Massively parallel jumping assay decodes retrotransposition activity.

The human genome contains millions of retrotransposons, several of which could become active due to somatic mutations having phenotypic consequences, including disease. However, it is not thoroughly understood how nucleotide changes in retrotransposons affect their jumping activity. Here, we developed a novel massively parallel jumping assay (MPJA) that can test the jumping potential of thousands of transposons .

Using ChatGPT-4 to Create Structured Medical Notes From Audio Recordings of Physician-Patient Encounters: Comparative Study.

Background: Medical documentation plays a crucial role in clinical practice, facilitating accurate patient management and communication among health care professionals. However, inaccuracies in medical notes can lead to miscommunication and diagnostic errors. Additionally, the demands of documentation contribute to physician burnout.

Informatics for One Health.

Objectives: To introduce the 2023 International Medical Informatics Association (IMIA) Yearbook by the editors.

Methods: The editorial provides an introduction and overview to the 2023 IMIA Yearbook where the special topic is "Informatics for One Health". The special topic, survey papers and some best papers are discussed.

A precision functional atlas of personalized network topography and probabilities.

Although the general location of functional neural networks is similar across individuals, there is vast person-to-person topographic variability. To capture this, we implemented precision brain mapping functional magnetic resonance imaging methods to establish an open-source, method-flexible set of precision functional network atlases-the Masonic Institute for the Developing Brain (MIDB) Precision Brain Atlas. This atlas is an evolving resource comprising 53,273 individual-specific network maps, from more than 9,900 individuals, across ages and cohorts, including the Adolescent Brain Cognitive Development study, the Developmental Human Connectome Project and others.

Improvements in lung function following vitamin C supplementation to pregnant smokers are associated with buccal DNA methylation at 5 years of age.

Background: We previously reported in the "Vitamin C to Decrease the Effects of Smoking in Pregnancy on Infant Lung Function" randomized clinical trial (RCT) that vitamin C (500 mg/day) supplementation to pregnant smokers is associated with improved respiratory outcomes that persist through 5 years of age. The objective of this study was to assess whether buccal cell DNA methylation (DNAm), as a surrogate for airway epithelium, is associated with vitamin C supplementation, improved lung function, and decreased occurrence of wheeze.

Methods: We conducted epigenome-wide association studies (EWAS) using Infinium MethylationEPIC arrays and buccal DNAm from 158 subjects (80 placebo; 78 vitamin C) with pulmonary function testing (PFT) performed at the 5-year visit.

"How Do I Prepare for This?" Patient Perspectives on Providers' Employment-related Support During Pregnancy.

Background: Health care providers can offer employment-related support to pregnant patients by providing information about occupational risks and benefits, discussing adjustments, and/or completing paperwork to help patients obtain accommodations or benefits, but little research has examined whether and how this support is provided.

Methods: We conducted interviews with 20 adults who had been employed while pregnant within the 5 years preceding data collection. Eligible participants had low incomes, were hourly wage earners, or were employed in service or retail occupations.

Rehabilitation Service Needs and Preferences among Veterans with Tinnitus: A Qualitative Study.

Tinnitus is prevalent among military Veterans, yet there is a gap between the demand and the provision of services for tinnitus rehabilitation services within the Veterans Health Administration (VHA). We sought to understand tinnitus rehabilitation service needs and preferences among Veterans with bothersome tinnitus who use Veterans Affairs (VA) services. We conducted semistructured telephone interviews in 2019 with Veterans diagnosed with tinnitus, who reported it as bothersome.

Randomized controlled trials of mind-body interventions for posttraumatic stress disorder: a systematic review.

Mind-body interventions (MBIs) include mindfulness-based interventions (MiBIs), meditation- and mantra-based interventions (MMIs), and movement-based interventions (MoBIs). These approaches have demonstrated preliminary efficacy in improving posttraumatic stress disorder (PTSD) symptoms. However, previous systematic reviews and meta-analyses have noted that this area of research is limited by inadequate comparator conditions, heterogeneity of measurement, and absence of objective outcome measures.

Cumulative Effects of Resting-State Connectivity Across All Brain Networks Significantly Correlate with Attention-Deficit Hyperactivity Disorder Symptoms.

Identification of replicable neuroimaging correlates of attention-deficit hyperactivity disorder (ADHD) has been hindered by small sample sizes, small effects, and heterogeneity of methods. Given evidence that ADHD is associated with alterations in widely distributed brain networks and the small effects of individual brain features, a whole-brain perspective focusing on cumulative effects is warranted. The use of large, multisite samples is crucial for improving reproducibility and clinical utility of brain-wide MRI association studies.

Screening for Speech and Language Delay and Disorders in Children 5 Years or Younger: Evidence Report and Systematic Review for the US Preventive Services Task Force.

Importance: Children with speech and language difficulties are at risk for learning and behavioral problems.

Objective: To review the evidence on screening for speech and language delay or disorders in children 5 years or younger to inform the US Preventive Services Task Force.

