Naxos Disease and Related Cardio-Cutaneous Syndromes.

Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.

EyeLiner: A Deep Learning Pipeline for Longitudinal Image Registration Using Fundus Landmarks.

Objective: Detecting and measuring changes in longitudinal fundus imaging is key to monitoring disease progression in chronic ophthalmic diseases, such as glaucoma and macular degeneration. Clinicians assess changes in disease status by either independently reviewing or manually juxtaposing longitudinally acquired color fundus photos (CFPs). Distinguishing variations in image acquisition due to camera orientation, zoom, and exposure from true disease-related changes can be challenging.

Association Between Autograft Choice and Psychological Readiness to Return to Sport After ACL Reconstruction.

Background: It has been demonstrated that an athlete's psychological readiness contributes to one's ability to successfully return to sport (RTS) after anterior cruciate ligament (ACL) reconstruction. However, the effect of graft choice on psychological readiness is not yet understood.

Purpose/hypothesis: The purpose of this study was to evaluate the association between graft choice and an athlete's psychological readiness to RTS.

Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of critically ill COVID-19 and idiopathic pulmonary fibrosis.

Most genetic variants identified through genome-wide association studies (GWAS) are suspected to be regulatory in nature, but only a small fraction colocalize with expression quantitative trait loci (eQTLs, variants associated with expression of a gene). Therefore, it is hypothesized but largely untested that integration of disease GWAS with context-specific eQTLs will reveal the underlying genes driving disease associations. We used colocalization and transcriptomic analyses to identify shared genetic variants and likely causal genes associated with critically ill COVID-19 and idiopathic pulmonary fibrosis.

Sex Differences in Circadian Timing and Biological Night in Adolescents.

Circadian rhythms, intrinsic 24-h cycles that drive rhythmic changes in behavior and physiology, are important for normal physiology and health. Previous work in adults has identified sex differences in circadian rhythms of melatonin, temperature, and the intrinsic period of the human circadian timing system. However, less is known about sex differences in circadian rhythms at other developmental stages.

Sexual identity, sexual behavior, and drug use behaviors among people who use drugs in the rural U.S.

Introduction: People who use drugs (PWUD) are at risk of HIV infection, but the frequency and distribution of transmission-associated behaviors within rural communities is not well understood. Further, while interventions designed to more explicitly affirm individuals' sexual orientation and behaviors may be more effective, descriptions of behavior variability by orientation are lacking. We sought to describe how disease transmission behaviors and overdose risk vary by sexual orientation and activity among rural PWUD.

Towards contrast-agnostic soft segmentation of the spinal cord.

Spinal cord segmentation is clinically relevant and is notably used to compute spinal cord cross-sectional area (CSA) for the diagnosis and monitoring of cord compression or neurodegenerative diseases such as multiple sclerosis. While several semi and automatic methods exist, one key limitation remains: the segmentation depends on the MRI contrast, resulting in different CSA across contrasts. This is partly due to the varying appearance of the boundary between the spinal cord and the cerebrospinal fluid that depends on the sequence and acquisition parameters.

Convening Hispanic/Latino Caregiving Advisors for Inclusive Research in Dementia Palliative Care.

Dementia clinical trials often fail to include diverse and historically minoritized groups. We sought to adapt the Alzheimer's Disease and Related Dementias-Palliative Care (ADRD-PC) clinical trial to improve enrollment and address the cultural needs of people with late-stage ADRD who identify as Hispanic or Latino and their family caregivers. Bilingual, bicultural research team members adapted study materials and processes using the Cultural Adaptation Process Model.

Neurobehavioral Symptoms Partially Mediate the Effects of Depression and PTSD on Participation for Veterans With Mild Traumatic Brain Injury: A Cross-Sectional Study.

Objective: To examine whether neurobehavioral symptoms mediate the relationship between comorbid mental health conditions (major depressive disorder [MDD] and/or posttraumatic stress disorder [PTSD]) and participation restriction among Veterans with mild traumatic brain injury (mTBI).

Setting: Veterans Health Administration (VHA).

Participants: National sample of Veterans with mTBI who received VHA outpatient care between 2012 and 2020.

Sex Differences in Early/Unplanned Separation Among US Service Members With a History of Mild Traumatic Brain Injury.

Objective: To investigate the incidence of early/unplanned (E/U) separations following mild traumatic brain injury (mTBI) and assess whether sex impacts the hazard of separation.

Setting: Military Health System (MHS).

Participants: Active duty service members (N = 75,730) with an initial mTBI diagnosis in military records between January 2011 and January 2018.

Therapeutic interception in individuals at risk of rheumatoid arthritis to prevent clinically impactful disease.

Multiple clinical trials for rheumatoid arthritis (RA) prevention have been completed. Here, we set out to report on the lessons learnt from these studies. Researchers who conducted RA prevention trials shared the background, rationale, approach and outcomes and evaluated the lessons learnt to inform the next generation of RA prevention trials.

Brain Function Outcomes of Recent and Lifetime Cannabis Use.

Importance: Cannabis use has increased globally, but its effects on brain function are not fully known, highlighting the need to better determine recent and long-term brain activation outcomes of cannabis use.

