A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family.

Background: Cockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis. we present the cases of two patients who exhibited distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.

Methods: Clinical information pertaining to the patient's family was collated and the Pedigree chart was drawn.

Multi-Objective Optimization of Injection Molding Process Parameters for Junction Boxes Based on BP Neural Network and NSGA-II Algorithm.

Many factors affect the quality of the injection molding of plastic products, including the process parameters, mold materials, type and geometry of plastic parts, cooling system, pouring system, etc. A multi-objective optimization method for injection molding process parameters based on the BP neural network and NSGA-II algorithm is proposed to address the problem of product quality defects caused by unreasonable process parameter settings. Taking the junction box shell as the object, numerical simulation was carried out using Moldflow2019 software and a six-factor five-level orthogonal experiment was designed to explore the influence of injection molding process parameters, such as the mold temperature, melt temperature, injection pressure, holding pressure, holding time, and cooling time, on the volume shrinkage rate and warpage deformation of the junction box.

Case report and functional verification of a novel mutation in the interferon regulatory transcription factor 6 gene in a family with orofacial clefts.

Background: This study aimed to identify the causative genetic variant in a Chinese family with orofacial clefts.

Methods: We retrospectively analyzed the clinical information of a family with orofacial clefts. Then, we performed an etiological genetic analysis of the family using whole exome sequencing analysis and Sanger sequencing.

A Type of Ferrocene-Based Derivative FE-1 COF Material for Glycopeptide and Phosphopeptide Selective Enrichment.

In this work, a new type of FE-1 COF material is prepared by a reversible imine condensation reaction with diaminoferrocene and diaminodiformaldehyde as materials. The material is connected by imine bonds to form a COF skeleton, and the presence of plenty of nitrogen-containing groups gives the material good hydrophilicity; the presence of metal Fe ions provides the material application potential in the enrichment of phosphopeptides. According to the different binding abilities of N-glycopeptide and phosphopeptide on FE-1 COF, it can simultaneously enrich N-glycopeptide and phosphopeptide through different elution conditions to realize its controllable and selective enrichment.

Prediction of Fracture Behavior of 6061 Aluminum Alloy Based on GTN Model.

To determine the Gurson-Tvergaard-Needleman (GTN)damage model parameters of 6061 aluminum alloy after secondary heat treatment, the uniaxial tensile test was carried out on the aluminum alloy circular arc specimen, and the mechanical properties parameters and the load-displacement curve of aluminum alloy tube were obtained. With the help of the finite element reverse method, scanning electron microscope and a orthogonal test method, the GTN damage model parameters (, , , and ) were calibrated, and their values were 0.004535, 0.

Missense mutation in gene caused psychomotor developmental delay and muscle weakness: A case report.

Background: The gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED). The incidence of the disease is low, and it is difficult to diagnose, especially in children. Here, we report a case of gene mutation and review the related literature to improve the pediatrician's understanding of gene-related disease to make an early correct diagnosis and provide better services for children.

Core-shell magnetic microporous covalent organic framework with functionalized Ti(iv) for selective enrichment of phosphopeptides.

Selective, sensitive and efficient phosphopeptide enrichment is significant in understanding phosphorylation-regulated processes and finding potential biomarkers. Magnetic materials have significant advantages for the separation and enrichment of modified peptides and proteins. In this work, we fabricated a core-shell magnetic Ti4+-functionalized covalent organic framework composite (denoted as Fe3O4@SiO2@TpPa-Ti4+) to selectively capture phosphopeptides in biosamples.

Facile synthesis of layered mesoporous covalent organic polymers for highly selective enrichment of N-glycopeptides.

Hydrophilic interaction liquid chromatography is a significant strategy for the separation and enrichment of glycoproteins and glycopeptides. A layered imine-based covalent organic polymer with mesopores (denoted as p-TpBDH) was successfully fabricated by a facile solvothermal method. Then p-TpBDH-OH with abundant hydrophilic groups was evolved from p-TpBDH by the direct reduction.