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 investigate the clinic effect of tunnel technique on endoscopic submucosal dissection(ESD)for massive colorectal laterally spreading tumor(LST). Methods A retrospective study was conducted on the data of patients with colorectal large area LST(the shortest diameter>4 cm) undergoing ESD by tunnel technique from January 2015 to June 2016 in Digestive Endoscopy Center of Jiangsu Province Hospital of Traditional Chinese Medicine. The size of resected specimens, operation time, complications, pathology results, the number of en bloc resection and curative resection were analyzed. Results A total of 14 cases were collected, including 7 males and 7 females. The longest diameters of resected specimens were from 4.0 to 7.0 cm with mean size of 5.18 ± 0.49 cm. The operation times were from 40 to 120 min with mean time of 63.57±12.95 min. Intraoperative perforation occurred in 2 cases but no delayed perforation and bleeding occurred. Postoperative pathology showed 1 patient with adenoma hyperplasia with crypt abscess,3 patients with low grade intraepithelial neoplasia,6 patients with high grade intraepithelial neophasia,1 patient with carcinoma in situ, 1 patient with carcinoma in M3, and 2 patients with carcinoma in SM1. The number of cases who received en bloc resection, complete resection, and curative resection were 13, 13, and 13, respectively. Conclusion ESD by tunnel technique is safe and effective in the treatment of colorectal large area LST,which is worth popularizing in clinics.

Objective To explore the effects of the pre-pregnant body mass index(BMI) and the pregnancy growth on the mater-nal and neonatal outcomes .Methods 250 pregnant women with the built file ,regular antenatal inspection and hospital delivery in our hospital during 2011 were selected and divided into the emaciation group ,the appropriate group and the obesity group according to the pre-pregnant BMI .The occurrence rates of cesarean section ,fetal macrosomia ,low birth weight ,postpartum hemorrhage ,ges-tational diabetes ,gestational hypertension disease ,fetal distress ,neonatal asphyxia and puerperal infection were compared among the various groups .In addition ,according to the different growth amplitudes of pregnancy BMI ,the pregnant women were re-divided in-to 3 groups(weight gain insufficient group ,weight gain appropriate group and weight gain overmuch group ) and the different ma-ternal and neonatal outcomes were compared .Results The occurrence rates of cesarean section ,macrosomia ,gestational diabetes and gestational hypertension disease in the obesity group were significantly higher than those in the emaciation group and the appro-priate group(P<0 .05) ,while the occurrence rate of the low birth weight in the emaciation group was significantly higher than that of the appropriate group and the obesity group(P<0 .05);the occurrence rates of cesarean section ,macrosomia ,gestational diabetes and gestational hypertension disease in the weight gain overmuch group were significantly higher than those in the weight gain in-sufficient group and the weight gain appropriate group(P<0 .05) ,while the occurrence rate of low birth weight in the weight gain insufficient group was significantly higher than that of the weight gain appropriate group and the weight gain overmuch group (P<0 .05) .Conclusion The maternal and neonatal outcomes in the pregnant women with pre-pregnant BMI exceeding the standard and pregnant BMI overmuch growth are very worrying .The growth of pre-pregnant BMI and pregnant BMI is one of the important indi-cators for monitoring the maternal and neonatal complications .