A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.

The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal intensive care unit. After the MPSE was introduced, utilization of WGS increased, time to ordering WGS decreased, and WGS diagnostic yield increased.

Aesthetic Efficacy and Safety of Combined Microfocused Ultrasound With Visualization and Calcium Hydroxylapatite Treatment: A Systematic Review of Human Evidence.

Although microfocused ultrasound with visualization (MFU-V) and calcium hydroxylapatite- carboxymethylcellulose (CaHA-CMC) have their individual strengths and have demonstrated effectiveness in aesthetic improvement and improving skin laxity, a combined treatment may sometimes be required to achieve comprehensive aesthetic enhancements that meet patients' needs and preferences. This review systematically summarizes the available evidence on combined MFU-V and CaHA-CMC treatment. A comprehensive search was conducted in Embase, MEDLINE ALL (Ovid), Web of Science Core Collection, and Cochrane Central.

Prenatal Lipopolysaccharide Stimulation Modulates Gastrointestinal Immunity and Oxidative Status in Weaned Pigs.

Gastrointestinal immunity and antioxidant defenses may be bolstered in young animals through prenatal immune system stimulation (PIS), but this is largely uninvestigated in swine. This study tested the hypothesis that PIS could regulate offspring's gastrointestinal immune response and oxidative stress profile. To this end, a PIS model was utilized in sows, delivering low-dose LPS during the final third of gestation to target the developing immune system.

Influence of Source of Origin and Region of Finishing on Growth Performance and Carcass Characteristics of Finishing Heifers Fed in the United States.

The objective was to evaluate growth performance and carcass traits of finishing beef heifers sourced and finished in different regions in the U.S. Heifers [n = 190; initial body weight (BW) 483 ± 0.

In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.

Huntington's disease, one of more than 50 inherited repeat expansion disorders, is a dominantly inherited neurodegenerative disease caused by a CAG expansion in HTT. Inherited CAG repeat length is the primary determinant of age of onset, with human genetic studies underscoring that the disease is driven by the CAG length-dependent propensity of the repeat to further expand in the brain. Routes to slowing somatic CAG expansion, therefore, hold promise for disease-modifying therapies.

BubbleCam: Engaging Privacy in Remote Sighted Assistance.

Remote sighted assistance (RSA) offers prosthetic support to people with visual impairments (PVI) through image- or video-based conversations with remote sighted assistants. While useful, RSA services introduce privacy concerns, as PVI may reveal private visual content inadvertently. Solutions have emerged to address these concerns on image-based asynchronous RSA, but exploration into solutions for video-based synchronous RSA remains limited.

Enhancing the Travel Experience for People with Visual Impairments through Multimodal Interaction: NaviGPT, A Real-Time AI-Driven Mobile Navigation System.

Assistive technologies for people with visual impairments (PVI) have made significant advancements, particularly with the integration of artificial intelligence (AI) and real-time sensor technologies. However, current solutions often require PVI to switch between multiple apps and tools for tasks like image recognition, navigation, and obstacle detection, which can hinder a seamless and efficient user experience. In this paper, we present NaviGPT, a high-fidelity prototype that integrates LiDAR-based obstacle detection, vibration feedback, and large language model (LLM) responses to provide a comprehensive and real-time navigation aid for PVI.

Forces Acting on the Foot of the American Alligator () During Pedal Anchoring.

This study was undertaken to explore the forces acting on the pes during pedal anchoring and to discern if pedal anchoring required the activation of the intrinsic pedal musculature. Replica feet equipped with strain gauges were moved over mud substrate, mimicking locomotion and pedal anchoring. Quantification of the substrate tracks demonstrated that they were similar to those made by freely moving , that the locomotor and pedal anchoring tracks were significantly different, and that the composition of the artificial feet significantly altered the tracks.

The EstroGene2.0 database for endocrine therapy response and resistance in breast cancer.

Endocrine therapies targeting the estrogen receptor (ER/ESR1) are the cornerstone to treat ER-positive breast cancers patients, but resistance often limits their effectiveness. Notable progress has been made although the fragmented way data is reported has reduced their potential impact. Here, we introduce EstroGene2.

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing.

Testing bipolarity.

Many psychological dimensions seem bipolar (e.g., happy-sad, optimism-pessimism, and introversion-extraversion).

Middle-aged females are resistant to LPS-induced learning deficits: Sex comparison.

