Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs.

Transcription factors (TFs) regulate gene expression by facilitating or disrupting the formation of transcription initiation machinery at particular genomic loci. Because TF occupancy is driven in part by recognition of DNA sequence, genetic variation can influence TF-DNA associations and gene regulation. To identify variants that impact TF binding in human brain tissues, we assessed allele-specific binding (ASB) at heterozygous variants for 94 TFs in nine brain regions from two donors.

Seven-chain adaptive immune receptor repertoire analysis in rheumatoid arthritis reveals novel features associated with disease and clinically relevant phenotypes.

Background: In rheumatoid arthritis (RA), the activation of T and B cell clones specific for self-antigens leads to the chronic inflammation of the synovium. Here, we perform an in-depth quantitative analysis of the seven chains that comprise the adaptive immune receptor repertoire (AIRR) in RA.

Results: In comparison to controls, we show that RA patients have multiple and strong differences in the B cell receptor repertoire including reduced diversity as well as altered isotype, chain, and segment frequencies.

[Validiation of EPInfant scale in children: Estimation and production paradigms, using VO2 as reference criteria].

Unlabelled: The EPInfant scale was developed to quantify perceived exertion (PE) during exercise in children and adolescents.

Objective: to determine the criterion validity of the EPInfant scale in children in the estimation and production paradigm considering oxygen consumption (VO2) as the reference standard.

Subjects And Method: Twenty healthy boys, aged 9.

Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements.

Tauopathies are a group of neurodegenerative diseases defined by abnormal aggregates of tau, a microtubule-associated protein encoded by MAPT. MAPT expression is near absent in neural progenitor cells (NPCs) and increases during differentiation. This temporally dynamic expression pattern suggests that MAPT expression could be controlled by transcription factors and cis-regulatory elements specific to differentiated cell types.

Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.

Transcription Factors (TFs) influence gene expression by facilitating or disrupting the formation of transcription initiation machinery at particular genomic loci. Because genomic localization of TFs is in part driven by TF recognition of DNA sequence, variation in TF binding sites can disrupt TF-DNA associations and affect gene regulation. To identify variants that impact TF binding in human brain tissues, we quantified allele bias for 93 TFs analyzed with ChIP-seq experiments of multiple structural brain regions from two donors.

expression is mediated by long-range interactions with -regulatory elements.

Background: Tauopathies are a group of neurodegenerative diseases driven by abnormal aggregates of tau, a microtubule associated protein encoded by the gene. expression is absent in neural progenitor cells (NPCs) and increases during differentiation. This temporally dynamic expression pattern suggests that expression is controlled by transcription factors and cis-regulatory elements specific to differentiated cell types.

Psychometric Properties of the Arabic Version of the EPInfant Scale among Typically Developing Children Aged 6-16 Years.

Aims: The EPInfant scale is a self-assessment for children that measures perceived exertion (PE) during physical exercise. This study aimed to translate the scale into Arabic (EPInfant-Ar) and test its psychometric properties.

Methods: The revised version was tested for face and content validity.

Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific -regulatory elements.

Cell type-specific transcriptional differences between brain tissues from donors with Alzheimer's disease (AD) and unaffected controls have been well documented, but few studies have rigorously interrogated the regulatory mechanisms responsible for these alterations. We performed single nucleus multiomics (snRNA-seq plus snATAC-seq) on 105,332 nuclei isolated from cortical tissues from 7 AD and 8 unaffected donors to identify candidate -regulatory elements (CREs) involved in AD-associated transcriptional changes. We detected 319,861 significant correlations, or links, between gene expression and cell type-specific transposase accessible regions enriched for active CREs.

Availability and characteristics of pulmonary rehabilitation programs in family health centers and hospitals from Chile: Descriptive, retrospective and multicentric study.

Objective: To determine availability and characteristics of pulmonary rehabilitation programs performed in 2019 in family health centers and hospitals from Chile.

Methodology: A descriptive and retrospective study was designed, considering PR programs operated in 2019. A non-probability and convenience sample was obtained.

Inclusion in the university: Who assumes responsibility? A qualitative study.

Society challenges higher education institutions and their members to generate inclusive communities to enable the full development of all members. This study aims to analyze who is responsible for generating inclusion according to community members from a traditional Chilean University. We carried out qualitative research based on the Grounded Theory.

The cardiorespiratory response and physiological determinants of the 6-min handbike cycle test in healthy children: A cross-sectional study.

Introduction: The submaximal tests are used to measure aerobic capacity and correlate with activities of daily living in chronic patients. The 6-min handbike cycle test (6mhct) was created for nonambulatory subjects, but there are no reference values to quantify and classify the cardiorespiratory fitness of children in this condition.

Objective(s): Generate 6mhct reference values and determine predictive variables in a population of Chilean children between 8 and 13 years old.

Inclusion at universities: Psychometric properties of an inclusive management scale as perceived by students.

Introduction: During the last century, the inclusion of all kinds of diversity became a social imperative in all social spaces but above all in some institutions such as the educational ones. Among these, inclusion has been least studied in the tertiary education organizations. This communication proposes and evaluates the psychometric properties of a new instrument, named Inclusive Management in Tertiary Institutions Scale (IMTIS), to assess inclusive management in universities.

[Heart rate variability in children: methodological issues and clinical applications].

Heart rate variability (HRV) corresponds to variations in heart rate or beat-beat time interval. This parameter reflects the status of the autonomic mechanisms of cardiovascular control, which may be influenced by changes characteristic of the life cycle of people, sedentary lifestyle, and various disease processes that directly or indirectly generate changes in the HRV and shift the autonomic balance, either towards greater sympathetic or parasympathetic influence on the heart. These antecedents support the use of HRV indices for the diagnosis and monitoring of various nosological entities in adults.

Conceptual validation of an innovative remote pulmonary rehabilitation solution for Chronic Obstructive Pulmonary Disease.

Introduction: Chronic Obstructive Pulmonary Disease (COPD) is the third leading cause of death in the world. Pulmonary rehabilitation (PR) reduces COPD hospitalisations, although its use is low. Telerehabilitation is effective; however, in Chile the development of remote PR technology is incipient.

Targeting of the CD80/86 proinflammatory axis as a therapeutic strategy to prevent severe COVID-19.

An excessive immune response known as cytokine storm is the hallmark of severe COVID-19. The cause of this cytokine rampage is yet not known. Based on recent epidemiological evidence, we hypothesized that CD80/86 signaling is essential for this hyperinflammation, and that blocking this proinflammatory axis could be an effective therapeutic approach to protect against severe COVID-19.

Experience in a Pediatric Prolonged Mechanical Ventilation Unit from a public hospital in Chile.

Introduction: Hospitalized patients with high respiratory technology dependency are increasingly common and result in lengthy stays in intensive care units. Strategies mitigating its impact have been scarcely described.

Objective: To describe a 6-year experience in a Pediatric Prolonged Mechanical Ventilation Unit.