Objective Two Chinese pedigrees with congenital factor Ⅻ(FⅫ)deficiency were enrolled in the present study,and studies on the clinical manifestations,family survey,biochemical examinations and gene diagnosis of these pedigrees were performed.Methods In October 2014-2015 March,two cases of hereditary FⅫ deficiency patients were included in Xinhua hospital.Activated partial thromboplastin time(APTT),FⅫ procoagulant activity(FⅫ:C),FⅫ antigen(FⅫ:Ag)and other parameters of coagulant were detected.The FⅫ deficiency pedigree members,exons 1-14,boundary introns including the splice junctions of the F12 gene were amplified with polymerase chain reaction(PCR).Direct sequencing was exerted to purified PCR product to detect the gene mutation.If the gene mutations were found,polymorphism should be ruled out by directing sequence.One hundred and three healthy persons as normal controls.Results The two probands were manifested prolonged APTT(101 s and 143 s).They showed lower FⅫ activity and FⅫ antigen(2％and 6％,0.4％and 4％,respectively).FⅡ:C,FⅦ:C,FⅧ:C,FⅨ:C,FⅩ:C and Fg are normal in the two probands.LAC is negative.Proband 1 has c.1285C>T(p.Q429 stop)mutation.His parents and son have the heterozygous mutation in the same position.Proband 2 has c.1556T>C(p.L519P)mutation.Her two sons have the heterozygous mutation in the same position.In the promoter regions of F12 gene,there were common 46C/T and 619 G/C polymorphisms in two pedigrees.Conclusion c.1285C>T(p.Q429 stop)and c.1556T>C(p.L519P)are the cause of FⅫ deficiency.

Objective To develop new surgical first aid kits for combat readiness ,and increase the ability of field first aid .Methods On the basis of disposable surgical kits ,the surgical towels were improved .The water absorbing layer was made of SPA materials which inte-grated optimization for surgical use .Results The new surgical first aid kits for combat readiness have the surgical towels with strong water absorption,complete sterile materials,and short time for ready of supplies.Conclusion The new surgical first aid kits for combat readiness have the advantages of small volume ,practicability,available for surgery ,at the same time,which could keep the surgical incision dry and the temperature of patients stability and be helpful to decrease the risk of pressure ulcer and infection ,simplify work procedure .

OBJECTIVE To study the detectable rate and the antibiotic resistance of Staphylococcus aureus from detention needles of burn patients,and provide instruction of clinic reasonably using antibiotics and clinical treatment.METHODS Totally 175 specimens detention needles of from burn patients were collected to isolate pathogenic organisms.Identification of bacterial strains and susceptibility tests were performed by ATB system.RESULTS S.aureus isolated from the detention needles of burn patients was the predominant pathogen,accounted for 60.3%,and all of them were MRSA.Among these flora,all were resistant to penicillins,oxacillin and gentamicin and more than 50.0% were resistant to lincomycin,tetracyc1ine,rifampicin and so on,2.3% were resistant to minocycline and teicoplanin,and none was resistant to vancomycin, fusidic acid,and quinupristin-dalfopristin.CONCLUSIONS S.aureus isolated from the detention needles of burn patients is the predominant pathogen, which is resistant to many antibiotics.So we should identify the bacterial strains and give susceptibility tests of detention needles from burn patients promptly,in order to provide best instruction on clinic reasonably using antibiotics and slow the development of the resistant bacterial flora.

Objective To investigate the relationship of glycosylated hemoglobin A1C(HBA1c) and 2 hour postprandial blood glucose(2hPBG) with 12-hour urinary albumin excretion rate(UAE).Methods One hundred and thirteen patients with type 2 diabetes mellitus(T2DM),whose fast blood glucose(FBG) levels after treatment were less than 7.0 mmol/L,and 54 healthy subjects were the control group in this study.The level of HBA1c was detected by high performance liquid chromatography(HPLC).The level of 2hPBG was measured by glucose oxidase assay and the level of UAE was detected by radioimmunoassay.According to the level of HBA1c and 2hPBG,the patients were divided into 4 groups: group A(HBA1c7% and PBG

