1.Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province
Yuqiu ZHOU ; Xuan SHANG ; Baomin YIN ; Fu XIONG ; Qizhi XIAO ; Wanjun ZHOU ; Yongliang ZHANG ; Xiangmin XU
Chinese Journal of Obstetrics and Gynecology 2012;47(2):90-95
ObjectiveTo report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010.MethodsAs the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province,Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.ResultsFrom January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237%,7 393/141 166) and 3333 for β-thalassemia (2.361%,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7%,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9% (49/149).ConclusionsThis study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary comes out of technical proposals for prenatal screening and diagnosis,which could be take example by preventative control of thalassemia in other regions of China where are prevalent.
2.Antimicrobial susceptibility of 487 Mycoplasma strains
Xiao-Yan QIU ; Wen-Zhong WANG ; Qian-Jun FU ; Shi-E CHEN ; Zhi-Xiong WANG ;
Chinese Journal of Infection and Chemotherapy 2006;0(04):-
Objective To analyze the antimicrobial susceptibility of Mycoplasma isolates for rational antimicrobial therapy. Methods BioM?rieux IST kit was used for identification and susceptibility testing of Mycoplasma strains.Results Mycoplasma was positive in 49.5% of the specimens tested.Of the Mycoplasma detected,Ureaplasma urealyticum(Uu)alone accounted for 74.7%,Mycoplasma huminis(Mh)alone accounted for 18.1%,and Uu+Mh was identified in 7.2% of the patients.The results of antimicrobial susceptibility testing showed that the Mycoplasma isolates were most susceptible to doxycycline (98.1%).Ciprofloxacin was the least active (17.3%).Conclusions Doxyeycline,josamycin,and clarithromycin can be used in the treatment of urinary tract infections caused by Mycoplasma.
3.Development of three dimensional facial measurement system based on structured light projection
Yao-yang, XIONG ; Xiao-bo, CHEN ; Jian, SUN ; Fu-qiang, ZHANG ; Jun-tong, XI
Journal of Shanghai Jiaotong University(Medical Science) 2009;29(7):837-841
Objective To construct a system for three dimensional face scanning and measurement. Methods The measurement system was based on the principle of triangulation and the combination of gray-code and phase-shift structured light projection. The system software was developed for Windows XP with the aid of tools such as Visual C++ and Hoops. Results A three dimensional measurement system based on structured light projection was developed. The system hardware was composed of fringe projection unit, image gathering unit, system control unit and mechanical appearance, and the system software was composed of point cloud display and editing module. The lamp house of the system was 12V, the working distance was 900 mm, the scanning time was 5.5 s and the scanning field was 500 mm×400 mm. Conclusion The three dimensional measurement system based on structured light projection is a refined machine with safe light to eyes, and the accuracy and scanning speed are suitable to face scanning.
4.Genetic and Clinical Advances of Congenital Muscular Dystrophy
Chinese Medical Journal 2017;(21):2624-2631
Objective: The aim was to update the genetic and clinical advances of congenital muscular dystrophy (CMD), based on a systematic review of the literature from 1991 to 2017. Data Sources: Articles in English published in PubMed from 1991 to 2017 English were searched. The terms used in the literature searches were CMD. Study Selection: The task force initially identified citations for 98 published articles. Of the 98 articles, 52 studies were selected after further detailed review. Three articles, which were not written in English, were excluded from the study. This study referred to all the important and English literature in full. Results: CMD is a group of early?onset disorders encompassing great clinical and genetic heterogeneity. Patients present with muscle weakness typically from birth to early infancy, delay or arrest of gross motor development, and joint and/or spinal rigidity. The diagnosis of CMD relies on clinical findings, brain and muscle imaging, muscle biopsy histology, muscle and/or skin immunohistochemical staining, and molecular genetic testing. Conclusions: Advances in next?generation sequencing and histopathological techniques have enabled the recognition of distinct CMD subtypes supported by specific gene identification. Genetic counseling and multidisciplinary management of CMD play an important role in help patients and their family. Further elucidation of the significant clinical and genetic heterogeneity, therapeutic targets, and the clinical care for patients remains our challenge for the future.
