Learning Health Systems (LHSs) promise meaningful health care improvement through the ongoing use of data, including the lived experience of diverse constituents, such as people participating in and providing services. Most LHSs operate within a specific healthcare system, typically hospital-based, under a common electronic health record (EHR) and management structure. The Early Psychosis Intervention Network in Texas (EPINET-TX) is a novel case study of a developing LHS across 16 independent community mental health clinics operating state-funded coordinated specialty care (CSC) programs for early psychosis.
View Article and Find Full Text PDFE3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease characterized by motor neuron loss in the motor cortex, brain stem, and spinal cord. Mutations in the superoxide dismutase 1 (SOD1) gene, resulting in misfolding of its protein product, are a common cause of ALS. Currently, there is no approved ALS diagnostic tool.
View Article and Find Full Text PDFBackground And Objectives: Culturally diverse informal caregivers of community-dwelling persons with dementia face challenges in accessing dementia care resources due to language barriers and cultural stigmas surrounding dementia. This study presents the perceived intervention experiences of a home-based approach which considers the cultural and linguistic needs of diverse family caregivers in dementia care. The intervention model includes home visits by trained bilingual, non-licensed community health workers (CHWs) whose cultural histories and understandings reflect that of the caregivers.
View Article and Find Full Text PDFConsiderable efforts have been devoted to addressing the problem of conflicts of interest (COI) in health research, policy, education, and practice. An overwhelming body of evidence demonstrates that conflicts associate with deleterious outcomes for the biomedical research enterprise. Nevertheless, little has changed for research, specifically, since the Institute of Medicine's landmark was published over a decade ago.
View Article and Find Full Text PDFFibronectin (FN) is an extracellular matrix glycoprotein essential for the development and function of major vertebrate organ systems. Mutations in FN result in an autosomal dominant skeletal dysplasia termed corner fracture-type spondylometaphyseal dysplasia (SMDCF). The precise pathomechanisms through which mutant FN induces impaired skeletal development remain elusive.
View Article and Find Full Text PDFBackground: An estimated 6.7 million persons are living with dementia in the United States, a number expected to double by 2060. Persons experiencing moderate to severe dementia are 4 to 5 times more likely to fall than those without dementia, due to agitation and unsteady gait.
View Article and Find Full Text PDFA new member of the zeolite-templated carbon (ZTC) family with unprecedented properties has been developed using extralarge-pore zeolite ZEO-1 (JZO) as a template. The resulting ZTC-JZO exhibits strong X-ray diffraction long-range order, replicating three distinct zeolite planes with different lattice spacings. By harnessing the enhanced micropore void volume in the ZEO-1 template, we achieved the first ZTC with a bimodal micropore size distribution, resulting in superior skeleton density and thickness.
View Article and Find Full Text PDFThe in situ confinement of nickel (Ni)-iron (Fe) nanoparticles (NPs) in a polymer-derived microporous silicon carboxynitride (Si-C-O-N)-based support is investigated to stimulate superior oxygen evolution reaction (OER) activity in an alkaline media. Firstly, we consider a commercial polysilazane (PSZ) and Ni and Fe chlorides to be mixed in N,N-dimethylformamide (DMF) and deliver after overnight solvent reflux a series of Ni-Fe : organosilicon coordination polymers. The latter are then heat-treated at 500 °C in flowing argon to form the title compounds.
View Article and Find Full Text PDFJ Obstet Gynecol Neonatal Nurs
November 2024
Objective: To describe how a college of nursing and urban academic medical center partnered with the local health department to plan, implement, and evaluate a universal nurse home visit service to improve health equity in the postpartum period.
Design: Evidence-based practice.
Setting/local Problem: Wide health disparity in rates of maternal and infant morbidity and mortality in Chicago, Illinois.
Context: Primary hyperparathyroidism (PHPT) increases the risk of bone loss, debilitating fractures, kidney stones, impaired renal function, and neurocognitive symptoms. Studies describing the natural history of PHPT have been limited to small samples, single institutions, or specific populations.
Objective: We assessed the natural history of PHPT through a large, diverse national cohort from an electronic health record dataset representing more than 100 million patients.
