OBJECTIVES: Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population. METHODS: Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis. RESULTS: Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC. CONCLUSIONS Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent ; Adult ; Female ; Humans ; Male ; Case-Control Studies ; China/ethnology* ; Exome Sequencing ; Genetic Predisposition to Disease ; Keratoconus/genetics* ; Mutation ; Mutation, Missense ; Transcription Factors/genetics* ; East Asian People/genetics*

[Objective]To explore the traditional processing techniques and Jingbang(Beijing local)experience of Ophiopogon japonicus,providing a reference for modern research on Opehiopogon japonicus.[Methods]Collecting data on the processing of Ophiopogon japonicus from ancient herbal literature and traditional Jingbang heritage materials,and consulting with old pharmacists,based on the analysis and organization,the various processing methods of Ophiopogon japonicus were restored.[Results]The purification methods of Ophiopogon japonicus have mechanisms such as removing the pith to relieve annoyance,removing the pith to treat channel dryness,and removing the pith to nourish lung Yin,with the first one being the most widely spread.The methods of removing the pith include boiling water to moisten the pith,clear water to moisten the pith,and roasting to soften the pith,with the first one being the most effective.The purpose of the wine soaking method is to alleviate the side effects of long-term use of Ophiopogon japonicus on stomach cold.The rice frying method should spread the rice thinly in the pot,spread Ophiopogon japonicus on the rice,and should not be stirred.If it is stirred with the rice,Ophiopogon japonicus is easy to puff up.The steaming method has two types:clear steaming and mixing with milk steaming.Ophiopogon japonicus is not easy to crush,and the intermittent roasting method recorded in Compendium of Materia Medica is very good.The method of simmering Ophiopogon japonicus and making Ophiopogon pills both utilize its juice-containing characteristics.The traditional Jingbang Ophiopogon japonicus has obvious local characteristics in the methods of moistening and removing the pith.Zhu Ophiopogon japonicus is for sprinkling water and moistening slightly,and cinnabar fine powder is finely scattered with sprinkling and stirring.These two processed varieties have disappeared for half a century.[Conclusion]The restoration and optimization of the processing methods of Ophiopogon japonicus are expected to improve the efficacy of Ophiopogon japonicus,providing higher quality Ophiopogon japonicus medicinal materials for the clinic.It reveals the local characteristics of the traditional Jingbang Ophiopogon japonicus processing,providing a possibility for the revival of the disappeared processed varieties,which is of great significance for enriching Chinese medicine resources and enhancing the clinical application value of Chinese medicine.

PURPOSE: We evaluated the effect of positive superficial and/or deep margin status on local recurrence (LR) in invasive breast cancer treated with breast-conserving surgery (BCS) followed by radiotherapy. MATERIALS AND METHODS: In total, 3,403 stage 1 and 2 invasive breast cancer patients treated with BCS followed by radiotherapy from January 2000 to December 2008 were included in this study. These patients were divided into three groups according to margin status: clear resection margin status for all sections (group 1, n=3,195); positive margin status in superficial and/or deep sections (group 2, n=121); and positive peripheral parenchymal margin regardless of superficial and/or deep margin involvement (group 3, n=87). The LR-free survival between these three groups was compared and the prognostic role of margin status was analyzed. RESULTS: Across all groups, age, tumor size, nodal status, and human epidermal growth factor receptor 2 status did not significantly differ. High grade, positive extensive intraductal component, hormone receptor positivity, hormone therapy received, and chemotherapy not received were more prevalent in groups 2 and 3 than in group 1. Five-year LR rates in groups 1, 2, and 3 were 1.9%, 1.7%, and 7.7%, respectively. Multivariate analysis revealed that group 3 was a significant predictor for LR (hazard ratio [HR], 4.78; p < 0.001), but that positive superficial and/or deep margin was not (HR, 0.66; p=0.57). CONCLUSION: Superficial and/or deep margin involvement following BCS is not an important predictor for LR.
Breast Neoplasms ; Breast ; Drug Therapy ; Humans ; Mastectomy, Segmental ; Multivariate Analysis ; Neoplasm Recurrence, Local ; Radiotherapy ; Receptor, Epidermal Growth Factor ; Recurrence