Yingtong Xu

Context: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by impaired cortisol and aldosterone synthesis. While genotype-phenotype correlations are well-established for common CYP21A2 mutations, the clinical significance of rare missense variants remains a challenge, often leading to their classification as Variants of Uncertain Significance (VUS) and complicating genetic counseling.

Abstract The rapid and accurate diagnosis of cancer is an important topic in clinical medicine. In the present work, an innovative method based on laser-induced breakdown spectroscopy (LIBS) combined with machine learning was developed to distinguish and classify different tumor cell lines. The LIBS spectra of cells were first acquired. Then, the spectral pre-processing was performed as well as detailed optimization to improve the classification accuracy.