1.Advances in the research of hemodynamics of the pathogenesis of intracranial aneurysms
Dan ZHANG ; Caiying LI ; Bulang GAO ; Fangying JIA ; Chenguang KOU ; Cen WANG
Journal of Interventional Radiology 2017;26(4):378-382
Hemodynamics is a discipline that studies the effects of blood flow,blood flow volume and other factors on the arterial wall.Intracranial aneurysm is the main cause of death due to non-traumatic subarachnoid hemonhage,which has brought a heavy burden on society.Therefore,it is very important to make an intensive study of the pathogenesis of aneurysm.With the development of medical imaging technology and fluid mechanics software in recent years,it becomes possible to make the precise and scientific studies of the hemodynamics of intracranial aneurysms.In this paper,the hemodynamic factors inducing the formation of intracranial aneurysm that are proposed by medical experts at home and abroad are reviewed,and the hemodynamic mechanism is discussed.
2.Relationship Between Paracardial Adipose Tissue Volume, Body Mass Index and Severe Coronary Artery Stenosis in Young People
Qibin LIAO ; Caiying LI ; Tong PAN ; Dan ZHANG ; Chenguang KOU ; Cen WANG ; Fangying JIA ; Cairui ZHENG
Chinese Circulation Journal 2017;32(1):46-49
Objective:To evaluate the relationship betweenparacardial adipose tissue (PAT) volume, body mass index (BMI) and severe coronary artery stenosis in young people by quantitative measurement of 256-slice spiral CT.
Methods: A total of 150 patients younger than 45 years and received coronary angiography (CAG) in our hospital were divided into 2 groups:Lesion group, the patients with severe main coronary branch stenosis and Control group, patients with normal coronary artery. n=75 in each group. The height, body weight and BMI were recorded in all patients;imaging data was uploaded to the workstation to calculate the volumes ofepicardiumadipose tissue (EAT) volume,pericardial outsideadipose tissue volume and PAT volume, the correlation among 3 parameters were analyzed respectively.
Results:Compared with Control group, Lesion group had increased BMI (28.169±2.203) kg/m2 vs (24.960±3.041) kg/m2 and PAT volume (178.676±3.041) ml vs (99.0616±3.041) ml, all P<0.05. Compared with Control group,no matter male or female, Lesion group had larger PAT volume, P<0.01.EAT volume was related to pericardial outside adipose tissue volume (r=0.837, P<0.001) and PAT volume (r=0.971, P<0.001);pericardial outside adipose tissue volume was related to PAT volume (r=0.944, P<0.001).
Conclusion:PAT volume and BMI were obviously correlated to severe coronary artery stenosis in young people.
3.Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome
Pengyun LI ; Jing GUO ; Jia CHE ; Fangying CUI ; Yuexia LYU ; Hua ZHANG ; Ying LI ; Ling LIU
Chinese Journal of Medical Genetics 2024;41(3):266-270
Objective:To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome.Methods:Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed.Results:The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. Conclusion:Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.
4.Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome
Jia PENG ; Bo YANG ; Handuo WANG ; Zhiying ZHANG ; Fangying CUI ; Haiyu LI ; Yueshu ZHAO ; Ling LIU
Chinese Journal of Medical Genetics 2024;41(8):973-976
Objective:To explore the clinical characteristics and variant of CREBBP gene in a fetus with Rubinstein-Taybi syndrome (RSTS). Methods:A fetus with RSTS diagnosed at the Third Affiliated Hospital of Zhengzhou University in August 2022 was selected as the study subject. Clinical data, amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:Foot malformation, cerebellar vermis agenesis, brain agenesis, polysyndactyly of the big toes and other phenotypes were found by prenatal ultrasound. WES revealed that the fetus has harbored a heterozygous c. 4684G>T (p.E1562*) variant in exon 28 of the CREBBP gene (NM_004380.3), which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+ PS2_Moderate+ PM2_Supporting). After genetic counseling, the couple had opted to terminate the pregnancy and refused autopsy for the fetus. Conclusion:The c. 4684G>T (p.E1562*) variant of the CREBBP gene probably underlay the RSTS in this fetus. The newly discovered variant has enriched the mutational spectrum of the CREBBP gene and illustrated that WES is an efficient tool for the prenatal diagnosis of RSTS.
5.Applicability of reference cells in lentiviral vector integration site detection with different methods
Xiaoya ZHOU ; Fangying JIA ; Xueling WU ; Kehua ZHANG ; Shufang MENG
Chinese Journal of Microbiology and Immunology 2023;43(10):791-801
Objective:To evaluate the feasibility of 8E5 cells and CD19-CAR-Jurkat cells used as reference cells in the detection of lentiviral vector integration sites with different methods.Methods:Single clones of 8E5 cells and CD19-CAR-Jurkat cells were selected using limiting dilution method. Digital PCR was established to detect the copy number of HIV-1 in 8E5 cells and the copy number of CAR in CD19-CAR-Jurkat cells. High-throughput sequencing techniques (whole-genome resequencing, modified genome sequencing and probe hybridization capture) were used to detect integration sites in 8E5 cells and CD19-CAR-Jurkat cells, and optical genome mapping (OGM) technology was used for further confirmation.Results:Three clones of 8E5-D8 cells and six clones of CD19-CAR-Jurkat 2-6 cells were selected using the limiting dilution method. 8E5-D8 and CD19-CAR-Jurkat 2-6 were chosen as candidate cells based on their gene copy numbers detected by digital PCR and flow cytometry. These cells were then expanded and cryopreserved. Digital PCR showed that 8E5-D8 cells contained approximately 1 copy per cell, while CD19-CAR-Jurkat 2-6 cells contained approximately 13 copies per cell. High-throughput sequencing revealed one integration site in 8E5 cells and 13 integration sites in CD19-CAR-Jurkat cells, which matched the copy number detection results. All these integration sites were further confirmed at the submicroscopic level of chromosomes using OGM.Conclusions:Based on the insertion copy numbers and integration sites, 8E5-D8 cells and CD19-CAR-Jurkat 2-6 cells could be used as reference cells in further development of methods for detecting integration sites in CAR-T cell lentiviral vectors.