Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases were mainly from Saudi Arab regions, and presented with relatively simple clinical course because of the hot spot mutation (T422A). Rare Chinese cases were described until now. In this study, we investigated 18 Chinese THMD2 patients with variable phenotypes, and identified 23 novel SLC19A3 mutations, which expanded the genetic and clinical spectrum of the disorder. Meanwhile, we reviewed all 146 reported patients from different countries. Approximately 2/3 of patients presented with classical BTBGD, while 1/3 of patients manifested as much earlier onset and poor prognosis, including infantile Leigh-like syndrome, infantile spasms, neonatal lactic acidosis and infantile BTBGD. Literature review showed that elevated lactate in blood and CSF, as well as abnormal OXPHOS activities of muscle or skin usually correlated with infantile phenotypes, which indicated poor outcome. Brainstem involvement on MRI was more common in deceased cases. Thiamine supplementation is indispensable in the treatment of THMD2, whereas combination of biotin and thiamine is not superior to thiamine alone. But biotin supplementation does work in some patients. Genotypic-phenotypic correlation remains unclear which needs further investigation, and biallelic truncated mutations usually led to more severe phenotype.

Physical stabilities of taro starch nanoparticles stabilized Pickering emulsions and the potential application of encapsulated tea polyphenols.

In this research, Pickering emulsion stabilized by taro starch nanoparticles was successfully prepared, and the potential application of encapsulating tea polyphenols was investigated. The nanoparticle size (about 460 nm) and contact angle (81.5°) of taro starch indicate that it is suitable for adsorbing on the oil-water interface and forming a dense interfacial layer. Emulsion stability at different particle concentrations, oil-water ratios, and sodium chloride concentrations has been systematically studied. By considering the particle size, zeta potential, and stability index of Pickering emulsion, it is considered that the emulsion has the best stability when the particle concentration is 7% and the oil fraction is 0.5. Low concentration of salt ions (0.04 mM NaCl) will cause a slight flocculation to improve the stability, but adding high concentration of salt will make emulsion break. In addition, we found that this Pickering emulsion could encapsulate the tea polyphenols greatly with a retention rate of up to 67%. The findings may have great significance for the design and fabrication of native starch particle stabilized emulsion.