A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density.

Conflicting results have been reported on the association between restriction fragment length polymorphisms (RFLPs) at the vitamin D receptor (VDR) gene locus (i.e., for BsmI, ApaI, and TaqI) and bone mineral density (BMD). We analyzed this association in a large population-based sample (n = 1782) of men and women aged 55-80 years using a novel direct haplotyping polymerase chain reaction (PCR) test to monitor the three polymorphic sites simultaneously. The direct haplotyping test we developed demonstrated a larger degree of genetic polymorphism at the VDR gene locus than described until now. None of the individual RFLPs were associated with BMD at the proximal femur. By analyzing allele dose effects, we identified a VDR haplotype allele weakly associated with low BMD. This allele, as one representative of the group of b alleles, is different from the BsmI allele previously reported by other groups to be associated with low BMD. This suggests allelic heterogeneity at the VDR locus in relation to BMD. Our results indicate at most a small effect of the VDR genotype on BMD in this elderly population. Since anonymous polymorphisms were analyzed, alternative explanations for our results include linkage to another nearby bone-metabolism related gene

Dolls and puppet figures in narratives – themes and motifs in literature, art, theater, film, media, folklore and popular cultures

Die Onlineversion unterscheidet sich geringfügig gegenüber der Printausgabe. Auf Seite 88 wurde in der Printversion die falsche Übersetzung des Abstracts (Englisch) eingefügt. Dieser Fehler ist hier korrigiert. The online version differs slightly from the print edition. On page 88, the wrong translation of the abstract (English) was inserted in the print version. This error is corrected here.Dieses Themenheft behandelt die Vielfalt und das Potenzial von Puppennarrativen im weitesten Sinn und ihre universellen und/oder kulturspezifischen Formen, Spuren, Traditionen und Folkloren sowie das Spiel der jeweiligen Rezeptionsbezüge. Nachgespürt wird diesen Narrativen in einer Vielzahl von unterschiedlichen literarischen, künstlerischen, filmischen, (pop-)kulturellen und folkloristischen Bereichen sowie in pädagogisch relevanten Feldern. Eine eigens gestaltete kurze Graphic Novel hinterfragt darüber hinaus die Verknüpfung klassischer Puppentheater-Narrative mit zukunftsträchtigen KI-basierten Automatisierungsfantasien.This thematic issue deals with the diversity and potential of doll/puppet narratives in the broadest sense and with their universal and/or culture-specific forms, traces, traditions and folklore as well as with the interplay of the respective reception references. These narratives are traced in a variety of different literary, artistic, cinematic, (pop-)cultural and folkloristic genres as well as in pedagogically relevant fields. In addition, s specially designed short graphic novel questions the linking of classic puppet theater narratives with seminal AI-based automation fantasies

A major genetic locus in <i>Trypanosoma brucei</i> is a determinant of host pathology

The progression and variation of pathology during infections can be due to components from both host or pathogen, and/or the interaction between them. The influence of host genetic variation on disease pathology during infections with trypanosomes has been well studied in recent years, but the role of parasite genetic variation has not been extensively studied. We have shown that there is parasite strain-specific variation in the level of splenomegaly and hepatomegaly in infected mice and used a forward genetic approach to identify the parasite loci that determine this variation. This approach allowed us to dissect and identify the parasite loci that determine the complex phenotypes induced by infection. Using the available trypanosome genetic map, a major quantitative trait locus (QTL) was identified on T. brucei chromosome 3 (LOD = 7.2) that accounted for approximately two thirds of the variance observed in each of two correlated phenotypes, splenomegaly and hepatomegaly, in the infected mice (named &lt;i&gt;TbOrg1&lt;/i&gt;). In addition, a second locus was identified that contributed to splenomegaly, hepatomegaly and reticulocytosis (&lt;i&gt;TbOrg2&lt;/i&gt;). This is the first use of quantitative trait locus mapping in a diploid protozoan and shows that there are trypanosome genes that directly contribute to the progression of pathology during infections and, therefore, that parasite genetic variation can be a critical factor in disease outcome. The identification of parasite loci is a first step towards identifying the genes that are responsible for these important traits and shows the power of genetic analysis as a tool for dissecting complex quantitative phenotypic traits

How do parents access, appraise, and apply health information on early childhood allergy prevention? A focus group and interview study

