1.Clinical and molecular-biological study of a May-Hegglin anomaly family.
Xiu-ru SHAO ; Jia-zeng LI ; Jun MA ; Zhao-min ZHAN ; Hong LIANG ; Xi-nan SHE ; Hai-ling LU ; Lai-ci WANG ; Chui-ming JIA ; Li-jie WU ; Ming-hua JIN ; Li-jun CHEN
Chinese Journal of Hematology 2004;25(9):548-551
OBJECTIVETo study the changes of platelet in May-Hegglin anomaly (MHA) and the molecular pathogenesis mechanism.
METHODSPeripheral blood was drawn from the MHA proband, her father and her uncle. Platelet count and morphology were examined by automatic blood cell counter and microscopy, respectively. The platelet membrane protein was examined by flow cytometry. Membrane antibodies were determined by ELISA. PCR was used to amplify the exons 25, 31 approximately 32, 38 and 40 of the MYH 9 gene in the MHA patient and her diseased father. Furthermore, PCR products were sequenced, a specific point mutation was identified and inclusions (Dohle's body) in the neutrophil was detected by indirect immunofluorescence technique.
RESULTSIt was proved that in MHA patients, platelet count was higher by cell counter than by microscope (P < 0.01). Giant platelet was 94% but platelet membrane proteins (CD41, CD61, CD42A, CD42b) were in normal range. Membrane antibodies was undetectable. An A5521G mutation (GAG-->AAG) in the exon 38 was found in the proband and her diseased father, resulting in a characteristic change of NMMHC-A1841 (Glutamic acid-->Arginine), which was not found in other members of the family and in normal controls. Spindle-like inclusions with fluorescence were clearly displayed in neutrophil cytoplasm.
CONCLUSIONThe molecular pathogenesis mechanism of May-Hegglin anomaly is the mutation in MYH 9 gene.
Adult ; Base Sequence ; Blood Platelets ; metabolism ; pathology ; DNA Mutational Analysis ; Enzyme-Linked Immunosorbent Assay ; Female ; Flow Cytometry ; Granulocytes ; metabolism ; pathology ; Humans ; Inclusion Bodies ; metabolism ; pathology ; Male ; Molecular Motor Proteins ; genetics ; Mutation ; Myosin Heavy Chains ; genetics ; Pedigree ; Platelet Count ; Platelet Membrane Glycoproteins ; metabolism ; Thrombocytopenia ; blood ; genetics ; pathology
2.Expressions of VEGF-C and VEGF-D and their correlation with lymphangiogenesis and angiogenesis in gallbladder carcinoma.
Lei JIANG ; Yan-ling CHEN ; Fei-fei SHE ; Nan-hong TANG ; Xiu-jin LI ; Xiao-xi WANG
Chinese Journal of Oncology 2010;32(3):190-195
OBJECTIVETo investigate the expression of VEGF-C and VEGF-D and their correlations with lymphangiogenesis and angiogenesis in gallbladder carcinoma.
METHODSFifty cases of gallbladder carcinoma with complete clinical and pathological data were analyzed. The expression of VEGF-C and -D, D2-40, CD31 was assayed by immunohistochemical staining, with 10 samples of normal gallbladder tissues away from cancer and 19 samples of chronic cholecystitis as controls, and their correlation with clinicopathological findings were analyzed retrospectively.
RESULTSThirty-two (64.0%) of the 50 gallbladder cancers were positive for VEGF-C protein expression by immunohistochemistry and the positive rate of VEGF-D protein expression was 62.0% (31/50). The protein expression of VEGF-C and VEGF-D in tumor tissues was significantly higher than that in normal gallbladder tissues away from the tumor (P < 0.05), but no correlation with that in chronic cholecystitis (P < 0.05). The VEGF-C expression correlated with the patient age and lymph node metastasis (both P < 0.05). The VEGF-D expression only correlated with lymph node metastasis (P < 0.05). In the 50 gallbladder cancers, the MLVD was 6.9 + or - 3.6 and the MVD was 36.1 + or - 12.8. The MLVD in both VEGF-C and -D positive groups was significantly higher than that in the negative groups (P = 0.000), and the lymph node metastasis also increased. MVD in both VEGF-C and -D positive groups was higher than that in the negative groups (P < 0.05), and it was also correlated with tumor differentiation (P < 0.05). A significant positive correlation was also found between VEGF-C and VEGF-D expression (r = 0.498, P < 0.01).
