Objective To investigate the clinical features of and gene mutations in a Chinese Han pedigree with piebaldism. Methods Clinical data were collected with informed consent from a pedigree with piebaldism, processed and documented. A clinical genetic analysis was conducted and pedigree chart was drawn. Genomic DNA was extracted from the peripheral blood of 14 patients and 40 unaffected individuals in the family as well as 50 unrelated human controls, and subjected to the amplification of 21 exons and flanking sequences of the KIT gene by PCR. Sequence analysis was performed by Mutation SurveyorTM. Results There were 73 members in the family, and of them, 14 were diagnosed with piebaldism according to typical clinical features. Piebaldism was inherited in an autosomal dominant pattern in this family. A heterozygous 4-base insertion mutation 1900insATGA in exon 13 of KIT gene was identified in all the 14 affected family members, which resulted in a frame-shift mutation at codon 634 and produced a premature translation termination codon. This mutation was undetected in either the unaffected family members or unrelated controls. Up to the time of this writing, this mutation had not been previously reported. Conclusion The novel mutation 1900insATGA in the KIT gene may be the cause of clinical phenotype of piebaldism in the family.

Objectives To investigate the clinical significance of CYP2C19 genotype detection for antiplatelet therapy of elder cardiovascular and cerebrovascular diseases(CCVD).Methods We enrolled all elderly patients with either cardiovascular or cerebrovascular disorders who received clopidogrel as mono drug or in combination with another antiplatelet drug aspirin as secondary prevention for more than 12 months in our hospital from January to August 2015.Somatotypes of CYP2C19 genotypes of all participants were assessed to analyze the relapse of cardiac-cerebral vascular diseases in these patients.Results A total of 250 patients were enrolled,including 179 male and 71 female,with average age of (85.2 ± 7.9) years.Among these patients,there were 97 (38.8％) cases with EM CYP2C19 genotypes,110 cases(44.0 ％) with IM CYP2C19 genotypes,43 cases(17.2 ％) with PM CYP2C19 genotypes.When treated with clopidogrel for antiplatelet in secondary prevention process,the rate of the relapse in cardiovascular event was 34.9％ and higher in PM CYP2C19 genotype than in EM and IM CYP2C19 genotype (19.6 ％ and 15.5 ％,respectively) (x2 =7.251,P =0.027).This phenomenon was similar to patients who received stent implantation(x2=6.393,P =0.041).However,no statistically significant difference was observed in the recurrence rate of cerebral vascular disease between three different genotypes(EM 29.9 ％,IM 20.0 ％,PM 27.9％,x2 =2.880,P =0.237).Conclusions Our results highlight that CYP2C19 genotype might be a potential guidance for secondary prevention of cardiovascular and cercbrovascular disorders among elderly patients.Clopidogrel may be less effective in patients with SM CYP2C19 genotype than those with EM or PM CYP2C19 genotype for secondary prevention of cardiovascular disease.

C1q /TNF-related proteins (CTRPs)belong to the same category of C1q /TNF-related protein family,mainly secreted by adipose tissue and widely expressed in human and rodent.Their function turned out to be metabolic modulation,cardiovascular system protection and suppression of inflammation.But for metabolic modulation,enhancing the synthesis of glycogen,promoting fatty acid uptake and oxidation,in-creasing insulin sensitivity is the major role of CTRPs playing in governing the metabolism.Each CTRP has its own unique tissue expression profile and nonredundant function in regulating sugar and /or fat metabo-lism.In this review we focus on the recent progress about the metabolic function of CTRPs.

The noninvasive measurement of liver stiffness (LS) was evaluated by transient elastography (FibroScan) and the possible influencing factors from the patients' clinical situations including age, gender, liver inflammation represented by alanine transaminase (ALT) and total billirubin (TBIL) level, HBV replication (HBV DNA loads), portal vein pressure (portal vessel diameter, PVD), splenic thickness (SPT) and body mass index (BMI) were analyzed in patients with chronic hepatitis B (CHB). A total of 466 patients including 31 patients with acute-on-chronic liver failure (ACLF), and 435 patients with chronic hepatitis B (CHB) among which 82 patients were diagnosed with liver cirrhosis (LC) by clinical manifestations and liver B-type ultrasonic inspection were enrolled at Tongji Hospital from April to December 2009. LS was measured by a FibroScan device (EchoSens, France). Simultaneously, ALT and TBIL levels, HBV DNA loads, PVD, SPT and BMI in all patients were also tested. Forty-one healthy volunteers served as controls. The values of LS were correlated positively with ages of CHB patients and significantly higher in males than in females. In patients with BMI>28 kg/m(2) (obesity) and abnormal levels of ALT and TBIL, LS values were significantly increased as compared with those having normal levels of ALT and TBIL. The patients with ACLF had the highest LS value. Furthermore, LS values in the patients with LC were significantly higher than those in patients without LC. It is concluded that noninvasive measurement of liver fibrosis by FibroScan provides an alternative method to evaluate liver fibrosis of patients with CHB. In order to properly illustrate the stiffness value taken by transient elastography, patients' gender should be taken into consideration and it is also suggested to avoid possible influencing factors including liver inflammation (high levels of ALT and TBIL) and obesity (high BMI).

