1.Anastalsis of triamcinolone acetonide during vitrectomy in proliferative diabetic retinopathy
Yanjie, ZHOU ; Caiyun, YOU ; Tian, WANG ; Mingxue, ZHANG ; Yinting, SONG ; Mengyu, LIAO ; Han, HAN ; Zhuhong, ZHANG ; Jianan, LI ; Hua, YAN
Chinese Journal of Experimental Ophthalmology 2017;35(5):439-442
Background Clinical work found that triamcinolone acetonide (TA)bleeding during vitrectomy in proliferative diabetic retinopathy (PDR),but its mechanism is not clear.Objective This study was to explore the anastalsis of TA in vitrectomy for PDR.Methods A prospective study was performed.Twelve eyes of 12 patients who received vitrectomy combined with the intraocular use of TA for PDR were in cluded in Tianjin Medical University General Hospital from 2011 to 2014 and served as TA group.Thirty-two eyes of 32 patients who underwent vitrectomy for epimacular membrane or macular hole were enrolled as control group.The vitreous specimens of 0.6 ~0.8 ml was collected during the surgery.The concentrations of urokinase plasminogen activator (u-PA),tissue plasminogen activator (t-PA) and plasminogen activator inhibitors 1 (PAI-1) in vatreous were measured by ELISA.Results The mean contents u-PA,t-PA and PAI-1 in the vatreous were 25.45,127.44 and 0.42 ng/ml respectively in the TA group,and those the mean contents in the control group were 22.94,142.37 and 0.27 ng/ml respectively,shouwing a significant difference between the TA group and the control group (Z=-2.268,P<0.05).NO significant difference was found in vitreous t-PA and PAI-1 between TA and control groups (Z =-0.092,-1.847,both at P>0.05).Conclusions Vitreous u-PA content is increased in PDR eyes,which is more likely to lead bleeding.Anastalsis of TA during vitrectomy for PDR may be relatived to decreasing vitreous t-PA and u-PA contents as well as increasing PAI-1 contents.
2.Prenatal diagnosis and genetic analysis of a 46,XN,del(11)(q14q22) fetus.
Liping ZHAO ; Huayu LUO ; Guixiang LUO ; Xianrong QIU ; Yanjie LIAO
Chinese Journal of Medical Genetics 2020;37(8):879-882
OBJECTIVE:
To diagnose a 46,XN,del(11)(q14q22) fetus by non-invasive prenatal testing (NIPT), karyotype analysis and whole genome sequencing (WGS).
METHODS:
Peripheral blood sample of the gravida was taken for NIPT screening. Blood samples of the gravida, her husband, and umbilical cord blood were also taken for chromosome karyotyping and whole genome sequencing (WGS).
RESULTS:
NIPT screening indicated the fetus has carried partial deletion of chromosome 11, while no chromosomal abnormality was found with the cord blood sample due to the low resolution of G-banding analysis. WGS analysis of the cord blood indicated 46,XN,del(11q14.3q22.1). seq[GRCh37/hg19] (90 623 404-97 469 319)×1, 6.85 Mb. The karyotype of the fetus was eventually determined as 46,XN,del(11)(q14q22). Karyotyping analysis suggested that the gravida and her husband were 46,XX,del(11)(q14q22)[8]/46,XX[92] and 46,XY, respectively. However, neither of them was found to harbor the del(11)(q14q22) by WGS.
CONCLUSION
The abnormal karyotype of the fetus has derived from its mother's low percentage mosaicism. Combined NIPT, karyotyping analysis and WGS can detect chromosomal disorders with accuracy.
