Johns Hopkins Medicine

Genetic Diagnosis in Epilepsy: Implications for Clinical Management

Purpose of Review To describe the clinical implications of genetic diagnoses in epilepsy and the recent advancements in this field. Recent Findings A genetic diagnosis in epilepsy has been shown to impact clinical management in almost half of individuals, often within three month...

Neuropharmacology of levamisole and its phase I metabolites: lack of evidence for levamisole-cocaine interactions

RATIONALE: The anthelmintic agent, levamisole, is a cocaine adulterant that causes serious adverse effects in humans. A number of hypotheses have been proposed to explain why levamisole is used as an adulterant. Here, we examined whether levamisole might enhance acute pharmacolog...

A patient-derived missense mouse model of Kabuki syndrome 1

Kabuki syndrome type 1 (KS1) is a rare cause of intellectual disability resulting from heterozygous pathogenic variants in the gene encoding the histone methyltransferase KMT2D. A previously established loss-of-function mouse model of KS1 exhibits key phenotypic features, and the...

Combining Small Aperture Approach and Toric Correction for Irregular Astigmatism Management

Purpose: Irregular astigmatism poses a challenge in cataract surgery due to its complex geometry and associated higher-order aberrations (HOAs), which limit the efficacy of conventional toric intraocular lenses (IOLs). IOLs featuring a small-aperture have shown promise in managin...

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy

BACKGROUND: Evidence of the diverse genetic architecture of dilated cardiomyopathy (DCM) continues to emerge and requires reassessment of the clinical relevance of implicated disease genes. Building on the 2019-2020 Clinical Genome Resource evaluation, the DCM gene curation exper...

Artifact Correction of Clinical Diffusion Weighted Imaging in Acute Ischemic Stroke

ABSTRACT Background Susceptibility‐induced geometric distortions and non‐physiologic hyperintensities confound acute ischemic stroke diagnosis on diffusion weighted imaging (DWI). Reverse phase‐encoded imaging needed for artifact correction is rarely acquired acutely. Structural...

Hospital-Based Severe Maternal Morbidity Surveillance and Review

Background: Learning from promising maternal health interventions is limited by the lack of standardized outcome measures needed for their evaluation. We describe the development and utilization of Maryland’s severe maternal morbidity (SMM) surveillance by the Maryland Maternal H...

Perceptions of and Barriers to Colorectal Cancer Screening Uptake in Underserved Baltimore and Eastern Shore Populations

Colorectal cancer (CRC) remains a leading cause of preventable cancer mortality, with persistent screening disparities in underserved communities. This qualitative study aimed to identify community-specific barriers to CRC screening among two distinct Maryland populations to info...

Best Case/Worst Case: A Multisite Randomized Trial of Scenario Planning for Patients With Late‐Stage Kidney Disease

BACKGROUND: Best Case/Worst Case (BC/WC) is a communication tool to support nephrologists and older adults with advanced chronic kidney disease with decisions about dialysis. We compared the effectiveness of training nephrologists to use BC/WC versus usual care on receipt of pall...

Extracorporeal CO2 elimination for acute exacerbation of severe COPD requiring invasive mechanical ventilation: a randomized controlled trial (the X-COPD trial)

Abstract Rationale Acute exacerbations of chronic obstructive pulmonary disease (AE-COPD) requiring invasive mechanical ventilation (IMV) are associated with high mortality and long-term disability. Extracorporeal CO₂ removal (ECCO₂R) using modern high-capacity devices may facili...

Safety and Effects of Gildeuretinol Acetate on Retinal Atrophic Lesions in Stargardt Disease

Importance Stargardt disease (STGD) is the most common macular dystrophy, resulting in profound loss of vision. There is no approved treatment. Objective To evaluate the safety and effects of oral gildeuretinol acetate on the growth of retinal atrophic lesions in individuals with...

Reproducible human reward imaging phenotypes exhibit differential sensitivity to dopamine D2 receptor antagonism

Abstract Human reward processing varies along cue-centric and outcome-centric axes, but a reproducible mechanistic account of individual variation in incentive salience attribution has been lacking. Using fMRI across five cohorts (N-total=1,251; N1=890; N2=245; N3=34; N4=48; N5=3...

The roles of symmetric and asymmetric parental histone recycling in cell fate, development, and disease

Replication of the epigenome occurs concurrently with DNA replication. A major component of epigenetic memory is contained in histones, and this memory is preserved via recycling of parental histones onto the leading and lagging strands of the replication fork. The histones of on...

Sex-modulated associations between cytomegalovirus cell-associated DNA and cognition in people with HIV on ART

Background: People with HIV (PWH) remain at risk for cognitive impairment, despite effective antiretroviral therapy (ART), a phenomenon linked to chronic immune activation and inflammation. Cytomegalovirus (CMV) has been implicated in HIV-associated neurocognitive impairment, but...

Autologous hematopoietic stem cell transplantation stabilizes retinal atrophy in multiple sclerosis

Abstract Autologous hematopoietic stem cell transplantation (aHSCT) is an effective treatment for aggressive multiple sclerosis refractory to disease-modifying therapies. Yet, its impact on neurodegeneration remains underexplored, and few predictive biomarkers for clinical outcom...

Bioprinted core-shell living material platform for spatially controlled encapsulation of Bacillus subtilis and sustained metabolite exchange

Antimicrobial resistance (AMR) represents an escalating global health crisis, demanding alternative strategies to reduce resistant pathogen burden across environments. Microbe-based biocontrol is promising, yet effectively deploying it in practical settings remains challenging. I...

Hyper‐Intense Tumor Peripheral Accumulation of Antibody‐Conjugated Iron Oxide Nanoparticles can Enable Breast Cancer Detection by Magnetic Particle Imaging

ABSTRACT Targeting nanoparticles to cancer cells in vivo remains a challenge for cancer imaging. We assessed nanoparticle distribution after injecting iron oxide nanoparticles conjugated with either a monoclonal anti‐HER2 (human epidermal growth factor 2), or a non‐specific IgG a...

Balancing privacy and performance: the impact of facial defacing on AI in medical imaging

Background Recent NIH Data Management and Sharing (DMS) policy updates and NIH controlled-access data security requirements have increased attention to facial anonymization and controlled-access handling of shared head imaging data. This is particularly relevant for datasets subm...

Cool Citizens? How Affectively Unpolarized Citizens View and Participate in Democracy

Abstract Does affective polarization change how citizens view and participate in democracy? We posit that the answer to this crucial question depends on how affectively un polarized citizens view and participate in democracy. Yet, the most common operationalization of affective p...

The PMADS project: a longitudinal multimodal cohort study to understand risk for perinatal mood and anxiety disorders

Abstract Background Perinatal mood and anxiety disorders (PMADs) are among the most common and consequential complications of pregnancy. The perinatal period is also characterized by profound hormonal fluctuations and large-scale brain plasticity. However, the mechanisms linking...