1.A novel mutation of c.2472+1G>A in kit gene causes piebaldism in a Chinese family
Yi QUAN ; Xi LIAO ; Desheng LIANG ; Lingqian WU
Chinese Journal of Dermatology 2010;43(6):399-401
Objective To make a molecular genetic analysis in a Chinese family with piebaldism,in order to find the causative mutation of this disease.Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family.Ploymerase chain reaction (PCR),reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene.Results A novel heterozygous mutation c.2472+1G>A in kit gene.which leads to the loss of 3' splicing site in exon 17 followed by the absence of exon 17,was found in all affected members,but not in an unaffected member in the family.Conclusion The novel mutation c.2472+1G>A may be associated with piebaldism initiation in this family.
2.Application of Fluctuation Complexity Measure to Speech Endpoint Detection
Yingle FAN ; Chuanyan WU ; Yi LI ; Quan PANG
Space Medicine & Medical Engineering 2006;0(06):-
Objective To find a useful index for real-time detecting of speech endpoint and improving the performance of speech processing under low SNR by analyzing fluctuation complexity of speech signals. Method The influence of state space partition method, window size and partition numbers on detecting performance was analyzed. The comparison experiments of speech signals corresponding to different SNR and noise type was designed using the measure of complexity behaviors based on the information gain.Result It was found that fluctuation complexity was more effective in detecting low-SNR speech than spectral entropy. Conclusion Fluctuation complexity is a valid feature to make speech/non-speech decision for the low SNR cases. The presented method can achieve robust performance and has a good real-time behavior.
4.Clinical analysis of 126 children with hemorrhagic fever with renal syndrome.
Cui-ping WU ; Ru-yong LI ; Liang-yi QI ; De-quan XIA
Chinese Journal of Pediatrics 2003;41(9):703-704
Adolescent
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Child
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Child, Preschool
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Electrocardiography
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Female
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Fever
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complications
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Hemorrhagic Fever with Renal Syndrome
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blood
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complications
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pathology
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Humans
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Hypergammaglobulinemia
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blood
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Immunoglobulin M
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blood
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Male
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Pain
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complications
5.Exploration and practice of web-based PBL teaching mode in pharmacology
Quan YI ; Wenliang CHEN ; Yinghua LIU ; Xiaoqian WU ; Mei ZHANG ; Ning HOU
Chinese Journal of Medical Education Research 2013;(4):423-425
Problem based learning(PBL) is a teaching mode which is based on the autonomous learning of students in small groups.Due to the limited conditions,PBL method can not be widely applied in Guangzhou Medical University.Teaching and research section of pharmacology established a web based PBL teaching mode (W-PBL) in the school through Blackboard net platform,which enlarged the teaching scope and provided students and teachers with a teaching mode having updated learning patterns and high efficiency.Results of this practice were satisfactory and teaching effect was improved significantly.
6.Inhibitory Effect Analysis of Pioglitazone on Inflammation Factors in Patients with Bladder Cancer
Yi LIU ; Xuan ZHANG ; Huyi LI ; Xuliang ZHANG ; Weihe QUAN ; Zhenqi WU
Journal of Modern Laboratory Medicine 2015;(2):46-48
Objecitve To study the inhibitory effect of pioglitazone on inflammation factors in patients with bladder cancer. Methods A total of 100 consecutives diagnosed as bladder cancer from Februray 2013 to Februray 2014 were individed ran-domly into experiment and control groups and each of 50 cases.All patients received the appropriate operation or chemother-apeutic regimens,and the patients in experiment group received pioglitazone (15 mg/d×12 weeks)at the same time.Then to compare expression differences of high-sensitive C reactive protein (hs-CRP),tumor necrosis factor alpha (TNF-alpha),in-terleukin (IL-6)and HOMA-IR,MCP-1,MIP-1 levels.Results The levels of hs-CRP,TNF-αand IL-6 in the two groups af-ter treatment were all lower (P <0.05),and in experiment groups they were significantly lower than control group (P <0.05).The levels of HOMA-IR,MCP-1 and MIP-1 in the two groups after treatment were all lower (P <0.05),and in ex-periment groups they were significantly lower than control group(P <0.05).The complication rate in the two groups were no statistical difference (P >0.05).Conclusion Pioglitazone could improve clinical effect and prognosis by lowing inflam-mation factors including hs-CRP,TNF-α,IL-6,HOMA-IR,MCP-1 and MIP-1 in patients with bladder cancer.
7.Utility of optomap panoramic 200Tx in postoperative fundus examination among cataract patients
Jie, PENG ; Qi, ZHANG ; Xuan, CAI ; Wu-Yi, LU ; Pei-Quan, ZHAO
International Eye Science 2014;(9):1686-1688
To investigate the utility of optomap panoramic 200Tx in screening fundus disease among the patients after cataract surgery.
●METHODS: From November 18 th to December 31st , 2013 all 146 post- cataract surgery patients were recruited. All non - mydriatic fundus images were taken with the optomap panoramic 200Tx and were diagnosed by one masked retinal specialist. Non - mydriatic direct ophthalmoscope exam and mydriatic slit-lamp lens exam were also done by other two masked specialists. Comparisons of the three methods were made.