Objective To analyze the epidemiology and clinical characteristics of acquired immunodeficiency syndrome (AIDS) and pulmonary tuberculosis (TB) co-infection.Methods A retrospective study was conducted with the clinical data of patients diagnosed with AIDS and TB in Shanghai Public Health Clinical Center during the period from 2011 to 2015.The outcome of the patients were evaluated by outpatient and telephone follow-up.The data were analyzed by descriptive analysis using SPSS 22.0 software package.Results A total of 359 patients with AIDS/TB co-infection were included in this analysis,including 325 males and 34 females,the highest proportion in 30-44 age group.The diagnosis was delayed in about 42.6％ of the patients.The clinical symptoms were mainly fever,cough and weight loss,but hemoptysis uncommon.Both lungs were affected in most cases,with lesions in at least 3 lung fields,but rare pulmonary cavity.T-SPOT.TB test showed lower positive rate.CD4+T lymphocyte count was 50 cells/μL or less in 50.7％ of the patients at their first test.About 43.5％ of the 69 patients with antimicrobial susceptibility data showed resistance to therapy.Majority (93.2％) of the patients with known viral status received antiretroviral treatment.Extra-pulmonary tuberculosis was identified in 282 cases.The complication and opportunistic infection included central nervous system infection,syphilis,hepatitis B virus infection,hepatitis C virus infection,pulmonary infection,and drug-induced liver injury.Of the 333 patients with known outcome,53 died,most (79.2％,42/53) within 6 months.Conclusions The patients with AIDS/TB co-infection showed higher proportion of young people.The CT finding was atypical.The patients showed lower positive rate for T-SPOT TB test and lower CD4+T lymphocyte count at their first test.Most patients had extra-pulmonary tuberculosis and other complications or opportunistic infections.

Objective To study the GPⅡb/Ⅲa gene mutations of eight glanzmann thrombasthenia(GT) pedigrees. Methods Responses of eight probands to different agonists were observed by platelet aggregation test and the amount of αⅡb and β3 was determined by flow cytometry. All the exons of Ⅱb and Ⅲ a genes were amplified by PCR followed by sequencing for mutational screening. Further analysis of the normal population excluded the possibility of mutational sites as a polymorphism. Results Eight probands showed normal PLT counts, dispersion of the platelet particles without aggregation, prolonged bleeding time and severely reduced platelet aggregation in response to the physiological agonists- ADP, epinephrine, and collagen, but relatively normal aggregation of PLT in response to ristocetin. Flow cytometry showed that all probande were Ⅰ type GT, except that proband 2 was Ⅲ type GT and proband 6 was Ⅱ type GT. The sequencing results showed that twelve different types mutations were present in eight probands, including GIOA, Gl412T, GII99A, 1525deiC, G2223T, C2671T, 2930delG, IVSI5 (-1) delG, A2334C, C1750T, 69-79del and CA70A. We were not able to detected any mutations in GP Ⅱb/Ⅲa gone on proband 3. Conclusions GT is mainly caused by GPⅡb/Ⅲa gene mutations. G10A, 69-79del, C470A,G1412T, G2223T, C2671T and 1525delC were the novel mutations causing GT.

Objective To identify the gene mutations of platelet membrane glycoprotein Ⅱ b,Ⅲa(GPⅡb/Ⅲa)in three Chinese pedigrees with Glanzmann thrombastIlenia.Methods All exons and exonintron boundaries of GP Ⅱ b/Ⅲ a gene were amplified by PCR analysis followed by DNA sequencing.DNA sequencing was used to exclude gene polymorphisms.Results The probands in the three pedigrees had a normal platelet count,coagulation profiles,scattered platelets on the blood film,a prolonged cutaneous bleeding time,and impaired or minimal ex vivo platelet aggregation in response to ADP,thrombin,collagen,adrenaline and arachidonic acid,but normal platelet aggregation in response to ristoeetin.Both FACS and Western blotting demonstrated trace content of αⅡb in the platelets from proband 1 and proband 3,who were classified as type Ⅰ GT,and a small amount of αⅡb in the platelets from proband 2,who was classified as type Ⅱ GT.Compound heterozygous mutations,T2255G(Leu721Arg)and C2671T(Gln860Stop)were identified in proband 1.The proband 2 had homozygous A2334C(Gln747Pro)missense mutation.Nonsense mutations C1750T (Arg584Stop)and 69-79 deletion mutation were identified in proband 3. Conclusions Compound heterozygous mutations T2255G and C2671T of αⅡb gene lead to type Ⅰ Glanzmann thrombasthenia for proband 1. Homozygous mutation A2334C of αⅡb gene leads to type Ⅱ Glanzmann thrombasthenia for proband 2. Compound heterozygous mutations C1750T and 69-79del αⅡb gene lead to type Ⅰ Glanzmann thrombasthenia for proband 3. T2255G,C1671T and 69-79del aye novel mutations for αⅡb gene.

PURPOSE: Uridine-cytidine kinase (UCK) 2 is a rate-limiting enzyme involved in the salvage pathway of pyrimidine-nucleotide biosynthesis. Recent studies have shown that UCK2 is overexpressed in many types of cancer and may play a crucial role in activating antitumor prodrugs in human cancer cells. In the current study, we evaluated the potential prognostic value of UCK2 in breast cancer. METHODS: We searched public databases to explore associations between UCK2 gene expression and clinical parameters in patients with breast cancer. Gene set enrichment analysis (GSEA) was performed to identify biological pathways associated with UCK2 gene expression levels. Survival analyses were performed using 10 independent large-scale breast cancer microarray datasets. RESULTS: We found that UCK2 mRNA expression was elevated in breast cancer tissue compared with adjacent nontumorous tissue or breast tissue from healthy controls. High UCK2 levels were correlated with estrogen receptor negativity (p<0.001), advanced tumor grade (p<0.001), and poor tumor differentiation (p<0.001). GSEA revealed that UCK2-high breast cancers were enriched for gene sets associated with metastasis, progenitor-like phenotypes, and poor prognosis. Multivariable Cox proportional hazards regression analyses of microarray datasets verified that high UCK2 gene expression was associated with poor overall survival in a dose-response manner. The prognostic power of UCK2 was superior to that of TNM staging and comparable to that of multiple gene signatures. CONCLUSION: These findings suggest that UCK2 may be a promising prognostic biomarker for patients with breast cancer.
Biomarkers ; Breast Neoplasms* ; Breast* ; Dataset ; Estrogens ; Gene Expression ; Humans ; Neoplasm Metastasis ; Neoplasm Staging ; Phenotype ; Prodrugs ; Prognosis* ; RNA, Messenger ; Uridine Kinase*

This article was aimed to study immunomodulatory effect of chemical split fractions ofMori Cortex, in order to initially explain effective parts that played a role in immunomodulatory effect ofMori Cortex. The carbon clearance test, serum hemolysin test, E-rosette test, and lymphocyte transformation test were carried out to explore influence of these chemical split fractions ofMori Cortex on immune organs, nonspecific immunity, humoral immunity and cellular immunity. The results showed that in the carbon clearance test, 50% ethanol fraction markedly reduced the thymus index (P<0.01) and the correction indexα (P<0.05). In hemolysin test, the half value hemolysis (HC50) was improved by 30% ethanol fraction and fatty oil fraction (P<0.05). Besides, in the E-rosette test, the E-rosette ration was increased in the 30% ethanol fraction group (P<0.05). In the lymphocyte transformation test, the 30% ethanol fraction can promote the thymus and spleen lymphocytes proliferation (P<0.05 orP<0.01), while the 50% ethanol fraction inhibited the proliferation (P<0.05 orP<0.01). It was concluded that the 30% ethanol fraction can boost both the humoral immunity and cellular immunity; the 50% ethanol fraction can induce the growth of thymus with a suppressive effect on nonspecific immunity and cellular immunity; the fatty oil fraction can improve humoral immunity.

This study was aimed to investigate the antitussive, expectorant and antiasthmatic effects of aqueous extracts and the chemical split fractions ofMori Cortex. Cough mice models induced by ammonia water were used to observe the effect on arresting cough. The phenol red expectoration method in mice was used to observe the effect on expelling phlegm. Histamine and acetylcholine mixture induced asthma model was used to observe the effect on relieving asthma. Isolated trachea model was used to observe the effect on relieving spasm. Compared with the control group, the low, medium and high doses of aqueous extracts ofM. Cortex can obviously decrease the frequency of cough, increase phenol red output of trachea in mice, prolong the latent period of asthma in guinea pigs, and increase the antispasmodic rate. The medium dose had the best effect. The comparison between different chemical split fractions ofM. Cortex and the control group showed that the 30% and 50% ethanol fraction ofM. Cortex can obviously decrease the frequency of cough and prolong the latent period of cough induced by ammonia water in mice, increase phenol red output of trachea in mice (P<0.05 orP<0.01); and 30% ethanol fraction and fatty oil fraction can prolong the latent period of asthma in guinea pigs (P< 0.05 orP<0.01). In addition, 30% ethanol fraction can obviously reduce the degree of tracheal contraction. It had certain effect of relieving spasm. It was concluded that aqueous extracts ofM. Cortex had better effects on relieving cough, expectorant and antiasthma. The effective part was the 30% ethanol fraction, which was the dose equivalent of 1/3 of the medium dose. It had significant effect on relieving cough, expectorant and antiasthma. The effect was equivalent to the medium dose of aqueous extracts of M. Cortex.