Age-related macular degeneration ( AMD ) is one of a leading worldwide cause of blindness. AMD is a multifactorial disease, and major risk factors include increasing age, current smoking, previous cataract surgery, environmental factors, nutritional factors, genetic markers through genetic regulate complement, lipid, angiogenesis and extracellular matrix. In addition to treatment, epidemiology, risk factors and genetics research of AMD have been significantly progressed. This article will review risk factors of AMD.

Objective To investigate the current situation of maternal self- efficacy of breastfeeding and explore its influencing factors in Zhengzhou. Methods Using the general condition questionnaires, breast feeding self-efficacy scale, perceived social support scale and Edinburgh postnatal depression scale to assess the situation of 180 puerperas by the convenience sampling in one obstetric hospital of Zhengzhou. Results The total score of maternal breast feeding self-efficacy was(114.04 ± 21.57)points.The frequency of delivery, the way of delivery and feeding ways, the average income of family were effected with breastfeeding self-efficacy. The total score of social support was(68.87 ± 10.43) points, the total score of puerperas depression was(7.61 ± 4.25) points.The social support score had positive correlation with breastfeeding self-efficacy(r=0.423, P<0.01). Puerperas depression had negative correlation with breastfeeding self- efficacy(r=- 0.342, P<0.01). Conclusions The maternal breastfeeding level in Zhengzhou was at a lower level. The level of maternal breastfeeding self-efficacy scale was impacted by maternal social support degree, the degree of depression. Measures should be taken to enhance maternal social support degree, reduce the degree of depression, in order to improve the level of maternal breastfeeding self-efficacy.

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included. RESULTS: In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15. CONCLUSION NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.
DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Retinal Dystrophies/genetics* ; Whole Exome Sequencing

Background Oxidative stress-induced apoptosis of human lens epithelial cells (LECs) is associated with c-Jun N terminal kinase (JNK) pathway.Quercetin possesses the antioxidation by inhibiting the JNK pathway.However,whether quercetin can protect LECs from the oxygen-induced damage is still not proved.Objective This study attempted to invatigate the effects and its mechanism of quercetin against hyperbaric oxygeninduced LECs apoptosis. Methods Human LECs line SRA01/04 was cultivated and passaged in MEM medium containing 10％ fetal bovine serum and 0.5％ non-essential amino acids for 2 hours,with or without 20 μmol/LSP600125 or 1 μmol/L quercetin prior to exposure to hyperbaric oxygen.Each exposure session remained 6 hours in 99％ O2 and 1％CO2 with a pressure chamber at 588 kPa.The viability of human LECs was detected by MTT.Cell apoptosis was assessed by flow cytometer using Annexin V-FITC apoptosis detection.The expression of JNK/p-JNK,c-Jun/p-c-Jun,caspase 3 and caspase 9 were detected by Western blot. Results LECs viability (A570 ) was 0.835 ±0.082,0.450±0.083,0.654±0.079,0.649±0.090 respectively in the blank control group,hyperbaric oxygen exposed group,hyperbaric oxygen+SP600125 group and hyperbaric oxygen+quercetin group.The A570 in the hyperbaric oxygen exposed group was significantly lower than the blank control group ( P =0.000),but those in hyperbaric oxygen + SP600125 group and hyperbaric oxygen+quercetin group were significantly higher than the hyperbaric oxygen exposed group ( P =0.003,0.002 ).The numbers of apoptosis cells were 3.17 ±0.74,19.77 ± 1.44,8.45 ±0.93,7.79 ±0.78 respectively in the blank control group,hyperbaric oxygen exposed group,hyperbaric oxygen+SP600125 group and hyperbaric oxygen+quercetin group.Apoptotic LECs were significantly increased in the hyperbaric oxygen exposed group compared with the blank control group ( P=0.000),but those in the hyperbaric oxygen+SP600125 group and hyperbaric oxygen+quercetin group were significantly reduced in comparison with hyperbaric oxygen exposed group (both P=0.000).In additional,expressions of p-JNK,p-c-Jun,caspase 3 and caspase 9 proteins in the cells were elevated in the hyperbaric oxygen exposed group compared with the blank control group (all P =0.000 ),however,those in the hyperbaric oxygen + SP600125 group and hyperbaric oxygen + quercetin group were declined when compared with the hyperbaric oxygen exposed group( all P＜0.05 ). Conclusions JNK pathway is involved in the apoptotic procedure of human LECs induced by oxygen stress.SP600125 and certain concentration of quercetin can interdict the JNK signal pathway and endogenous apoptosis of LECs and further alleviate hyperbaric oxygen-induced damage of LECs.

Apoptosis ; Inhibitor of Apoptosis Proteins ; Myocytes, Cardiac ; cytology

OBJECTIVETo study the effect of Flos Daturae alkaloids (FDA) on TGF-beta1-1uuuu;U epithelial-mesenchymal transition (EMT) of human pulmonary adenocarcinoma A549 cells.