CONCLUSIONVEGF-C and VEGF-D are involved in the lymphangiogenesis and angiogenesis in gallbladder carcinoma, promote lymph node metastasis of the tumor, and both are important in the regulation of lymphangiogenesis and angiogenesis in this cancer. VEGF-C and VEGF-D are of clinical significance in evaluating lymph node metastatic potency and estimation of prognosis in gallbladder carcinoma.
Adenocarcinoma ; blood supply ; metabolism ; pathology ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Carcinoma, Papillary ; blood supply ; metabolism ; pathology ; Cholecystitis ; metabolism ; pathology ; Female ; Gallbladder Neoplasms ; blood supply ; metabolism ; pathology ; Humans ; Lymphangiogenesis ; Lymphatic Metastasis ; Male ; Middle Aged ; Neovascularization, Pathologic ; metabolism ; Retrospective Studies ; Vascular Endothelial Growth Factor C ; metabolism ; Vascular Endothelial Growth Factor D ; metabolism
3.Split hand/foot malformation: report of a family with 20 cases.
Anli SHU ; Chua-nan YI ; Miao-miao LIU ; Cui-qin HUANG ; She CHEN ; Shu-mei YANG ; Qiang HE ; Xi-dan LI
Chinese Journal of Medical Genetics 2013;30(4):498-499
Adult
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Female
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Foot Deformities, Congenital
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diagnosis
;
genetics
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Hand Deformities, Congenital
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diagnosis
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genetics
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Humans
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Male
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Pedigree
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Young Adult
4.Treatment of acne vulgaris with auricular acupoint pricking-bloodletting plus auricular point sticking therapy: a randomized controlled study
Ya-Jing SONG ; Xi-Sheng FAN ; Meng-Yun LI ; Jie ZHANG ; Jing-Ran GENG ; Xiao LIANG ; Jun-Cha ZHANG ; Xiao-Qi ZHANG ; Shu-Bo ZHOU ; Nan WANG ; Jia-Xu ZHANG ; Xiao-Dan SONG ; Yan-Fen SHE ; Fu-Qing ZHANG
Journal of Acupuncture and Tuina Science 2019;17(3):196-202
Objective: To observe the clinical efficacy of auricular point pricking-bloodletting plus auricular point sticking therapy for acne vulgaris. Methods: A total of 66 patients with acne vulgaris were randomized into an observation group and a control group by the random number table, with 33 cases in each group. The observation group was treated with auricular point pricking-bloodletting plus auricular point sticking therapy, and the control group was treated only with auricular point sticking therapy. The treatments of both groups were performed twice a week, 4 weeks as a course of treatment, for 3 courses in total. The scores of skin lesions and dermatology life quality index (DLQI) scores were recorded before and after treatment to assess the clinical efficacy. Results: During the trial, there were 3 cases of drop-out both in the observation group and the control group. After 3 courses of treatment, the total effective rate of the observation group was 96.7%, while that of the control group was 76.7%. The difference between the two groups was statistically significant (P<0.05). The intra-group comparison showed that the scores of skin lesion and DLQI were both decreased with the increase of treatment times, that was, the scores were lower than those at the previous time point (allP<0.05). After 1, 2, and 3 courses of treatment, the scores of skin lesion and DLQI of both groups were statistically different from those of the same group before treatment (allP<0.05). At every time point during the treatment, the scores of skin lesion and DLQI of the observation group were lower than those of the control group, and the differences between the two groups were statistically significant (all P<0.05). Conclusion: Auricular point pricking-bloodletting plus auricular point sticking has a better curative effect than auricular point sticking therapy alone in the treatment of acne vulgaris, and has a time-effect correlation.
5.Prevalence, awareness, treatment, and control of hypertension in the non-dialysis chronic kidney disease patients.
