Search

Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurological disorders. Herein, we present the case of a Japanese girl with a mutation in the STXBP1 gene, who was born at 40 weeks without neonatal asphyxia. At 15 days old, she developed epilepsy and generalized seizures. Around 88 days old, she presented with a series of nodding spasms, with the seizure frequency gradually increasing. Interictal EEG indicated hypsarrhythmia and she presented with developmental regression. At 1.5 years old, genetic testing was performed and mutational analysis revealed an STXBP1 gene mutation (c.875G > A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome's clinical characteristics caused by the STXBP1 gene mutation. Although drug treatment has reduced the frequency of epileptic seizures, her development has remained regressive. The relationship between the location and type of genetic abnormality and the phenotype remains unclear. Future studies should investigate the genotype–phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors. [ABSTRACT FROM AUTHOR]

Tongue diagnosis is a noninvasive diagnosis and is traditionally one of the most important tools for physicians who practice Kampo (traditional Japanese) medicine. However, it is a subjective process, and its results can depend on the experience of the physician performing it. Previous studies have reported how to measure and evaluate the shape and color of the tongue objectively. Therefore, this study focused on the glossy component in order to quantify tongue moisture in tongue diagnosis. We hypothesized that moisture appears as a gloss in captured images and measured the amount of water on the tongue surface in 13 subjects. The results showed a high correlation between the degree of gloss and the amount of water on the tongue surface and suggested that the moisture on the tongue can be estimated by the degree of gloss in a captured image. Because the moisture level on the tongue changes during the course of taking photos, it became clear that we had to wait at least 3 minutes between photos. Based on these results, we established the tongue image analyzing system (TIAS), which can consistently record the gloss and color of the tongue surface simultaneously. [ABSTRACT FROM AUTHOR]