5.Anatomical and clinical study on partial pectoralis minor transplantation for reconstruction of the opposition of the thumb
Yong-Qing ZHUANG ; Hong-Tao XIONG ; Qiang FU ; Hao-Li JIANG ; Xiao-Kuan FU ; Dong DU ; Jing TONG ;
Chinese Journal of Microsurgery 2006;0(05):-
Objective To investigate a new surgical method by using pectoralis minor muscle for its partial transplantation to reconstruct the function of the opposite thumb anastomosed vessels and nerves. Methods The proposed method was evaluated by taking 20 cases of adult cadaveric thoraxes and hands,then compared with the morphology and dimension of both pectoralis minor muscle and palmer muscle to study the feasibility of the new method.Based on the observed data.We selected five suitable cases,in which the opposi- tion function was lost,and then applied the new operation on them with partial transplantation of pectoralis mi- nor muscle anastomosed vessels and nerves according to the results of anatomic study.The follow-up study was conducted to observe the functional recovery of opposition of the thumb.Results The main results can be summarized as follows.First,the anatomical position of pectoralis minor muscle was stable,and every peetoralis minor muscle was provided with self-sustaining artery,vein and nerve.The oppostition process of cadaveric hand succeeded after similar transplantation to clinic operation.Second,follow-up studies conducted 6 - 12 months after the operation showed that all five patients recovered fully.The muscle strength in all five cases re- covered to level four or higher.The shape of palm eminence was satisfactory.Conclusion The surgical method of pectoralis minor muscle transplantation for reconstructing the opposition function of the thumb was based on the clinical and anatomical application.The function of opposition of the thumb reached the satisfacto- ry requirement after the operation.So,the new surgical method can achieve better results than other existing operation methods.
6.Study of Rhubarb anti-Yersina pestis based on DNA microarray
Qun-hua, BAI ; Yan, JIA ; Xing-bi, DA ; Hong, XIAO ; Ying-xiong, WANG ; Rui-fu, YANG ; Jing-fu, QIU
Chinese Journal of Endemiology 2008;27(6):602-605
Objective To establish a method for studying molecular mechanism of Rhubarb inhibiting anti-Yersinia pesti based on DNA microarray.Methods A whole genome DN A microarray containing 4005 annotated genes of Yersiniapesti Was used.The minimal inhibitory concentration(MIC)of Rhubarb to Yersiniapestiwas determined by liquid dilution method.The gene expression profile of Yersinia pesti was performed after the exposure to Rhubarb at a concentration of 10×MIC for 30 minutes.The total RNA extracted and purified from Yersinia pesti Was reversely transfected to cDNA and labeled by Cy3-Cy5 dye.The labeled probes were hybridized to the microarray anti the results were obtained by a laser scanner and the microarray data was confirmed by real-time quantitative RT-PCR.Results The platform of the DNA microarray-based bacteria transcriptional profile was established.A total of 498 genes of Yersinia pesti changed significantly in response to Rhubarb.Among them.358 genes were up-regulated,140 down-reguated.Conclusions The whole genome DNA microarray can be used in the studying of molecular anti-Yersinia pesti mechanism of Rhubarb.
7.Lyman NTCP model analysis of radiaton-induced liver disease in hypofractionated conformal radiotherapy for primary liver carcinoma
Zhi-Yong XU ; Shi-Xiong LIANG ; Ji ZHU ; Jian-Dong ZHAO ; Xiao-Dong ZHU ; Xiao-Long FU ; Guo-Liang JIANG ;
Chinese Journal of Radiation Oncology 2005;0(06):-
Objective To-identify the factors associated with radiation-induced liver disease (RILD) and to describe the probability of RILD using the Lyman normal tissue complication(NTCP) model for primary liver carcinoma(PLC) treated with hypofractionated conformal therapy (CRT).Methods A total of 109 PLC patients treated with hypofractionated CRT were prospectively followed according to the Child-Pugh classification for liver cirrhosis,93 patients in class A and 16 in class B.The mean dose of radi- ation to the isocenter was (53.5?5.5) Gy,fractions of (4.8?0.5) Gy,with interfraction interval of 48 hours and irradiation 3 times per week.Maximal likelihood analysis yielded the best estimates of parameters of the Lyman NTCP model for all patients;Child-Pugh A and Child-Pugh B patients,respectively.Results Of all the patients,17 developed RILD (17/109),8 in Child-Pugh A(8/93 ) and 9 in Child-Pugh B(9/ 16).By multivariate analysis,only the Child-Pugh Grade of liver cirrhosis was the independent factor (P= 0.000) associated with the developing of RILD.The best estimates of the NTCP parameters for all 109 pa- tients were n=1.1,m=0.35 and TD_(50) (1)=38.5 Gy.The n,m,TD_(50) (1) estimated from patients with Child-Pugh A was 1.1,0.28,40.5 Gy,respectively,compared with 0.7,0.43,23 Gy respectively,for patients with Child-Pugh B.Conclusions Primary liver cancer patients who possess Child-Pugh B cirrho- sis would present a significantly greater susceptibility to RILD after hypofractionated CRT than patients with Child-Pugh A cirrhosis.The predominant risk factor for developing RILD is the severity of hepatic cirrhosis in the liver of PLC patients.
