Objective:To investigate whether deltoid ligament (DL) injury produces axial-plane rotational instability of the ankle in patients with chronic ankle instability (CAI).Methods:A retrospective study was conducted to analyze the 33 patients with CAI who had been treated at Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University between January 2023 and December 2024. The cohort consisted of 17 males and 16 females with an age of (31.5±9.9) years. The patients were assigned into 2 groups based on the presence of DL injury: a lateral chronic ankle instability (LCAI) group ( n=17) and a rotational ankle instability (RAI) group ( n=16). Barefoot natural walking trials were performed in all patients. Three-dimensional kinematic data were synchronously collected using an optical motion capture system (12 cameras) and force plates. A lower extremity model was constructed to obtain shank axial rotation (internal/external rotation) and rear-foot inversion/eversion angles. Continuous relative phase (CRP) analysis was employed to assess shank-rearfoot movement coupling. The mean absolute relative phase (MARP) and deviation phase (DP) were calculated. Results:There was no statistically significant difference in the clinical baseline data between the 2 groups, indicating comparability ( P>0.05). Throughout the gait cycle, no significant differences were found in shank rotation angles or rear-foot eversion angles between the RAI group and the LCAI group. However, CRP analysis revealed that during the early stance phase (initial contact and loading response), shank-rearfoot coupling was significantly lower in the RAI group than in the LCAI group. In the early stance phase, the CRP values in the RAI group were significantly higher than those in the LCAI group. The CRP curve changes in the RAI group were consistently higher in the standce phase of the entire gait cycle than those in the LCAI group, and the peak value of the CRP curve was larger in the RAI group. Concurrently, the RAI group exhibited significantly higher MARP and DP values than the LCAI group (27.48°±14.54° versus 15.21°±9.56°; 26.02°±11.73° versus 17.83°±9.82°) (both P<0.05). Conclusion:DL injury significantly damages the axial rotational stability of the ankle joint and significantly exacerbates the mechanical instability of the ankle joint in CAI patients.

Objective:To investigate whether deltoid ligament (DL) injury produces axial-plane rotational instability of the ankle in patients with chronic ankle instability (CAI).Methods:A retrospective study was conducted to analyze the 33 patients with CAI who had been treated at Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University between January 2023 and December 2024. The cohort consisted of 17 males and 16 females with an age of (31.5±9.9) years. The patients were assigned into 2 groups based on the presence of DL injury: a lateral chronic ankle instability (LCAI) group ( n=17) and a rotational ankle instability (RAI) group ( n=16). Barefoot natural walking trials were performed in all patients. Three-dimensional kinematic data were synchronously collected using an optical motion capture system (12 cameras) and force plates. A lower extremity model was constructed to obtain shank axial rotation (internal/external rotation) and rear-foot inversion/eversion angles. Continuous relative phase (CRP) analysis was employed to assess shank-rearfoot movement coupling. The mean absolute relative phase (MARP) and deviation phase (DP) were calculated. Results:There was no statistically significant difference in the clinical baseline data between the 2 groups, indicating comparability ( P>0.05). Throughout the gait cycle, no significant differences were found in shank rotation angles or rear-foot eversion angles between the RAI group and the LCAI group. However, CRP analysis revealed that during the early stance phase (initial contact and loading response), shank-rearfoot coupling was significantly lower in the RAI group than in the LCAI group. In the early stance phase, the CRP values in the RAI group were significantly higher than those in the LCAI group. The CRP curve changes in the RAI group were consistently higher in the standce phase of the entire gait cycle than those in the LCAI group, and the peak value of the CRP curve was larger in the RAI group. Concurrently, the RAI group exhibited significantly higher MARP and DP values than the LCAI group (27.48°±14.54° versus 15.21°±9.56°; 26.02°±11.73° versus 17.83°±9.82°) (both P<0.05). Conclusion:DL injury significantly damages the axial rotational stability of the ankle joint and significantly exacerbates the mechanical instability of the ankle joint in CAI patients.

Lithium batteries are widely used in energy storage, power, and other fields due to their advantages such as high performance and low cost. With the rapid development of the lithium battery industry, its production is constantly growing. However, the identification of occupational hazards and assessment of their health risks in lithium battery industry has rarely been reported. The composition of lithium batteries is complex and involves large numbers of compounds. Besides the traditional occupational hazards, workers may be exposed to many emerging chemicals throughout the production of raw materials, assembly and disassembly of lithium batteries. Therefore, this paper introduced the process chain of lithium battery production, analyzed the underlying occupational hazards in the industry, reviewed the health impacts of typical occupational hazards, and proposed the future research needs according to the current status of research on occupational exposure and health hazards in the lithium battery industry.

OBJECTIVE: To explore the clinical and genetic characteristics of a very early-onset inflammatory bowel disease (VEO-IBD) type 28 child with atypical clinical manifestations. METHODS: A VEO-IBD type 28 child with atypical clinical manifestations admitted to the Department of Neonatology, Children's Hospital Affiliated to Shandong University on November 5, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples of the child and his parents were collected for high-throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 50-day-old male, had manifested bronchitis, ulcerative stomatitis, eczema and slightly loose stool. High-throughput sequencing revealed that he has harbored compound heterozygous variants of the IL-10RA gene, namely c.299T>G (p.V100G) and c.301C>T (p.R101W), which were inherited from his father and mother, respectively. Bioinformatic analysis showed that both variants have been recorded in the HGMD database, though the c.299T>G variant has not been included in the gnomAD, 1000 Genomes, ExAC and ESP6500 databases, while the c.301C>T variant has a low population frequency. Both variants were predicted to be deleterious by the online software including SIFT, PolyPhen-2 and Mutation Taster. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PS3+PM2_Supporting+PP3). CONCLUSION The c.299T>G and c.301C>T variants of the IL-10RA gene probably underlay the VEO-IBD type 28 in this child. Above finding has expanded the phenotypic spectrum of VEO-IBD type 28 due to variants of the IL-10RA gene and provided a reference for the clinical diagnosis of this disease.
Humans ; Child ; Male ; Computational Biology ; Diarrhea ; Gene Frequency ; Inflammatory Bowel Diseases/genetics* ; Mutation

3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years,with the development of technology for screening inherited metabolic diseases,the number of children with 3-hydroxy-3-methylglutaric aciduria are increasing.The incidence of this disease is about 1 ∶ 100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper,the advances on pathogenesis,clinical manifestations,diagnosis and treatment of 3-hydroxy-3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.

Biotinidase deficiency is an autosomal recessive genetic disease with the decrease of biotinidase activity,which is caused by mutations of biotinidase gene.In recent years,with the development of genetic metabolic disease screening,biotinidase deficiency has been diagnosed constantly.Its incidence is about 1 ∶ 60 000 persons overseas and its clinical manifestations are complicated with high mortality and morbidity.In this paper,advances on pathogenesis,clinical manifestations,diagnosis and treatment of biotinidase deficiency will be reviewed.