2.Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations.
Jian-xin HE ; Shun-ying ZHAO ; Bao-ping XU ; Ying-hui HU ; Kun-ling SHEN ; Zai-fang JIANG
Chinese Journal of Pediatrics 2011;49(11):853-857
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
3.Research progress on geographic distribution new records of medicinal plants in Guizhou.
Wen-Fen XU ; Shun-Zhi HE ; Yue-Yun WANG ; Qing-Wen SUN
China Journal of Chinese Materia Medica 2008;33(5):594-597
To introduce the advance on the species, ecological environment, distribution areas, the number of the species and efficacy of geographic distribution new records of medicinal plants in Guizhou. This article provides a basis for the collection and conservation as well as reasonable development of the genetic resources of medicinal plants.
China
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Drugs, Chinese Herbal
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pharmacology
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Geography
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Plants, Medicinal
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chemistry
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growth & development
4.Effect of recombinant adenovirus Ad-DT-A in targeted therapy for malignant cancer cell lines with loss of IGF2 imprinting.
Yu-qin PAN ; Bang-shun HE ; Chan ZHU ; Li-li QU ; Xiong-fei XU ; Shu-kui WANG
Chinese Journal of Oncology 2011;33(11):816-821
OBJECTIVETo explore the feasibility of IGF2 imprinting system in target gene therapy for tumors.
METHODSThe mouse H19 enhancer, DMD and promoter H19 were amplified by PCR from mouse genomic DNA and then cloned into the plasmid pDC312. The EGFP and DT-A fragments were amplified by PCR and cloned into the recombinant plasmid, and then the shuttle plasmid were transfected into HEK293 cells together with the adenoviral vector Ad5, namely, Ad-EGFP and Ad-DT-A. Adenovirus hexon gene expression was applied to confirm the presence of adenovirus infections. The effect of the IGF2 imprinting system was tested by fluorescence microscopy. RT-PCR and Western blotting after transfection of the recombinant adenoviral vectors into cancer cells were used to show loss of IGF2 imprinting (LOI) and maintenance of IGF2 imprinting (MOI), respectively. The anti-tumor effect was assessed by MTT and flow cytometry after the HCT-8 (LOI). Human breast cancer cell line MCF-7 (MOI) and human normal gastric epithelial GES-1 (MOI) cell line were transfected with Ad-DT-A in vitro. The anti-tumor effect was detected by injecting the Ad-DT-A in nude mice carrying HCT-8 tumors.
RESULTSThe expression of EGFP protein, DT-A mRNA and DT-A protein were seen to be positive only in the HCT-8 tumor cell line. Infection with Ad-DT-A resulted in obviously growth inhibition in HCT-8 cells (75.4 ± 6.4)% compared with that in the control group, and increased the percentage of apoptosis in the HCT-8 cells (20.8 ± 5.9)%. The anti-tumor effect was further confirmed by injecting the recombinant adenoviruses in HCT-8 tumor-bearing nude mice, and the results showed that the Ad-DT-A inhibited the tumor growth, with on inhibition rate of 36.4%.
CONCLUSIONSThe recombinant adenoviruses carrying IGF2 imprinting system and DT-A gene have been successfully constructed, while Ad-DT-A can effectively kill the tumor cells showing loss of IGF2 imprinting. It might play an important role in future target gene therapy against malignant tumors based on loss of IGF2 imprinting.
Adenoviridae ; genetics ; Animals ; Apoptosis ; Breast Neoplasms ; genetics ; pathology ; Colonic Neoplasms ; genetics ; pathology ; therapy ; Diphtheria Toxin ; biosynthesis ; genetics ; Female ; Genetic Therapy ; methods ; Genetic Vectors ; Genomic Imprinting ; Green Fluorescent Proteins ; biosynthesis ; genetics ; Humans ; Insulin-Like Growth Factor II ; genetics ; metabolism ; MCF-7 Cells ; Mice ; Mice, Nude ; Neoplasm Transplantation ; Peptide Fragments ; biosynthesis ; genetics ; Plasmids ; RNA, Messenger ; metabolism ; Random Allocation ; Recombinant Fusion Proteins ; biosynthesis ; genetics ; Transfection
5.Changes of cranio-facial hard tissue after orthodontic treatment in bimaxillary protrusive patients.
