Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.

Introduction: Genomic medicine has features that make it preference sensitive and amenable to model-based health economic evaluation. Preferences of patients, caregivers, and clinicians related to the uptake and delivery of genomic medicine technologies and services that are not captured in health state utility weights can affect the intervention's cost-effectiveness and budget impact. However, there is currently no established or agreed-on approach for integrating preference information into economic evaluations.

2024 Scholars' Research Symposium Abstract: Retrospective Cohort Study of Pediatric COVID-19 in a Rural Integrated Health System.

Introduction: The spread of the SARS-CoV-2 virus, which caused Coronavirus Disease 2019 (COVID-19), led to a global pandemic and public health crisis, which affected the physical health and mental well-being of Americans in every part of the country. Although the effect of the pandemic was ubiquitous, it has been more extensively studied in urban areas, which leads to an underscoring of the burden of COVID-19 in rural US. Health disparities adversely affect children in rural communities, each of which is unique and requires interventions based on regional needs.

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.

Most genetic risk variants linked to ocular diseases are non-protein coding and presumably contribute to disease through dysregulation of gene expression, however, deeper understanding of their mechanisms of action has been impeded by an incomplete annotation of the transcriptional regulatory elements across different retinal cell types. To address this knowledge gap, we carried out single-cell multiomics assays to investigate gene expression, chromatin accessibility, DNA methylome and 3D chromatin architecture in human retina, macula, and retinal pigment epithelium (RPE)/choroid. We identified 420,824 unique candidate regulatory elements and characterized their chromatin states in 23 sub-classes of retinal cells.

Multi-modal analysis of human hepatic stellate cells identifies novel therapeutic targets for metabolic dysfunction-associated steatotic liver disease.

Background & Aims: Metabolic dysfunction-associated steatotic liver disease ranges from metabolic dysfunction-associated steatotic liver (MASL) to metabolic dysfunction-associated steatohepatitis (MASH) with fibrosis. Transdifferentiation of hepatic stellate cells (HSCs) into fibrogenic myofibroblasts plays a critical role in the pathogenesis of MASH liver fibrosis. We compared transcriptome and chromatin accessibility of human HSCs from NORMAL, MASL, and MASH livers at single-cell resolution.

Impact of the Astra Zeneca COVID-19 vaccine on an emergency department.

Objective: To assess the impact of the AstraZeneca (AZ) vaccine roll-out on an ED. Primary outcomes are ED length of stay (LOS), investigation ordering and costs. Secondary measures are compliance with the Thrombosis and Haemostasis Society of Australia and New Zealand (THANZ) Vaccine-Induced Thrombotic Thrombocytopaenia Syndrome (VITT) guidelines.

Triphallia: the first cadaveric description of internal penile triplication: a case report.

Introduction: Triphallia, a rare congenital anomaly describing the presence of three distinct penile shafts, has been reported only once in the literature. This case report, based on an extensive literature review, describes the serendipitous discovery during cadaveric dissection of the second reported human case of triphallia, distinctly morphologically different from the previous case.

Case Presentation: Despite the normal appearance of external genitalia on examination, the dissection of a 78-year-old white male revealed a remarkable anatomical variation: two small supernumerary penises stacked in a sagittal orientation posteroinferiorly to the primary penis.

Development and integration of a music therapy program in the neurologic inpatient setting: a qualitative study.

Purpose: Explore facilitators and barriers to development and integration of an inpatient music therapy (MT) program from the perspective of the patient, family member, and health care professional.

Materials And Methods: This qualitative study recruited patients on acute neurosciences/neurorehabilitation units having participated in the hospital MT program, their family, and members of their health care team. Semi-structured individual interviews and focus groups were conducted with 35 participants (14 patients, 5 family members, 16 health care professionals).

Experiences of women sexual assault survivors with police in the early aftermath of assault: Results from a large-scale prospective study.

Over 100,000 women present for emergency care after sexual assault (SA) annually in the United States. To our knowledge, no large prospective studies have assessed SA survivor experiences with police. Women SA survivors enrolled at 13 sites ( = 706), and 630 survivors reported on their police interactions.

Research with women sexual assault survivors presenting for emergency care is safe: Results from a multi-site, prospective observational cohort study.

A barrier to research with sexual assault survivors is the concern that research participation might be a negative experience for participants. We report the experiences with research of adult women sexual assault survivors participating in a large-scale, multi-site, prospective observational study that enrolled participants at the time of presentation for emergency care. Participants (n = 706, M = 28 years of age; 57% white, 15% Black) self-reported their experience with research 1 week, 6 weeks, 6 months, and 1 year post-assault.