●RESULTS: Among 146 patients ( 161 eyes), 40 eyes (24. 8%) of retinal lesions was detected by non-mydriatic direct ophthalmoscope exam, 59 ( 36. 7%) by non -mydriatic optomap 200Tx exam, and 61 (37. 9%) by slit-lamp lens exam. Nine eyes ( 5. 6%) needed medical intervention immediately. Results of optomap 200Tx exams and slit - lamp lens exams were similar without statistically significant difference ( P > 0. 05), better than direct ophthalmoscope exam ( P < 0. 05) with statistically significant difference.
● CONCLUSlON: Opacification of the refractive medium makes thorough fundus examination impossible. So post-operative fundus examination is highly necessary and should be a routine. Optomap panoramic 200Tx, which shows no statistically difference from mydriatc slit- lamp lens exam, is a convenient and feasible method in discovering fundus pathological changes.
8.Expression of MMR in endometrial adenocarcinoma in women under 50 years old.
Hai-xia WU ; Jian-chan SONG ; Yi-quan SHI ; Yi-xin LIU
Chinese Journal of Pathology 2012;41(11):733-736
OBJECTIVETo investigate the expression of DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) in endometrial adenocarcinoma (EC) of patients under 50 years and to explore the relationship between MMR expression and clinicopathological features including body mass index (BMI), histological grade and pathological stage of EC.
METHODSMMR gene expression was investigated by immunohistochemical S-P method in endometrial adenocarcinomas of patients under age of 50. The control groups included complexity atypical hyperplasia endometrium (CAHE), simple hyperplasia endometrium (SHE), normal endometrium (NE) of patients under age of 50 and EC of patients older than 65 years.
RESULTSTwenty seven of 40 EC (67.5%) lost at least one MMR protein expression. Loss of at least one MMR protein expression was seen in 5/15 cases of CAHE, 1/13 SHE and 1/11 NE, respectively (P < 0.01). The rates of loss of expression of MLH1, MSH2, MSH and PMS2 proteins in EC were 52.5%, 12.5%, 35.0%, and 30.0%, respectively. The difference between MLH1 and MSH6 expression among the four groups were significant (P < 0.05), but the expression of MSH2 showed no significant difference among the groups (P = 0.295). The expression of MMR protein had no relationship with histological grade and pathological stage, although loss of MSH6 was more frequently seen in patients of higher BMI.
CONCLUSIONSAbnormal expression of MMR proteins is correlated with the development of EC from complex atypical hyperplasia. With the exception of the correlation of MSH6 expression with higher BMI, the expression of MMR proteins in EC has no significant relationship with histological grade and pathological stage.
Adaptor Proteins, Signal Transducing ; metabolism ; Adenocarcinoma ; genetics ; metabolism ; pathology ; Adenosine Triphosphatases ; metabolism ; Adult ; Body Mass Index ; DNA Mismatch Repair ; DNA Repair Enzymes ; metabolism ; DNA-Binding Proteins ; metabolism ; Endometrial Neoplasms ; genetics ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Middle Aged ; Mismatch Repair Endonuclease PMS2 ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein ; metabolism ; Neoplasm Grading ; Neoplasm Staging ; Nuclear Proteins ; metabolism
9.Preliminary clinical evaluation of nerve growth factor gel on neuroprotecion in patients with glaucoma
Ren-Yi, WU ; Chang-Quan, HUANG ; Jie-Xuan, LV ; Qian-Qian, HU ; Wei-Yi, HUANG ; Ya-Zhang, XU
International Eye Science 2015;(2):255-258
To evaluate the neuroprotective effect of nerve growth factor ( NGF ) on acute angle-closure glaucoma patients after trabeculetomy.METHODS: Patients with viral keratitis who underwent trabeculectomy in treatment of acute angle - closure glaucoma in Xiamen Eye Center of Xiamen University from December 2011 to October 2013 were selected and completed the treatment, 61 eyes of 45 cases were followed up. The treatment group of 23 cases (32 eyes) with acute angle-closure glaucoma patients were treated by NGF gel for 3mo after trabeculetomy, while in the control group 22 cases (29 eyes) were treated by normal saline replaced NGF. All patients were followed up for at least 12mo, visual acuity, perimetry, retinal nerve fiber layer ( RNFL) thickness and cup/disc ratio of the patients were followed up during the treatment. The safety of topical use of NGF gel was also evaluated.RESULTS:ln all patients, the intraocular pressure ( lOP) was successfully controlled under 21mmHg and the visual acuity was markedly increased in the affected eye after trabeculectomy. Compared with control group, the postoperative lOP and visual acuity had no significant differences in treatment group (P>0. 05). The average light sensitivity of perimetry and mean defect were better than that in control group postoperative 6 and 12mo; The results of optical coherent tomography ( OCT ) and Heiderburg Retina Tomography ( HRT )-Ⅲ showed that RNFL thickness was significantly greater than that in control group, while cup/disc ratio significantly less than that in control group postoperative 6 and 12mo. Ocular surface damage, corneal endothelium to reduce and other eye complication were no observed in treatment group.CONCLUSlON:Acute angle-closure glaucoma treated by NGF gel after operation is effective and safe.
10.Not Available.
Zi hao LIU ; Shu quan ZHAO ; Jian yi CHEN ; Wei nian DENG ; Qing SHI ; Yi wu ZHOU
Journal of Forensic Medicine 2021;37(5):718-720