Yong-jian XIE ; Da-wei WANG ; Jie-wei LIN ; Xin-hua LU ; Xu-shun HE
West China Journal of Stomatology 2004;22(5):408-410
OBJECTIVEThe aim of this study is to investigate the changes of hard tissue profile in anterior-posterior and vertical direction in bimaxillary protrusion patients after orthodontic treatment.
METHODSA total of 24 bimaxillary protrusion patients (male 8, female 16), aged from 11.2 to 29.0 (average 16.9 years old), were selected to be treated with standard edgewise technique consisted of 4 first premolars extraction. Cephalometrics were taken before and after treatment. The changes of hard tissue profile were studied using the computer-aid X-ray cephalometric analysis.
RESULTS1. The length of the maxillary and the mandible increased significantly, but the anterior-posterior relationship of the maxillary and the mandible did not change significantly. 2. The anterior and posterior facial height increased significantly, but the ratio of anterior and posterior facial height and the angle of MP-FH which reflected the inclination of the mandible plane did not change significantly. 3. The height of the upper and lower first molar increased significantly along with the increase of the anterior and posterior facial height. 4. The height of the upper incisors increased significantly, but the height of the lower incisors decreased significantly.
CONCLUSIONThe anchorage in anterior-posterior and vertical direction were controlled preferably, the patients did not manifest disadvantageous vertical growth trend.
Adolescent ; Adult ; Cephalometry ; Child ; Facial Bones ; pathology ; Female ; Humans ; Male ; Orthodontic Wires ; Orthodontics, Corrective ; Prognathism ; therapy ; Skull ; pathology
6.The application of narrow band imaging endoscopy in the early diagnosis of hypopharyngeal carcinoma
Xiaoguang NI ; Shun HE ; Li GAO ; Zhengang XU ; Ning LU ; Zheng YUAN ; Yueming ZHANG ; Shaoqing LAI ; Junlin YI ; Xiaolei WANG ; Lei ZHANG ; Xiaoyan LI ; Guiqi WANG
Chinese Archives of Otolaryngology-Head and Neck Surgery 2006;0(10):-
OBJECTIVE To investigate the characteristics of hypopharyngeal carcinoma detected by narrow band imaging(NBI)endoscopy and evaluate the value of NBI in the early diagnosis of hypopharyngeal carcinoma. METHODS Between December 2008 and July 2009,a total of 46 consecutive patients with hypopharyngeal squamous cell carcinoma were enrolled in this study. High performance endoscopic system equipped with the white light mode and NBI mode was introduced in the examination of pharynx and larynx. The quality of visualization of morphologies of epithelial capillary and demarcation line of each lesion under NBI view was evaluated in comparison with conventional white light endoscopy. RESULTS Among the 46 patients,a total of 86 lesions were detected. The notable characteristic of hypopharyngeal squamous cell carcinoma is the well demarcated brownish area and scattered brown dots. The NBI laryngoscope could provide better visualization of morphologies of epithelial capillary and demarcation line in superficial carcinoma of hypopharynx than the white light mode(P
7.Epidermal growth factor up-regulates the mRNA expression of endothelin-1 and its receptors in prostate cancer PC-3 cell lines.
Rui-Peng JIA ; Yan-Fei JIANG ; Lu-Wei XU ; Shu-Kui WANG ; Zi-Zheng WANG ; Wen-Cheng LI ; Bang-Shun HE
National Journal of Andrology 2008;14(1):15-19
OBJECTIVETo investigate the effects of the epidermal growth factor on the mRNA expression of endothelin-1 and its receptors (ET(A)R, ET(B)R) in hormone refractory prostate cancer (HRPC) PC-3 cell lines.
METHODSPC-3 cells were cultured in vitro. After the treatment with EGF, the mRNA expressions of endothelin-1, ET(A)R and ET(B)R were detected by RT-PCR in PC-3 cell lines. The levels of the mRNA expression of endothelin-1 and its receptors were examined at different time points by RT-PCR.
RESULTSThe expressions of endothelin-1 and ET(A)R mRNA but not the mRNA expression of ET(B)R was observed in PC-3 cell lines. After 24 hours of treatment with EGF, the expressions of endothelin-1 and ET(A)R in PC-3 cell lines were both up-regulated and there was significant difference (P < 0.05) between the experimental and control groups. Different expression levels of endothelin-1 and ET(A)R mRNA were noted at different time points of EGF intervention, up-regulated with the increase of treatment time, and with significant difference (P < 0.05).
CONCLUSIONEGF can up-regulate the mRNA expressions of endothelin-1 and ET(A)R in PC-3 cell lines and play a great role in prostate cancer progression, which may offer a substructure of molecular biology for the treatment of HRPC.
