1.Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism.
Yanliang ZHANG ; Qiuyue XU ; Xuemei CAI ; Yixun LI ; Guibo SONG ; Juan WANG ; Rongchen ZHANG ; Yong DAI ; Yong DUAN
Chinese Journal of Medical Genetics 2015;32(6):814-818
OBJECTIVETo analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism.
METHODSG-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR).
RESULTSNo abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH.
CONCLUSIONTwo CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.
Amenorrhea ; diagnosis ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Comparative Genomic Hybridization ; methods ; DNA Copy Number Variations ; genetics ; Female ; Humans ; Hyperandrogenism ; diagnosis ; genetics ; Karyotyping ; Reverse Transcriptase Polymerase Chain Reaction ; Siblings ; Young Adult
2.The value of the signal intensity ratio of the extraocular muscle and the ipsilateral white matter of the MRI in the evaluation of the activity of thyroid-associated ophthalmopathy
Qiuyue CAI ; Zhiyi CHEN ; Chenzhong LI ; Zhangfang LI ; Wei JIANG ; Yaosheng LUO ; Shidi HU ; Jie SHEN
Chinese Journal of Endocrinology and Metabolism 2018;34(2):106-111
Objective To investigate the quantitative value of the signal intensity ratio of extraocular muscle and ipsilateral white matter measured by MRI for the evaluation of activity in thyroid-associated ophthalmopathy. Methods A total of 129 patients and 245 eyeballs with thyroid-associated ophthalmopathy were enrolled in this study and this 245 eyeballs were set as thyroid-associated ophthalmopathy group(TAO group). There were 10 patients with newly diagnosed Graves'disease and in the same period and these 20 eyeballs were set as graves'disease group(GD group). 32 normal people from annual physical test excluded thyroid and eye diseases and their 64 eyes were selected randomly for the normal control group(NC group). The signal intensity of the extraocular muscle and the ipsilateral white matter on the MRI images were measured, while did exophthalmos and the width of the inner fat of eyeballs (FWs)measurements in the same time. Results SIR,FWs,and exophthalmos of TAO group were higher than those of the other 2 groups[SIRs:1.71(1.40,2.10)vs 1.26(1.22,1.34)and 1.23(1.14,1.32);FWs:8.04(6.70, 8.71)mm vs 6.16(4.86,7.08)mm and 6.93(6.41,7.65)mm,exophthalmos:20.10(18.56,22.15)mm vs 15.40(14.87,16.60)mm and 14.73(13.40,16.07)mm,all P<0.05]. The reference value of SIR establishing based on SIRs of NC group is less than 1.37. In total 129 TAO patients,55 patients(with 106 eyeballs)have a clinical activity score(CAS). Then,these eyeballs were grouped to activity and non-activity(grouped by CAS≥3),and the baseline group difference of these 2 groups was not statistically significant. The SIRs and exophthalmos of activity group were higher than the non-activity group[SIRs:1.70(1.45,2.33)vs 1.41(1.25,1.75); exophthalmos:(20.38 ± 2.40)mm vs(19.05 ± 3.70)mm,all P<0.05]. But the difference of FWs of these two groups was not statistically significant(P>0.05). The SIRs and CAS had a positive correlation(r=0.580,P=0.000),through the receiver operating characteristic curve(ROC)we get the best diagnostic performance of TAO activity when the SIR≥1.56(sensibility=65.6%,specificity=89.1%,AUC=0.815,P=0.000). Conclusion The signal intensity ratio of extraocular muscle and ipsilateral white matter may discriminate the activity of TAO early as a quantitative indicator, reflecting its efficacy,and is worth clinically generalizing.
3.Construction of an eukaryotic expression plasmid for AY358935 gene.
Rui CAI ; Li WAN ; Panpan LYU ; Lijuan WANG ; Qiuyue LUO ; Tingting SONG ; Qian DING ; Yaling LI ; Deyi YAO ; Shaoquan XIONG
Chinese Journal of Medical Genetics 2018;35(3):385-388
OBJECTIVETo construct an eukaryotic expression plasmid for AY358935 gene and explore its function.