Congenital CMV in the Neonate: A Primer.

Cytomegalovirus, one of the most common congenital viruses in neonates, is represented within the TORCH acronym, which signifies its ability to be transmitted vertically to the fetus during maternal infection. Despite advances in prenatal diagnostics, CMV is still the leading cause of congenital infection in neonates, with a 0.64% prevalence.

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Importance: Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.

Objective: To measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases.

Small cell lung carcinoma presenting initially with recurrent pneumothoraces: a case report.

Background: Pneumothorax is a non-physiological collection of air in the pleural space. Pneumothoraces can be broadly divided into Primary, Secondary, and Traumatic. Cancer of the lung is a known cause of secondary pneumothorax in both primary and metastatic lesions, however, pneumothorax as the presentation of lung cancer is exceedingly rare.

The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma.

Biological sex is an important risk factor in cancer, but the underlying cell types and mechanisms remain obscure. Since tumor development is regulated by the immune system, we hypothesize that sex-biased immune interactions underpin sex differences in cancer. The male-biased glioblastoma multiforme (GBM) is an aggressive and treatment-refractory tumor in urgent need of more innovative approaches, such as considering sex differences, to improve outcomes.

Impact of neighborhood disadvantage on posttrauma outcomes after sexual assault.

In the United States, 8,000,000 people seek emergency care for traumatic injury annually. Motor vehicle collisions (MVCs) and sexual assault are two common sources of trauma, with evidence that reduced neighborhood-level socioeconomic characteristics increase posttraumatic pain and stress after an MVC. We evaluated whether neighborhood disadvantage was also associated with physical and mental posttrauma outcomes after sexual assault in a sample of adult women (N = 656) who presented for emergency care at facilities in the United States following sexual assault and were followed for 1 year.

Paving the path for implementation of clinical genomic sequencing globally: Are we ready?

Despite the emerging evidence in recent years, successful implementation of clinical genomic sequencing (CGS) remains limited and is challenged by a range of barriers. These include a lack of standardized practices, limited economic assessments for specific indications, limited meaningful patient engagement in health policy decision-making, and the associated costs and resource demand for implementation. Although CGS is gradually becoming more available and accessible worldwide, large variations and disparities remain, and reflections on the lessons learned for successful implementation are sparse.

Ultrastructural differences impact cilia shape and external exposure across cell classes in the visual cortex.

A primary cilium is a membrane-bound extension from the cell surface that contains receptors for perceiving and transmitting signals that modulate cell state and activity. Primary cilia in the brain are less accessible than cilia on cultured cells or epithelial tissues because in the brain they protrude into a deep, dense network of glial and neuronal processes. Here, we investigated cilia frequency, internal structure, shape, and position in large, high-resolution transmission electron microscopy volumes of mouse primary visual cortex.

The influence of economic policies on social environments and mental health.

Despite increased advocacy and investments in mental health systems globally, there has been limited progress in reducing mental disorder prevalence. In this paper, we argue that meaningful advancements in population mental health necessitate addressing the fundamental sources of shared distress. Using a systems perspective, economic structures and policies are identified as the potential cause of causes of mental ill-health.

Development of a brief bedside tool to screen women sexual assault survivors for risk of persistent posttraumatic stress six months after sexual assault.

This study aims to develop and validate a brief bedside tool to screen women survivors presenting for emergency care following sexual assault for risk of persistent elevated posttraumatic stress symptoms (PTSS) six months after assault. Participants were 547 cisgender women sexual assault survivors who presented to one of 13 sexual assault nurse examiner (SANE) programs for medical care within 72 h of a sexual assault and completed surveys one week and six months after the assault. Data on 222 potential predictors from the SANE visit and the week one survey spanning seven broadly-defined risk factor domains were candidates for inclusion in the screening tool.

Algorithmic Identification of Treatment-Emergent Adverse Events From Clinical Notes Using Large Language Models: A Pilot Study in Inflammatory Bowel Disease.

Outpatient clinical notes are a rich source of information regarding drug safety. However, data in these notes are currently underutilized for pharmacovigilance due to methodological limitations in text mining. Large language models (LLMs) like Bidirectional Encoder Representations from Transformers (BERT) have shown progress in a range of natural language processing tasks but have not yet been evaluated on adverse event (AE) detection.