Objective To elucidate the effect of curcumol on hepatic stellate cell iron death and epithelial-mesenchymal transition(EMT),and to investigate the molecular mechanism of its anti-liver fibrosis effect.Methods A model of hepatic stellate cell activation was constructed using normal cultured hepatic stellate cells in vitro,and the cells were divided into blank group and experimental-L,-M,-H groups.The blank group was given DMEM complete culture solution for normal culture;the experimental-L,-M,-H groups were given DMEM complete culture solution containing 12.5,25.0 and 50.0 mg·L-1 curcumol for 48 h of intervention.The effects of curcumol on the proliferation of hepatic stellate cells was observed by CCK-8.The expression levels of glutathione peroxidase 4(GPX4)and solute carrier family 7 member 11(SLC7A11)were detected by Western blot.The expression levels of E-cadherin and N-cadherin were detected by immunofluorescence.Results The cell proliferation rates of the experimental-M,-H groups and blank group were(68.97±5.61)％,(61.91±4.40)％and(118.07±10.01)％;the relative expression levels of GPX4 were 0.37±0.04,0.28±0.03 and 0.58±0.05;the relative expression levels of SLC7A11 were 0.38±0.04,0.28±0.03 and 0.60±0.05;E-cadherin levels were 6.76±1.09,9.57±1.73 and 2.05±0.72;N-cadherin levels were 5.66±0.66,3.44±0.78 and 10.37±0.66.The differences of above indicators were statistically significant between the blank group and the experimental-M,-H groups(P＜0.05,P＜0.01).Conclusion Curcumol promotes iron death in hepatic stellate cells,thereby inhibiting hepatic stellate cell EMT,which may be its molecular mechanism to prevent and treat liver fibrosis.

Biological category is effective to indicate the evolution of organism populations between past and present. Conventional taxonomy of human parasites mainly depends on important morphological features, which suffers from a problem of categorizing related-genera species with similar morphological characteristics. With recent advances in molecular biological technologies, the effective applications of mitochondrial and ribosomal biomarkers and sequencing greatly improve the development of the taxonomic rank of human parasites. Worldwide, the classification of human parasites have been continuously revised and improved. Hereby, we re-categorize parasitic Protozoa, Trematoda, Cestoda and Nematoda, so as to provide insights into the researches on molecular systematics and genetic evolution of human parasites.

Objective: To screen and analyze the mutations of MITF gene in two children of type Ⅱ Waardenburg syndrome (WS2) from different families in Yunnan,China,and to explore the possible molecular pathogenesis. Methods: With informed consent, medical history collection, physical examinations, audiological evaluation, and high resolution computer tomography (HRCT) scan of temporal bone were performed on the two WS2 probands and their family members. Genomic DNA was extracted from peripheral blood of all individuals. The coding regions including all exons, part of introns and promoters of MITF, PAX3, SOX10, SNAI2, END3, ENDRB, and KITLG genes were sequenced by high-throughput sequencing. According to the results of high-throughput sequencing, pathogenic mutations detected in the probands and their parents were verified by Sanger sequencing. Results: The proband 1 carried c.641_643delGAA mutation in the 7th exon of MITF gene, which was a frame-shift mutation resulting in an amino acid change of p.214delR. It was a de novo mutation as the parents of proband 1 showed no variation on this site. The proband 2 carried heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene, which defected the function of MITF protein. Conclusion: Genetic examinations provide important evidence for diagnosis of Waardenburg syndrome. Heterozygous mutation c.641_643delGAA and heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene might be the molecular pathogenesis of the two WS2 probands in this study.
Asians/genetics* ; Child ; China ; Humans ; Mutation ; Pedigree ; SOXE Transcription Factors/genetics* ; Waardenburg Syndrome/genetics*