The potential biodegradation of crude oil was assessed based on the development of a fermentative process with a strain of Pseudomonas aeruginosa which produced 15.4 g/L rhamnolipids when cultured in a basal mineral medium using glycerol as a sole carbon source. However, neither cell growth nor rhamnolipid production was observed in the comparative culture system using crude oil as the sole carbon source instead. As rhamnolipid, an effective biosurfactant, has been reported to stimulate the biodegradation of hydrocarbons, 1 g/L glycerol or 0.22 g/L rhamnolipid was initially added into the medium to facilitate the biodegradation of crude oil. In both situations, more than 58% of crude oil was degraded and further converted into accumulated cell biomass and rhamnolipids. These results suggest that Pseudomonas aeruginosa could degrade most of crude oil with direct or indirect addition of rhamnolipid. And this conclusion was further supported by another adsorption experiment, where the adsorption capacity of crude oil by killed cell biomass was negligible in comparison with the biologic activities of live cell biomass.
Biodegradation, Environmental ; Cell Culture Techniques ; methods ; Cell Proliferation ; drug effects ; Glycolipids ; pharmacology ; Petroleum ; metabolism ; microbiology ; Pseudomonas aeruginosa ; drug effects ; growth & development ; metabolism ; Water Pollutants, Chemical ; metabolism ; Water Purification ; methods

Objective To determine the efficiency of microwave heating of the conjunctival sac flushing liquid combined with disposible blood transfusion device to prepare for laser-assisted in situ keratomileusis (LASIK).Methods A total of 150 healthy myopia patients undergoing LASIK in Myopia Treatment Center of our hospital from February to August 2013 were divided into two groups randomly according to operation date,75 patients in each group.The observation group used a microwave oven to heat the flushing liquid connected with a disposable blood transfusion device.The control group used a hot water bath to heat the flushing liquid,which was then connected to a disposable infusion device.The heated liquid by both methods was applied to conjunctival sac flushing before LASIK.The time required for liquid heating was recorded and the outcome of the conjunctival sac flushing was compared between the two groups.Results The time required by the observation group and the control group of heating flushing fluid from 5,10,15,20,25 and 30 ℃ to (36.0±1.0) ℃ was 124,104,84,64,44,24 s and 372,312,252,192,132,72 s,respectively.The conjunctival sac flushing effect comparison between the observation group and the control group was as follows:in four indicators such as the operation cooperation,conjunctiva congestion,spasm of eyelid,eye pain,there was no significant difference between two groups; for tear fat deposition,there was significant difference between two groups (4 cases vs.15 cases,x2=7.292,P ＜ 0.01).Conclusions Microwave heating of the conjunctival sac flushing liquid connected with a disposable blood transfusion device is efficient,safe and easy to operate.Therefore,it gains approvement and high opinion of medical workers and is worth being popularized in clinic.

AIM:To investigate the gene expression profile of human lung squamous cell carcinoma in early stage.METHODS:The mRNA was extracted from cancer tissue and normal lung tissue.The mixed probes were labeled and hybridized with chip containing 480 carcinoma related genes,then analyzed by SuperArray Image software to study the gene expression patterns in lung squamous cell carcinoma.RESULTS:192 genes associated with lung squamous cell carcinogenesis were found,which were grouped into transporter,adhesion molecules,cytoskeleton proteins,transcription regulator,genes associated with metabolism and immune response according to functions.127 gens were positive to lung squamous cell carcinogenesis and 65 genes were negative to lung squamous cell carcinogenesis.CONCLUSION:The screen of gene expression profile of human lung squamous cell carcinoma provides valuable information for the research of molecular mechanism of the lung squamous cell carcinogenesis.

BACKGROUNDTo characterize the intertype epitopes on human adenovirus (HAdV) hexon.

METHODSBased on computerized analysis on adenoviruses sequence of genomic alignment, antigenicity prediction and 3-D structure characteristics of hexon subunit, several peptides of hexon of adenoviruses were chosen to be synthesized or recombinant proteins of the hexon were expressed in E. coli by use of PGEX-5X. To identify the existence of intertype epitopes, the antisera raised with synthetic peptides or purified recombinant proteins were analyzed with Western blot and immunofluorescent assay.