METHODScDNA of the AY358935 gene was amplified by reverse transcription-PCR and cloned into pGEM-Teasy. The pGEM-T-AY was validated by sequencing and served as a template for the construction of eukaryotic expression plasmid. The pcDNA3.1-AY recombinant was validated by double enzyme digestion and used for transient transfection of M14 cells. Expression of the AY358935 protein and proliferation of the M14 cells were determined respectively by Western blotting and 3-(4,5)-dimethylthiahiazo(-z-y1)-3,5-di-phenytetrazoliumromide (MTT) colorimetry.
RESULTSThe amplicons of RT-PCR were confirmed to have similar size with the cDNA fragment of the AY358935 gene as well as cloned region of pcDNA3.1-AY. The cloned region of pGEM-T-AY was sequenced to be identical with cDNA sequence of the AY358935 gene. M14 cells were transfected by the AY358935 gene, pcDNA3.1 and liposomes, respectively. After 48 h, expression of the AY358935 protein in M14 cells transfected with the AY358935 gene was significantly higher than other two groups. They also had a significantly higher absorbance value (A=0.74) than other two groups (A=0.39 and 0.46, respectively; P<0.05).
CONCLUSIONAn eukaryotic expression plasmid of the AY358935 gene was successfully constructed. Product of the AY358935 gene may promote the proliferation of M14 cells.
4.A Novel Recombinant BCG Vaccine Encoding Eimeria tenella Rhomboid and Chicken IL-2 Induces Protective Immunity Against Coccidiosis.
Qiuyue WANG ; Lifeng CHEN ; Jianhua LI ; Jun ZHENG ; Ning CAI ; Pengtao GONG ; Shuhong LI ; He LI ; Xichen ZHANG
The Korean Journal of Parasitology 2014;52(3):251-256
A novel recombinant Bacille Calmette-Guerin (rBCG) vaccine co-expressed Eimeria tenella rhomboid and cytokine chicken IL-2 (chIL-2) was constructed, and its efficacy against E. tenella challenge was observed. The rhomboid gene of E. tenella and chIL-2 gene were subcloned into integrative expression vector pMV361, producing vaccines rBCG pMV361-rho and pMV361-rho-IL2. Animal experiment via intranasal and subcutaneous route in chickens was carried out to evaluate the immune efficacy of the vaccines. The results indicated that these rBCG vaccines could obviously alleviate cacal lesions and oocyst output. Intranasal immunization with pMV361-rho and pMV361-rho-IL2 elicited better protective immunity against E. tenella than subcutaneous immunization. Splenocytes from chickens immunized with either rBCG pMV361-rho and pMV361-rho-IL2 had increased CD4+ and CD8+ cell production. Our data indicate recombinant BCG is able to impart partial protection against E. tenella challenge and co-expression of cytokine with antigen was an effective strategy to improve vaccine immunity.
Adjuvants, Immunologic/genetics/*metabolism
;
Administration, Intranasal
;
Animals
;
Antigens, Protozoan/genetics/*immunology
;
BCG Vaccine/administration & dosage/*genetics
;
CD4-Positive T-Lymphocytes/immunology
;
CD8-Positive T-Lymphocytes/immunology
;
Chickens
;
Coccidiosis/*prevention & control
;
Disease Models, Animal
;
Drug Carriers/administration & dosage
;
Eimeria tenella/genetics/*immunology
;
Genetic Vectors
;
Injections, Subcutaneous
;
Interleukin-2/genetics/*metabolism
;
Protozoan Vaccines/administration & dosage/genetics/*immunology
;
Spleen/immunology
;
Vaccines, Synthetic/administration & dosage/genetics/immunology
5. Multicenter investigation of extracorporeal membrane oxygenation application in pediatric intensive care unit in China
Gangfeng YAN ; Xiaodi CAI ; Chengbin ZHOU ; Xiaoyang HONG ; Ying WANG ; Chenmei ZHANG ; Zihao YANG ; Yucai ZHANG ; Yun CUI ; Yanqin CUI ; Yibing CHENG ; Suyun QIAN ; Pengfei ZHANG ; Youpeng JIN ; Xiaodong ZHU ; Hong GAO ; Zipu LI ; Xiulan LU ; Hongjun MIAO ; Qiuyue ZHANG ; Yumei LI ; Weiguo YANG ; Chunyi LIU ; Bo LI ; Ying LI ; Zhenjiang BO ; Jianping CHU ; Xu WANG ; Guoping LU
Chinese Journal of Pediatrics 2018;56(12):929-932
Objective:
To survey the conduction and evaluate the effectiveness of extracorporeal membrane oxygenation (ECMO) therapy in pediatric intensive care unit (PICU) in China mainland.
