381 research outputs found
Zum Reformationsjubiläum: Luthers Septembertestament (1522) im DTA
No full textAutorInnen: Susanne Haaf, Axel Herold, Kay-Michael Würzner, Christian Thomas Worum geht es? Anlässlich des 500jährigen Jubiläums des Thesenanschlags Luthers und der Ereignisse, die in dessen Folge zur Reformationsbewegung und zur Bildung der evangelischen Konfession führten, wurde das Deutsche Textarchiv (DTA) um die Erstausgabe von Luthers sogenanntem „Septembertestament“ von 1522 ergänzt. Nach einem kurzen Abriss zum Kontext der Entstehung von Luthers Übersetzung des Neuen Testaments beschr..
In Vitro Fertilization Technology and Child Health.
No full textBACKGROUND
Just under 3% of children in Germany, and approximately 6% of children in some other countries, such as Denmark, are now being conceived with the aid of in vitro fertilization (IVF) technology. Alongside the increased risk of organ malformation, there is now evidence for functional abnormalities due to epigenetic modifications.
METHODS
This review is based on pertinent publications retrieved by a literature search on currently known associations of IVF therapy with malformations and functional abnormalities. The potential implications for the treatment of infertility are discussed.
RESULTS
The risk of congenital malformations is approximately one-third higher in children conceived with the aid of IVF technology than in other children; specifically, there is an odds ratio (OR) of 1.29 (95% confidence interval, [1.03; 1.60]) for cardiac malformations, and there is a relative risk (RR) of 1.35 ([1.12; 1.64]) for musculo- skeletal malformations and 1.58 ([1.28; 1.94]) for genitourinary malformations. The risks of preterm birth and low birth weight are, respectively, 1.7 and 1.5 times higher in IVF singleton pregnancies than in non-IVF pregnancies. Cardiovascular changes are the main type of functional disturbance. Some of the risks associated with IVF have decreased in recent years. An association has been revealed between cardiovascular abnormalities and epigenetic modifications; the causes are thought to include not only maternal and paternal factors, but also the IVF techniques that are used. A modification of IVF therapies might lower the risks, but might also lower the success rate.
CONCLUSION
For the well-being of the children to be conceived, IVF therapy should hat cannot be treated by any other means, as the precise causes of the risks of IVF to child health are unclear
Age-related and species-specific methylation changes in the protein-coding marmoset sperm epigenome
No full textThe sperm epigenome is thought to affect the developmental programming of the resulting embryo, influencing health and disease in later life. Age-related methylation changes in the sperm of old fathers may mediate the increased risks for reproductive and offspring medical problems. The impact of paternal age on sperm methylation has been extensively studied in humans and, to a lesser extent, in rodents and cattle. Here, we performed a comparative analysis of paternal age effects on protein-coding genes in the human and marmoset sperm methylomes. The marmoset has gained growing importance as a non-human primate model of aging and age-related diseases. Using reduced representation bisulfite sequencing, we identified age-related differentially methylated transcription start site (ageTSS) regions in 204 marmoset and 27 human genes. The direction of methylation changes was the opposite, increasing with age in marmosets and decreasing in humans. None of the identified ageTSS was differentially methylated in both species. Although the average methylation levels of all TSS regions were highly correlated between marmosets and humans, with the majority of TSS being hypomethylated in sperm, more than 300 protein-coding genes were endowed with species-specifically (hypo)methylated TSS. Several genes of the glycosphingolipid (GSL) biosynthesis pathway, which plays a role in embryonic stem cell differentiation and regulation of development, were hypomethylated (<5%) in human and fully methylated (>95%) in marmoset sperm. The expression levels and patterns of defined sets of GSL genes differed considerably between human and marmoset pre-implantation embryo stages and blastocyst tissues, respectively
Audiological assessment and management in the era of precision medicine
No full textHearing loss (HL) is the most common sensory deficit in childhood. Infant hearing screening is becoming widespread, and effective early intervention leads to an improved outcome. Genetic causes account for 50-60% of HL in childhood. Genetic screening has the potential to identify individuals who pass the infant hearing screen but are at risk from late-onset/progressive HL. Otitis media (OM) is the most frequently diagnosed disease in childhood, but the majority of genes underlying OM susceptibility have yet to be identified. A number of genetic conditions, both syndromic and nonsyndromic, are associated with progressive HL, necessitating regular audiological assessment. At the other end of the lifespan, age-related hearing loss (ARHL) is a major disease burden. It is a complex disorder with environmental and genetic contributions. Despite a genetic contribution of 56-70%, genetic research into ARHL is relatively untapped. The effectiveness of adult hearing screening has not been established although simple internet-based speech-in-noise hearing tests could be readily implemented for large-scale screening. Hearing instruments are the primary treatment for permanent HL. It is likely that a precise genetic diagnosis, perhaps identifying the anatomical location of the HL, will increase personalisation of treatment and improve treatment outcome
Deutsches Textarchiv (DTA)
No full textBBAW – Deutsches Textarchiv (DTA) und CLARIN-D
Matthias Boenig, Alexander Geyken, Jörg Fischer, Susanne Haaf, Bryan Jurish, Christian Thomas, Frank Wiegand, Kai Zimmer
– Berlin-Brandenburgische Akademie der Wissenschaften (BBAW) –
Das von der Deutschen Forschungsgemeinschaft (DFG) im Zeitraum 2007–2016 geförderte Projekt Deutsches Textarchiv (DTA, www.deutschestextarchiv.de) der Berlin-Brandenburgischen Akademie der Wissenschaften (BBAW) stellt einen disziplinenübergreifenden Kernbestand deutschsprachiger Texte aus dem Zeitraum von ca. 1600 bis ca. 1900 bereit. Mit Stand vom Oktober 2017 sind mehr als 4000 historische Textdokumente im DTA verfügbar, die in Übereinstimmung mit der Open-Access-Politik der BBAW unter einer Creative-Commons-Lizenz bereitgestellt werden.
