Dry eye disease(DED)is a common ocular surface disorder worldwide, primarily characterized by a loss of homeostasis of the tear film, and frequently associated with meibomian gland dysfunction(MGD), decreased tear film stability, ocular discomfort, and visual impairment. In recent years, factors such as the widespread use of digital devices,the aging population, and environmental changes have contributed to a significant increase in its global prevalence, making it a major public health concern. Red light therapy(RLT), also known as low-level laser therapy(LLLT)or photobiomodulation(PBM), is a non-invasive treatment that utilizes low-energy red or near-infrared light to irradiate tissues. It exerts photobiomodulatory effects to promote cellular repair and functional recovery. This therapy has demonstrated considerable potential in treating various ocular conditions. Its broader clinical application could improve therapeutic outcomes, alleviate patient discomfort and financial burden, and reduce the consumption of healthcare resources, thereby yielding significant socio-economic benefits. This paper systematically reviews the multifaceted mechanisms and application prospects of RLT in managing DED, including its anti-inflammatory effects, improvement of meibomian gland function, promotion of conjunctival goblet cell repair, and alleviation of visual fatigue, aiming to provide a theoretical foundation and practical reference for its clinical adoption.

Objective:To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation.Methods:A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlations were analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children′s Medical Center (Ethics No.: 2022-406B00).Results:The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c. 2668C>T; p. Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case reports has associated it with this phenotypic spectrum. It was not observed in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. Conclusion:This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c. 2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies in prenatal diagnostics. Above findings have advanced our understanding of pleiotropic effects in type Ⅱ collagen disorders and lay the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities in high-risk families.

Objective:To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation.Methods:A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlations were analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children′s Medical Center (Ethics No.: 2022-406B00).Results:The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c. 2668C>T; p. Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case reports has associated it with this phenotypic spectrum. It was not observed in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. Conclusion:This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c. 2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies in prenatal diagnostics. Above findings have advanced our understanding of pleiotropic effects in type Ⅱ collagen disorders and lay the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities in high-risk families.

Objective To investigate the differences in physical fitness and physiological indexes of male soldiers stationed at different altitudes and to analyze the determinants of physical fitness of these soldiers.Methods A total of 13 648 male soldiers at different altitudes were included,whose results of annual military physical assessment and physiological indexes in 2023 were collected and comparatively analyzed.Results The 3000-meter running performance,30-meter × 2 serpentine running performance and resting blood oxygen saturation of high-altitude soldiers gradually declined with the increase of altitudes.The pull-up performance dropped significantly when the altitude＞2000 m.Soldiers ≥30 years old demonstrated a marked decline in physical fitness across different training programs.Moderate altitude acclimatization was conduciveto the recovery of physical fitness of soldiers,while exposure to high-altitude environment ≥5 years led to overall deterioration.Conclusion The high-altitude environment significantly impacts the aerobic endurance,speed,agility,and strength of soldiers.Altitude ≥4000 m,age ≥30 years,and prolonged exposure ≥5 years may contribute to the decline in physical fitness of soldiers.

OBJECTIVE: To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation. METHODS: A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (including 4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlation was analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children's Medical Center (Ethics No.: 2022-406B00). RESULTS: The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested with high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c.2668C>T; p.Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case report has associated it with this phenotypic spectrum. It was not recorded in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. CONCLUSION This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c.2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted the challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies during prenatal diagnosis. Above findings have advanced our understanding of the pleiotropic effects in type Ⅱ collagen disorders and laid the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities for high-risk families.
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Arthritis/genetics* ; Collagen Type II/genetics* ; Connective Tissue Diseases/genetics* ; Exome Sequencing ; Genetic Association Studies ; Genotype ; Hearing Loss, Sensorineural/genetics* ; Mutation ; Pedigree ; Phenotype ; Retinal Detachment/genetics* ; East Asian People/genetics*