Cell Line, Tumor ; Endothelin-1 ; genetics ; Epidermal Growth Factor ; pharmacology ; Gene Expression Regulation, Neoplastic ; drug effects ; Humans ; Male ; Prostatic Neoplasms ; genetics ; pathology ; RNA, Messenger ; genetics ; metabolism ; Receptor, Endothelin A ; genetics ; Receptor, Endothelin B ; genetics ; Receptors, Endothelin ; genetics ; Reverse Transcriptase Polymerase Chain Reaction
9.Correlation between pressure-derived coronary collateral flow and Rentrop grade after primary percutaneous intervention of acute myocardial infarction.
Zhi-xiong CAI ; Xiao-qing WANG ; Bin LAN ; Lian-qing HU ; Ping CHEN ; Zhi-dan ZHU ; Shun-qi GUO ; Yan-hua LUO ; Rong-he XU
Journal of Southern Medical University 2006;26(6):799-801
OBJECTIVETo analyze the correlation between pressure-derived collateral coronary flow (PDCF) and Rentrop grade of patients with acute myocardial infarction (AMI).
METHODSPDCF, determined by the ratio of P(w)/P(a), was measured in 29 patients with AMI of the first onset who received primary percutaneous coronary intervention (PCI) within 12 h after the onset. Sufficient collateral flow (group A, n=19) was defined as PDCF>0.24 and insufficient collateral flow (group B, n=10) as PDCF< or =0.24. Rentrop grade of the collateral flow was evaluated by coronary angiography. Echocardiography was performed on the 3rd and 30th day after PCI. The left ventricular ejection fraction, end-systolic and end-diastolic volumes, and the related indexes were obtained.
RESULTRentrop grade was significantly related to PDCF (r=0.75, P<0.01), but a wide range of PDCF was observed in patients with Rentrop grade< or =1.
CONCLUSIONPDCF measurement allows quantitative evaluation of the collateral flow in patients with AMI.
Adult ; Aged ; Angioplasty, Balloon, Coronary ; Blood Pressure ; physiology ; Collateral Circulation ; physiology ; Coronary Angiography ; methods ; Coronary Circulation ; physiology ; Female ; Humans ; Male ; Middle Aged ; Myocardial Infarction ; diagnostic imaging ; physiopathology ; therapy ; Neovascularization, Physiologic ; Regional Blood Flow
10.Study on the risk factors of hypertension among rural residents in mid-west areas of Shandong province, using the classification tree analysis methodology.
Jia-ye LIU ; Ji-xiang MA ; Ai-qiang XU ; Zhen-tao FU ; Gui-shun HE ; Chong-qi JIA ; Yang YU
Chinese Journal of Epidemiology 2008;29(8):749-751
OBJECTIVETo explore the risk factors of hypertension and risk population for adults aged > or = 25 in the mid-western rural areas of Shandong province and to provide evidence for development of intervention measure.
METHODSSubjects aged > or = 25 were selected by multi-stage stratified random sampling method. All participants were interviewed with a standard questionnaire and physically examined on height, weight, waist circumference, blood pressure and fasting plasma glucose (FPG). Classification tree analysis was employed to determine the risk factors of hypertension and high risk populations related to it.
RESULTSThe major risk factors of hypertension would include age, abdominal obesity, overweight or obesity, family history and high blood sugar. The major populations at high risk would include populations as: a) being elderly, b) at middle-age but with: high blood sugar or with abdominal obesity/overweight, or with family history, c) people at middle-age but with family history and abdominal obesity. Through classification tree analysis, sensitivity, specificity and overall correct rates were 71.87%, 66.38% and 68.79%, respectively on 'learning sample' while 70.70%, 65.84% and 67.97% respectively on 'testing sample'.
CONCLUSIONEfforts on both weight and blood sugar reduction were common prevention measures for general population. Different kinds of prevention and control measures should be taken according to different risk factors existed in the targeted high-risk population of hypertension. Community-based prevention and control for hypertension measures should be integrated when targeting the population at high risk.
Aged ; Aged, 80 and over ; Blood Glucose ; China ; epidemiology ; Female ; Humans ; Hypertension ; complications ; epidemiology ; Male ; Middle Aged ; Obesity, Abdominal ; Overweight ; Risk Factors ; Rural Population ; Sampling Studies ; Surveys and Questionnaires