Vanderbilt University Medical Center

Single-nucleus transcriptome-wide association study of human brain disorders

Abstract Common brain disorders impose a substantial health burden, but localizing their genetic risk in the brain remains challenging 1 . Although genome-wide association studies have identified numerous loci associated with neuropsychiatric and neurodegenerative disorders, many...

Interoceptive Accuracy, Metacognition, and Facial Trustworthiness Perception Across the Adult Lifespan

Abstract Older adults often exhibit more positive impressions when forming trustworthiness impressions based on facial appearance. These judgements influence social decisions in later interpersonal interactions and are thought to put older adults at greater risk of victimization....

AI-based characterization of Alzheimer’s disease phenotypes from population-scale single-cell data

The complexity of Alzheimer’s disease (AD) manifests in diverse clinical phenotypes, including cognitive impairment and neuropsychiatric symptoms. However, the etiology of these phenotypes remains elusive. To address this, the PsychAD project generated a population-level single-n...

Lifespan single-cell transcriptomic atlas of the human prefrontal cortex

The human brain undergoes profound changes from early development through late adulthood, shaping cognition, behaviour and vulnerability to disease1,2. Understanding how these changes are organized within specific brain regions and cell types is essential for interpreting normal...

Single-cell atlas of transcriptomic vulnerability across brain disorders

Abstract Neurodegenerative and neuropsychiatric diseases impose a considerable societal and public health burden. However, our understanding of the molecular mechanisms underlying these highly complex conditions remains limited 1,2 . Here, to gain deeper insights into the aetiolo...

Single-nucleus atlas of cell-type specific genetic regulation in the human brain

Abstract Genetic risk variants for common diseases are predominantly located in non-coding regulatory regions and modulate gene expression. Although bulk tissue studies have elucidated shared mechanisms of regulatory and disease-associated genetics, the cellular specificity of th...

Global burden of moyamoya syndrome in pediatric sickle cell disease and implications for the neurosurgical workforce: a systematic review

Abstract Objective The aims of the study were twofold: 1) quantify the global burden of pSCD|MMS, and 2) estimate the number of children who warrant specialist evaluation for possible surgical revascularization. Methods A systematic review was conducted following PRISMA guideline...

Predicting unplanned acute care transfer from an inpatient rehabilitation facility across rehabilitation populations

Risk factors for acute care transfers (ACTs) from inpatient rehabilitation facilities (IRFs) vary by setting and patient population. Prior risk prediction models designed to apply to all IRF patients in an IRF have achieved poor to acceptable predictive value, while better perfor...

Conserved C-terminal residues adjacent to the canonical PDX1 homeodomain are required for chromatin occupancy and pancreas development

Essential roles for the PDX1 transcription factor in pancreatic development and β-cell function are well-known, yet the structure-function relationships of domains within its C-terminus remain incompletely defined. We identified a focal intrinsically disordered region (IDR) spann...

LEVERAGING A NETWORK OF EHR-LINKED BIOBANKS TO INVESTIGATE CLINICAL AND GENETIC RISK FOR PERINATAL DEPRESSION

Perinatal depression (PND) is a depressive illness occurring during pregnancy and up to one year following childbirth. PND affects 10-20% of mothers and can contribute to maternal mortality and morbidity, as well as adverse outcomes in children. Despite increasing interest in ris...

Sex-related variability of white-matter tracts is robust to tractography methodology

Abstract Diffusion tractography is the prominent in-vivo technique to study and investigate white-matter pathways in the human brain. While tractography is a powerful method, recent work suggests that different tractography methods can produce strikingly different representations...

Keyphrase identification using minimal labeled data with hierarchical contexts and transfer learning

Interoperable clinical decision support system (CDSS) rules provide a pathway to interoperability, a well-recognized challenge in health information technology. Building an ontology facilitates creating interoperable CDSS rules, and identifying the keyphrases (KP) from the existi...

Insights into the Datasets, Tools, and Training Needs of the AnVIL Community: 2024

Background The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) provides a secure cloud-based environment where research and education communities can analyze genomic and biomedical data. The platform supports a wide range of data analysis as...

α-Parvin regulation of cell rearrangement is critical for ureteric bud branching morphogenesis

All branched tubular structures, including the kidney collecting system, are formed by branching morphogenesis, a process that includes tip branching and trunk narrowing. Tight control of cell movement and rearrangement is a prerequisite for branching morphogenesis. The role of i...

Optimization of culture read times using full microbiology laboratory automation

ABSTRACT Clinical microbiology laboratories are increasingly adopting automation to meet testing demands, improve throughput, and accelerate diagnostic turnaround. This study evaluated optimal culture read times using Copan WaspLab microbiology laboratory automation (MLA) to dete...

Weight Gain Goals and Factors Associated With Readmission for Faltering Weight in Infants

OBJECTIVE: Infants hospitalized for faltering weight are a vulnerable population with limited evidence guiding inpatient management and weight gain targets. We examined associations of patient factors and weight gain target attainment with faltering weight-specific readmission an...

Impact of post‐chemotherapy classification on outcomes in stage III and IV unilateral favorable histology Wilms tumor: Pooled data from Children’s Oncology Group AREN0532, AREN0533, and AREN03B2 studies

Abstract Background Improvements in therapy for patients with favorable histology Wilms tumor (FHWT) have relied on refinement of risk stratification for therapeutic assignment through identification of favorable and unfavorable prognostic factors. Although well established in In...

Beyond One-Size-Fits-All: Redesigning Research Training in Pediatric Cardiology Fellowship

Research training is a required component of pediatric cardiology fellowship in the United States, intended to foster scholarly productivity, critical thinking, and academic development. However, two national surveys of fellows and fellowship program directors suggest that the cu...

Orthostatic Hypertension: Clinical Spectrum and Gaps in Knowledge

PURPOSE OF REVIEW: Orthostatic hypertension (oHT) is increasingly recognized as a clinically relevant but poorly understood disorder of autonomic blood pressure control. This review aims to summarize the current understanding of the clinical spectrum and pathophysiology of oHT, e...

Epithelial-mesenchymal Wnt crosstalk directs planar cell polarity in the developing cochlea

Cochlear hair cells are precisely oriented by planar cell polarity. Wnt proteins direct planar cell polarity in vertebrates, but their roles in regulating cochlear planar cell polarity remain unclear. Here, we inhibit Wnt secretion by ablating epithelial Wntless and find shortene...