Objective: To examine the association of lifetime history of heavy cannabis use and recent cannabis use with brain activation across a range of brain functions in a large sample of young adults in the US.

Design, Setting, And Participants: This cross-sectional study used data (2017 release) from the Human Connectome Project (collected between August 2012 and 2015).

Safety and Efficacy of Lotilaner Ophthalmic Solution (0.25%) in Treating Demodex Blepharitis: Pooled Analysis of Two Pivotal Trials.

Introduction: Lotilaner ophthalmic solution (0.25%) is the first United States Food and Drug Administration (US FDA)-approved drug for treating Demodex blepharitis. In pivotal trials, it was found to be well tolerated and demonstrated a significant reduction in collarettes and mite density after a 6-week treatment regimen.

Synergistic inhibition of colorectal cancer progression by silencing Aurora A and the targeting protein for Xklp2.

Background: Unraveling the pathogenesis of colorectal cancer (CRC) can aid in developing prevention and treatment strategies. Aurora kinase A (AURKA) is a key participant in mitotic control and interacts with its co-activator, the targeting protein for Xklp2 (TPX2) microtubule nucleation factor. AURKA is associated with poor clinical outcomes and high risks of CRC recurrence.

Current state and promise of user-centered design to harness explainable AI in clinical decision-support systems for patients with CNS tumors.

In neuro-oncology, MR imaging is crucial for obtaining detailed brain images to identify neoplasms, plan treatment, guide surgical intervention, and monitor the tumor's response. Recent AI advances in neuroimaging have promising applications in neuro-oncology, including guiding clinical decisions and improving patient management. However, the lack of clarity on how AI arrives at predictions has hindered its clinical translation.

Racial Disparities in Time to Huntington Disease Diagnosis in North America: An ENROLL-HD Analysis.

Background And Objectives: There are well-documented racial and ethnic disparities in access to neurologic care and disease-specific outcomes. Although contemporary clinical and neurogenetic understanding of Huntington disease (HD) is thanks to a decades-long study of a Venezuelan cohort, there are a limited number of studies that have evaluated racial and ethnic disparities in HD. The goal of this study was to evaluate disparities in time from symptom onset to time of diagnosis of HD.

Improving safety in the performance of robotic urinary diversions: a narrative review.

Urinary diversions are performed for a wide variety of indications, including bladder removal for cancer treatment, post-cancer treatment complications, trauma, or bladder pain. The robotic approach has been increasingly used in performing urinary diversions since the introduction of the surgical robot. A PubMed keyword search was performed on September 14, 2023 with the terms: robotic and urinary diversion.

Environment scan of generative AI infrastructure for clinical and translational science.

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 institutions supported by the CTSA Program led by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) at the United States. Key findings indicate a diverse range of institutional strategies, with most organizations in the experimental phase of GenAI deployment. The results underscore the need for a more coordinated approach to GenAI governance, emphasizing collaboration among senior leaders, clinicians, information technology staff, and researchers.

Comparative analysis of ambient, in-home, and personal exposures reveals associations between breathing zone pollutant levels and asthma exacerbations in high-risk children.

Background: Air pollution is associated with poor asthma outcomes in children. However, most studies focus on ambient or indoor monitor pollution levels. Few studies evaluate breathing zone exposures, which may be more consequential for asthma outcomes.

Assessing online chat-based artificial intelligence models for weight loss recommendation appropriateness and bias in the presence of guideline incongruence.

Background And Aim: Managing obesity requires a comprehensive approach that involves therapeutic lifestyle changes, medications, or metabolic surgery. Many patients seek health information from online sources and artificial intelligence models like ChatGPT, Google Gemini, and Microsoft Copilot before consulting health professionals. This study aims to evaluate the appropriateness of the responses of Google Gemini and Microsoft Copilot to questions on pharmacologic and surgical management of obesity and assess for bias in their responses to either the ADA or AACE guidelines.

Strong turbulent flow in the subauroral region in the Antarctic can deteriorate satellite-based navigation signals.

In the subauroral zone at the boundary of the auroral oval in the evening and night hours during geomagnetic disturbances, a narrow (about 1°-2°) and extended structure (several hours in longitude) is formed. It is known as a polarization jet (PJ) or the subauroral ion drift (SAID). The PJ/SAID is a fast westward ion drift and is one of the main signatures of a geomagnetic disturbance in the subauroral ionosphere at the altitudes of the F-layer, when the geomagnetic AE index reaches more than 500 nT.

Retinoid signaling in pancreas development, islet function, and disease.

All-trans retinoic acid (ATRA) signaling is essential in numerous different biological contexts. This review highlights the diverse roles of ATRA during development, function, and diseases of the pancreas. ATRA is essential to specify pancreatic progenitors from gut tube endoderm, endocrine and exocrine differentiation, and adult islet function.

Methods to Adjust for Confounding in Test-Negative Design COVID-19 Effectiveness Studies: Simulation Study.

Background: Real-world COVID-19 vaccine effectiveness (VE) studies are investigating exposures of increasing complexity accounting for time since vaccination. These studies require methods that adjust for the confounding that arises when morbidities and demographics are associated with vaccination and the risk of outcome events. Methods based on propensity scores (PS) are well-suited to this when the exposure is dichotomous, but present challenges when the exposure is multinomial.