[Purpose]To analyze the prevalence characteristics and disease burden of lung cancer in Hebei cancer registration areas from 2012 to 2020.[Methods]Lung cancer data were collected from the Hebei Provincial Cancer Registry from 2012 to 2020.The crude incidence/mortality rates,age-standardized incidence/mortality rates by Chinese standard population(ASIRC/ASMRC)and by world standard population(ASIRW/ASMRW)were calculated.The Joinpoint model was used to calculate the annual percentage change(APC)and average annual percentage change(AAPC).Years of life lost(YLL)and years lived with disability(YLD)and the disability-adjusted life years(DALY)were calculated.[Results]From 2012 to 2020,the ASIRW of lung cancer in Hebei can-cer registration areas was 33.13/105,44.56/105 for men and 22.54/105 for women,respectively;the incidence rates of urban and rural areas were 29.05/105 and 33.52/105,respectively.The incidence rates increased with ages,reaching a peak in the age group of 80～84 years old.There was a de-creasing trend in the ASIRW of lung cancer(AAPC=-3.99％,P＜0.05).From 2012 to 2020,the ASMRW of lung cancer was 25.80/105,36.56/105 for men and 15.96/105 for women,respectively;the mortality rates of urban and rural areas were 25.14/105 and 26.12/105,respectively.The mor-tality rates increase with ages,reaching a peak in the age group of 85 and above years old.There was a decreasing trend in the mortality of lung cancer(AAPC=-4.65％,P＜0.001)from 2012 to 2020.The DALY of lung cancer in Hebei Province from 2012 to 2020 was 484 194 person-years,with male accounting for 66.77％,female accounted for 33.23％,the DALY rate of lung cancer was 3.31‰,of which 35.57％in urban areas and 64.43％in rural areas.[Conclusion]Lung can-cer incidence and mortality rate in Hebei cancer registration areas from 2012 to 2020 showed a decreasing trend.The disease burden is gradually increasing with age in middle-aged and el-derly population.

Bacillus velezensis DJ1 exhibits broad-spectrum antagonistic activity against diverse phytopathogenic fungi, while its biocontrol mechanisms against Fusarium graminearum, the causal agent of maize stalk rot, remain poorly characterized. In this study, we integrated genomics and transcriptomics to elucidate the antifungal mechanisms of strain DJ1. The results demonstrated that DJ1 inhibited F. graminearum with the efficacy of 64.4%, while its polyketide crude extract achieved the control efficacy of 55% in pot experiments against this disease. Whole-genome sequencing revealed a single circular chromosome (3 929 792 bp, GC content of 47%) harboring 12 biosynthetic gene clusters for secondary metabolites, six of which encoded known antimicrobial compounds (macrolactin H, bacillaene, difficidin, surfactin, fengycin, and bacilysin). Transcriptomic analysis identified 243 differentially expressed genes (152 upregulated and 91 downregulated, P < 0.05), which were potentially associated with the antagonistic activity against F. graminearum. KEGG enrichment analysis highlighted activation (P < 0.05) of cysteine/methionine metabolism, pentose phosphate pathway, and polyketide biosynthesis pathways, indicating that DJ1 employed synergistic strategies involving antimicrobial compound synthesis, energy metabolism enhancement, and nutrient competition to suppress pathogens. This study provides a theoretical foundation for developing novel microbial resources and application technologies to combat phytopathogenic fungi.
Fusarium/drug effects* ; Bacillus/metabolism* ; Plant Diseases/prevention & control* ; Antifungal Agents/pharmacology* ; Genomics ; Zea mays/microbiology* ; Transcriptome ; Gene Expression Profiling ; Antibiosis ; Multigene Family ; Multiomics

