Vanderbilt University Medical Center

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Implementation of a pilot online educational program to identify paramagnetic rim lesions

Background: Paramagnetic rim lesions are a highly specific magnetic resonance imaging biomarker for multiple sclerosis now incorporated into the 2024 McDonald Criteria. However, paramagnetic rim lesion identification remains underutilized in clinical practice. This study evaluate...

Addressing Common Problems in Autism Research: Cohort Development and Sample Description for a Participatory, Real-World, Longitudinal Study of Outcomes in Autistic Adults

Adult autism services research is plagued by methodological challenges, including difficulty obtaining representative or heterogeneous samples and a frequent mismatch between experimental methodologies and real-world settings. The Academic Autism Spectrum Partnership in Research...

The Link Between Opioid Misuse and Suicidal Ideation Is Strongest Among Sexual Minorities

ABSTRACT Opioid misuse and suicidal ideation (SI) are significant public health concerns in the United States, and incidence rates may be elevated among sexual minority people. We used data from the 2021 National Survey on Drug and Health (heterosexual, n = 39,647, lesbian/gay n...

Empiric MRSA Coverage for Children with Osteoarticular Infections: 2015 to 2024

BACKGROUND AND OBJECTIVES Staphylococcus aureus is the most common causative pathogen for children with acute hematogenous osteomyelitis (AHO) and acute bacterial arthritis (ABA). National guidelines recommend empiric coverage for methicillin-resistant S. aureus (MRSA) at hospita...

Perils and progress in epilepsy surgery utilization: Twenty‐five years later

Abstract More than 25 years have passed since the first randomized controlled trial (RCT) established that surgery is superior to continued anti‐seizure medication (ASM) for drug‐resistant temporal lobe epilepsy, and nearly as long since a joint practice parameter urged that appr...

Why Not Antivirals? Reconsidering Influenza Treatment in Children

In this issue of Pediatrics, Huang et al1 shed important light on the association between antiviral use and reduced influenza-related hospitalizations in children. Using a large national health care database from Taiwan and accounting for a number of clinically relevant factors,...

Tramadol Co‐Administration with Oxycodone or Hydrocodone Increases Opioid Burden without Improving Postoperative Pain Control

Tramadol is frequently co-prescribed with oxycodone or hydrocodone after surgery under the assumption that its dual mechanism of action provides an opioid-sparing benefit. However, evidence supporting this practice is limited and inconsistent. We conducted a secondary analysis of...

“I know how important it is”: A qualitative analysis of participants’ experiences in a vaccine safety study

Specialist immunization clinics can support vaccination counseling for individuals experiencing adverse events following immunization (AEFIs) and research into AEFIs. We sought to describe the experiences of participants from the Canadian Special Immunization Clinic Network COVID...

From HLA Association to Tissue Injury: Lessons from Drug Hypersensitivity and Multiple Sclerosis

HLA associations are among the strongest genetic signals in immune-mediated disease, yet they rarely explain incomplete penetrance, tissue localization, or opposing effects of different alleles. We use T cell-mediated drug hypersensitivity and multiple sclerosis as complementary...

Student Perceptions on Educational Handovers from Medical School to Residency

Abstract To improve the transition to residency, the Coalition for Physician Accountability recently recommended a post-Match, learner-driven educational handover. Few studies have analyzed students’ perspectives on the content of handovers, especially the inclusion of personal v...

The hematology workforce in the United States: past, present, and strategies for the future

From 2017-2021, the American Society of Hematology (ASH) completed the largest study ever conducted of the hematology workforce in the United States (US). The study highlighted a deficit in the classical hematology (CH) workforce: despite very high CH clinical volumes encountered...

Fusarium falciforme keratitis in a corneal transplant recipient treated successfully with fosmanogepix and intracameral amphotericin B

ABSTRACT Background Ocular fungal infections are a major cause of vision loss worldwide. Fusarium spp., a leading cause of fungal keratitis, is often difficult to treat. There are no current standardized treatment guidelines for fungal keratitis. We present a case of Fusarium spp...

Use of machine learning to enhance detection of transient astronomical phenomena in historical observatory images

Transient, star-like point sources that appear and vanish over short timescales are described in astronomical images prior to launch of Sputnik. We have reported that transient numbers diminish significantly in Earth’s shadow (shadow deficit) and are more likely within (+/-) one...

Burden of Disease in Pediatric Tumor-Induced Osteomalacia: A Literature Review

Tumor-induced osteomalacia (TIO) is an ultra-rare, paraneoplastic syndrome caused by tumors secreting fibroblast growth factor 23 (FGF23). In children, TIO may be mistaken for more common causes of rickets and osteomalacia, including monogenic forms, leading to long diagnostic de...

Dynamic cellular programs of human cardiac allograft rejection revealed by spatial transcriptomics

Abstract Allograft rejection following solid-organ transplantation is a major cause of graft dysfunction and mortality. Current diagnostic approaches rely on histology, which exhibits wide diagnostic variability and lacks clinically relevant molecular phenotyping. Here we leverag...

ATR is a critical dependency gene for uveal melanoma

GNAQ , GNA11 , CYSLTR2 , and PLCB4 are well-characterized oncogenic drivers of uveal melanoma (UM). The oncogenic stress induced by these mutations creates a reliance on specific dependency genes that support tumor cell proliferation and survival. However, the genes that broadly...

Identification of Siderophores With Unexpected Antibacterial Properties From Actinoplanes teichomyceticus

Actinoplanes teichomyceticus is a well‐established producer of bioactive secondary metabolites, including the glycopeptide antibiotic teicoplanin. Although its antibiotic biosynthetic capacity has been extensively investigated, its siderophore diversity and any additional biologi...

Prioritizing clinical utility to use allostatic load as a biomarker of the consequences of stress

Allostatic load measures the physiological consequences of stress and is associated with disease outcomes. Clinical use of allostatic load is limited, in part, because its calculation requires biomarkers not routinely measured in clinical care. Presently, we evaluated association...

Intraprocedural cardiac computed tomography-fluoroscopy image fusion guided structural heart intervention: a proof of concept experience during transcatheter aortic valve implantation

Intraoperative image guidance using cardiac CT with fluoroscopy image fusion has been shown to facilitate structural heart interventions. However, there has been limited experience on CT image fusion with fluoroscopy using aortic root calcifications from intraoperative 3D cone-be...