Background Congenital aniridia is a rare congenital autosomal dominant disease,which is shown as aniridia of double eyes,and the paired box gene 6 (Pax6) gene mutation is now known to be associated with congenital aniridia.Objective This study was to screen the Pax6 gene mutation in patients with congenital aniridia.Methods Eleven patients with congenital aniridia were enrolled in Tianjin Eye Hospital from August 2012 to October 2015,including 6 patients from 3 congenital aniridia family and 5 sporadic patients.All patients received routine ophthalmic examination.Peripheral venous blood of 3 ml was collected from the patients for DNA extraction according to the standard process of DNA isolation instructions,and all the exons of Pax6 gene,Elp4 gene,exon 5 ' and 3',intron splice sequence and SIMO sequence were amplified by PCR.Pax6 genes of the patients were sequenced using Sanger direct sequencing and multiplex ligation dependent probe amplification (MLPA) and compared with those of 500 ocular trauma patients.This study complied with Helsinki declaration,and written informed consent was obtained from each patient prior to any medical examination.Results Iris absence was found in all the patients,and the visions acuity was hand motion to 0.2.Lens dislocation was seen in 1 patient.Direct sequencing results found that three patients in AN-O1 family were c.688g＞t (p.E230X) mutation of Pax6 gene,and 3 of 5 sporadic patients carried c.468g＞a (p.W156X),c.613c＞t (p.Q205X) and c.141 +2t＞c mutant of Pax6 gene,and the c.688g＞t (pE230X) mutation was a novel-discovered mutation.No any mutation in Pax6,Elp4 gene and SIMO fragment was detected in 1 patient from AN-02 family,2 patients from AN-03 family and 2 sporadic patients by both direct sequencing and MLPA validation.No above-mentioned mutation was found in 500 normal individuals.Conclusions The mutation of Pax6 gene is a pathogenic mutation in congenital aniridia patients,and c.688g＞t (p.E230X) is a novel Pax6 mutant,which expanded the mutation spectrum of Pax6 gene.

Background Oculocutaneous albinism (OCA) is a hereditary disease of pigment absence in eyes,skin and hair due to the lack of congenital melanocyte.OCA is classified into 7 types based on different genetic mutations,and the mutation of tyrosinase (TYR) gene causes OCA type 1 (OCA1).OCA has obvious genetic heterogeneity and phenotypic heterogeneity.The molecular diagnosis of the mutant gene is helpful for the classification and molecular pathogenesis study of OCA.Objective This study was to screen the TYR mutation in OCA patients,and to analyze the association between the gene mutation type and clinical phenotype.Methods Ten patients with OCA were enrolled in Tianjin Ophthalmological Hospital from January 2011 to December 2014.The clinical and ocular manifestations of the patients were examined.Peripheral venous blood 3 ml was collected in the patients and their lineal relatives for the extraction of genomic DNA.Extracted DNA was amplified by PCR and the TYR gene sequence was analyzed,including all 5 exon coding sequence and exon 5 ' and 3' end and the non-coding region sequence of intron splicing in TYR gene.This study complied with Helsinki Declaration and the protocol was approved by Ethic Committee of Tianjin Eye Hospital.Informed consent was obtained from each subject.Results All the patients showed white or reddish hair and snow-white skin,and different degrees of pigment lack was seen in iris.The best corrected visual acuity of the patients was 0.05-0.2,and 3 patients complicated with nystagmus.Fundus findings showed a sunset-like change and dysplasia of macula.The TYR gene sequencing revealed that patient 1 was OCA1A subtype,with the compound heterozygous mutant of c.832C＞T (p.R278X) and c.1217C＞T (p.P406L),and his/her parents occurred the heterozygous mutation of exons P406L and R278X.The phenotype of the patient 1 was white hair and white iris.The patient 3 was OCA1B subtype,with the compound heterozygous mutations of c.1265G＞A (p.R422Q) and c.1217C＞T (p.P406L),showing an appearance of reddish brown hair and sallow iris.TYR gene mutant was not detected in other 8 patients.Conclusions The mutation of TYR gene is the main cause of OCA1 type.The phenotype of OCA1A subtype is no pigment in eyes and hair,and one of OCA1B subtype was obviously lessening of pigment.The difference of mutant genes of OCA is the cause of genetic and phenotypic heterogeneity.