BackgroundWhen parents want to make health-related decisions for their child, they need to be able to handle health information from a potentially endless range of sources. Early childhood allergy prevention (ECAP) is a good example: recommendations have shifted from allergen avoidance to early introduction of allergenic foods. We investigated how parents of children under 3 years old access, appraise and apply health information about ECAP, and their respective needs and preferences.MethodsWe conducted 23 focus groups and 24 interviews with 114 parents of children with varied risk for allergies. The recruitment strategy and a topic guide were co-designed with the target group and professionals from public health, education, and medicine. Data were mostly collected via video calls, recorded and then transcribed verbatim. Content analysis according to Kuckartz was performed using MAXQDA and findings are presented as a descriptive overview.ResultsParents most frequently referred to family members, friends, and other parents as sources of ECAP information, as well as healthcare professionals (HCPs), particularly pediatricians. Parents said that they exchanged experiences and practices with their peers, while relying on HCPs for guidance on decision-making. When searching for information online, they infrequently recalled the sources used and were rarely aware of providers of “good” health information. While parents often reported trying to identify the authors of information to appraise its reliability, they said they did not undertake more comprehensive information quality checks. The choice and presentation of ECAP information was frequently criticized by all parent groups; in particular, parents of at-risk children or with a manifested allergy were often dissatisfied with HCP consultations, and hence did not straightforwardly apply advice. Though many trusted their HCPs, parents often reported taking preventive measures based on their own intuition.ConclusionOne suggestion to react upon the many criticisms expressed by parents regarding who and how provides ECAP information is to integrate central ECAP recommendations into regular child care counseling by HCPs—provided that feasible ways for doing so are identified. This would assist disease prevention, as parents without specific concerns are often unaware of the ECAP dimension of issues such as nutrition

Cryo-EM structure of a helicase loading intermediate containing ORC-Cdc6-Cdt1-MCM2-7 bound to DNA

In eukaryotes, the Cdt1-bound replicative helicase core MCM2-7 is loaded onto DNA by the ORC-Cdc6 ATPase to form a prereplicative complex (pre-RC) with an MCM2-7 double hexamer encircling DNA. Using purified components in the presence of ATP-γS, we have captured in vitro an intermediate in pre-RC assembly that contains a complex between the ORC-Cdc6 and Cdt1-MCM2-7 heteroheptamers called the OCCM. Cryo-EM studies of this 14-subunit complex reveal that the two separate heptameric complexes are engaged extensively, with the ORC-Cdc6 N-terminal AAA+ domains latching onto the C-terminal AAA+ motor domains of the MCM2-7 hexamer. The conformation of ORC-Cdc6 undergoes a concerted change into a right-handed spiral with helical symmetry that is identical to that of the DNA double helix. The resulting ORC-Cdc6 helicase loader shows a notable structural similarity to the replication factor C clamp loader, suggesting a conserved mechanism of action

Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021

The rate of SARS-CoV-2 infections in children remains unclear due to many asymptomatic cases. We present a study of cross-sectional seroprevalence surveys of anti-SARS-CoV-2 IgG in 10,358 children recruited in paediatric hospitals across Germany from June 2020 to May 2021. Seropositivity increased from 2.0% (95% CI 1.6, 2.5) to 10.8% (95% CI 8.7, 12.9) in March 2021 with little change up to May 2021. Rates increased by migrant background (2.8%, 4.4% and 7.8% for no, one and two parents born outside Germany). Children under three were initially 3.6 (95% CI 2.3, 5.7) times more likely to be seropositive with levels equalising later. The ratio of seropositive cases per recalled infection decreased from 8.6 to 2.8. Since seropositivity exceeds the rate of recalled infections considerably, serologic testing may provide a more valid estimate of infections, which is required to assess both the spread and the risk for severe outcomes of SARS-CoV-2 infections

Unravelling enzymatic discoloration in potato through a combined approach of candidate genes, QTL, and expression analysis

Enzymatic discoloration (ED) of potato tubers was investigated in an attempt to unravel the underlying genetic factors. Both enzyme and substrate concentration have been reported to influence the degree of discoloration and as such this trait can be regarded as polygenic. The diploid mapping population C × E, consisting of 249 individuals, was assayed for the degree of ED and levels of chlorogenic acid and tyrosine. Using this data, Quantitative Trait Locus (QTL) analysis was performed. Three QTLs for ED have been found on parental chromosomes C3, C8, E1, and E8. For chlorogenic acid a QTL has been identified on C2 and for tyrosine levels, a QTL has been detected on C8. None of the QTLs overlap, indicating the absence of genetic correlations between these components underlying ED, in contrast to earlier reports in literature. An obvious candidate gene for the QTL for ED on Chromosome 8 is polyphenol oxidase (PPO), which was previously mapped on chromosome 8. With gene-specific primers for PPO gene POT32 a CAPS marker was developed. Three different alleles (POT32-1, -2, and -3) could be discriminated. The segregating POT32 alleles were used to map the POT32 CAPS marker and QTL analysis was redone, showing that POT32 coincides with the QTL peak. A clear correlation between allele combinations and degree of discoloration was observed. In addition, analysis of POT32 gene expression in a subset of genotypes indicated a correlation between the level of gene expression and allele composition. On average, genotypes having two copies of allele 1 had both the highest degree of discoloration as well as the highest level of POT32 gene expression