RESULTSThe results of Western blot indicated that both peptide and recombinant antibodies showed specific reactivities with hexons of HADv-3, 4, 7 individually. Meanwhile, typical stain of immunofluorescence was found on HeLa cells infected with these HAdV by incubation with peptide as well as recombinant antibodies. Also, antibodies raised against peptide recognized the recombinant hexon protein in which a corresponding region of peptides was covered.

CONCLUSIONSMost of the predicted intertype epitopes of HAdV hexon wer e exclusively found in synthetic peptides and recombinant proteins. These intertype epitopes showed to be continuous and sequential which could be employed for development of antibodies of diagnostic use.

Adenoviruses, Human ; immunology ; Amino Acid Sequence ; Animals ; Capsid ; chemistry ; immunology ; Capsid Proteins ; immunology ; Epitopes ; immunology ; HeLa Cells ; Humans ; Mice ; Peptide Fragments ; immunology

ObjectiveTo compare the levels of sFas in the sera among Kawasaki disease (KD),incomplete Kawasaki disease (IKD),and normal control groups,and to analyze the relationship of sFas with IKD children.MethodsA total of 32 cases of acute KD and acute IKD children,and 20 cases of the control children were selected,respectively.The levels of serum sFas among three groups were measured using ELISA kits.Each child among the three groups was examined by echocardiography.Results(1)The levels of serum sFas among the three groups were[ (0.54±0.20)ng/L in KD,(0.55±0.16)ng/L in IKD,and (0.24 ± 0.04) ng/L] in control group,respectively.The overall means of sFas in the KD and IKD groups were higher than the control group,and the differences were statistically significant( F=29.276,P＜0.05 ).(2)The levels of serum sFas among echocardiography abnormal and normal groups were[ (0.65±0.19) ng/L and (0.49±0.10)ng/L],respectively; and the difference between two groups were statistically significant ( t=3.139,P ＜ 0.05 ).ConclusionsThe expression levels of sFas in the peripheral serum of IKD children were increased,and there was a close association of overexpression of sFas with the cardiovascular damage in IKD children.

Objective To investigate the effect of statin therapy on pneumonia and stroke outcome after acute ischemic stroke.Methods The patients with pneumonia after acute ischemic stroke were enrolled retrospectively.The demographic and clinical data of the patients were collected,including whether using statins,the clinical features of pneumonia,the days of using antibiotics,and neutrophil count.They were divided into either a statin group or a control group according to whether they used statins or not.Stroke outcome was evaluated with the modified Rankin scale.Results A total of 53 patients with pneumonia after acute ischemic stroke were enrolled in the study,20 of them were in the statin group and 33 were in the control group.There were no significant differences in age and the proportions of male and complicated with hypertension,diabetes and coronary heart disease between the statin group and the control group (all P ＞ 0.05).The cure rate,improvement rate,invalid rate and mortality in the statin group were 50.00％,35.00％,15.00％ and 0.00％,respectively; and in the control group were 15.15％,39.40％,33.30％ and 15.15％,respectively.There were significant differences (P =0.003).The days of temperature returning to normal (2.10 ± 3.29 d vs.4.61 ±3.54 d; P =0.002),pulmonary rales disappearing (3.60 ±2.46 d vs.7.67 ±4.09 d; t =-4.019,P =0.000)and using antibiotics (7.05 ± 3.13 d vs.9.73 ± 4.00 d; t =-2.562,P =0.013) in the statin group were significantly shorter than those in the control group,while there were no significant differences in the days of cough and sputum production retuming to normal between the 2 groups.The proportions of diabetes (20.83％ vs.55.17％ ;x2 =6.473,P =0.011),posterior circulation stroke (4.7％ vs.27.59％ ; P =0.031)and bilateral lung shadows (29.17％ vs.55.17％ ;x2 =5.705,P=0.017),as well as baseline National Stroke Association NIH Stroke Scale (NIHSS) score (4.00 ± 4.54 vs.10.66 ± 6.33; t =1.898,P =0.001) in a good outcome group were significantly lower than those in a poor outcome group.But there was no significant difference in the proportion of the patients treated with statins between the good outcome group and the poor outcome group (41.67％ vs.34.48％ ;x2 =0.288,P =0.591).Multivariate logistic regression analysis showed that diabetes (odds ratio [OR] 5.146,95％ confidence interval [CI] 1.166-22.709; P =0.031) and baseline NIHSS score (OR 1.251,95％ CI 1.080-1.449; P =0.003) were the independent risk factor for patient with poor outcomes.Conclusions Statins may promote the pneumonia recovery in patients with acute ischemic stroke; however,it has no effect on stroke outcome.