1.Relationship between serum BMP4 and Netrin-4 levels and disease stage and prognosis in patients with diabetic retinopathy
Zujiang PENG ; Chaoxia CAO ; Fangxin ZENG ; Longying WANG ; Qian TANG
International Journal of Laboratory Medicine 2024;45(20):2515-2519
Objective To analyze the serum levels of bone morphogenetic protein 4(BMP4)and nerve ax-on guidance factor 4(Netrin-4)in patients with diabetic retinopathy(DR),and to study their relationship with disease stage and prognosis.Methods A total of 186 patients with type 2 diabetes admitted to the hospi-tal from October 2019 to November 2022 were selected as the research objects.According to the presence or absence of retinopathy,they were divided into DR Group(108 cases)and non-DR group(78 cases),and 100 healthy people in the hospital were selected as the control group.According to the stage of DR,the DR pa-tients were divided into stage Ⅰ(19 cases),stage Ⅱ(14 cases),stage Ⅲ(22 cases),stage Ⅳ(23 cases),stage V(18 cases)and stage Ⅵ(12 cases).According to the visual impairment after treatment,the DR patients were divided into a good prognosis group(72 cases)and a poor prognosis group(36 cases).Serum BMP4,Ne-trin-4,fasting plasma glucose(FPG),glycated hemoglobin Alc(HbA1c),systolic blood pressure(SBP),dias-tolic blood pressure(DBP),triglyceride(TG),total cholesterol(TC),low density lipoprotein cholesterol(LDL-C),high density lipoprotein cholesterol(HDL-C)were detected by enzyme-linked immunosorbent as-say.The serum levels of BMP4 and Netrin-4 in DR patients with different disease stages were analyzed.Multi-variate Logistic regression was used to analyze the influencing factors of DR,and the serum levels of BMP4 and Netrin-4 in DR patients with different prognosis were analyzed.The receiver operating characteristic(ROC)curve was used to analyze the diagnostic value of poor prognosis in DR patients.Results The FPG,HbA1c,SBP,DBP,TG,TC,BMP4,Netrin-4 levels in DR group were higher than those in control group and non-DR group,while HDL-C level was lower than that in control group and DR group(P<0.05).There were significant differences in serum BMP4 and Netrin-4 levels between DR patients with different disease stages(P<0.05).HbA1c,BMP4 and Netrin-4 levels were influencing factors for the occurrence of DR(P<0.05).The serum levels of BMP4 and Netrin-4 in the poor prognosis group were higher than those in the good prog-nosis group(P<0.05).The combination of serum BMP4 and Netrin-4 levels in the diagnosis of poor progno-sis of DR patients was better than that of each index alone.Conclusion The serum levels of BMP4 and Ne-trin-4 are increased in DR patients,which can assist in the evaluation of the disease stage of the patients.The combination of BMP4 and Netrin-4 has a good effect in the diagnosis of poor prognosis of patients.
2.Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality
Liyun FENG ; Yuanqing GUO ; Haixia MA ; Limei HE ; Fen SONG ; Yuqing ZHOU ; Longying TANG
Chinese Journal of Medical Genetics 2022;39(7):768-772
Objective:To carry out prenatal screening and diagnosis for a woman with advanced maternal age.Methods:Non-invasive prenatal testing (NIPT) was carried out to determine the risk of fetal chromosome aneuploidy. Aminiocentesis was proceeded for fetal chromosomal karyotyping and copy number variation sequencing (CNV-seq). The fetus was subjected to systematic ultrasound screening in the second trimester.Results:NIPT has indicated there was a loss of fetal sex chromosome. Karotyping of the amniocyte showed a mosaic sex chromosome abnormality 45, X[53]/46, X, + mar[7]. The result of fetal DNA CNV-seq was seq[GRCh37]del(Yq11.1q12) chrY: g. 13 104 553-28 819 361del, seq[GRCh37]del(Yp11.32p11.2) chrY: g. 10 001-9 873 915del (mosaic ratio: 30%). Ultrasonography discovered that the fetus had renal dysplasia and male external genitalia. The karyotypes of the couple were both normal.Conclusion:Multiple genetic tests should be carried out for fetus with a high risk for chromosome aneuploidies signaled by NIPT. It is difficult to predict the post-natal phenotype for fetuses with mosaic sex chromosomal aneuploidies. The couple should be carefully counseled upon genetic counseling.