This article introduces two medical records of children's influenza A (H1N1). The first case is a child of influenza A (H1N1) complicated with pneumonia and it is differentiated as warm-heat syndrome. The treatment methods are dispelling wind and relieving exterior syndrome, clearing heat in qi level and removing heat at first, and then followed by dispersing lung-qi and clearing away heat pathogen, relieving cough and dissipating phlegm. The second case is a child of influenza A (H1N1) complicated with pneumonia, hypokalemia and exacerbation of primary nephrotic syndrome. The syndrome belongs to wet-heat from the beginning, so the treatment is promoting urination and eliminating turbidity, clearing heat and detoxicating, and combined with antiviral oseltamivir. The syndrome is phlegm-heat obstructing in the lung in the second phase of the disease, and the treatment is removing heat-phlegm, dispersing lung-qi and relieving cough.

Objective: To explore the inhibition effects of ectogenic wild type p53 cDNA(Ad wtp53) on colorectal carcinoma cell lines with different p53 gene status and search for the role of wild type p53 tumor suppressor gene in occurrenc and progress of malignant tumor. Methods: MTT process was taken to choose optimal transfection titre. Three kinds of cell lines(p53 gene deletion, mutation and nomal) were transferred by Ad wtp53 in optimal titre. The inhibition effects of these cell lines were observed and compared. Results: The best titre is 1000 MOI and p53 gene deletion cell line (THC 8908) shew the highest sensitivity. G 1 S transition period blocking effects occurred in all cell lines and G 2 M phase regulation effects were not coincidence in three colorectal cell lines. Conclusions: Recombinant adenovirus mediated wild type p53 gene observably inhibited colorectal carcinoma cell lines growth and proliferation, blocked cell cycle in G 0 /G 1 phase and displayed obvious different actions on G 2 M phase among cell lines with different p53 status.

AIM:To investigate the molecular mechanism of Xijiao Dihuang decoction combined with Yinqiao powder (XDY) in treating viral pneumonia, and the effects of XDY on TNF-α-induced permeability in pulmonary microvascular endothelial cells (PMVEC) and the role of PKC-SSeCKS pathway involved.METHODS:The electric conductivity method was used to detect transendothelial electrical resistance (TER) of primarily cultured PMVEC on Transwell chamber at different time points to determine the permeability of PMVEC.After pretreatment for 24 h, the activity of PKC, TER, and the expression of SSeCKS at mRNA and protein levels were detected.Laser scanning confocal microscopy was used to observe the location of SSeCKS and construction of F-actin in PMVEC.RESULTS:The permeability of PMVECs induced by TNF-α reached the peak at 24 h.Compared with control group, the TER in TNF-α group was decreased, and the activity of PKC was increased.Compared with TNF-α group, the activity of PKC in TNF-α with PKC inhibitor group and TNF-α with XDY group was decreased, while the TER was increased, without difference from control group.Compared with control group, the mRNA expression of SSeCKS and phospho-SSeCKS was increased in PMVEC of TNF-α group, but decreased in TNF-α with XDY group compared with TNF-α group.In control group, F-actin was mainly located around the nucleus and at cytoplasmic borders of PMVEC, forming the dense peripheral bundle, and SSeCKS was evenly scattered in the cell.In TNF-α group, the dense peripheral bundle of F-actin surrounding the cells almost disappeared, and SSeCKS was concentrated around the nucleus.Compared with TNF-α group, the distribution and the structure of F-actin and SSeCKS nearly returned to normal in TNF-α with XDY group.CONCLUSION:XDY inhibits the activation of PKC signaling pathway in PMVEC caused by TNF-α to reduce the mRNA expression of SSeCKS and the phosphorylation of SSeCKS, thus preventing the deformation of endothelial cells and reducing the permeability of PMVEC.

OBJECTIVE: to investigate the origin characters of snore in simple snorers and provide the basis for its treatment. METHOD: Thirty-two simple snorers diagnosed by polysomnography were induced to sleep by propofol and dexmedetomidine, then we observed the vibration sites, pattern and concomitant collapse of soft tissue in pharyngeal cavity by nasendoscopy. RESULT: Thirteen cases showed palatal fluttering only, and 1 case showed vibration of epiglottis only. Six cases showed palatal fluttering with vibration of epiglottis, and 2 cases showed palatal fluttering with vibration of epiglottis and tongue base. Five cases showed palatal fluttering with vibration of pharyngeal lateral wall, and 5 cases showed palatal fluttering with vibration of lateral wall, epiglottis and tongue base together. Palate and pharyngeal lateral wall vibrated strongly and always collapsed with vibrating, but epiglottis and tongue base usually vibrated slightly and seldom collapsed. CONCLUSION The palatal fluttering is the main source of snoring sounds for most simple snorers, then followed by vibration of palatal and pharyngeal lateral wall together. The site of collapse in pharyngeal cavity is consistent with the main site of vibration.
Endoscopy ; Epiglottis ; physiopathology ; Humans ; Palate ; physiopathology ; Pharynx ; physiopathology ; Polysomnography ; Propofol ; Sleep ; Sleep Apnea, Obstructive ; Snoring ; diagnosis ; Tongue ; physiopathology