Ying ZHENG ; Guang-Yan CAI ; Xiang-Mei CHEN ; Ping FU ; Jiang-Hua CHEN ; Xiao-Qiang DING ; Xue-Qing YU ; Hong-Li LIN ; Jian LIU ; Ru-Juan XIE ; Li-Ning WANG ; Zhao-Hui NI ; Fu-You LIU ; Ai-Ping YIN ; Chang-Ying XING ; Li WANG ; Wei SHI ; Jian-She LIU ; Ya-Ni HE ; Guo-Hua DING ; Wen-Ge LI ; Guang-Li WU ; Li-Ning MIAO ; Nan CHEN ; Zhen SU ; Chang-Lin MEI ; Jiu-Yang ZHAO ; Yong GU ; Yun-Kai BAI ; Hui-Min LUO ; Shan LIN ; Meng-Hua CHEN ; Li GONG ; Yi-Bin YANG ; Xiao-Ping YANG ; Ying LI ; Jian-Xin WAN ; Nian-Song WANG ; Hai-Ying LI ; Chun-Sheng XI ; Li HAO ; Yan XU ; Jing-Ai FANG ; Bi-Cheng LIU ; Rong-Shan LI ; Rong WANG ; Jing-Hong ZHANG ; Jian-Qin WANG ; Tan-Qi LOU ; Feng-Min SHAO ; Feng MEI ; Zhi-Hong LIU ; Wei-Jie YUAN ; Shi-Ren SUN ; Ling ZHANG ; Chun-Hua ZHOU ; Qin-Kai CHEN ; Shun-Lian JIA ; Zhi-Feng GONG ; Guang-Ju GUAN ; Tian XIA ; Liang-Bao ZHONG ; null
Chinese Medical Journal 2013;126(12):2276-2280
BACKGROUNDData on the epidemiology of hypertension in Chinese non-dialysis chronic kidney disease (CKD) patients are limited. The aim of the present study was to investigate the prevalence, awareness, treatment, and control of hypertension in the non-dialysis CKD patients through a nationwide, multicenter study in China.
METHODSThe survey was performed in 61 tertiary hospitals in 31 provinces, municipalities, and autonomous regions in China (except Hong Kong, Macao, and Taiwan). Trained physicians collected demographic and clinical data and measured blood pressure (BP) using a standardized protocol. Hypertension was defined as systolic BP ≥ 140 mmHg and/or diastolic BP ≥ 90 mmHg, and/or use of antihypertensive medications. BP < 140/90 mmHg and < 130/80 mmHg were used as the 2 thresholds of hypertension control. In multivariate logistic regression with adjustment for sex and age, we analyzed the association between CKD stages and uncontrolled hypertension in non-dialysis CKD patients.
RESULTSThe analysis included 8927 non-dialysis CKD patients. The prevalence, awareness, and treatment of hypertension in non-dialysis CKD patients were 67.3%, 85.8%, and 81.0%, respectively. Of hypertensive CKD patients, 33.1% and 14.1% had controlled BP to < 140/90 mmHg and < 130/80 mmHg, respectively. With successive CKD stages, the prevalence of hypertension in non-dialysis CKD patients increased, but the control of hypertension decreased (P < 0.001). When the threshold of BP < 130/80 mmHg was considered, the risk of uncontrolled hypertension in CKD 2, 3a, 3b, 4, and 5 stages increased 1.3, 1.4, 1.4, 2.5, and 4.0 times compared with CKD 1 stage, respectively (P < 0.05). Using the threshold of < 140/90 mmHg, the risk of uncontrolled hypertension increased in advanced stages (P < 0.05).
CONCLUSIONSThe prevalence of hypertension Chinese non-dialysis CKD patients was high, and the hypertension control was suboptimal. With successive CKD stages, the risk of uncontrolled hypertension increased.
Adult ; Aged ; Awareness ; Female ; Humans ; Hypertension ; complications ; epidemiology ; therapy ; Male ; Middle Aged ; Prevalence ; Renal Insufficiency, Chronic ; complications