1.Characteristics of retinal peripheral defocus in patients with unilateral myopia
Lu GAN ; Wentao DENG ; Shuping YANG ; Wuxiao ZHAO
International Eye Science 2026;26(4):573-578
AIM: To investigate the features of retinal peripheral defocus and its associated variables in unilateral myopia. METHODS: This cross-sectional study included consecutive anisometropic myopic patients who visited Center for Optometry and Visual Science from August 2023 to March 2025 in Guangxi Zhuang Autonomous Region. Eyes were classified based on spherical equivalent(SE)and uncorrected visual acuity(UCVA): myopic eyes(SE ≤-0.50 D, UCVA <0.2 LogMAR)and contralateral normal eyes(SE ≥-0.25, UCVA ≥0 LogMAR). Total relative defocus value(TRDV)across the visual field, RDV at 15°, 30°, and 45°(RDV-15, RDV-30, RDV-45), and quadrant-specific RDV(superior/RDV-S, inferior/RDV-I, temporal/RDV-T, nasal/RDV-N)were compared between groups.RESULTS: This study enrolled 81 anisometropic patients(81 myopic eyes, 81 contralateral normal eyes). The cohort comprised 42 males and 39 females, 47 patients aged 8-12 y and 34 patients aged 13-17 y(mean age: 11.8±2.4 y). Myopic eyes demonstrated significantly higher values in TRDV, RDV-30, RDV-45, RDV-I, RDV-S, RDV-N, and RDV-T versus contralateral normal eyes(all P<0.001). RDV-15 showed no significant difference between groups in either 8-12-year-olds or 13-17-year-olds(both P>0.05). Among 13-17-year-olds, RDV-S also exhibited no intergroup difference(P>0.05). All other parameters differed significantly across both age strata(all P<0.05). In myopic eyes, age positively correlated with TRDV(r=0.31, P=0.005), RDV-30(r=0.33, P=0.002), RDV-45(r=0.32, P=0.004), and RDV-N(r=0.37, P<0.001). In contralateral eyes, scotopic pupil diameter negatively correlated with TRDV(r=-0.25, P=0.03), RDV-45(r=-0.25, P=0.02), RDV-S(r=-0.29, P=0.008), and RDV-N(r=-0.27, P=0.014). And age positively correlated with RDV-N(r=0.30, P= 0.006), axial length positively correlated with RDV-T(r=0.30, P=0.006). CONCLUSION: The peripheral defocus of unilateral myopic eyes varies from that of their contralateral normal counterparts. The former presents hyperopic defocus, which augments with age, while the latter displays myopic defocus, which accentuates with the increase of the scotopic pupil size.
2.Analysis of Clinical Phenotype and Pathogenic Variations in Two Families with Branchio-oto Syndrome
Wanli HE ; Hong'en XU ; Mengli LIU ; Teng ZHANG ; Shuping SUN ; Wei LU
Journal of Audiology and Speech Pathology 2024;32(3):206-211
Objective To study the causes of two Chinese families with Branchio-oto syndrome.Methods The clinical data of two families were collected,and the pathogenic genes and variants of Branchio-oto syndrome were screened and verified by whole exome sequencing and Sanger sequencing.Results Two proband patients were diagnosed with Branchio-oto syndrome.Proband 1 presented with preauricular and anterior cervical fistulas,as well as congenital severe sensorineural hearing loss.On the other hand,proband 2 displayed a preauricular fistula and an anterior cervical cyst.At the age of 5,progressive deterioration of binaural hearing was observed,leadingtothe cur-rent diagnosis of severe mixed deafness.Genetic analysis showed that proband 1 and 2 carried nonsense variants of EYA1 gene:NM_000503.6:c.1408G>T(p.Glu470Ter),and c.889C>T(p.Arg297Ter).According to the guide-lines of the American College of Medical Genetics and Genomics(ACMG),the above variants were rated as patho-genic variants.After reviewing the literature,the c.1408G>T variant had not been previously reported,and the c.889C>T is a known variant.Conclusion The variants c.1408G>T(p.Glu470Ter)and c.889C>T(p.Arg297Ter)of EYA1 gene are the cause of these two families with Branchio-oto syndrome.The first report of c.1408G>T broadens the mutational spectrum of EYA1 gene and provids a clinical reference for the diagnosis of Branchio-oto syndrome.
3.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
4.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
5.Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review
Shuping SUN ; Bin ZUO ; Wanli HE ; Hanjun WANG ; Hongen XU ; Wei LU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(9):934-940
Objective:To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2).Methods:Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. POLR1D and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. Results:The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband′s mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the POLR1D gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Conclusions:Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the POLR1D gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.
6.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
7.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
8.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
9.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.
10.Health Resources Supporting High-quality Development of Urban Industrial Economy:Situation Analysis and Countermeasure Suggestions
Qi LI ; Lu LI ; Huiwen LI ; Chaofan LI ; Shuping WANG
Chinese Health Economics 2024;43(7):47-51
Industry serves as the main body and driving force of national economy.The high quality of the urban industrial economy depends on the role of health resources in maintaining the health of the workforce population.It analyzes the allocation of health resources in typical cities ranked within the top 10 in terms of industrial added value,identifies prevailing the new situation facing the allocation of health resources,and puts forward suggestions.It is found that health resources supporting high-quality development of urban industrial economy is currently facing the main situations of population increase and decrease differentiation within the city,more frequent cross-regional medical treatment,and accelerated aging trend of labor force.

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