Sämtliche Texte des DTA-Korpus sind entsprechend den Empfehlungen der Text Encoding Initiative (TEI) annotiert, um deren plattformunabhängige und interoperable Nutzbarkeit sicherzustellen. Darüber hinaus erfolgt eine automatisierte linguistische Analyse des Textmaterials, einschließlich der Tokenisierung, Lemmatisierung, Wortartenbestimmung (POS-Tagging) und der orthographischen Normierung historischer Schreibweisen. Das DTA-Korpus ist somit für sprachgeschichtliche Untersuchungen, literaturwissenschaftliche, historische und soziologische Fragestellungen nutzbar.
Die Dokumente und Metadaten des DTA-Korpus werden parallel zu deren Veröffentlichung in die web- und zentrenbasierte Infrastruktur des vom Bundesministerium für Bildung und Forschung (BMBF) geförderten Projekts CLARIN-D (www.clarin-d.net) integriert. Innerhalb dieser Forschungsdateninfrastruktur für die Geistes- und Sozialwissenschaften findet die weitere Dissemination der Forschungsdaten statt und stehen zahlreiche Tools und Webservices für deren Nutzung und Analyse zur Verfügung. Über das zertifizierte CLARIN- Repositorium der BBAW (http://clarin.bbaw.de/) sind die Daten persistent adressierbar, werden regelmäßig versioniert sowie nachhaltig verfügbar gehalten
Increasing methylation of sperm rDNA and other repetitive elements in the aging male mammalian germline
No full textDeutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659Horizon 2020 Framework Programme http://dx.doi.org/10.13039/10001066
Molekular-zytogenetische Untersuchungen und Expressionsanalysen des Multiplen Myeloms
No full textDurch die Kombination von SKY-, Array-CGH-, und Expressionsnanalysen wurden ausgewählte MM-Zelllinien auf Aberrationen hin untersucht und diese genauer analysiert. 32 Myelom-Patienten wurden mittels Array-CGH-Analyse untersucht und aufgrund ihrer Aberrationen und der klinischen Daten durch eine anschließende Clusteranalyse in 4 Subgruppen unterteilt
Analyses of the extent of shared synteny and conserved gene orders between the genome of fugu rubripes and human 20q
No full text©2002 by Cold Spring Harbor Laboratory PressCosmid and BAC contig maps have been constructed across two Fugu genomic regions containing the orthologs of human genes mapping to human chromosome 20q. Contig gene contents have been assessed by sample sequencing and comparative database analyses. Contigs are centered around two Fugu topoisomerase1 (top1) genes that were initially identified by sequence similarity to human TOP1 (20q12). Two other genes (SNAI1 and KRML) mapping to human chromosome 20 are also duplicated in Fugu. The two contigs have been mapped to separate Fugu chromosomes. Our data indicate that these linkage groups result from the duplication of an ancestral chromosome segment containing at least 40 genes that now map to the long arm of human chromosome 20. Although there is considerable conservation of synteny, gene orders are not well conserved between Fugu and human, with only very short sections of two to three adjacent genes being maintained in both organisms. Comparative analyses have allowed this duplication event to be dated before the separation of Fugu and zebrafish. Our data (which are best explained by regional duplication, followed by substantial gene loss) support the hypothesis that there have been a large number of gene and regional duplications (and corresponding gene loss) in the fish lineage, possibly resulting from a single whole genome duplication event.Sarah F. Smith, Philip Snell, Frank Gruetzner, Anthony J. Bench, Thomas Haaf, Judith A. Metcalfe, Anthony R. Green and Greg Elga
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