[Clinical characteristics and genetic analysis of a child with Neutral lipid storage disease with myopathy].

OBJECTIVE: To explore the clinical phenotype and genetic basis of a child with Neutral lipid storage disease with myopathy (NLSDM). METHODS: A child who was admitted to the First Affiliated Hospital of Zhengzhou University in February 2021 for a history of elevated creatine kinase (CK) for over 2 months was selected as the study subject. Clinical and laboratory examinations were carried out, and the child was subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing of her family members. RESULTS: The patient, a 9-year-old female, had exhibited weakness in the lower limbs, elevated CK level, and refractory cardiomyotrophy. Genetic testing revealed that she has harbored c.32C>G (p.S11W) and c.516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene, which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PM1+PM2_Supporting+PP3+PP4). CONCLUSION: The c.32C>G (p.S11W) and c.516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene probably underlay the myasthenia gravis and elevated creatine kinase in this child.

Fenton-ultrasound treatment of corn stalks enhances humification during composting by stimulating the inheritance and synthesis of polyphenolic compounds-preliminary evidence from a laboratory trial.

The impact of Fenton-ultrasound treatment on the production of polyphenols and humic acid (HA) during corn stalk composting was investigated by analyzing the potential for microbial assimilation of polysaccharides in corn stalks to generate polyphenols using a13C-glucose tracer. The results showed that Fenton-ultrasound treatment promoted the decomposition of lignocellulose and increased the HA content, degree of polymerization (DP), and humification index (HI). The primary factor could be attributed to Fenton-ultrasound treatment-induced enhanced the abundance of lignocellulose-degrading microorganisms, as Firmicutes, Actinobacteria phylum and Aspergillis genus, which serve as the primary driving forces behind polyphenol and HA formation. Additionally, the utilization of a13C isotope tracer revealed that corn stalk polysaccharide decomposition products can be assimilated by microbes and subsequently secrete polyphenolic compounds. This study highlights the potential of microbial activity to generate phenolic compounds, offering a theoretical basis for increasing polyphenol production and promoting HA formation during composting.

Flexible manipulation terahertz beam based on an all-dielectric metasurface by utilizing addition and convolution algorithms.

The flexibly manipulated terahertz wave is currently a hot research topic. To address this challenge, we proposed an all-dielectric coding metasurface for shaping the terahertz wave including beam splitting, beam deflection, vortex beam generators, and a vortex beam and multi-beam splitting combination by combining addition with the convolution theorem. This work represents what we believe to be a new method of combining terahertz wave regulation with digital signal processing and opens up the versatile design ideas of multifunctional metadevices.

Frequency regulated transmission-reflection integration modes of a terahertz metasurface.

The conventional transmission and reflection operating mode switching metasurface depends on phase change materials, which are often difficult to integrate with metasurface devices and work in real time. Here, we propose an integration of a transmission-reflection metasurface that can dynamically control beam direction and functions in both transmission and reflection modes by varying the frequency of the incident wave. Remarkably, the transmission and reflection modes of terahertz beam manipulation can be obtained by illuminating only the transmission side of the metasurface. The full-wave simulation results are in good agreement with the theoretically calculated results, which verifies the terahertz wave manipulation capability of the proposed structure. This metasurface provides a design method for full-space terahertz beam regulation devices.

Bidirectional Terahertz Vortex Beam Regulator.

Most of the reported vortex beam generators with orbital angular momentum (OAM) in the terahertz region only operate in either the reflection mode or the transmission mode, which greatly limits the integration and application in terahertz technology systems. Herein, we propose a full-space vortex beam regulator at two different frequencies. By changing the VO2 phase transition state, the transmission and reflection mode OAM beams can be flexibly controlled by a single metasurface. For the transmission mode, the proposed structure realizes an OAM beam at the topological charges of l = 1 and 2 at 0.6 THz and 1.4 THz. For the reflection mode, our structure generates an OAM beam at the topological charges of l = 1 and 2 at 0.9 THz and 1.5 THz. Based on the superposition theorem and convolution operation principle, the regulation of an OAM vortex beam with a specific deflection angle and a symmetrical deflection OAM vortex beam are realized. The designed metasurface integrates multiple transmitted and reflected vortex beam functions in full space and has potential application in different terahertz systems.