Infantile multisystem neurologic-endocrine-pancreatic disease

Mutations in the genes encoding cytosolic aminoacyl-tRNA synthetases are responsible for early-onset multisystemic diseases including to varying degrees interstitial lung disease, liver damage, neurological and digestive disorders, and systemic inflammation. These are rare and severe diseases whose pathophysiology is poorly understood.
The investigative team hypothesizes that mutations within these genes are responsible for a decrease in protein translation and lead to a cellular stress response similar to that induced by amino acid deprivation. The investigative team also hypothesizes that these alterations could be corrected by high-dose supplementation in the culture medium of the corresponding amino acid.
The main objective of the study is to precisely determine the consequences of cytosolic aminoacyl-tRNA synthetase mutations at the cell level on protein translation.

Investigators propose hyperspectral imaging analysis as a method to distinguish the efficacy of hormone-combined cyclophosphamide therapy for PMN, and classify sensitive and insensitive patients treated with hormone-combined cyclophosphamide regimen. A variety of machine learning models were used to prove that hyperspectral imaging technology could assist patients in selecting the optimal treatment plan, and further explore the predictive indicators of PMN treatment effect.

We propose hyperspectral imaging analysis as a method to identify the efficacy of hormone-tacrolimus therapy for PMN, and to classify sensitive and insensitive patients treated with hormone-tacrolimus regimen. A variety of machine learning models were used to prove that hyperspectral imaging technology could assist patients in selecting the optimal treatment plan, and further explore the predictive indicators of PMN treatment effect.