Objective: To analyze the clinical manifestations of a patient with branchiootic syndrome(BOS) and her families and to carry out genetic testing in order to specify the biological pathogenesis. Methods: Clinical data of the patient and her families were collected. Genomic DNA in the peripheral blood of the proband and her family members was extracted. All exons of 406 deafness-related susceptible genes as well as their flanking regions were sequenced by high-throughput sequencing, and the mutation sites of the proband and her parents were validated by Sanger sequencing. Results: There were nine members in three generations, of whom four presented with hearing loss, preauricular fistula and branchial fistula which met the diagnostic criteria of BOS. Proband and her mother presented with auricle malformation and inner ear malformation. And no one had abnormalities in the kidneys of all the patients. Pedigree analysis revealed that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Mutational analysis showed that all the affected patients detected a heterozygous frameshift variation c.1255delT in the EYA1 gene, which had not been reported. Genotype and phenotype were co-isolated in this family. Such a frameshift variation produced a premature termination codon, thereby causing premature termination of translation (p.C419VFS*12). ACMG identified that the mutation was pathogenic. This mutation was novel and not detected in controls. A heterozygous missense variation mutation c.403G>A(p.G135S) in EYA1 gene was also detected in three members of this family. ACMG identified that the mutation clinical significance was uncertain. However, two of whom were normal, which seemed the disease was not caused by this mutation in this family. Conclusions: A novel frameshift mutation in EYA1(c.1255delT) is the main molecular etiology of BOS in the Chinese family. This study expands the mutational spectrum of EYA1 gene. The clinical manifestations are heterogeneous among patients in this family. The diagnosis of BOS should combine gene tests with clinical phenotypes analysis.
Branchio-Oto-Renal Syndrome/genetics* ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics* ; Mutation ; Nuclear Proteins ; Pedigree ; Protein Tyrosine Phosphatases/genetics*

·AIM: To evaluate the safety and postoperative complications of femtosecond laser - assisted small incision lenticule extraction (SMILE). ·METHODS: Retrospective case series. A total of 1127 patients (2 236 eyes) who were treated with SMILE for myopia or myopia astigmatism between June 2016 and May 2017 were enrolled in this study. Eyes that developed postoperative complications were noted and identified. The incidence, risk factors, management and prognosis were analyzed. The follow-up was 6mo. ·RESULTS: The rate of postoperative complications was 8. 05%, included diffuse lamellar keratitis (3. 31%), delayed visual acuity (2. 59%), minor interface residue (0. 63%), and ghost images ( 1. 52%). These complications had an impact on best corrected visual acuity (BCVA) at 3mo in only 1 eye with decentered ablation and was re-treated with topography-guided laser- assisted subepithelial keratomileusis (LASEK). Good visual outcomes were achieved in all eyes finally. · CONCLUSION: Although few eyes suffered postoperative complications, SMILE is an acceptable safe surgery. Careful surgical skill, appropriate surgical parameter, and rational postoperative medication can decrease the risk of complication.

Objective: To improve the understanding of the rare clinical presentation and management of purpura fulminans (PF) in patients with paroxysmal nocturnal haemoglobinuria (PNH). Methods: A case of PF occurring in PNH is reported, while the related literature review is conducted. Results: A 49-year-old male patient suffered from one-week history of fever, greenish-brown colour urine, multiple well demarcated and painful purpura of the head and neck. He had been reported to have two thromboembolic events during the 22-year course of PNH. Skin biopsy displayed classic PF features. Laboratory testing showed a high PNH clone, intravascular hemolysis and coagulation system changes. After sufficient anticoagulation and short course of glucocorticoid therapy, the clinical conditions were improved correspondingly. During a follow-up period of 6 month, there was no recurrence of thrombosis. Conclusion: PF should be considered in PNH patients with unexplained, quickly developed painful purpura. Extensive work-up should be performed to find out other potential thrombophilic risk factors after diagnosis of PF. Early diagnosis, adequate anticoagulation therapy and control hemolysis were essential to PF treatment occurring in PNH. The survival of patients and the qualities of life can be improved. The PNH clone detection is needed to evaluate the status of procoagulation and predict the risk of recurrent thrombosis.
Hemoglobinuria, Paroxysmal ; Hemolysis ; Humans ; Male ; Middle Aged ; Purpura Fulminans ; Thrombophilia ; Thrombosis

Ecological methodology plus negative binomial regression were used to identify dengue fever (DF) epidemiological status and its relationship with meteorological variables. From 2007 to 2012, annual incidence rate of DF in Guangzhou was 0.33, 0.11, 0.15, 0.64, 0.45, and 1.34 (per 100 00) respectively, showing an increasing trend. Each 1° C rise of temperature corresponded to an increase of 10.23% (95% Cl 7.68% to 12.83%) in the monthly number of DF cases, whereas 1 hPa rise of atmospheric pressure corresponded to a decrease in the number of cases by 5.14% (95% Cl: 7.10%-3.14%). Likewise, each one meter per second rise in wind velocity led to an increase by 43.80% or 107.53%, and one percent rise of relative humidity led to an increase by 2.04% or 2.19%.
Adult ; China ; epidemiology ; Dengue ; epidemiology ; Humans ; Weather ; Young Adult

