted as an immunomodulatory shift from Th2 (allergy) to Th1 (tolerance). However, this effect could only be shown in-vitro. Further studies will have to evaluate, if the immunomodulatory effect can be intensified by changing of the ID formula, hence allowing statistical evidence in-vivo

Therapie des Sommerekzems mit Insol® Dermatophyton – eine Feldstudie

The main purpose of this experiment was to test the effect of Insol® Dermatophyton (ID) by employing a placebo controlled blind study, testing 51 horses suffering from summer eczema. The animals were vaccinated three times every two weeks in February of the year, in which the experiment took place, using ID (n=27) or placebo (n=24). Furthermore, the testing encompassed showing whether immunomodulatory effects could be detected when having used ID. For this purpose, each time the horses were tested –5 times in total– blood serum samples were taken to evaluate specific cytokines (IL-1, IL-4, IL-10, IFNγ, TNFα). Changes of the clinical findings (alteration of skin, itching) were assessed by a score especially developed for this purpose, before, during and after the insect period of the respective testing year. Following the generally well-known predilection sites, 12 body regions were specified, each of which was analysed for five symptoms (hair breakage, alopecia, bloody/purulent skin alteration, skin thickening, dandruff) and rated using points between 0 (not apparent) and 5 (severe). By adding and evaluating these points, for each animal and each time-point, the clinical intensity of the summer eczema could be quantified. After having used ID in a therapeutic or prophylactic placebo controlled blind study, it could not be established that there was a significantly positive effect on the clinical findings of skin affected by summer eczema. However, a positive trend could be observed in that the ID vaccinated animals in summer had a lower score than the ones which had been treated with a placebo. The score, nevertheless, was not statistically significant. This trend, however, could be confirmed by an owner-survey comparing the year of treatment with the year before. On this occasion the owners of the verum group evaluated the clinical appearance of the symptoms as significantly improved in the year of treatment compared with the year before. This effect could not be seen in the placebo group. Furthermore, the “young eczema” horses treated with ID (with symptoms of 2 years maximum) had a respectively lower score than the “old eczema horses” each time they were examined. Concerning the cytokines, an immunomodulatory effect resulting from the therapy could be verified. For instance, the concentrations of IL-10, TNFα, and IFNγ in the verum group rose considerably and what is also statistically significant, they rose after the vaccination, too. This is to be interpreted as an immunomodulatory shift from Th2 (allergy) to Th1 (tolerance). However, this effect could only be shown in-vitro. Further studies will have to evaluate, if the immunomodulatory effect can be intensified by changing of the ID formula, hence allowing statistical evidence in-vivo

Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek.

Non-inflammatory alopecia is a frequent skin problem in dogs, causing damaged coat integrity and compromised appearance of affected individuals. In this study, we examined the Cesky Fousek breed, which displays atypical recurrent flank alopecia (aRFA) at a high frequency. This type of alopecia can be quite severe and is characterized by seasonal episodes of well demarcated alopecic areas without hyperpigmentation. The genetic component responsible for aRFA remains unknown. Thus, here we aimed to identify variants involved in aRFA using a combination of histological, genomic, and transcriptomic data. We showed that aRFA is histologically similar to recurrent flank alopecia, characterized by a lack of anagen hair follicles and the presence of severely shortened telogen or kenogen hair follicles. We performed a genome-wide association study (GWAS) using 216 dogs phenotyped for aRFA and identified associations on chromosomes 19, 8, 30, 36, and 21, highlighting 144 candidate genes, which suggests a polygenic basis for aRFA. By comparing the skin cell transcription pattern of six aRFA and five control dogs, we identified 236 strongly differentially expressed genes (DEGs). We showed that the GWAS genes associated with aRFA are often predicted to interact with DEGs, suggesting their joint contribution to the development of the disease. Together, these genes affect four major metabolic pathways connected to aRFA: collagen formation, muscle structure/contraction, lipid metabolism, and the immune system

Molecular line study of the S-type AGB star W Aquilae. ALMA observations of CS, SiS, SiO and HCN

