No abstract

Direct detecting of trace amount Al(III) in aqueous solution by stripping voltammetry is often frustrated by its irreversible reduction, resided at −1.75 V (vs. Ag/AgCl reference), which is in a proximal potential of proton reduction. Here, we described an electroanalytical approach, combined with liquid phase microextraction (LPME) using ionic liquid (IL), to quantitatively assess trace amount aluminum in environmental samples. The Al(III) was caged by 8-hydroxyquinoline, forming a superb hydrophobic metal–chelate, which sequentially transfers and concentrates in the bottom layer of IL-phase during LPME. The preconcentrated Al(III) was further analyzed by a square-wave anodic stripping voltammetry (SW-ASV). The resulting Al-deposited electrodes were characterized by scanning electron microscopy and powder X-ray diffraction, showing the intriguing amorphous nanostructures. The method developed provides a linear calibration ranging from 0.1 to 1.2 ng L−1 with a correlation coefficient of 0.9978. The LOD attains as low as 1 pmol L−1, which reaches the lowest report for Al(III) detection using electroanalytical techniques. The applicable methodology was implemented for monitoring Al(III) in commercial distilled water.

Background: Phelan-McDermid syndrome is a rare genetic disorder resulting from heterozygous deletion of 22q13.3 with the involvement of at least part of SHANK3 or a heterozygous pathogenic variant in SHANK3. We would like to explore the possible pathogenesis and therapeutic direction of PMS.Methods: We identified a child who harbored a de novo SHANK3 gene mutation and had a speech delay and mental retardation. This pathogenic mutation (c.3679dup, p.A1227Gfs*69) may lead to early termination of protein transcription and is speculated to cause changes in protein function. The gene expression profiles of family members were evaluated by RT-PCR, which showed that SHANK3 expression was significantly lower in the child than in the other family members. The sites of pathogenic and likely pathogenic mutations in the SHANK3 gene reported by ClinVar were searched, and the mutation sites were summarized and marked. Results: The relevant literature was reviewed to understand the current state of research progress and possible future treatment directions. Researchers have found that CDPPB is a potent and selective positive allosteric modulator of mGluR5. In addition, it is important to further study whether NMD is involved in the expression of SHANK3 and to further investigate PTCs.Conclusions: Genetic testing is essential for children with development delay. It’s necessary to do further research about the therapeutic direction.