Boston Children's Hospital

Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework

Abstract Objective Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes....

Stereotypical interciliary contacts in a C. elegans sense organ

Physical interactions among cells and their processes are critical for intercellular communication and the generation of ordered tissue patterns. Primary cilia projecting from the cell surface have recently been shown to form contacts with the processes of diverse cell types, as...

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...

δ2-Protocadherins organize parallel indirect basal ganglia circuits

Abstract The basal ganglia (BG) contain multiple parallel neural circuits, each of which may control different behaviors. However, how the distinct parallel BG circuits are molecularly organized is not known. Here we show that two δ2-protocadherins (PCDHs), PCDH17 and PCDH10, whi...

“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...

Variation in In-Hospital Emergency Transfer Rates Across Pediatric Hospitals

BACKGROUND: Clinical deterioration with late escalation, termed emergency transfer (ET), is a key safety metric. However, national benchmarking is limited by variable definitions. We sought to estimate pooled ET rates and assess variation across pediatric hospitals. METHODS: We p...

Opening editorial for the BMC Anesthesiology collection: recent advances in anesthesia for congenital cardiac diseases

Congenital cardiac anesthesia has evolved substantially over recent decades, contributing to improving outcomes and survival for patients with congenital heart disease (CHD). BMC Anesthesiology has initiated a new Collection, Recent Advances in Anesthesia for Congenital Cardiac D...

Apical extracellular matrix development

The apical extracellular matrix (aECM) plays crucial roles during morphogenesis and forms the interface through which tissues communicate with the environment. The aECM exhibits complex molecular composition and structure, including multi-layered organization, localized cell-type...

Fatal Neuroinvasive Astrovirus VA1 Encephalitis in a Child With High‐Risk B‐ALL Receiving Blinatumomab

O.L. is a named inventor on patents held by Boston Children's Hospital related to vaccine adjuvants and antigens as well as human in vitro systems that model the safety and immunogenicity of vaccines and immunotherapeutics. O.L.’s laboratory receives sponsored research support fr...

Inhibition of RhoA-mediated secretory autophagy in megakaryocytes mitigates myelofibrosis in mice

Abstract Megakaryocytes (MKs) are large, polyploid cells that contribute to bone marrow homeostasis through the secretion of cytokines such as transforming growth factor β1 (TGFβ1). During neoplastic transformation, immature MKs accumulate in the bone marrow where they induce fib...

COPI Coatomer Regulates Several Steps of HDL Metabolism

Abstract Background Reverse cholesterol transport by high density lipoproteins (HDL) is considered as an anti-atherogenic metabolic pathway. Hepatocytes determine the efficacy of this pathway by the production of apolipoprotein A-I (apoA-I) and its lipidation by ATP binding casse...

Cross-sectional survey of perimenopausal women for menopause symptoms and attitudes in Singapore

OBJECTIVE: Menopause symptoms and experiences vary considerably between women and can be influenced by multiple biopsychosocial and cultural factors, age and ethnicity. This study investigated the symptoms and attitudes of perimenopausal women in Singapore. METHOD: Women aged 40-...

Developing Consensus Using the Delphi Method

The Delphi method is a technique for obtaining consensus from a panel of experts on a particular topic or set of decisions, such as diagnostic or treatment algorithms, medical education competencies, or curricular components. This article aims to introduce researchers new to cons...

Longitudinal Quantitative Mapping of Meniscal Morphological and Signal Intensity Differences After ACL Surgery

BACKGROUND: Meniscal tears are frequently associated with anterior cruciate ligament (ACL) injuries. Evaluating longitudinal changes in meniscal integrity using quantitative magnetic resonance imaging after ACL surgery may provide valuable insight into joint recovery and subseque...

Beyond ‘diagnostic error’: an ethnography of resilient behaviours and system adaptations in paediatric outpatient diagnosis

Background Improving paediatric diagnosis by addressing errors (Safety-I) is insufficient for diagnostic excellence. Resilience engineering’s approach to understanding adaptations to achieve success in everyday work may elucidate how individuals and systems manage diagnostic comp...

A study protocol for developing an implementation strategy bundle to enhance adoption of pediatric familial hypercholesterolemia screening

Familial hypercholesterolemia (FH) is the most common primary lipid disorder of childhood, affecting 1 in 250–350 children. Universal childhood cholesterol screening is an opportunity for earlier and more effective FH diagnosis and treatment that is superior to adult screening in...

Safety and Tolerability of Chronic Carvedilol in Pediatric Dilated Cardiomyopathy: A Report from the Pediatric Cardiomyopathy Registry

Long-term studies on safety of beta-blockers in pediatric heart failure (HF) are scant. We describe the safety profile, dose ranges, and tolerability of carvedilol in pediatric dilated cardiomyopathy (DCM). The Pediatric Cardiomyopathy Registry (PCMR) was used to identify patient...

Assessing the Relationship Between Multidimensional Area-Level Indicators and Lupus Disease Activity in Children

Background/Objectives: Childhood-onset systemic lupus erythematosus (cSLE) is a chronic, multisystem autoimmune disease that is associated with more severe organ involvement, more intensive drug therapy, and increased long-term organ damage compared with adult-onset disease. The...

Understanding the Impact of Living Situation and Social Satisfaction on Depression and Substance Use in Autistic Young Adults Without Intellectual Disability

Background: Autistic young adults face elevated risks for depression, and emerging evidence indicates that some engage in substance use. Residential status and social satisfaction may be related to these outcomes, yet little research has examined their interplay in autistic popul...

Challenges and approaches to genetic variants of uncertain significance in clinical practice and research

Despite advances in sequencing technologies and variant interpretation frameworks, many variants identified in genetic testing, particularly missense variants, remain classified as variants of uncertain significance (VUS), posing ongoing challenges in diagnosis and clinical manag...