Context. With the outstanding spatial resolution and sensitivity of the Atacama Large Millimeter/sub-millimeter Array (ALMA), molecular gas other than the abundant CO can be observed and resolved in circumstellar envelopes (CSEs) around evolved stars, such as the binary S-type Asymptotic Giant Branch (AGB) star W Aquilae. Aims. We aim to constrain the chemical composition of the CSE and determine the radial abundance distribution, the photospheric peak abundance, and isotopic ratios of a selection of chemically important molecular species in the innermost CSE of W Aql. The derived parameters are put into the context of the chemical evolution of AGB stars and are compared with theoretical models. Methods. We employ one-dimensional radiative transfer modeling - with the accelerated lambda iteration (ALI) radiative transfer code - of the radial abundance distribution of a total of five molecular species (CS, SiS, 30SiS, 29SiO and H13CN) and determine the best fitting model parameters based on high-resolution ALMA observations as well as archival single-dish observations. The additional advantage of the spatially resolved ALMA observations is that we can directly constrain the radial profile of the observed line transitions from the observations. Results. We derive abundances and e-folding radii for CS, SiS, 30SiS, 29SiO and H13CN and compare them to previous studies, which are based only on unresolved single-dish spectra. Our results are in line with previous results and are more accurate due to resolution of the emission regions

A second KRT71 allele in curly coated dogs.

Major characteristics of coat variation in dogs can be explained by variants in only a few genes. Until now, only one missense variant in the KRT71 gene, p.Arg151Trp, has been reported to cause curly hair in dogs. However, this variant does not explain the curly coat in all breeds as the mutant Trp allele, for example, is absent in Curly Coated Retrievers. We sequenced the genome of a Curly Coated Retriever at 22× coverage and searched for variants in the KRT71 gene. Only one protein-changing variant was present in a homozygous state in the Curly Coated Retriever and absent or present in a heterozygous state in 221 control dogs from different dog breeds. This variant, NM_001197029.1:c.1266_1273delinsACA, was an indel variant in exon 7 that caused a frameshift and an altered and probably extended C-terminus of the KRT71 protein NP_001183958.1:p.(Ser422ArgfsTer?). Using Sanger sequencing, we found that the variant was fixed in a cohort of 125 Curly Coated Retrievers and segregating in five of 14 additionally tested breeds with a curly or wavy coat. KRT71 variants cause curly hair in humans, mice, rats, cats and dogs. Specific KRT71 variants were further shown to cause alopecia. Based on this knowledge from other species and the predicted molecular consequence of the newly identified canine KRT71 variant, it is a compelling candidate causing a second curly hair allele in dogs. It might cause a slightly different coat phenotype than the previously published p.Arg151Trp variant and could potentially be associated with follicular dysplasia in dogs

Voting for Direct Democracy: Evidence from a Unique Popular Initiative in Bavaria

We analyze a constitutional change in the German State of Bavaria where citizens, not politicians, granted themselves more say in politics at the local level through a constitutional initiative at the state level. This institutional setting allows us to focus on revealed preferences for direct democracy and to identify factors which explain this preference. Empirical results suggests support for direct democracy is rather related to dissatisfaction with representative democracy in general than with an elected governing party

The phenotype of floating-harbor syndrome:clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background\ud Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.\ud \ud Methods and results\ud Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations.\ud \ud Conclusions\ud This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.The authors would like to thank the families for their cooperation and permission to publish these findings. SdM would like to thank Barto Otten. Funding was provided by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Québec and Genome British Columbia, and the Manton Center for Orphan Disease Research at Children’s Hospital Boston. KMB is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. AD is supported by NIH grant K23HD073351. BBAdV and HGB were financially supported by the AnEUploidy project (LSHG-CT-2006-37627). This work was selected for study by the FORGE Canada Steering Committee, which consists of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), F. Bernier (University of Calgary), M. Brudno (University of Toronto), B. Fernandez (Memorial University), B. Knoppers (McGill University), M. Samuels (Université de Montréal), and S. Scherer (University of Toronto). We thank the Galliera Genetic Bank - “Telethon Genetic Biobank Network” supported by Italian Telethon grants (project no. GTB07001) for providing us with specimens

Personality profiles of cultures: aggregate personality traits

Personality profiles of cultures can be operationalized as the mean trait levels of culture members. College students from 51 cultures rated an individual from their country whom they knew well (N = 12, 156). Aggregate scores on Revised NEO Personality Inventory scales generalized across age and gender groups, approximated the individual-level Five-Factor Model, and correlated with aggregate self-report personality scores and other culture-level variables. Results were not attributable to national differences in economic development or to acquiescence. Geographical differences in scale variances and mean levels were replicated, with Europeans and Americans generally scoring higher in Extraversion than Asians and Africans. Findings support the rough scalar equivalence of NEO-PI-R factors and facets across cultures, and suggest that aggregate personality profiles provide insight into cultural differences

The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from