Novel heterozygous variant of ADPRHL2 causes pathogenic variation in CONDSIAS

Adprhl2 (OMIM: 610624) mutation associated stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 618170) is a sporadic neurodegenerative disease with poor prognosis. ADPRHL2 encodes ADP-ribosylhydrolase 3 (ARH3), which participates in ADP-ribosylation to remove poly-ADP ribose (PAR). We found a new compound heterozygous mutation in the ADPRHL2 gene c.580C > T (p.Gln194Ter) and c.803-1G > A in a 30-month-old boy, who showed gait instability, abnormal EEG, and developmental delay after respiratory infection. He died of convulsions 4 months after onset. By constructing a mutant plasmid and using Western blot to detect the expression of ARH3 and PAR, it was demonstrated that the ADPRHL2 gene c.580C > T (p.Gln194Ter) and c.803-1G > A is pathogenic according to ACMG guidelines

Comparative study of surface properties determination of colored pearl-oyster-shell-derived filler using inverse gas chromatography method and contact angle measurements

Mollusk shells, such as clam, mussel, oyster and pearl oyster shells, are potential candidates for commercial calcium carbonate-based fillers. In this work, the surface properties of colored pearl-oyster-shell-derived filler (CMF) were investigated with comparison to those of pearl oyster shell powder (MSP), using an inverse gas chromatography (IGC) method and contact angle measurements. A developed computational model for the interpretation of surface free energy heterogeneity distributions was applied to both samples. The contact angle measurements revealed an amphiphilic nature. The dispersion component of surface free energy for both samples calculated using the Owens–Wendt–Kaelble (OWK), van Oss–Chaudhury–Good (vOCG) and Wu methods were consistent with those determined using the IGC method. The deconvolution of surface energetic sites confirmed their energetic heterogeneity. The CMF displayed lower work of cohesion, which could be beneficial to the fabrication of polymer composites, as typically reduced filler particle-particle interactions would result.National Natural Science Foundation of China (Grant nos. 51606055 and 41373121) and Zhejiang Provincial Natural Science Foundation of China (Grant no. LY14D010009)info:eu-repo/semantics/publishedVersio