Boston Children's Hospital

A single-nucleus transcriptomic atlas of human inner ear development

Hearing and balance rely on coordinated activity of multiple inner ear cell types, yet the mechanisms governing their development and specification in humans remain unclear. Consequently, this limits our understanding of how disease genes affect cell type formation and function,...

Narcolepsy

This JAMA Insights discusses the etiology, clinical presentation, diagnostic evaluation, and treatment of narcolepsy.

A cytoskeleton-associated Plasmodium protein critical for organelle segregation

The malaria parasite, Plasmodium falciparum, replicates asexually within red blood cells by schizogony, a mode of division in which organelles divide multiple times before a final coordinated cytokinesis event, called segmentation, partitions them into dozens of merozoites. The P...

A 6-Year-Old With Becker Muscular Dystrophy and Catatonia

Catatonia is often underrecognized and underdiagnosed, particularly in young children. Catatonia occurs secondary to a medical and/or psychiatric etiology. The diagnosis can be supported by validated rating scales, including the Pediatric Catatonia Rating Scale and/or response to...

Evaluation of a Rapid Immunoassay for Molecular Subphenotype Classification in Pediatric Acute Cardiorespiratory Failure

OBJECTIVES: Molecular subphenotypes, identified through latent class analysis (LCA) of biomarker profiles, have the potential to guide targeted therapeutics in critical care. We have previously published that intensive insulin management has subphenotype-specific beneficial effec...

Nuclear Localization Signals Enable the Cellular Delivery of an Anti-CRISPR Protein to Control Genome Editing

ABSTRACT Precise regulation of Cas9 activity is essential to minimize off-target effects, mosaicism, chromosomal alterations, immunogenicity, and genotoxicity in genome editing. Although type II anti-CRISPR proteins (Acrs) can inhibit and regulate Cas9, their size and anionic cha...

A Real-World Evaluation of Large Language Model–Generated Hospital Courses in Pediatrics

BACKGROUND: Large language model (LLM)-generated hospital courses are increasingly integrated into electronic health records (EHRs), yet their accuracy and safety in pediatric populations remain poorly characterized. OBJECTIVE: To evaluate the accuracy, text quality, and perceive...

Transcriptome-based synthetic lethality predictions to improve targeted therapy/immunotherapy treatment prioritization in non-metastatic breast cancer: BC-SELECT

Abstract Patients with non-metastatic triple-negative (TNBC) or HER2-positive (HER2+) breast cancer do not have tools to predict treatment response or prioritize options prior to starting therapy. Pathologic complete response (pCR) is a proxy that requires neoadjuvant treatment....

Impact of Omitting Observation-Status Data on Hospital Readmission Metric for Pediatric Care

OBJECTIVES: Literature from Medicare beneficiaries suggests that hospital readmission metrics limited to inpatient encounters, omitting observation-status data, may not fully capture hospital performance and affect rankings. The impact of omitting observation-status data on this...

Program Directors’ Varied Conceptions of Practice Readiness

BACKGROUND: Residency graduates must be "practice ready" by the time they leave training. This study explored how pediatric residency program directors view their role and responsibility in determining practice readiness and examined how characterizations of practice readiness di...

Disruptions in speech, language and social communication in lysosomal storage diseases

Communication enables social connection, autonomy and identity, making it a fundamental domain of human functioning. In lysosomal storage diseases (LSDs), progressive neurological dysfunction can severely disrupt speech, language and social communication, resulting in profound is...

Severe Fetal Cardiomyopathy: Considerations for Extracorporeal Cardiopulmonary Resuscitation During Neonatal Resuscitation

Primary cardiomyopathies are associated with poor neonatal outcomes, including high mortality rates. Neonatal care of infants with significant prenatal cardiac diagnoses may warrant additional management considerations beyond standard Neonatal Resuscitation Program guidelines. Ma...

Validation of AACN’s Healthy Work Environment Assessment Tool–Team

Background In 2024, the American Association of Critical-Care Nurses (AACN) updated the Healthy Work Environment Assessment Tool (HWEAT), renamed HWEAT-Team. Objective Validating HWEAT-Team for interprofessional use. Methods This was a multisite, descriptive, nonexperimental corr...

Functional fractionation of large-scale brain networks in the human subcortex

Brain network mapping plays a crucial role in advancing our understanding of human brain organization and the neuroanatomic foundations of cognition. Historically, the identification of large-scale brain networks has focused on the cerebral cortex. Some cortical networks have bee...

Microfluidic Droplet Plate Preserving Single Human Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Morphology and Function

ABSTRACT Cardiovascular disease (CVD) continues to be a significant contributor to premature mortality and the financial burden of healthcare. Human induced pluripotent stem cell‐derived cardiomyocytes (hiPSC‐CMs) are increasingly utilized to investigate patient‐specific genetic...

B Cell Mechanisms Underlie IgG Glycan Alterations in Obesity

Abstract Insulin resistance is a major complication of obesity. In adults with obesity insulin resistance is associated with a hyposialylation of the Fc-linked glycan on IgG, and a causal link between IgG hyposialylation and glucose dysregulation has been demonstrated in obese mi...

Nanobodies specific for Vβ11 enable detection and noninvasive imaging of antigen-specific T cells in vivo

Through screening of a VHH phage display library constructed from an alpaca immunized with the recombinantly expressed murine myelin oligodendrocyte (MOG)-specific 2D2 T cell receptor (TCR), we identified nanobodies that reduced antigen-driven 2D2 T cell activation in vitro. Immu...

Mapping Essential Genes in Klebsiella pneumoniae Using Transposon-Insertion Sequencing (Tn-seq)

Abstract Background Klebsiella pneumoniae is a common cause of sepsis in adults and children. Given the emergence of multidrug-resistant isolates, there is an urgent need to develop novel therapeutic strategies. Essential bacterial genes and their products, which are critical to...

Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa

Abstract Face2Gene is a clinical tool that leverages facial features to aid genetic diagnosis. The DeepGestalt application suggests potential diagnoses based on facial similarity, while the D-Score evaluates likelihood of an individual having dysmorphic features suggestive of a p...

Fusion-driven oncogenic programs shape the immune landscape in translocation renal cell carcinoma

Renal cell carcinomas comprise multiple molecularly distinct cancers but most are treated empirically with therapies designed for clear cell RCC (ccRCC), the most common subtype, due to incomplete understanding of subtype-specific biology. We analyzed single-cell transcriptomes a...