High Resolution Ventilation and Perfusion MRI Assessment of Neuroendocrine Cell Hyperplasia of Infancy (NEHI) in Infants and Young Children: Technical Feasibility and Direct Clinical Application

Awardee: Katie Krone

Institution: Boston Children's Hospital

Grant Amount: $41,000

Funding Period: February 1, 2022 - January 31, 2023


Summary:

Neuroendocrine cell hyperplasia of infancy (NEHI) is a type of childhood lung disease that is very challenging to diagnose because of the lack of specific disease features. Clinical and radiologic features may overlap with other types of lung disease affecting children. Currently, clinicians rely on imaging with high-resolution chest computed tomography (HRCT) and/or tissue diagnosis by surgical lung biopsy in order to identify NEHI in patients who have suggestive clinical signs and symptoms. This diagnostic approach poses risks to the vulnerable pediatric population. HRCT exposes infants and children to potentially harmful ionizing radiation, and often requires sedation to obtain adequate images in younger children. There are also some concerns about the effects of general anesthesia on the developing brain. An additional problem is that HRCT scans are often not specific enough to be diagnostic of NEHI. Given the potential risks of exposure to radiation and anesthesia, and the limitations of HRCT interpretation, new diagnostic strategies are needed that provide insight into the pathophysiology of NEHI, ensure timely, safe and accurate diagnostic information, and improve patient care. High-resolution ventilation and perfusion MRI is new attractive alternative that overcomes the limitations and risks of HRCT and has the potential to provide improved diagnostic information. Thus, the main objective of this study is to prospectively investigate the technical feasibility and clinical utility of high-resolution ventilation and perfusion MRI in infants and young children with clinically suspected or confirmed NEHI.

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Determination of pathomechanisms and assessment of therapeutic strategies for Cohen Syndrome in patient derived cells and a murine model

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Spatial Transcriptomics to Identify Cellular Alterations in NEHI