Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

BackgroundAlport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS.Case presentationThe proband was a 12-year-old boy diagnosed with AS coexisting with WD at the age of 11 years. The patient underwent a medical check-up when he was 4 years and 8 months. Laboratory tests revealed elevated liver enzymes, decreased serum ceruloplasmin, increased 24-h urinary copper excretion, and one variant in the ATP7B gene. Then, the patient was diagnosed with WD. After 2 months of treatment with D-penicillamine and zinc salt, his liver function had recovered to normal levels, but he presented with microscopic hematuria. The hematuria did not resolve after switching to dimercaptosuccinic acid from D-penicillamine. In addition, he presented with proteinuria 3 years later. A renal biopsy was performed more than 6 years after the patient was diagnosed with WD, and electron microscopy showed that the basement membrane thickness was uneven, layered, and focal torn. Copper staining was negative. A genetic analysis identified a hemizygous variant (c.1718G > A, p. Gly573Asp) in COL4A5 and a homozygous variant (c.2975C > T, p. Pro992leu) in ATP7B. The patient’s urine protein–creatinine ratio was less than 1.0 mg/mg after a 1 year of follow-up, after enalapril was administered for treating AS.ConclusionThis case highlights a lack of improvement in renal function after conventional treatment provides a possible indication for performing renal biopsy or genetic testing to determine the etiology in order to facilitate subsequent clinical management. Clinicians should prevent the occurrence of diagnostic inaccuracies caused by diagnostic anchoring because an accurate diagnosis is essential for achieving precise treatment and improved prognosis

Bioinspired Sea-sponge Nanostructure Design of Ni/Ni(HCO3)2-on-C for Supercapacitor with Superior Anti-fading Capacity

Rational design of novel structures plays a key role to achieve high specific capacities and fast charge rates with a long cycling life for battery-type electrodes of supercapacitors. To tackle capacity fading issues of battery-type electrode materials for supercapacitors, a new approach is proposed to form a bioinspired sea-sponge nanostructure of Ni/Ni(HCO3)2-on-C, synthesized through modifying triangle nanoflakes of Ni(HCO3)2 with partially in-situ reduced Ni generated on sea-sponge-like porous carbon spheres (S-PCSs). The conductive skeleton of S-PCSs facilitates fast electron transfer and ion diffusion, and maintains the morphology of Ni(HCO3)2 triangle nanoflakes to ensure a high specific capacity of Ni/Ni(HCO3)2 nanoflakes. Simultaneously the in-situ reduced Ni acts as capacity reservoirs to prevent the fading of the specific capacity. When applied as a positive electrode material, such sea-sponge nanostructures of Ni/Ni(HCO3)2-on-C exhibit a high specific capacity (472 mAh g-1) with a good rate capability (66% capacity retention at 32 A g-1 vs 8 A g-1), superior reversibility and cyclability (92% capacity retention after 10,000 cycles). An asymmetric supercapacitor based on Ni/Ni(HCO3)2-on-C//S-PCSs shows a high energy density of 51.3 Wh kg-1 at a power density of 4 kW kg-1 with a capacitance retention of 89.6% over 6,000 cycles

Recognition of Car Front Facing Style for Machine-Learning Data Annotation: A Quantitative Approach

Car front facing style (CFFS) recognition is crucial to enhancing a company’s market competitiveness and brand image. However, there is a problem impeding its development: with the sudden increase in style design information, the traditional methods, based on feature calculation, are insufficient to quickly handle style analysis with a large volume of data. Therefore, we introduced a deep feature-based machine learning approach to solve the problem. Datasets are the basis of machine learning, but there is a lack of references for car style data annotations, which can lead to unreliable style data annotation. Therefore, a CFFS recognition method was proposed for machine-learning data annotation. Specifically, this study proposes a hierarchical model for analyzing CFFS style from the morphological perspective of layout, surface, graphics, and line. Based on the quantitative percentage of the three elements of style, this paper categorizes the CFFS into eight basic types of style and distinguishes the styles by expert analysis to summarize the characteristics of each layout, shape surface, and graphics. We use imagery diagrams and typical CFFS examples and characteristic laws of each style as annotation references to guide manual annotation data. This investigation established a CFFS dataset with eight types of style. The method was evaluated from a design perspective; we found that the accuracy obtained when using this method for CFFS data annotation exceeded that obtained when not using this method by 32.03%. Meanwhile, we used Vgg19, ResNet, ViT, MAE, and MLP-Mixer, five classic classifiers, to classify the dataset; the average accuracy rates were 76.75%, 78.47%, 78.07%, 75.80%, and 81.06%. This method effectively transforms human design knowledge into machine-understandable structured knowledge. There is a symmetric transformation of knowledge in the computer-aided design process, providing a reference for machine learning to deal with abstract style problems

Fault Estimation Method for Nonlinear Time-Delay System Based on Intermediate Observer-Application on Quadrotor Unmanned Aerial Vehicle

In this paper, the problem of actuator and sensor faults of a quadrotor unmanned aerial vehicle (QUAV) system is studied. In the system fault model, time delay, nonlinear term, and disturbances of QUAV during the flight are considered. A fault estimation algorithm based on an intermediate observer is proposed. To deal with a single actuator fault, an intermediate variable is introduced, and the intermediate observer is designed for the system to estimate fault. For simultaneous actuator and sensor faults, the system is first augmented, and then two intermediate variables are introduced, and an intermediate observer is designed for the augmented system to estimate the system state, faults, and disturbances. The Lyapunov–Krasovskii functional is used to prove that the estimation error system is uniformly eventually bounded. The simulation results verify the feasibility and effectiveness of the proposed fault estimation method

The Role of Al₄C₃ Morphology in Tensile Properties of Carbon Fiber Reinforced 2024 Aluminum Alloy during Thermal Exposure

The aluminum alloy drill pipe suffers long-term high-temperature conditions during ultra-deep well drilling. In this paper, the samples were prepared by vacuum hot pressing, followed by hot extrusion and T6 heat treatment. The mechanical properties of short carbon fiber reinforced 2024 aluminum alloy composites (SCFs/2024 Al) and the microstructure evolution at the interface region thermal exposure at 160 °C for 500 h are discussed. The experimental results showed that the effect of short carbon fiber on 2024 aluminum alloy remained steady throughout the whole process of the heat exposure experiment. The distribution and volume of interface products (Al4C3) changed with the prolonging of heat exposure time, and connected after coarsening. The evolution of the morphology of Al4C3 relieved the stress of the interface between carbon fiber and aluminum alloy matrix and enhanced the mechanical properties of the composite

Isocyanate Formation from Reactions of Early Lanthanide Metal Atoms with NO and CO in Solid Argon

The reactions of early lanthanide metal atoms (Ce, Pr, and Nd) with carbon monoxide and nitric oxide mixtures are studied by infrared absorption spectroscopy in solid argon. The reaction intermediates and products are identified via isotopic substitution as well as theoretical frequency calculations. The results show that the reactions proceed with the initial formation of inserted NLnO molecules, which subsequently react with CO to form the NLnO­(CO) complexes on annealing. The NLnO­(CO) complexes further isomerize to the more stable isocyanate OLnNCO species under UV light excitation