9.Global gene expression of berberine against Yersiniapestis in vitro
Jing-ling, ZHANG ; Qun-hua, BAI ; Yan, JIA ; Xing-bi, DAI ; Hong, XIAO ; Ying-xiong, WANG ; Rui-fu, YANG ; Jing-fu, QIU
Chinese Journal of Endemiology 2008;27(6):606-608
Objective To investigate the antibacterial molecular mechanism of Traditional Chinese Medicine Coptis rhizome against Yersinia pestis(Y.pestis).Methods The method based on whole genome DNA micrnarray of Y.pestis was used.The minimal inhibition concentration(MIC)of berberine to Y.pestis was determined with liquid dilution method.Then gene expression profile of Y.pestis was performed after exposed to berberine at the concentration of 10×MIC for 30 minutes.Total RNA extracted and purified from Y.pestis and reverse-transcribed to cDNA,then labeled by Cy-dye.Finally,the labeled probes were hybridized to the microarray and the results were obtained by a laser scanner and analyzed by the SAM software.Results The gene expression profile data revealed that the response of Y.pestis to berberine was a global phenomenon.A total of 360 genes changed significantly.Among them,333 genes were up-regulated,27 down-regulated.These differentially expressed genes were further classified into 24 different functional categories based on the genomie annotation of Y.pestis CO92,in which the number of mainly related genes were 83,75 and 48,including cell envelop,unkown,transport/binding proteins functions.The 40 genes related to the metabolism were upregulated,which was a remarkable change.Conclusion Our results have revealed the general gene expression changes of Y.pestis in response to berberine and demonstrated the antibacterial molecular mechanism of the Coptis rhizome.The major mechanism of Y.pestis in response to berberine is the upregulation of genes related to the metabolism.
10.Efficacy comparison between transplanting microenvironmental induced and non-induced bone marrow mesenchymal stem cells in ischemic rat hearts
Xiao-Hong LI ; Yong-Heng FU ; Zai-Yi LIU ; Guang-Feng ZHANG ; Guang-Fu DONG ; Qiu-Xiong LIN ; Xi-Yong YU
Chinese Journal of Cardiology 2009;37(8):680-684
Objective To compare the efficacy of transplanting bone marrow mesenchymal stem cell (BMSC) or microenvironmental induced BMSC ( iBMSC) into the ischemic myocardium of rats with myocardial infarction. Methods iBMSC was defined as BMSC co-cultured with myocardial cells for 2 weeks. The stem cells or equal volume PBS were injected into ischemic border zone 1 wk after experimental infarction. Cardiac performance was evaluated at 1, 2, and 4 wk after cell transplantation by echocardiography and analyzed histologically at 4 wk after cell transplantations. Results Compared with PBS group, both BMSC and iBMSC transplantations reduced infarct size. iBMSC enhanced the beneficial effects of BMSC on improving cardiac function (FS: 28.5% ±4.3% in PBS, 29.0% ±2.0% in BMSC and 45. 1% ±3. 1% in iBMSC group at 4 weeks post transplantation, iBMSC group vs. PBS group P <0. 05, iBMSC group vs. BMSC group P <0. 05). Immunofluorescence microscopy results revealed co-localization of SPIO-labeled transplanted cells with cardiac markers for cardiomyocytes, indicating regeneration of damaged myocardium. Conclusion Our data suggest that iBMSC implantation is more effective on improving cardiac function than BMSC implantation in this model. iBMSC might serve as a new promising therapeutic cell source for regenerating ischemic myocardium in patients with post-infarction heart failure.