Background Clinical effectiveness of intavitreal injection of glucocorticosteroid for macular edema has been verified,especially triamcinolone acetonide(TA).However,the efficacy and safety of combination of TA with macular laser grid photocoagulation for macular edema is concerned. Objective This clinical trial was to evaluate the efficacy and safety of intravitreal injection of TA combined with macular laser grid photocoagulation in the treatment of macular edema. Methods A case-cohort study was designed.One hundred and twenty eyes of 120 patients with macular edema from diabetes or retinal vein occlusion were included in this study.The patients were randomized into trial group and control group,with the matched age,course,visual acuity,intraocular pressure (IOP).The patients of the trial group received intravitreal injection of TA combined with macular laser grid photocoagulation,and those of the control group were managed with macular laser grid photocoagulation only.Best corrected visual acuity ( BCVA),optical coherence tomography(OCT),fundus fluorescein angiography(FFA) and IOP were examined before TA injection and 1 week,1 month,3 months,6 months after treatment and compared among different time points between two groups.Written informed consent was obtained from each patient prior to entering this trial. Results Compared with TA injection before,the BCVA was significantly elevated in the trial group 1 week,1 month,3 months and 6 months after TA injection( all P=0.000),however,no obvious improvement of visual acuity was found in the control group before and after treatment at any time point (P＞0.05 ).At various time points,the visual acuity was significantly improved in the trial group than the control group (P =0.037,0.000,0.002,0.046 ).Macular thickness was significantly decreased at various time points after TA injection in comparison with before TA injection in the trial group(all P=0.000),but no significant change in macular thickness in the control group between before and after treatment at any time point( P＞0.05 ).Macular thickness was lower in the trial group compared with the control group at various time points after treatment ( P＜0.05 ).Recurrence of macular edema was seen in 7 eyes ( 1 1.67％ ) 4-6 months,and the IOP raise( ＞21 mmHg)was found in 11 eyes( 14.1％ )after TA injection in the trial group.Conclusions Intravitreal injection of TA combined with macular laser grid photocoagulation can be an effective method in the treatment of macular edema.However,recurrence of macular edema or increase of IOP may occur in a few patients within 6 months after TA injection.A long-term follow-up should be performed for the evaluation of efficacy and safety after intravitreous injection of TA.

Adult ; Female ; Humans ; Influenza A Virus, H1N1 Subtype ; immunology ; Influenza Vaccines ; immunology ; Influenza, Human ; prevention & control ; Male ; Middle Aged ; Vaccination

OBJECTIVETo study the relation of the detection rates of the novel influenza virus A/H1N1 RNA in clinically confirmed patients in the 2009 pandemic with the age distribution of the patients and the disease course.

METHODSA total of 151 clinical patients with H1N1 infection were enrolled in this study, from whom 833 dynamic throat swab samples were obtained for detecting the H1N1 RNA using real-time PCR. A statistical analysis of the age distribution was performed among the patients with different disease courses. Chi-square for trend test was used to study the correlation between the detection rates of H1N1 RNA and the time of disease onset.

RESULTSThe majority of patients were young with their ages ranging from 10 to 20 years (57.26%) and 20 to 30 years (22.18%). Chi-square for trend test revealed that the positivity rates of the throat swabs in the patients decreased with the prolongation of the disease course (chi(2)=9.784, P=0.002).

CONCLUSIONMost of the H1N1 patients are young within the age range of 10-30 years, and the longest disease course can exceed 10 days. The positivity rates of throat swabs from the H1N1 patients decreases with the prolongation of the disease course.

Adolescent ; Adult ; Age Factors ; Child ; China ; epidemiology ; Female ; Humans ; Influenza A Virus, H1N1 Subtype ; genetics ; Influenza, Human ; epidemiology ; virology ; Male ; Pharynx ; virology ; RNA, Viral ; analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Young Adult