OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with Hereditary spastic paraplegia type 3A (SPG3A) and the genotype-phenotype correlation. METHODS: A three-generation pedigree presented at Huantai Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Whole-exome sequencing (WES) and pedigree analysis was carried out. Candidate variant was validated by Sanger sequencing of the members from the pedigree. Haplotype analysis was used to trace the origin of the variant, and pathogenicity was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-12). RESULTS: A c.1024C>T (p.Pro342Ser) variant of the ATL1 was identified in the four affected members, including the proband, but none of the three unaffected relatives. Haplotype analysis suggested that the variant was derived from the proband's mother and has co-segregated with the disease phenotype. Based on the guidelines of the ACMG, it was classified as likely pathogenic. CONCLUSION The ATL1 c.1024C>T (p.Pro342Ser) variant probably underlay the pathogenesis in this pedigree. Above finding has enriched the mutational spectrum of ATL1 and phenotypic spectrum of SPG3A in the Chinese population, and enabled genetic counseling for this pedigree.
Humans ; Pedigree ; Spastic Paraplegia, Hereditary/genetics* ; Male ; Female ; Asian People/genetics* ; Adult ; Haplotypes ; Membrane Proteins/genetics* ; Exome Sequencing ; GTP-Binding Proteins/genetics* ; Mutation ; Middle Aged ; China ; Genetic Association Studies ; East Asian People

Chaihu Guizhi Ganjiangtang （CGG）is a classic prescription in the Treatise on Cold Damage，which has the effects of clearing and relieving stagnation heat in Shaoyang，warming and dissolving water drink，and relieving the pivot mechanism. It is a classic prescription for treating spleen deficiency and liver depression and stopping internal stagnation caused by water drink. The formula is exquisite and well-matched and is often modified and used by ancient and modern medical practitioners to treat various miscellaneous diseases of internal and external medicine，with significant therapeutic effects. In recent years，with the rapid development of modern pharmacology，research on the micro mechanism of CGG has been continuously developed and deepened，providing new ideas for the treatment of diseases with CGG. Therefore，the authors systematically searched databases such as China National Knowledge Infrastructure，Wanfang Data Knowledge Service Platform，VIP Database， and PubMed for literature on the clinical application and pharmacological mechanism of CGG published by Chinese and foreign scholars in recent years. This article summarized the literature from two aspects：the modern clinical application and mechanism of action of CGG and elaborated on the diseases treated by CGG in modern literature，involving digestive system，respiratory system，nervous system，endocrine system，circulatory system，urinary system，gynecology，as well as its application in reducing the side effects of radiotherapy and chemotherapy， gynecology， dermatology， ophthalmology， and orthopedics. At the same time，the mechanism of CGG in treating diseases may be related to anti-inflammatory，anti-oxidative stress， regulation of immunity， anti-fibrosis， anti-tumor， improvement of gastrointestinal flora and motility， protection of liver tissue， reduction of blood lipids and blood sugar， and regulation of hormone levels.

Objective To explore the applicability of four risk assessment methods in evaluating occupational health risks associated with low-level benzene homologues exposure in key work sites within the automobile manufacturing industry. Methods The work sites (paint mixing and spray painting) with exposure to benzene homologues among six automobile manufacturing enterprises in Guangdong Province were selected as the study subjects using the judgmental sampling method. Qualitative risk assessment, exposure index method, non-carcinogenic risk assessment, and the International Council on Mining and Metals risk rating method were independently applied to evaluate the occupational health risks of benzene homologues at these work sites. Accuracy, consistency, and correlation of the four methods were compared. Results The air levels of benzene, toluene, xylene, and ethylbenzene in work sites of paint mixing and spray painting across all six enterprises met national occupational health standards. The median ratios of occupational exposure limits for benzene and toluene in spray painting site were higher than those in paint mixing site (0.017 vs 0.010, P<0.05). Using this ratio as a reference for evaluating method accuracy, the non-carcinogenic risk assessment method could distinguish paint mixing site from spray painting site in terms of risk level (P<0.05), whereas the other three methods could not (both P>0.05). The result of consistency testing revealed that the Kappa coefficients between the four methods ranged from -0.13-0.26, indicating poor consistency. The result of Spearman correlation analysis showed that the non-carcinogenic risk assessment and exposure index methods had higher correlation with occupational exposure limits ratios (Spearman correlation coefficients were 0.501 and 0.656, respectively, all P<0.05). Conclusion Occupational health risk assessment can serve as a supplementary tool to evaluate the hazard level of key work sites in the automobile manufacturing industry. Non-carcinogenic risk assessment shows higher accuracy.