3.Effects of ADRB2 gene regulatory region polymorphism on the efficacy of SABA in the treatment of acute asthma attack in children
Shinan ZHANG ; Bing WEI ; Mingxuan CAI ; Shie LIAO ; Xuan YOU ; Yanjie ZHI
China Pharmacy 2023;34(6):714-718
OBJECTIVE To explore the effects of ADRB2 gene regulatory region polymorphism on the efficacy of short-acting beta 2 receptor agonists (SABA) in the treatment of acute asthma attack in children. METHODS A total of 127 children with acute mild to moderate bronchial asthma who received SABA treatment for 7 days in the General Hospital of Northern Theater Command from October 2016 to October 2020 were selected to detect their genotype distribution and compare the improvement of pulmonary functional indicators and curative effect among different genotypes. The effect of the high-order interaction of gene polymorphism on therapeutic effect was investigated. RESULTS Among 127 children, there were 80, 44 and 3 cases of TT, TA and AA types at locus rs2895795, 93, 32 and 2 cases of CC, CG and GG types at locus rs11168070, and 41, 64 and 22 cases of GG, GA and AA types at locus rs12654778, respectively, in accordance with Hardy-Weinberg equilibrium (P>0.05). After treatment, the improvement rate of the peak expiratory flow in percent predicted value (PEF%pred) and the improvement rate of the forced expiratory flow at 75% vital capacity in percent predicted value (FEF75%pred) in children with TA type were significantly lower than that of TT type at locus rs2895795 (P<0.05); the improvement rates of PEF%pred and FEF75%pred in children with CG type were significantly lower than that of CC type at locus rs11168070 (P<0.05); the improvement rates of PEF%pred in children with GA and AA type were significantly lower than that of GG type at locus rs12654778 (P<0.05). The differences in fractional exhaled nitric oxide before and after treatment were not statistically significant among different genotypes at each locus (P>0.05). The proportion of remarkable improvement of children with TT type at locus rs2895795 was 2.358 times that of children with TA+ AA type (P<0.05), and there was no significant effect of higher-order interaction of ADRB2 polymorphism on the efficacy in children with asthma (P>0.05). CONCLUSIONS Polymorphisms in the regulatory region of the ADRB2 gene in children with bronchial asthma are associated with the efficacy of SABA in the treatment of acute asthma attack in children. At locus rs2895795, rs11168070 and rs12654778, the improvement of lung function of children with wild-type is more obvious, and the efficacy of SABA treatment on children with TT type is better at locus rs2895795.
4.Associations of genetic polymorphisms in Corin with blood pressure responses to salt and potassium intake
Lan WANG ; Zejiaxin NIU ; Yanjie GUO ; Nairong LIU ; Yanni YAO ; Beibei YANG ; Jiaxin WANG ; Chuang LI ; Panpan LIU ; Chang’e YANG ; Mingfei DU ; Guilin HU ; Xi ZHANG ; Dan WANG ; Xiaoyu ZHANG ; Chao CHU ; Yueyuan LIAO ; Qiong MA ; Keke WANG ; Hao JIA ; Yue SUN ; Tongshuai GUO ; Weihua GAO ; Jianjun MU ; Yang WANG
Journal of Xi'an Jiaotong University(Medical Sciences) 2023;44(1):22-29
【Objective】 Corin, a transmembrane serine protease that can cleave atrial natriuretic peptide precursor (pro-ANP) into atrial natriuretic peptide with smaller bioactive molecules, participates in the pathophysiological process of hypertension and cardiac hypertrophy. The purpose of this study was to explore the relationship of Corin gene variation with blood pressure responses to sodium and potassium dietary interventions. 【Methods】 In 2004, we recruited 514 participants from 124 families in 7 villages of Baoji, Shaanxi Province, China. All the subjects received a 3-day normal diet, a 7-day low-salt diet, a 7-day high-salt diet, and finally a 7-day high-salt and potassium supplementation. Fifteen single nucleotide polymorphisms (SNPs) of Corin gene were selected for final analysis. 【Results】 SNPs rs12509275 were significantly associated with diastolic blood pressure (DBP) response to low-salt diet, while rs3749584 was associated with pulse pressure (PP) response to low-salt diet.SNP rs3749584 and rs10517195 were significantly associated with PP response to high-salt diet. In addition,rs17654278 were significantly associated with systolic blood pressure (SBP) response to high-salt and potassium supplementation, rs2271037 was significantly correlated with DBP responses to high-salt and potassium supplementation, and rs4695253, rs12509275, rs2351783, rs36090894 were significantly associated with PP response to high-salt and potassium supplementation. 【Conclusion】 Corin gene polymorphisms were associated with blood pressure response to sodium and potassium, suggesting that Corin gene may be involved in pathophysiological process of salt sensitivity and potassium sensitivity.