This study aimed at analyzing the medication regularity based on differentiation in traditional Chinese medicine (TCM) for losing weight using text mining technique.All the references over losing weight were retrieved in CNKI,Wangfang Database,VIP Database and Pubmed.The drugs from the references were classified in accordance with drug property,drug flavor,channel tropism and drug efficacy.Frequency and constituent ratio of a single drug in TCM prescriptions for losing weight were put into analysis using chi square test and factor analysis to find out the medication regularity.It was found that the properties of TCM drugs in the prescriptions contained both cold and warm,while the flavors of the drugs involved pungent,sweet and light.The channel tropism of the drugs mainly belonged to spleen meridian,liver meridian,stomach meridian and lung meridian.They were mostly tonic,relieving,blood-activating,qi regulating,inhibiting-damp and antipyretic drugs.Through factor analysis we found that the common formula compatibilities were concluded as:cassia seed,lotus leaf,hawthorn,salvia miltiorrhiza,polygonum cuspidatum and radix polygonum multiflorum;capillary artemisia,epimedium herb,stephania tetrandra and ligusticum wallichii;dried tangerine peel,pinellia ternata and poria cocos;plantain seed,pericarpium arecae and selfheal;paeonia lactiflora,angelica sinensis,scutellaria baicalensis and ligusticum wallichii;poria cocos,cassia twig,atractylodes and glycyrrhiza;immature bitter orange and bark of magnolia;radix bupleuri,lycium chinensis and jujube;Chinese yam and coix seed;and astragalus,pueraria lobata and polygonatum.In conclusion,formula compatibility mainly combined syndrome differentiation with disease differentiation for the treatment of obesity in clinic,using the drugs belonging to liver meridian,spleen meridian,stomach meridian and lung meridian with the flavors of sweet,bitterness or pungent and the nature of both warm and cold.

Objective To study the changes of endotoxin in blood,Escherichia coli,lactobacillus,bifidobacterium,enterococci in feces of HCC patients.Methods Real-time fluorescence quantitative PCR was used to detect the difference between HCC group and normal group in the expression in bifidobacterium,lactobacillus,enterococcus and Escherichia coli,and the difference of endotoxin level.Results The expression levels of Escherichia coli and enterococcus in HCC group were significantly higher than those in normal control group (P＜ 0.05).Bifidobacterium and lactobacillus in primary liver cancer group significantly decreased compared with the normal group (P ＜ 0.05).The serum endotoxin level in HCC group was significantly higher than that in normal control group (P ＜ 0.05).Bifidobacterium and lactobacillus increased in HCC group.Enterococcus and escherichia coli decreased in HCC group.There was a significant positive correlation between endotoxin content and tumor number and tumor diameter in HCC patients.Conclusion Bifidobacterium,lactobacillus decreased,enterococcus and Escherichia coli increased in HCC patients.These changes along with the increase of endotoxin may relate to the development of HCC.

Objective:To understand the cognition and training status of basic life support among medical staff in Linfen, Shanxi Province, and to provide reference for the development of targeted training strategies and programs.Methods:A questionnaire survey was conducted among medical staff in 12 county hospitals in Linfen, Shanxi Province by convenience sampling method. The survey included the general characteristics of departments and medical staff, previous basic life support training assessment and cognitive status.Results:A total of 839 medical staff were included, 756 (90.1%) completed the survey, 183 (24.2%) were doctors and 573 (75.8%) were nurses. Most personnel lacked awareness of environmental safety, emergency response system start-up, adequate compression, airway management, and electrical defibrillation.Conclusions:The cognitive status of basic life support of medical staff in Linfen county is not optimistic. It is necessary to construct an applicable precision training course and retraining assessment system to improve the cognitive level and practical operation ability.