Genomic enhancer elements regulate gene expression programs important for neuronal fate and function and are implicated in brain disease states. Enhancers undergo bidirectional transcription to generate non-coding enhancer RNAs (eRNAs). However, eRNA function remains controversial. Here, we combined Assay for Transposase-Accessible Chromatin using Sequencing (ATAC-Seq) and RNA-Seq datasets from three distinct neuronal culture systems in two activity states, enabling genome-wide enhancer identification and prediction of putative enhancer-gene pairs based on correlation of transcriptional output. Notably, stimulus-dependent enhancer transcription preceded mRNA induction, and CRISPR-based activation of eRNA synthesis increased mRNA at paired genes, functionally validating enhancer-gene predictions. Focusing on enhancers surrounding the Fos gene, we report that targeted eRNA manipulation bidirectionally modulates Fos mRNA, and that Fos eRNAs directly interact with the histone acetyltransferase domain of the enhancer-linked transcriptional co-activator CREB-binding protein (CBP). Together, these results highlight the unique role of eRNAs in neuronal gene regulation and demonstrate that eRNAs can be used to identify putative target genes.The field of literature based discovery is growing in step with the volume of literature being produced. From modern natural language processing algorithms to high quality entity tagging, the methods and their impact are developing rapidly. One annotation object that arises from these approaches, the subject-predicate-object triple, is proving to be very useful in representing knowledge. We have implemented efficient search methods and an application programming interface (API), to create fast and convenient functions to utilize triples extracted from the biomedical literature by SemMedDB. By refining these data we have identified a set of triples that focus on the mechanistic aspects of the literature, and provide simple methods to explore both enriched triples from single queries, and overlapping triples across two query lists.

Supplementary data are available at Bioinformatics online.

Supplementary data are available at Bioinformatics online.

Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)?

Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort.

Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS.

A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019.

In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. SY-5609 manufacturer A FISH analysis on a buccal smear was performed.

Thea, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care.

No specific funding was sought for the study. The authors declare no competing interests.

N/A.

N/A.Pruritus is a commonly reported symptom after burn injury. Valid and reliable scales to measure itch in pediatric burn survivors is important for treatment and epidemiological studies. This study sought to develop psychometrically sound, publicly available self- and proxy-report measures of itch for use in pediatric burn survivors suitable for use in research and clinical practice. A panel of burn experts developed a definition of itch interference and a set of parallel self- and proxy-report candidate item that covered important activities affected by itch. Candidate items were evaluated in cognitive interviews with pediatric burn survivors (n=4) and proxies (n=2). Items were translated to Spanish and administered in both English and Spanish to a sample (N=264) of pediatric burn survivors and/or their proxy enrolled in the Burn Model System (BMS) longitudinal database. The mean age of the pediatric sample was 13 years and average time since burn 5 years. The final itch interference measures each included 5 parallel items calibrated using a one parameter graded response item response theory model, with a mean of 50 representing the average itch interference of the sample. Reliability of the scores is excellent between the mean and two standard deviations above. Initial analyses provide support for validity of the score. Concordance between the self- and proxy-report scores was moderate (ICC=0.68). The results support the reliability and validity of the itch scale in children and youth with burn injury. The new BMS Pediatric Itch Interference scales are freely and publicly available at https//burndata.washington.edu/itch.

Low socioeconomic position (SEP) is related to higher healthcare use in out-of-hours primary care services (OPCSs). We aimed to determine whether inequalities persist when taking the generally poorer health status of socioeconomically vulnerable individuals into account. To put OPCS use in perspective, this was compared with healthcare use in daytime general practice (DGP).

Electronic health record (EHR) data of 988040 patients in 2017 (251 DGPs, 27 OPCSs) from Nivel Primary Care Database were linked to socio-demographic data (Statistics, The Netherlands). We analyzed associations of OPCS and DGP use with SEP (operationalized as patient household income) using multilevel logistic regression. We controlled for demographic characteristics and the presence of chronic diseases. We additionally stratified for chronic disease groups.

An income gradient was observed for OPCS use, with higher probabilities within each lower income group [lowest income, reference highest income group odds ratio (OR) = 1.48, 95% confidence interval (CI) 1.