Physician-scientist Nicole Coufal cares for critically ill children in the pediatric ICU and studies microglial contributions to neurodevelopmental and neurodegenerative disease. She discusses with Neuron balancing basic and clinical research and how chance moments-from reading Oliver Sacks to a rotation in the burn unit-influenced her career and joy for mentorship.
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| http://dx.doi.org/10.1016/j.neuron.2023.09.030 | DOI Listing |
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Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome Sequencing.
J Intensive Care Med
December 2024
Department of Pediatrics, University of California at San Diego, La Jolla, CA, USA.
Objectives: Clinical utility of rapid whole genome sequencing (rWGS) has been reported in 30-70% of pediatric ICU patients who receive a molecular diagnosis. Rapid molecular diagnostic techniques have been increasingly integrated into critical care, yet the influence of genetic test results on palliative care related decision making is largely unknown. This study evaluates palliative care related outcomes after rWGS.
View Article and Find Full Text PDFThe prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Immunol Rev
October 2024
Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Aicardi-Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti-viral responses and nucleic acid metabolism. The mutations initiate autoinflammatory processes in the brain and systemically that are triggered by chronic overproduction of type I interferon (IFN), including IFN-alpha. Emerging disease-directed therapies aim to dampen autoinflammation and block cellular responses to IFN production, creating an urgent and unmet need to understand better which cells, compartments, and mechanisms underlying disease pathogenesis.
View Article and Find Full Text PDFRocky mountain spotted fever (RMSF) causes significant illness and death in children. Although historically rare in California, USA, RMSF is endemic in areas of northern Mexico that border California. We describe 7 children with RMSF who were hospitalized at a tertiary pediatric referral center in California during 2017-2023.
View Article and Find Full Text PDFProinflammatory immune cells disrupt angiogenesis and promote germinal matrix hemorrhage in prenatal human brain.
Nat Neurosci
November 2024
Department of Pathology and Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Article Synopsis
- - Germinal matrix hemorrhage (GMH) is a serious condition in preterm infants linked to blood vessel rupture in the brain, but the reasons behind this vulnerability are not well understood.
- - Research shows that microglia (immune cells in the brain) interact with developing blood vessels differently as the brain matures and their absence can hinder blood vessel growth in key brain areas.
- - In preterm infants with GMH, immune cells show abnormal activation, leading to inflammation and factors that compromise blood vessel integrity, suggesting that the immune response plays a crucial role in the development of GMH.
Pathogen kinetics and detection by next-generation sequencing in pediatric complicated pneumonia.
Diagn Microbiol Infect Dis
October 2024
University of California, San Diego, San Diego, CA; Rady Children's Hospital San Diego, San Diego, CA. Electronic address:
Article Synopsis
- Pediatric pneumonia can lead to severe complications like empyema, and a study was conducted to explore the effectiveness of next-generation sequencing (NGS) for detecting pathogens in children hospitalized with this condition.
- The study involved collecting various samples (plasma, endotracheal, nasopharyngeal, and pleural fluid) from young patients at different times during their hospital stay to evaluate NGS's diagnostic capabilities.
- Results showed that NGS reliably identified the same bacterial pathogens as traditional methods did, but was more effective overall, indicating it could improve non-invasive pathogen detection and antibiotic treatment strategies in the future.
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