Data Sources: PubMed/MEDLINE, Cochrane Library, PsycInfo, ERIC, Linguistic and Language Behavior Abstracts (ProQuest), and trial registries through January 17, 2023; surveillance through November 24, 2023.

An Electronic Health Record Alert for Inpatient Coronavirus Disease 2019 Vaccinations Increases Vaccination Ordering and Uncovers Workflow Inefficiencies.

Background:  Despite mortality benefits, only 19.9% of U.S.

Hospital Policy Variation in Addressing Decisions to Withhold and Withdraw Life-Sustaining Treatment.

Background: Sociodemographic disparities in physician decisions to withhold and withdraw life-sustaining treatment exist. Little is known about the content of hospital policies that guide physicians involved in these decisions.

Research Question: What is the prevalence of US hospitals with policies that address withholding and withdrawing life-sustaining treatment; how do these policies approach ethically controversial scenarios; and how do these policies address sociodemographic disparities in decisions to withhold and withdraw life-sustaining treatment?

Study Design And Methods: This national cross-sectional survey assessed the content of hospital policies addressing decisions to withhold or withdraw life-sustaining treatment.

BMI and BPH correlate with urinary microbiome diversity and lower urinary tract symptoms in men.

Several studies have identified bacteria and other microbes in the bladder and lower urinary tract in the absence of infection. In women, the urinary microbiome has been associated with lower urinary tract symptoms (LUTS), however, similar studies have not been undertaken in large cohorts of men. Here we examine the urinary microbiome and its association with LUTS in a subset of 500 men aged 65 to 90 years from the Osteoporotic Fractures in Men (MrOS) study.

Respectful Maternity Care : A Systematic Review.

Background: Severe maternal morbidity and mortality are worse in the United States than in all similar countries, with the greatest effect on Black women. Emerging research suggests that disrespectful care during childbirth contributes to this problem.

Purpose: To conduct a systematic review on definitions and valid measurements of respectful maternity care (RMC), its effectiveness for improving maternal and infant health outcomes for those who are pregnant and postpartum, and strategies for implementation.

Segmentation of cellular ultrastructures on sparsely labeled 3D electron microscopy images using deep learning.

Focused ion beam-scanning electron microscopy (FIB-SEM) images can provide a detailed view of the cellular ultrastructure of tumor cells. A deeper understanding of their organization and interactions can shed light on cancer mechanisms and progression. However, the bottleneck in the analysis is the delineation of the cellular structures to enable quantitative measurements and analysis.

Efficient semi-supervised semantic segmentation of electron microscopy cancer images with sparse annotations.

Electron microscopy (EM) enables imaging at a resolution of nanometers and can shed light on how cancer evolves to develop resistance to therapy. Acquiring these images has become a routine task.However, analyzing them is now a bottleneck, as manual structure identification is very time-consuming and can take up to several months for a single sample.

A Pragmatic Method to Integrate Data From Preexisting Cohort Studies Using the Clinical Data Interchange Standards Consortium (CDISC) Study Data Tabulation Model: Case Study.

Background: In recent years, many researchers have focused on the use of legacy data, such as pooled analyses that collect and reanalyze data from multiple studies. However, the methodology for the integration of preexisting databases whose data were collected for different purposes has not been established. Previously, we developed a tool to efficiently generate Study Data Tabulation Model (SDTM) data from hypothetical clinical trial data using the Clinical Data Interchange Standards Consortium (CDISC) SDTM.

Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.

Objectives: Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa decarboxylase gene. Deficiency of the AADC enzyme results in combined severe reductions in monoamine neurotransmitters: dopamine, serotonin, epinephrine, and norepinephrine. This leads to widespread neurological complications affecting motor, behavioral, and autonomic function.

Guidance for reporting analyses of metadata on electronic health record use.

Introduction: Research on how people interact with electronic health records (EHRs) increasingly involves the analysis of metadata on EHR use. These metadata can be recorded unobtrusively and capture EHR use at a scale unattainable through direct observation or self-reports. However, there is substantial variation in how metadata on EHR use are recorded, analyzed and described, limiting understanding, replication, and synthesis across studies.

Characterizing and Comparing Evidence-Based Psychotherapy Utilization Among Veterans with Co-occurring PTSD and Substance Use Disorder.

: The current study sought to describe a nationally representative sample of Veterans diagnosed with co-occurring PTSD and substance use disorder (SUD) who initiated and completed evidence-based psychotherapy (EBP) for PTSD, and explored whether completion rates differed by SUD subtype. : Using electronic health record data from the Veterans Health Administration (VHA) Corporate Data Warehouse, Veterans with a dual diagnosis of PTSD and SUD who initiated either Cognitive Processing Therapy (CPT) or Prolonged Exposure (PE) between January 01, 2019 and July 16, 2019 were identified ( = 2,996). Logistic analyses were employed to determine whether there were differences in EBP completion rates among Veterans with an alcohol use disorder (AUD;  = 1,383) versus all other SUDs  = 1,613).