Preclinical data have repeatedly shown learning and memory disruption following administration of the bacterial endotoxin lipopolysaccharide (LPS). Normal aging is reported to enhance vulnerability to LPS-induced cognitive impairments. However, a limitation is the primary use of male subjects.

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Large prospective clinical trials are underway or planned that examine the clinical utility and cost effectiveness of genome-based newborn screening (gNBS). One gNBS platform, BeginNGS, currently screens 53,575 variants for 412 severe childhood genetic diseases with 1,603 efficacious therapies. Retrospective evaluation of BeginNGS in 618,290 subjects suggests adequate sensitivity and positive predictive value (PPV) to proceed to prospective studies.

Innovative Strategies for Public Health Training in the Asia Pacific: Insights From Experience and Evidence.

The past decade has seen a rapidly changing landscape in priority areas for public health globally and, as such, across the teaching and learning curriculum for tertiary education in health sciences. The nature of some of these changes has led to pedagogical challenges in higher education that require transformative, interactive, and virtual modes of delivery and knowledge facilitation not previously seen. The COVID-19 pandemic, climate change, increasing health disparities, and a shift to a focus on noncommunicable diseases has merged with the changing nature of social, cultural, and technological preferences of the generations living through such times to see an increasing need in more viable teaching solutions for these "wicked problems.

Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO).

Objective: The objective of this study is to describe the impact of rapid and ultra-rapid whole genome sequencing (rWGS/urWGS) on the care of neonatal intensive care (NICU) patients who require extracorporeal membrane oxygenation (ECMO).

Study Design: This is a retrospective cohort study at a single-center NICU in a tertiary children's hospital. The study population includes NICU patients treated with ECMO from May 2017 to September 2023.

Decoding the Significance of Alpha Cell Function in the Pathophysiology of Type 1 Diabetes.

Alpha cells in the pancreas, traditionally known for their role in secreting glucagon to regulate blood glucose levels, are gaining recognition for their involvement in the pathophysiology of type 1 diabetes (T1D). In T1D, autoimmune destruction of beta cells results in insulin deficiency, which in turn may dysregulate alpha cell function, leading to elevated glucagon levels and impaired glucose homeostasis. This dysfunction is characterized by inappropriate glucagon secretion, augmenting the risk of life-threatening hypoglycemia.

Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding.

Huntington's disease (HD) arises from a CAG expansion in the () gene beyond a critical threshold. A major thrust of current HD therapeutic development is lowering levels of mutant mRNA (m) and protein (mHTT) with the aim of reducing the toxicity of these product(s). Human genetic data also support a key role for somatic instability (SI) in 's CAG repeat - whereby it lengthens with age in specific somatic cell types - as a key driver of age of motor dysfunction onset.

Achievement of the patient acceptable symptom state following total shoulder arthroplasty with nonspherical humeral head and inlay glenoid.

Background: Total shoulder arthroplasty (TSA) with a nonspherical humeral head component and inlay glenoid is a bone preserving treatment for glenohumeral arthritis. This study aims to describe minimum two year patient reported outcomes, patient acceptable symptomatic state (PASS) achievement, and complications following TSA with this prosthesis.

Methods: A retrospective review of patients undergoing TSA with nonspherical humeral head and inlay glenoid was performed.

A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.

Osteogenesis imperfecta (OI) constitutes a family of bone fragility disorders characterized by both genetic and clinical heterogeneity. Several different mouse models reproduce the classic features of OI, and the most commonly studied carry either a spontaneous or genetically induced pathogenic variant in the Col1a1 or Col1a2 gene. When OI is caused by primary alterations of type I collagen, it represents a systemic connective tissue disease that, in addition to the skeleton, also affects several extra-skeletal tissues and organs, such as skin, teeth, lung, heart, and others, where the altered type I collagen is also expressed.

Transitioning From Anesthesia to Emergency Medicine for Airway Management in Rural Trauma Patients.

Introduction: When our rural trauma center first became certified in 1986, the Emergency Department (ED) was a mix of board-certified Emergency Medicine (EM) and Family Medicine trained physicians each with various degrees of airway experience. Therefore, Anesthesia providers had provided airway management during trauma activations for decades. Recently, our institution saw dramatic growth in the ED which is now staffed by board certified EM physicians and complemented by an EM residency program.

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Purpose: Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking.