BCG Vaccine ; adverse effects ; Child ; Child, Preschool ; Genetic Diseases, X-Linked ; complications ; Granulomatous Disease, Chronic ; complications ; genetics ; Humans ; Infant ; Infant, Newborn ; Lymphadenitis ; etiology ; Male ; Membrane Glycoproteins ; genetics ; NADPH Oxidase 2 ; NADPH Oxidases ; genetics

2 g/L can′t excluded SCID.

Objective To identify the host-cell death pathways (apoptosis, autophagy or necrosis) in L929 cells at the time point of 48 hours post infection (h.p.i.) with Chlamydia muridarum.Methods L929 cells were infected with Chlamydia muridarum at a multiplicity of infection (MOI) of 0.85 for 48 hours.Nuclear fragmentation was observed under fluorescence microscopy following staining L929 cells with DAPI (4′,6-diamidino-2-phenylindole).L929 cells were stained with propidium iodide (PI) plus Annexin Ⅴ and then analyzed by fluorescence-activated cell sorting (FACS) to clarify whether apoptosis or necrosis occurred after Chlamydia muridarum infection.L929 cells were transiently transfected with GFP-LC3 and observed under fluorescent microscopy to analyze cell autophagy.Western blot assay was performed to detect LC3 protein for further analysis of autophagy.Results Apoptosis was not induced in L929 cells by Chlamydia muridarum infection at 48 h.p.i.as no significant nuclear fragmentation was observed.Results of FACS showed that most cells died due to necrosis.Moreover, fluorescent dots of GFP-LC3 formed after infecting transfected L929 cells with Chlamydia muridarum.An increased ratio of LC3Ⅰ to LC3Ⅱ in the L929 cells infected with Chlamydia muridarum was detected by Western blot assay, indicating that autophagy occurred during Chlamydia muridarum infection.Conclusion Necrosis and autophagy rather than apoptosis are induced in L929 cells 48 hours after infection with Chlamydia muridarum.

Our previous research indicated that the Streptomyces pactum Act12 (Act12) had a certain promotional effect on tanshinone accumulation and up-regulated the expression of genes 3-hydroxy-3-methyglutaryl-CoA reductase (HMGR) and 1-deoxy-d-xylulose-5-phosphate reductoisomerase (DXR) in Salvia miltiorrhiza hairy roots. This study focuses on the roles of reactive oxygen species in S. pactum Act12-induced tanshinone production in S. miltiorrhiza hairy roots. The 4% Act12, 4% Act12 + CAT and 4% Act12 + SOD were added to S. miltiorrhiza hairy root and subcultured for 21 days, the dry weight, contents of reactive oxygen species, contents of tanshinones and expression of HMGR and DXR were determined at different harvest-time. The generation of reactive oxygen species (ROS) in S. miltiorrhiza hairy roots was triggered by 4% Act12 treatment. The relative expressions of genes HMGR and DXR in 4% Act12 treatment were 32.4 and 4.8-fold higher than those in the control. And the total tanshinone in the hairy roots was 10.2 times higher than that of the control. The CAT and SOD could significantly inhibit the ROS accumulation and relative expressions of genes HMGR and DXR in 4% Act12 treatment, which induced the total tanshinone content was decreased by 74.6% comparing with the 4% Act12 treatment. ROS mediated Act12-induced tanshinone production. The Act12 may be via the ROS signal channel to activate the tanshinone biosynthesis pathways. Thereby the tanshinon content in hairy roots was increased.
Aldose-Ketose Isomerases ; genetics ; metabolism ; Diterpenes, Abietane ; biosynthesis ; Plant Proteins ; genetics ; metabolism ; Plant Roots ; enzymology ; genetics ; metabolism ; microbiology ; Reactive Oxygen Species ; metabolism ; Salvia miltiorrhiza ; enzymology ; genetics ; metabolism ; microbiology ; Secondary Metabolism ; Streptomyces ; physiology

Arteriovenous Malformations ; diagnosis ; etiology ; genetics ; Child ; Humans ; Immunoglobulin E ; blood ; Job Syndrome ; complications ; diagnosis ; genetics ; Lung ; diagnostic imaging ; pathology ; Male ; Mutation ; Radiography ; STAT3 Transcription Factor ; genetics

ObjectiveTo explore the curative effect in the patients with internal endometriosis by interventional therapy.MethodsUsing Seldinger technique,34 cases with internal endometriosis wereperformed bilateral uterine artery embolization.Observed postoperative menstrual quantity,dysmenrrhea degree,anemia and the change of the volume of uterine lesions.ResultsAll the patients were followed up for 1-3 years,menstrual quantity average decreasd of 59.1％P ＜ 0.05 ),the symptoms of dysmenorrhea was significantly eased in 28 cases (82.4％,28/34).All the patients of anemia haemoglobin were back to normal,volume of uterus average reduced 43.8％P ＜ 0.05 ),lesion was obviously smaller or disappear.Ultrasonography showed myometrium and blood flow signal of lesion was was obviously reduced.Conclusion Internalendometriosis by interventional therapy can get good results,symptoms improve significantly.

Craniofacial Dysostosis ; Humans ; Receptors, Fibroblast Growth Factor

OBJECTIVETo investigate the effect and mechanism of BSDW on the model of allergic rhinitis and the model of guinea pigs by histamine shocking in guinea pigs.

METHODUsing the model of allergic rhinitis in guinea pigs caused by 10% TDI, we observed the effect of BSDW on physiological and pathological symptoms of allergic rhinitis in guinea pigs, the effect of the levels of serum IgE and serum and nasal histamine. Using the model of guinea pigs by histamine shocking, we observed the effect of BSDW on physiological symptoms in guinea pigs.

RESULTBSDW significantly relieved the pathological symptoms of allergic rhinitis in guinea pigs, alleviated the hyperplasia of columnar epithelium, decreased the number of monocyte and eosinocyte compared with the model group. It also reduced the levels of serum IgE, and decreased the release of serum and nasal histamine. BSDW significantly prolonged the occurent time of gasping, eclampsia and death caused by shock, reduced the times of gasping in the model of guinea pigs by histamine shocking.

CONCLUSIONBSDW has significant effect against allergy. The mechanism relates to its effects of decreasing the levels of serum IgE and inhibiting the release of serum and nasal histamine.

Administration, Intranasal ; Animals ; Anti-Allergic Agents ; pharmacology ; Asarum ; chemistry ; Drug Combinations ; Drugs, Chinese Herbal ; pharmacology ; Female ; Guinea Pigs ; Histamine ; blood ; Immunoglobulin E ; blood ; Lamiaceae ; chemistry ; Male ; Nasal Mucosa ; immunology ; Plants, Medicinal ; chemistry ; Rhinitis, Allergic, Perennial ; immunology ; Scutellaria ; chemistry ; Toluene 2,4-Diisocyanate

OBJECTIVETo summarize clinical and molecular features of two children with autosomal recessive chronic granulomatous disease caused by CYBA mutations.

METHODThe clinical records and CYBA mutations were reviewed for analysis of infections and inflammatory complications.

RESULTThe first case was a girl diagnosed with "liver and spleen abscess" in our hospital when she was 2.9 years old, with past history of neonatal impetigo and recurrent purulent lymphadenitis and positive family history. The results of DHR123 flow-cytometry showed that positive phagocytes after phorbol ester (PMA) stimulation was 84.63%. CYBA mutation analysis showed that she had heterozygous 35C > T, Q3X and IVS-2A > G. The second case was a boy diagnosed with "sepsis (salmonella D)" when he was 4 years old with a past history of impetigo, sepsis, perianal abscess, skin infection and positive family history. The results of flow cytometry showed that positive phagocytes after PMA stimulation was 96.13%. CYBA mutation analysis showed that he had homozygous 35C > T, Q3X and his parents were all carriers. All of them had BCG related axillary lymphnode calcification.

CONCLUSIONA22CGD cases had recurrent purulent infections (skin, lymphnode, liver and spleen, lung, blood), DHR123 flow cytometric analysis helped the diagnosis of CGD, CYBA mutation analysis ascertained the diagnosis of A22CGD.

Child, Preschool ; Chromosome Aberrations ; DNA Mutational Analysis ; Female ; Genes, Recessive ; Granulomatous Disease, Chronic ; diagnosis ; genetics ; Homozygote ; Humans ; Male ; Mutation ; NADPH Oxidases ; genetics

The aim of this study was to investigate the polymorphism of microsatellite repeats DXS15, CA13, CA22 tightly linked to FVIII gene in Guangdong population and its practical value in genetic diagnosis for hemophilia A. The polymerase chain reaction (PCR) and capillary electrophoresis (CE) methods were adopted to test the variability of the 3 microsatellite repeat in Guangdong females, including 111 females, 222 X chromosomes for detecting DXS15 polymorphism; 87 females, 174X chromosomes for detecting CA13 polymorphism; 94 females, 188 X chromosomes for detecting CA22 polymorphism. The results indicated that 11 alleles corresponding to DXS15 were found at this locus with size ranging from 140 to 160 bp. The polymorphism information content (PIC) of this microsatellite repeat was 0.82, heterozygosity was 82%. Six alleles corresponding to CA13 were found, with a size from 145 to 155 bp, and PIC was 0.56, heterozygosity was 56.2%. Four alleles corresponding to CA22 were found with size ranging from 79 to 85 bp, and PIC was 0.41, heterozygosity was 50%. It is concluded that in contrast to the information about Caucasian, the polymorphism of these 3 microsatellites differs from race to race, and region to region. DXS15, CA13 and CA22 are highly polymorphic genetic markers useful for linkage analysis of haemophilia A, which may play a vital role in detection and prenatal diagnosis for hemophilia A.
Asian Continental Ancestry Group ; genetics ; DNA ; analysis ; Factor VIII ; genetics ; Female ; Hemophilia A ; genetics ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic ; Tandem Repeat Sequences