Spermatogenesis is a fundamental process that requires a tightly controlled epigenetic event in spermatogonial stem cells (SSCs). The mechanisms underlying the transition from SSCs to sperm are largely unknown. Most studies utilize gene knockout mice to explain the mechanisms. However, the production of genetically engineered mice is costly and time-consuming. In this study, we presented a convenient research strategy using an RNA interference (RNAi) and testicular transplantation approach. Histone H3 lysine 9 (H3K9) methylation was dynamically regulated during spermatogenesis. As Jumonji domain-containing protein 1A (JMJD1A) and Jumonji domain-containing protein 2C (JMJD2C) demethylases catalyze histone H3 lysine 9 dimethylation (H3K9me2), we firstly analyzed the expression profile of the two demethylases and then investigated their function. Using the convenient research strategy, we showed that normal spermatogenesis is disrupted due to the downregulated expression of both demethylases. These results suggest that this strategy might be a simple and alternative approach for analyzing spermatogenesis relative to the gene knockout mice strategy.
Spermatogenesis/physiology* ; Animals ; Male ; Mice ; Epigenesis, Genetic ; Jumonji Domain-Containing Histone Demethylases/metabolism* ; Histones/metabolism* ; RNA Interference ; Testis/metabolism* ; Methylation ; Mice, Knockout ; Histone Demethylases

With the rapid advancements in minimally invasive spine surgery and the increasingly sophisti-cated concept of visualization,transforaminal endoscopic lumbar discectomy(TELD)has become a primary treatment for lumbar disc herniation.Among the critical preoperative steps in TELD,foraminalplasty plays a pivotal role,as its quality directly impacts surgical outcomes and postoperative recurrence rates.This article systemati-cally reviews the evolution of foraminalplasty techniques,evaluates the selection and application of plasty sites,examines factors influencing stability after lumbar foraminalplasty,and highlights recent advancements in computer-assisted navigation.The goal is to serve as a comprehensive reference for clinicians.

A traditional Chinese medicine (TCM) monomer is a bioactive compound extracted from Chinese herbal medicines possessing determined biological activity and pharmacological effects, and has gained much attention for treating neuronal diseases. However, the application of TCM monomers is limited by their low solubility and poor ability to cross the blood-brain barrier (BBB). Exosomes are small extracellular vesicles (EVs) ranging in size from 30 to 150 nm in diameter and can be used as drug delivery carriers that directly target cells or tissues with unique advantages, including low toxicity, low immunogenicity, high stability in blood, and the ability to cross the BBB. This review discusses the biogenesis, components, stability, surface modification, isolation technology, advantages, and disadvantages of exosomes as drug carriers and compares exosomes and other similar drug delivery systems. Furthermore, exosome-encapsulated TCM monomers exert neuroprotective roles, such as anti-inflammation, anti-apoptosis, anti-mitophagy, and anti-oxidation, in various neuronal diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), and cerebral ischemia and reperfusion (CI/R) injury, as well as anti-drug resistance, anti-tumorigenesis, anti-angiogenesis, and promotion of apoptosis in brain tumors, providing more inspiration to promote the development of an exosome-based delivery tool in targeted therapy for neuronal diseases.

Pathological fractures after jaw cyst surgery are rare clinically but are a serious complication. Once a pathological fracture occurs, treatment time and economic costs increase, and doctors face difficulty in handling it. This article reports a case of a patient with mandibular pathological fractures after multiple odontogenic keratocyst surgery of the jaw. Mandibular lesions were located in the bilateral mandibular angles and had macrocystic changes. We adopted a conservative treatment plan, and the treatment effect was good. We also discussed and analyzed relevant literature to provide a reference for clinicians.
Humans ; Odontogenic Cysts/surgery* ; Conservative Treatment ; Postoperative Complications/therapy* ; Mandibular Fractures/etiology* ; Fractures, Spontaneous/etiology* ; Male ; Female

Objective:To analyze the epidemiological characteristics of tick-borne encephalitis (TBE) in Heilongjiang province, to provide a scientific basis for the prevention and control of TBE.Methods:The epidemiological characteristics of TBE were systematically analyzed by the data of TBE cases reported in Disease Surveillance Information Reporting System.Results:A total of 1 127 TBE cases were reported from 2006 to 2020. The average age was 45.8 year, and the case fatality rate was 1.2%. Most TBE cases occurred from April to August, with a peak in June.Conclusions:This research elucidated the epidemiological characteristics of TBE in Heilongjiang province, and provides important basic data for the disease prevention and control.

A traditional Chinese medicine(TCM)monomer is a bioactive compound extracted from Chinese herbal medicines possessing determined biological activity and pharmacological effects,and has gained much attention for treating neuronal diseases.However,the application of TCM monomers is limited by their low solubility and poor ability to cross the blood-brain barrier(BBB).Exosomes are small extracellular vesicles(EVs)ranging in size from 30 to 150 nm in diameter and can be used as drug delivery carriers that directly target cells or tissues with unique advantages,including low toxicity,low immunogenicity,high stability in blood,and the ability to cross the BBB.This review discusses the biogenesis,components,stability,surface modification,isolation technology,advantages,and disadvantages of exosomes as drug carriers and compares exosomes and other similar drug delivery systems.Furthermore,exosome-encapsulated TCM monomers exert neuroprotective roles,such as anti-inflammation,anti-apoptosis,anti-mitophagy,and anti-oxidation,in various neuronal diseases,including Alzheimer's disease(AD),Parkinson's disease(PD),multiple sclerosis(MS),and cerebral ischemia and reperfusion(CI/R)injury,as well as anti-drug resistance,anti-tumorigenesis,anti-angiogenesis,and promotion of apoptosis in brain tumors,providing more inspiration to promote the development of an exosome-based delivery tool in targeted therapy for neuronal diseases.