RESUMO
Objective:To analyze the factors that influence the height development of children and adolescents aged 3 to 16 years in Chengguan District of Lhasa of Xizang Autonomous Region, China.Methods:During the period from August 2021 to June 2022, a convenient sampling method was used to select 100 children and adolescents aged 3-16 years residing in Chengguan District of Lhasa of Xizang Autonomous Region, China. The subjects' physical measurement indicators, Tanner stage, height development questionnaire, wrist bone age, sex hormones, and nutritional biochemical indicators were carefully collected. The factors that influence height development were analyzed using univariate and multivariate logistic regression analyses. Furthermore, the receiver operating characteristic (ROC) curves were constructed to visualize the effects of these influential factors.Results:The study involved a total of 100 children and adolescents, with 51 (51.0%) participants in the tall stature group and 49 (49.0%) participants in the low stature group. Significant differences were observed between the two groups in terms of height difference relative to the national average, body weight, waist circumference, luteinizing hormone level, the percentage of individuals with an abnormal luteinizing hormone level, follicle stimulating hormone level, and bone age [ χ2 ( t) = 13.6, 2.65, 2.47, -2.58, 10.9, -2.95, 11.8, all P < 0.05]. A univariate logistic regression analysis revealed that body mass, waist circumference, the percentage of individuals with an abnormal luteinizing hormone level, follicle stimulating hormone level, and bone age are factors that possibly affect height development ( OR = 1.05, 1.05, 4.56, 1.18, 2.99, all P < 0.05). Furthermore, a multivariate logistic regression analysis revealed waist circumference, the percentage of individuals with an abnormal luteinizing hormone level, and bone age as independent factors influencing height development ( OR = 1.10, 7.01, 3.14, all P < 0.05). The receiver operating characteristic (ROC) curve analysis showed that the values of the area under the curve were 0.65, 0.65, 0.67, and 0.75 respectively for waist circumference, the percentage of individuals with an abnormal luteinizing hormone level, bone age, and their combination (all P < 0.05). Conclusion:Waist circumference, the percentage of individuals with an abnormal luteinizing hormone level, and bone age appear to be critical factors influencing the height development of children and adolescents In Chengguan District of Lhasa of Xizang Autonomous Region, China.
RESUMO
OBJECTIVE@#To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).@*METHODS@#After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients' blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.@*RESULTS@#Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c.923T to C (p.L308P) and c.421C to T (p.Q141X) variants in Family 1, c.572T to C (p.L191P) and c.421C to T (p.Q141X) in Family 2.@*CONCLUSION@#The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.
Assuntos
Humanos , Povo Asiático , Proteínas de Transporte , Genética , Distrofias de Cones e Bastonetes , Genética , Proteínas do Olho , Genética , Mutação , Linhagem , Sequenciamento do ExomaRESUMO
Objective@#To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).@*Methods@#After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients’ blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.@*Results@#Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c. 923T>C(p.L308P) and c. 421C>T(p.Q141X) variants in Family 1, c. 572T>C(p.L191P) and c. 421C>T(p.Q141X) in Family 2 .@*Conclusion@#The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.
RESUMO
Posterior capsular opacification (PCO) is a common complication after extracapsular cataract extraction,which is drawing more attentions because of secondary vision loss,and the study on PCO pathogenesis mechanism is a key for the targeting prevention and treatment of PCO.The study of PCO pathogenesis mechanism showed that autophagy and apoptosis are associated with PCO,and it was also determined that the activation of related signal-transduction pathway plays an important role in PCO formation,for example,the release of inflammatory factors and cytokines following cataract extraction activate the signal transduction and genetic transcription of lens epithelial cells (LECs) and further promote the proliferation,migration and epithelial-mesenchymal transition (EMT) of residual LECs,which is a pathological basis of PCO.It is a challenge for us to investigate the effective treating method of PCO basis on its pathogenesis.Up to now,the studies of drugs targeting PCO and genetic therapy which based on the advances in epigenetics have made great progress.Ophthalmic researchers should pay close attention to the latest trends of basic research,track the methodology and exploit the emerging spotlight,explore the novel means of treatments of PCO,and expand the promising future of PCO prevention and treatment.