Objective:To systematically evaluate the association between maternal arsenic exposure and spontaneous abortion, stillbirth and preterm birth.Methods:Web of Science, PubMed, CNKI database, the VIP Chinese Journal Service Platform and Wanfang Data Knowledge Service Platform were searched for studies on the association between maternal arsenic exposure and spontaneous abortion, stillbirth, and preterm birth before December 2023. Meta-analysis of binary variables was conducted using Stata MP 17.0 software, with OR value(95% CI) as the effect analysis indicator, and subgroup analysis was used to explore the sources of heterogeneity. Results:A total of 21 articles were included ( n = 5 150 286). The meta-analysis results showed that maternal arsenic exposure was positively correlated with spontaneous abortion, stillbirth, and preterm birth, with pooled OR values (95% CI) of 1.48 (1.28 - 1.70), 1.98 (1.60 - 2.45), and 1.05 (1.02 - 1.07), respectively. Subgroup analyses showed that arsenic exposure was positively correlated with the risk of preterm birth in both prospective cohort studies ( OR = 1.18, 95% CI: 1.09 - 1.27) and cross-sectional studies ( OR = 1.10, 95% CI: 1.06 - 1.15). Internal exposure to arsenic ( OR = 1.15, 95% CI: 1.04 - 1.28) presented a more pronounced risk of preterm birth compared to external exposure ( OR = 1.05, 95% CI: 1.01 - 1.10). Moreover, the impact was more substantial in developing countries ( OR = 1.17, 95% CI: 1.06 - 1.29), while it was not statistically significant in developed countries [1.04 (1.00 - 1.09), P > 0.05]. Conclusion:There is a positive association between maternal arsenic exposure and spontaneous abortion, stillbirth and preterm birth.

Objective:To explore the characteristics of peripheral retinal defocus distribution in adult myopia and its relationship with refractive error.Methods:A cross-sectional study was conducted.A total of 270 myopic patients aged 18 to 46 years were enrolled at Tianjin Eye Hospital from January to March 2024.Data from the right eye were included in the analysis.Spherical power and cylindrical power were obtained using an autorefractor and the spherical equivalent (SE) was calculated.Corneal curvature parameters including flap keratometry (K1), steep keratometry (K2), and average keratometry (Km) were measured using the Pentacam anterior segment imaging analyzer.Central corneal thickness (CCT) and axial length (AL) were measured using the IOLMaster optical biometer.Peripheral defocus within a 53° area centered on the fovea was assessed using multispectral refractive topography.Based on the peripheral defocus data, the distribution patterns were classified into four types: hemilateral upturn type, saddle type, crater type, and relatively flat type.Characteristics of different tpes and their correlation with diopter were analyzed.This study followed the Declaration of Helsinki.The study protocol was reviewed and approved by the Medical Ethics Committee of Tianjin Eye Hospital (No.KY-2024020).All participants voluntarily participated and signed the informed consent form.Results:Of the different types of peripheral retinal defocus, 186 eyes (68.63%) were hemilateral upturn type, 45 eyes (16.61%) were crater type, 36 eyes (13.28%) were relatively flat type, and 3 eyes (1.11%) were saddle type.The crater type exhibited the lowest mean SE of (-6.18±1.50)D, while the relatively flat type showed the highest mean SE of (-3.88±0.87)D.There were significant differences in SE and AL among different peripheral defocus types ( F=15.469, 17.928, 3.431; all P<0.05).The hemilateral upturn type had significantly lower SE and spherical diopter than the relatively flat type, and crater type had significantly lower SE and spherical diopter compared to the hemilateral upturn type and relatively flat type significantly, and the hemilateral upturn type had longer AL than the relatively flat type (all P<0.05).There was no statistically significant difference in CCT, K1, K2, or Km among different peripheral defocus types ( F=0.861, 1.761, 2.603, 2.248; all P>0.05).Spherical power was weakly negatively correlated with superior, inferior, and temporal peripheral defocus ( r=-0.269, P<0.001; r=-0.176, P<0.01; r=-0.292, P<0.001).Age was positively correlated with superior and temporal peripheral defocus ( rs=0.213, P<0.001; rs=0.181, P=0.003), and negatively correlated with nasal peripheral defocus ( rs=-0.138, P=0.023). Conclusions:Among adult peripheral defocus patterns, the hemilateral upturn type is predominant.The crater type has the lowest mean spherical equivalent, while the relatively flat type has the highest.There are negative correlations between spherical power and the superior, inferior, and temporal peripheral defocus.