Methods:
In a questionnaire-based survey, we retrospectively reviewed the application of ECMO in children's hospital and general hospital in China mainland to summarize and analyze the categories of diseases and prognosis of children treated with ECMO therapy.
Results:
By December 31, 2017, a total of 23 hospitals using ECMO, including 22 tertiary referral hospitals and 1 secondary hospital, among which 16 were children′s hospitals and 7 were general hospitals. Thirty-seven ECMO equipment was available. A total of 518 patients treated with ECMO, within whom 323 (62.4%) successfully weaned from ECMO and 262 (50.6%) survived to discharge. Among 375 pediatric patients, 233 (62.1%) were successfully weaned from ECMO and 186 (49.6%) survived to discharge. Among 143 newborn patients, 90 (62.9%) successfully weaned from ECMO, 76 (53.1%) survived to discharge. ECMO was applied in veno-arterial (VA) mode to 501 (96.7%) patients, veno-venous (VV) mode to 14 (2.7%) patients, and VV-VA conversion mode to 3 (0.6%) patients. Sixty-nine patients required extracorporeal cardiopulmonary resuscitation (ECPR), including 20 newborn patients (29.0%) and 38 pediatric patients (71.0%), who were all with cardiovascular disease. Neonatal respiratory distress syndrome (26/61), persistent pulmonary hypertension of the newborn (PPHN) (12/61), and meconium aspiration syndrome (MAS) (11/61) are the most common pulmonary diseases in newborn patients; among whom, infants with PPHN had highest survival rate (10/12), followed by MAS (9/11). Among newborn patients with cardiovascular diseases, those who admitted were after surgery for congenital cardiac disease were the most common (54/82), while those with septic shock had the highest survival rate (2/3). In pediatric pulmonary diseases, acute respiratory distress syndrome was the most common (42/93), while plastic bronchitis was with the highest survival rate (4/4), followed by viral pneumonia (13/16). Among pediatric cardiovascular diseases, congenital cardiac defect was the most common (124/282), while fulminant myocarditis had the highest survival rate (54/77).
Conclusion
The application of ECMO as a rescue therapy for children with severe cardiopulmonary failure has dramatically developed in China mainland.
6. Bioequivalence study of buthlphthalide injection in Chinese healthy volunteers
Mingmin CAI ; Huiping WANG ; Mingmin CAI ; Lu TANG ; Qiuyue SUN ; Ting DOU ; Wei QIAN ; Huiping WANG ; Jing SHAO
Chinese Journal of Clinical Pharmacology and Therapeutics 2022;27(1):70-76
AIM: To establish a method to investigate pharmacokinetics and bioequivalence of buthlphthalide injection. METHODS: An open, randomized, and two-cycle crossover study was conducted in 24 healthy volunteers. Plasma concentrations of buthlphthalide were determined by LC-MS/MS after administering a single dose of reference drug or test drug. Main pharmacokinetic parameters were calculated by Phoenix WinNonlin 6.4 software. RESULTS: For the test drug and the reference drug, the main pharmacokinetic parameters of flurbiprofen were as follows: AUC
7.3-Anhydro-6-hydroxy-ophiobolin A displays high in vitro and in vivo efficacy against influenza A virus infection.
Song WANG ; Xiaoqin LUO ; Ruoxiang YAN ; Quanxin WANG ; Qiuyue QI ; Xiaojuan CHI ; Lanlan ZHANG ; Ziding YU ; Binxiang CAI ; Ji-Long CHEN ; Hongwei LIU
Protein & Cell 2016;7(11):839-843