METHODSA549 cells in vitro cultured were randomly divided into 5 groups, i.e., the blank control group, the TGF-beta1 group, the low dose FDA group, the medium dose FDA group, and the high dose FDA group. The morphologies of A549 cells were observed. Expressions of cytokeratin (CK)-19 and alpha-smooth muscle actin (alpha-SMA) were detected by Western blot and real-time PCR at 24, 48, and 72 h, respectively.

RESULTSA549 cells in the TGF-beta1, group turned from cobblestone to spindle shape gradually. Those in low, medium and high dose FDA groups showed similar shapes to those of the TGF-beta1 group. There was no statistical difference in the morphology of A549 cells among the 3 dose FDA groups (P > 0.05). Western blot showed that, when compared with the blank control group, the expression of CK-19 was down-regulated, but the expression of alpha-SMA was up-regulated in the TGF-beta1 group (P < 0.01). Compared with the TGF-beta1, group, the expression of CK-19 was up-regulated, but the expression of alpha-SMA was suppressed in low, medium and high dose FDA groups (P < 0.01). The CK-19 expression obviously increased, but the alpha-SMA expression was suppressed in high dose FDA group at 72 h (P < 0.01). Real-time PCR results showed, as compared with the TGF-beta1 group, the mRNA expression of CK-19 was increased, but the mRNA expression of alpha-SMA was reduced in low, medium and high dose FDA groups (P < 0.01).

CONCLUSIONSFDA had no effect on EMT morphological changes of TGF-beta1 induced A549 cells. FDA could reverse characteristic markers of A549 cells during EMT to some extent, such as expressions of CK-19 and alpha-SMA. The expression of CK-19 (as the epithelium marker) increased and the expression of alpha-SMA (as the mesenchymal marker) was reduced. Besides, they were most obviously seen in the high dose FDA group at 72 h in a dose- and time-dependent manner.

Actins ; Adenocarcinoma ; Alkaloids ; pharmacology ; Cell Line, Tumor ; Datura ; Drugs, Chinese Herbal ; pharmacology ; Epithelial Cells ; Epithelial-Mesenchymal Transition ; Epithelium ; Humans ; Transforming Growth Factor beta1 ; metabolism

Adult ; Antigens, CD20 ; metabolism ; Brain ; pathology ; Brain Neoplasms ; immunology ; pathology ; CD3 Complex ; metabolism ; Diagnosis, Differential ; Humans ; Leukocyte Common Antigens ; metabolism ; Lymphomatoid Granulomatosis ; immunology ; pathology ; Male

Bacterial Infections ; drug therapy ; Child ; Drug Resistance, Bacterial ; Humans ; Microbial Sensitivity Tests ; beta-Lactamases ; biosynthesis

Objective To prepare novel alkanethiol modified magnetic silver flower nanoparticles as SERS substrate to chloramphenicol for Raman detection and to determine their enhancement effect.Methods An alkanethiol was chosen as a surface modifier of the substrate and was self-assembled onto the magnetic silver flower nanoparticle surface.The chloram-phenicol molecules were enriched to the surface of the substrate by hydrophobic interaction and the effect for detection of chloramphenicol SERS signal was enhanced.Results It was found that the 1-hexanethiol-modified SERS substrate was able to lead to stronger enhancement than 1-dodecanethiol and octadecanethiol.Fe3 O4@SiO2-Ag-C6 was used to detect the chloramphenicol (10 -3 -10 -10 mol/L) and chloramphenicol in milk (10 -3 -10 -9 mol/L) by surface-enhanced Raman spectroscopy.The detection limits were 0.1 nmol/L (32 ppt) and 1 nmol/L (323 ppt) respectively.Conclusion Alkanethiol modified magnetic silver flower nanoparticles are a highly active SERS substrate, which can be used for detection of low concentrations of analytical substances.

Objective To investigate the effects of different dose of tranexamic acid in fibrinolysis during liver transplantation. Methods Sixty ASA Ⅱ~ Ⅳ liver transplant recipients, were randomly, double-blind assigned to one of 3 groups (n = 20): group control (group C), group tranexamic acid 1 (group T1) and group tranexamic acid 2 (group T2). The patients in group C received a loading dose of normal saline 10 mL, then continued infuse normal saline at 20 mL/h until neohepatic phase 120 min, while in other two groups, patients received a loading dose of tranexamic acid 1 g, totally 10 mL, followed by continuous infusion at 10 mg/(kg·h) in group T1 or 20 mg/(kg·h) in group T2 until neohepatic phase 120 min. Prothrombin time, fibrinogen, fibrin degradation product and D-dimers were measured before operation (T0), 120 min after the skin incision (T1), nonhepatic phase 30 min (T2), neohepatic phase 120 min (T3). Blood loss, fresh frozen plasma dosage, fibrinogen dosage and thromboembolic events were recorded. Results The plasma concentration of fibrin degradation product and plasma concentration of D-dimers were different in the 3 groups, group T2< group T1 0.05). Conclusions Continuous infusion of tranexamic acid can inhibit fibrinolysis during liver transplantation. No adverse event of thrombosis was detected. Larger dose of tranexamic acid can reduce blood loss and fresh frozen plasma transfusion.