Project description:Lay abstractAutism is a condition comprised of difficulties in social and communication contexts, sensory sensitivities as well as restrictive and repetitive behaviours. Many theories have tried to explain all the symptoms and behaviours associated with autism. We focus on one recent theory - High, Inflexible Precision of Prediction Errors in Autism (HIPPEA). We aim to understand how much this theory fits the experiences of autistic individuals. We collected data through 21 online questionnaires and 8 follow-up interviews. One of our participants was a parent of an autistic child, and the remaining were adults who reported a diagnosis of autism. We analysed the data by thinking about how it fitted with what we already knew and by looking for new insights which came up. Our results suggest that autistic individuals can make generalisations but that this happens more slowly across both social and non-social areas. These generalisations are very reliant on detail - in computer terms, they are 'pixelated'. This is in line with what HIPPEA suggests. We also showed that autistic individuals can be motivated to explore and engage socially, something that needs more consideration within HIPPEA. Overall, this study shows that HIPPEA can explain many autistic experiences, but that further refinement is needed.

| S-EPMC10851622 | biostudies-literature

Complete genome sequence of the thermophilic sulfur-reducer Hippea maritima type strain (MH(2)).

Project description:Hippea maritima (Miroshnichenko et al. 1999) is the type species of the genus Hippea, which belongs to the family Desulfurellaceae within the class Deltaproteobacteria. The anaerobic, moderately thermophilic marine sulfur-reducer was first isolated from shallow-water hot vents in Matipur Harbor, Papua New Guinea. H. maritima was of interest for genome sequencing because of its isolated phylogenetic location, as a distant next neighbor of the genus Desulfurella. Strain MH(2) (T) is the first type strain from the order Desulfurellales with a completely sequenced genome. The 1,694,430 bp long linear genome with its 1,723 protein-coding and 57 RNA genes consists of one circular chromosome and is a part of the Genomic Encyclopedia of Bacteria and Archaea project.

| S-EPMC3156395 | biostudies-literature

Transcriptomic and epigenetic dissection of spinal ependymomas (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation [RNA-seq]

Project description:Background: Ependymomas encompass multiple, clinically relevant tumor types based on localization and molecular profiles. Although tumors of the methylation class “spinal ependymoma” (SP-EPN) represent the most common intramedullary neoplasms in children and adults, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations, but neither types and frequency of these alterations nor their clinical meaning have been described in a large, epigenetically defined series. Methods: We mapped SP-EPN transcriptomes (n=76) to developmental atlases of the developing and adult spinal cord to uncover potential developmental origins of these tumors. In addition, transcriptomic, epigenetic (n=234), genetic (n=140), and clinical analyses (n=115) were integrated for a detailed overview on this entity. Results: Integration of transcriptomic ependymoma data with single-cell atlases of the spinal cord identified mature adult ependymal cells to display highest similarities to SP-EPN. Unsupervised hierarchical clustering of tumor data together with integrated analysis of methylation profiles identified two molecular SP-EPN subtypes. Subtype 1 predominantly contained NF2 wild type sequences with regular NF2 expression but revealed more extensive copy number alterations. Subtype 2 harbored previously known germline or sporadic NF2 mutations and was NF2-deficient in most cases, more often showed multilocular disease, and demonstrated a significantly reduced progression-free survival. Conclusion: Based on integrated molecular profiling of a large tumor series we identify two distinct SP-EPN subtypes with important implications for genetic counseling, patient surveillance, and drug development priorities.

2024-01-26 | GSE242992 | GEO

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