A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.

Heterozygous transmembrane protein 63A (TMEM63A) variants cause transient infantile hypomyelinating leukodystrophy-19, which features remarkable natural resolution of clinical and imaging findings during childhood. Previous reports have mainly described de novo variants lacking detailed familial cases. Herein, we describe the clinical course of familial cases with a TMEM63A variant.

Solid-phase fluorescence: Reproducibility and comparison with the solution states.

Solid-phase fluorescence excitation-emission matrix (SPF-EEM) spectroscopy has potential for non-extractive, non-destructive, and non-contact analytical measurements of powder and solid-state samples, as well as front-face EEM spectroscopy for suspensions of high optical density. However, as there is no unified measurement method for SPF spectroscopy, comparing samples measured in different research fields is difficult. Therefore, this study designs a cell that can be created by a 3D printer and examines reproducibility on measuring fluorescent powders.

Quantification of organic fluorophores in absorbing media by solid-phase fluorescence excitation-emission matrix (SPF-EEM) spectroscopy of modeled mixtures containing bovine serum albumin (BSA) and colorants.

Solid-phase fluorescence excitation-emission matrix (SPF-EEM) spectroscopy is beneficial for investigating the characteristics of natural organic matter (NOM) in the solid phase without extraction procedures. However, inner filter effect (IFE) due to the presence of dark components in samples can make it difficult to quantify the fluorophore concentration. To establish a new method to determine unknown concentrations of a fluorescent material in a sample containing various absorbing materials by SPF spectroscopy, modeled mixtures containing bovine serum albumin (BSA) and colorants at different ratios were examined.