Whole exome sequencing and cluster analysis reveal that <i>EPB41L4A</i> mutation may trigger tooth agenesis

by Tian-Qi Li, Qin Zhang, Hui-Juan Wang, Zhao-Feng Ma, Bing-Yu Lu, Ke-Gui Hou, Xiang-Yu Zhang

Objective

To detect and analyze the correlation between commonly mutated genes and known genes associated with tooth agenesis in patients with non-syndromic tooth agenesis. The aim is to explore new genes that may be associated with tooth agenesis, to provide a genetic reference for its prevention as well as for the clinical diagnosis and treatment of tooth agenesis.

Methods

Genomic DNA was extracted from the peripheral blood of 18 congenitally edentulous subjects, and related gene mutations were identified by whole-exome sequencing. The genes related to maxillofacial development and the known pathogenic gene sequences of congenital tooth agenesis were selected for local alignment analysis of pairwise sequences, and the metric relationship of related sequences was determined. Hierarchical and fuzzy clustering methods were used for cluster analysis.

Results

Hierarchical clustering and fuzzy clusterings yielded consistent results. The EPB41L4A gene clustered with a large number of well-known and well-defined genes associated with tooth agenesis. From the perspective of cluster analysis, it can be inferred that the genes clustered together generally have similar functions.

Conclusion

EPB41L4A, which is involved in the Wnt pathway, may be a candidate gene warranting further investigation.

Research on fire scenario analysis and emergency response strategies for L-shaped buildings using FDS

by Qin Zhang, Yuhong Hu, Xiaoju Li

With the rapid development of information and communication technologies, modern fire rescue models are evolving towards informatization, proactivity, and spatialization. Existing fire simulation models primarily focus on the impact of individual building parameters, lacking a systematic analysis of the multi-factor coupling effects on fire spread. As a result, it is difficult to accurately predict the trend of fire spread and meet the demands of dynamic escape routes for three-dimensional rescue systems. In this study, a typical L-shaped building was used as the research object, and a parameterized fire scenario database was constructed using the FDS (Fire Dynamics Simulator) fire simulation software, combined with experimental data for multi-factor coupling analysis. By simulating various factors such as initial fire locations (stairwell or corridor corner), floor height of ignition (low/mid/high area), and wind direction, this study systematically reveals the dynamic evolution process of smoke diffusion and the spatial distribution characteristics and interaction mechanisms of fire smoke in indoor and outdoor three-dimensional spaces. It also focuses on the time-dependent variations of smoke propagation in indoor escape routes, staircases, and external walls. The results indicate that the L-shaped building causes asymmetric smoke diffusion. The fire spread mode is a result of multi-factor coupling effects at the fire scene. Safe evacuation decisions are directly related to fire spread characteristics, smoke diffusion paths, the location of trapped individuals, fire alarm occurrence time, and rescue methods. Minor changes in each parameter can lead to significant differences in evacuation outcomes. Based on the situation at the site, generating real-time, dynamic escape paths is a crucial guarantee for improving rescue efficiency and success rates. The findings provide scientific support for the design and optimization of human-machine collaborative rescue systems and offer a data foundation for fire risk assessment and emergency response planning.

Concurrent Trajectories of Depressive Symptoms and Insomnia and Influencing Factors in Adolescents

ABSTRACT

Objective

To explore the concurrent trajectories of depressive symptoms and insomnia among adolescents and to analyse the individual, familial and social predictors of the concurrent trajectories.

Study Design

This study tracked depressive symptoms and insomnia in eight secondary schools annually from 2021 to 2023. We also collected data on individual, familial and social factors that may influence these conditions. Group-based multi-trajectory (GBMT) modelling was used to categorise adolescents into depressive–insomnia severity subgroups.

Result

This study included 2822 adolescents, who were categorised into four groups, including the no symptom group, mild symptom group, symptom relief group and symptom increase group. Compared with the no symptom group, predictors of the mild symptom group were gender (OR = 1.30), academic performance (OR = 1.57), subjective well-being (OR = 0.78), anxiety (OR = 1.14), economic status (OR = 1.23) and relationship with teachers (OR = 1.46). Predictors of the symptom relief group were personality (OR = 1.75), academic performance (OR = 2.28), subjective well-being (OR = 0.69) and anxiety (OR = 1.25). Predictors of the symptom-increasing group were personality (OR = 2.45), academic performance (OR = 1.96), subjective well-being (OR = 0.69), anxiety (OR = 1.20), maternal education level (OR = 1.58), family function (OR = 0.93), parental relationship (OR = 2.07) and relationship with teachers (OR = 1.54).

Conclusion

This study provided a comprehensive understanding of the concurrent trajectories of depressive symptoms and insomnia among adolescents, revealing distinct subgroups and identifying predictors across individual, familial and social levels.

Implications for Patient Care

This study emphasises the importance of a multi-faceted approach involving family, school and society to promote adolescent mental health and also highlights the need for conducting precise interventions according to adolescents' features.

Impact

The identification of four distinct symptom trajectories and their predictors advances the understanding of adolescent mental health development, informing precision prevention strategies.

Reporting Method

STROBE checklist.

Patient or Public Contribution

None.

Brachydactyly type A3 may be associated with shorter stature: An observation from a Chinese pediatric sample

by Hua-Hong Wu, Ya-Qin Zhang, Cheng-Dong Yu, Fang-Fang Chen, Jun-Ting Liu, Shao-Li Li, Xin-Nan Zong

Background

Brachydactyly type A3 (BDA3), a common finger deformity, demonstrates an inverse epidemiological relationship with population height, suggesting a potential link with individual stature. We aimed to investigate the distribution of BDA3 and its association with shorter stature in Chinese children.

Methods

From 2022 to 2023, we conducted a cross-sectional survey in 10 randomly selected schools in Beijing with children aged 3–18. We measured height on-site, obtained left hand-wrist X-rays, calculated predicted adult height (PAH) based on height and bone age, and diagnosed BDA3 deformity based on the X-ray images. And we compared the height and PAH between the BDA3 and Non-BDA3 groups by t-test or chi-square test, examined the association of BDA3 with shorter stature and shorter PAH using binary logistic regression model.

Results

A total of 5,567 children participated, with 573 diagnosed with BDA3 (a detection rate of 10.3%). Notably, girls exhibited a significantly higher detection rate than boys (14.5% vs. 6.3%). The detection rate in children  12 years(15.3% vs. 7.6%). The average height and PAH were 0.30 SD and 0.22 SD lower, and the risk of shorter stature and shorter PAH were 1.57 times and 1.47 times higher in the BDA3 group than in the Non-BDA3 group, respectively. And, children >12 years in the BDA3 group had a significantly lower PAH than those in the Non-BDA3 group (about 2.0 cm). Conclusion: Children with BDA3 are more likely to have shorter stature and shorter PAH than those with no BDA3 in Chinese children aged 3–18 years.