A5065566020- RNA regulation and disease
- Genomics and Rare Diseases
- Neuroscience of respiration and sleep
- Zebrafish Biomedical Research Applications
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Peroxisome Proliferator-Activated Receptors
- Neonatal Respiratory Health Research
- Neonatal and fetal brain pathology
- RNA modifications and cancer
- interferon and immune responses
- Epilepsy research and treatment
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurogenetic and Muscular Disorders Research
- Axon Guidance and Neuronal Signaling
- Child Abuse and Related Trauma
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Cytomegalovirus and herpesvirus research
- Traumatic Brain Injury Research
- Vitamin K Research Studies
- Infant Health and Development
- Nuclear Receptors and Signaling
- Bacterial Infections and Vaccines
University of Utah
2016-2025
Primary Children's Hospital
2004-2025
Intermountain Healthcare
2010-2024
Children's Center
2020-2024
Massachusetts General Hospital
2021-2024
Precision for Medicine (United States)
2024
Children's Hospital of Philadelphia
2023
University of Colorado Denver
2023
Children's Hospital Colorado
2023
University of Pennsylvania
2023
This is the first clinical practice guideline from American Academy of Pediatrics that specifically applies to patients who have experienced an apparent life-threatening event (ALTE). has 3 objectives. First, it recommends replacement term ALTE with a new term, brief resolved unexplained (BRUE). Second, provides approach patient evaluation based on risk infant will repeat or serious underlying disorder. Finally, management recommendations, key action statements, for lower-risk infants. The...
Jay Berry and colleagues report findings from an analysis of hospitalization data in the US, examining proportion inpatient resources attributable to care for children with neurological impairment.
<b>Objectives:</b> Leukodystrophies are diseases of the white matter for which data concerning clinical characteristics, incidence, disease burden, and description outcomes sparse. The purpose our study was to determine incidence most common types inherited leukodystrophies in a population, mortality time course deaths, neurologic features patients, health care costs associated with leukodystrophies. <b>Methods:</b> We conducted retrospective, hospital- clinic-based surveillance among...
The most conserved part of the vertebrate dopaminergic system is orthopedia ( otp )-expressing diencephalic neuronal population that constitutes diencephalospinal tract (DDT). Although studies in neonatal murine spinal cord vitro suggest an early locomotor role DDT, function DDT developing vertebrates vivo remains unknown. Here, we investigated development zebrafish larvae. To assess behavioral and neural pattern, used high-throughput video tracking combination with peripheral nerve...
Neuroimaging of the preterm infant is a common assessment performed in NICU. Timely and focused studies can be used for diagnostic, therapeutic, prognostic information. However, significant variability exists among neonatal units as to which modalities are when imaging obtained. Appropriate timing selection neuroimaging help identify neonates with brain injury who may require therapeutic intervention or at risk neurodevelopmental impairment. This clinical report reviews different broadly...
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
Apparent life-threatening events in infants constitute a significant challenge for health care providers. event evaluation and management are poorly defined, outcomes have not been clearly determined. Our objectives were to characterize short- long-term risks death, child abuse, abnormal neurological of after an apparent identify clinical features that predictive these outcomes.We collected data from ages birth 12 months age who hospitalized during 5-year time period. Patients evaluated...
Abstract The 2009 pandemic influenza A (H1N1) has been recognized to cause neurological complications including seizures and encephalopathy. We identified 18 children with H1N1 from first second wave activity, compared characteristics seasonal influenza. Seizures, encephalopathy, status epilepticus were common presentations. Focal symptoms persisted in 22% of patients at discharge. Compared influenza, more likely have focal findings, aphasia, abnormal electroencephalographic findings. In...
Abstract Early infantile epileptic encephalopathy (EIEE) is a devastating epilepsy syndrome with onset in the first months of life. Although mutations more than 50 different genes are known to cause EIEE, current diagnostic yields gene panel tests or whole-exome sequencing below 60%. We applied whole-genome analysis (WGA) consisting and comprehensive variant discovery approaches cohort 14 EIEE subjects for whom prior genetic had not yielded diagnosis. identified both de novo point INDEL...
Peroxisomal biogenesis disorders (PBDs) are genetic of peroxisome and metabolism that characterized by profound developmental neurological phenotypes. The most severe class PBDs—Zellweger spectrum disorder (ZSD)—is caused mutations in peroxin genes result both non‐functional peroxisomes mitochondrial dysfunction. It is unclear, however, how defective contribute to impairment. In order understand the molecular basis this inter‐organellar relationship, we investigated fate peroxisomal mRNAs...
<h3>Objective:</h3> We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency clinical overlap spinal muscular atrophy distress (SMARD) type 1 but lacking mutation in the <i>IGHMBP2</i> gene. <h3>Methods:</h3> Exome sequencing was used identify de novo <i>LAS1L</i> gene proband. Pathogenicity of validated using zebrafish model by morpholino-mediated knockdown <i>las1l</i>. <h3>Results:</h3> identified X-linked proband (p.S477N). The is highly...
This clinical practice guideline has 2 primary objectives. First, it recommends the replacement of term "apparent life-threatening event" (ALTE) with a new term, "brief resolved unexplained (BRUE). Second, provides an approach to evaluation and management that is based on risk infant will have repeat event or serious underlying disorder.Clinicians should use BRUE describe occurring in younger than 1 year when observer reports sudden, brief, now episode ≥1 following: (1) cyanosis pallor; (2)...
Epithelia provide a critical protective barrier for our organs and are also the sites where most carcinomas form. Most studies on epithelia use cell culture or organisms high-resolution live imaging is inaccessible without invasive techniques. Here, we introduce developing zebrafish epidermis as an excellent in vivo model system studying living epithelium. We developed tools to fluorescently tag specific epithelial types express genes mosaic fashion using five GAL4 lines identified from...