Objectives: To identify circulating micro-RNAs differentially expressed in patients with erosive hand osteoarthritis (HOA) compared to patients with non-erosive HOA and patients without HOA.
Methods: In the screening phase, 768 well-characterized micro-RNAs using Taqman low-density array cards were measured in 30 sera from 10 patients with erosive HOA, 10 patients with non-erosive HOA, and 10 controls without HOA, matched for age and body mass index (BMI). In a second step, we validated the micro-RNAs identified at the screening phase (adjusted p value < 0.
Prime editing shows potential as a precision genome editing technology, as well as the potential to advance the development of next-generation nanomedicine for addressing neurological disorders. However, turning in prime editors (PEs), which are macromolecular complexes composed of CRISPR/Cas9 nickase fused with a reverse transcriptase and a prime editing guide RNA (pegRNA), to the brain remains a considerable challenge due to physiological obstacles, including the blood-brain barrier (BBB). This review article offers an up-to-date overview and perspective on the latest technologies and strategies for the precision delivery of PEs to the brain and passage through blood barriers.
View Article and Find Full Text PDFBackground: Large language models (LLMs) have the potential to support promising new applications in health informatics. However, practical data on sample size considerations for fine-tuning LLMs to perform specific tasks in biomedical and health policy contexts are lacking.
Objective: This study aims to evaluate sample size and sample selection techniques for fine-tuning LLMs to support improved named entity recognition (NER) for a custom data set of conflicts of interest disclosure statements.
Objective: Show a prognostic value of brain changes in fetuses with intra uterine growth restriction (IUGR) on early neonatal outcome.
Study Design: We prospectively recruited pregnant women whose fetuses presented fetal weight < 5th centile. A brain MRI was performed between 28 and 32 weeks of gestation (WG).
Background: The COVID-19 pandemic transformed healthcare delivery with the rapid adoption of telehealth and digital technologies to access healthcare. Interventions are needed to ensure that older people in underserved communities do not face new technology-driven healthcare disparities. This article describes pioneering electronic medical record (EMR) embedded tools to assess and support each diverse patient's digital health literacy.
View Article and Find Full Text PDFDivergent conceptualization of posttraumatic stress disorder (PTSD) within the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) and International Statistical Classification of Diseases and Related Health Problems (11th ed..
View Article and Find Full Text PDFBackground: Dexamethasone was approved for use in hospitalized COVID-19 patients early in the pandemic based on the RECOVERY trial, but evidence is still needed to support its real-world effectiveness in heterogeneous populations of patients with a wide range of comorbidities.
Methods: COVID-19 inpatients represented within the National COVID Cohort Collaborative (N3C) Data Enclave, prior to vaccine availability, were studied. Primary outcome was in-hospital death; secondary outcome was combined in-hospital death and severe outcome defined by use of ECMO or mechanical ventilation.
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of two members (KCNB1 and KCNB2) encoded by KCNB1 and KCNB2, respectively. These channels are major contributors to delayed rectifier potassium currents arising from the neuronal soma which modulate overall excitability of neurons.
View Article and Find Full Text PDFObjective: To identify a microRNA signature associated to sarcopenia in community-dwelling older adults form the SarcoPhAge cohort.
Methods: In a screening phase by next generation sequencing (NGS), we compared the hsa-miRome expression of 18 subjects with sarcopenia (79.6 ± 6.
This investigation, conducted within the Texas Childhood Trauma Research Network, investigated the prospective relationships between resiliency and emergent internalizing symptoms among trauma-exposed youth. The cohort encompassed 1262 youth, aged 8-20, from twelve health-related institutions across Texas, who completed assessments at baseline and one- and six-month follow-ups for resiliency, symptoms of depression, generalized anxiety, posttraumatic stress disorder (PTSD), and other demographic and clinical characteristics. At baseline, greater resilience was positively associated with older age, male (vs female) sex assigned at birth, and history of mental health treatment.
View Article and Find Full Text PDFThe operating temperature of integrated magnetic components can be critical. Excessively high temperature can significantly modify the properties of components, especially those of magnetic material, such as saturation magnetization and magnetic permeability. This article introduces an experimental characterization method using two different sensors.
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