Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.

INTRODUCTION: Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and poses a challenge to clinicians. METHODS: A foetus and a child from a 36-year-old pregnant woman with a birth history of abnormal children were enrolled in this study. Pregnant women undergo amniocentesis for prenatal diagnosis at the gestational age of 12+ 3 weeks. Chromosomal microarray (CMA) analysis and whole-exome sequencing (WES) were employed to investigate the chromosomal copy number and single gene variants. Literature retrieval and data analysis were performed for genotype and phenotype collection analysis. RESULTS: No chromosomal abnormalities or CNVs were detected in the entire family through karyotype and familial CMA analyses. WES identified a nonsense pathogenic variant in CLCN5 of the X chromosome, c.1942 C > T (exon 11, NM_000084), which was inherited from his mother, who exhibited regular clinical features. CONCLUSION: This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.

A Review of Nanofluids as Coolants for Thermal Management Systems in Fuel Cell Vehicles.

With the development of high-power fuel cell vehicles, heat dissipation requirements have become increasingly stringent. Although conventional cooling techniques improve the heat dissipation capacity by increasing the fan rotating speed or radiator dimensions, high energy consumption and limited engine compartment space prevent their implementation. Moreover, the insufficient heat transfer capacity of existing coolants limits the enhancement of heat dissipation performance. Therefore, exploring novel coolants to replace traditional coolants is important. Nanofluids composed of nanoparticles and base liquids are promising alternatives, effectively improving the heat transfer capacity of the base liquid. However, challenges remain that prevent their use in fuel cell vehicles. These include issues regarding the nanofluid stability and cleaning, erosion and abrasion, thermal conductivity, and electrical conductivity. In this review, we summarize the nanofluid applications in oil-fueled, electric, and fuel cell vehicles. Subsequently, we provide a comprehensive literature review of the challenges and future research directions of nanofluids as coolants in fuel cell vehicles. This review demonstrates the potential of nanofluids as an alternative thermal management system that can facilitate transition toward a low-carbon, energy-secure economy. It will serve as a reference for researchers to focus on new areas that could drive the field forward.

Effects of purifiers on the airborne transmission of droplets inside a bus.

During an airborne infectious disease outbreak, bus passengers can be easily infected by the dispersion of exhaled droplets from an infected passenger. Therefore, measures to control the transport of droplets are necessary, such as a mask or purifier. The current research examined aerosol transport in a bus with air-conditioning. To determine the dispersion path, deposition distribution, and droplet escape time, the computational fluid dynamics were used to predict the flow field and the dispersion of droplets considering the effects of droplet size, location of the infected person, and purifier type. In addition, based on the viability and the number of virus particles in a droplet, the total number of virus particles inhaled by passengers over a 4-h journey was obtained by the superposition method. The Wells-Riley equation was then used to assess the infection risk of the passengers in the bus cabin. The results showed that droplets with a size of 1-20 µm have essentially the same deposition characteristics, and the location of the infected passenger affects the distribution of droplets' transport and the effectiveness of a purifier in removing droplets. A purifier can effectively remove droplets from passengers' coughs and reduce the infection risk of passengers. The performance of the smaller purifiers is not as stable as that of the larger purifiers, and the performance is influenced by the airflow structure where the infected passenger is located.

Multi-Scale Microstructural Thermoelectric Materials: Transport Behavior, Non-Equilibrium Preparation, and Applications.

Considering only about one third of the world's energy consumption is effectively utilized for functional uses, and the remaining is dissipated as waste heat, thermoelectric (TE) materials, which offer a direct and clean thermal-to-electric conversion pathway, have generated a tremendous worldwide interest. The last two decades have witnessed a remarkable development in TE materials. This Review summarizes the efforts devoted to the study of non-equilibrium synthesis of TE materials with multi-scale structures, their transport behavior, and areas of applications. Studies that work towards the ultimate goal of developing highly efficient TE materials possessing multi-scale architectures are highlighted, encompassing the optimization of TE performance via engineering the structures with different dimensional aspects spanning from the atomic and molecular scales, to nanometer sizes, and to the mesoscale. In consideration of the practical applications of high-performance TE materials, the non-equilibrium approaches offer a fast and controllable fabrication of multi-scale microstructures, and their scale up to industrial-size manufacturing is emphasized here. Finally, the design of two integrated power generating TE systems are described-a solar thermoelectric-photovoltaic hybrid system and a vehicle waste heat harvesting system-that represent perhaps the most important applications of thermoelectricity in the energy conversion area.