Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.

Background: In children with West syndrome (WS), whose treatment is challenging due to drug resistance and poor prognosis, investigation of genetic etiology and genotype-phenotype characteristics might assist in treatment optimization and genetic counseling.

Objective: In this study, we aimed to present the results of genetic analysis and the corresponding phenotypes in a cohort of twenty children with WS in Vietnam.

Methods: Our study was designed as a single-institution retrospective case series, in which consecutive sampling was used to select WS children having undergone genetic testing.

Mutation spectrum of gene in pediatric patients with Wilson disease in Vietnam.

Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the gene. In this study, we screened and identified the mutations among unrelated Vietnamese pediatric patients.

Methods: One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited.

De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy.

Variants in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and they are generally heterozygous. Here, we report a homozygous missense variant, NM_001165963.4: c.

High-pressure SANS and fluorescence unfolding study of calmodulin.

Apo-calmodulin, a small soluble mainly α protein, is a calcium-dependent protein activator. Calcium binding affects the calmodulin conformation but also its stability. Calcium free form unfolds between 40 and 80°C, whereas the calcium-saturated form is stable up to temperatures as high as 100°C, forbidding comparison of the thermal unfolding pathways of the two forms.

Simplifying cellulase production by using environmental selection pressures and recycling substrate.

The production of crude cellulase in solid-state fermentation was simplified by using environmental selection pressures as an alternative to specialized strains and by re-using cellulose-to-ethanol fermentation substrate for cellulase production. The performance of wild strains of Trichoderma viride isolated from wheat and bark were found not to differ significantly from a 'cellulase-enhanced' strain of Trichoderma reesei. The filter paper activity of a strain of Aspergillus niger isolated in the laboratory was more than two times higher than the specialized T.