OBJECTIVE: To assess the clinical value of non-invasive prenatal testing (NIPT) for the screening of trisomy and copy number variations (CNVs) of chromosomes 21, 18 and 13. METHODS: From January 2015 to December 2019, 40 628 pregnant women underwent NIPT testing using high-throughput sequencing and bioinformatics analysis to test the cell-free fetal DNA in maternal plasma. High-risk pregnant women underwent invasive prenatal diagnosis, while low-risk ones were followed up by telephone. RESULTS: The three most common indications included intermediate risk of serological screening, high risk of serological screening and advanced maternal age. Among all pregnant women, 257 cases were detected as trisomy 21, 18 and 13 (170, 49 and 38 cases, respectively). 227 cases chose invasive prenatal diagnosis, with respectively 122, 28 and 10 cases confirmed. The positive predictive value (PPV) was 81.33% (122/150), 65.12% (28/43), 29.41% (10/34), respectively. Two false negative cases of trisomy 18 were found during follow-up. Meanwhile, NIPT has detected 46 cases (15, 16 and 15 cases, respectively) CNVs on chromosomes 21, 18 and 13, among which 37 cases underwent invasive prenatal diagnosis. There were 5, 3 and 5 positive cases, which yielded a PPV of 41.67% (5/12), 25%(3/12) and 33.33%(5/15), respectively. Two other chromosome CNVs were accidentally discovered among the false positive samples. CONCLUSION The incidence of chromosomal abnormalities in the serological screening high-risk group was 52.02%, which was significantly higher than other groups. NIPT has a high sensitivity and specificity for the screening of trisomies 21, 18 and 13, while its accuracy for detecting CNVs of chromosomes 21, 18 and 13 needs to be improved. As a screening method, NIPT has a great clinical value, though there are still limitations of false positive and false negative results.Comprehensive pre- and post-test genetic counseling should be provided to the patients.
Aneuploidy ; Chromosome Disorders/genetics* ; Chromosomes ; DNA Copy Number Variations ; Down Syndrome/genetics* ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics* ; Trisomy 18 Syndrome/genetics*

Objective To investigate the relationship between LUTS and degree,type of prostate histological inflammation in patients with benign prostatic hyperplasia (BPH).Methods From October 2013 to June 2016, 150 patients with BPH(62 -82 years old)were treated with selective TURP.After operation,the pathology examina-tion was practised.According to the international prostatitis histological classification standard,the patients were divid-ed into group A(without inflammation,18 cases),group B(inflammation around gland,45 cases),group C(gland inflammation,33 cases)and group D(mixed inflammation group,54 cases).There were no statistically significant differences among the 4 groups in age,course of disease,number of urinary retention and prostate volume(all P >0.05).The IPSS score before and 2 months after operation and the correlation between the IPSS and degree,type of histological inflammation were observed.Results In group A and C,the preoperative IPSS score and IPSS score at 2 months after surgery were (17.20 ±11.14)points,(8.45 ±5.14)points and (18.05 ±13.11)points,(9.85 ± 5.25)points respectively,there were no statistically significant differences between the two groups(t =0.485,1.294, all P >0.05).There were no statistically significant differences between group B[(22.55 ±11.85)points,(13.24 ± 6.46)points]and group D[(21.45 ±10.35)points,(12.36 ±6.04)points](t =0.824,1.436,all P >0.05).The group B had statistically significant differences compared with group A and group C (t =2.689,5.016,3.642,4.382, all P <0.05).The group D also had statistically significant differences compared with group A and group C (t =2.786,4.672,6.415,5.106,all P <0.05 ).There was positive correlation between the IPSS score before and 2 months after operation and the degree of inflammation in group B,D(B:r =0.698,0.795,D:r =0.546,0.485,all P <0.05),but there was no correlation in group C between them(r =0.182,0.170,all P >0.05 ).Conclusion There is a close correlation between LUTS and inflammation around gland in patients with BPH,and the LUTS can aggravate with the increased inflammation around gland and do not relate with the gland inflammation.

Objective To explore the clinical effectiveness and safety of selective usage of embolic protection device to prevent distal embolization during SilverHawk atherectomy for atherosclerotic femoropo-pliteal artery disease. Methods From Jan 2014 to December 2015, 45 femoropopliteal artery atherosclerot-ic patients were treated with SilverHawk atherectomy and selective embolic protection device (EPD). The indication for EPD was instent restenosis, highly calcified lesion, suspicious of thrombosis, ulcerated le-sion, and single below-the-knee runoff. All cases who met the indication were treated with atherectomy and EPD, and those who did not meet the indication were treated with or without EPD according to the patient's choice. The embolic related complications were analyzed. Results Twenty three out of 45 patients who met the EPD indication were all treated with SilverHawk atherectomy under EPD protection, filter captured deb-ris in 17 patients (73. 9％) of the patients. The other 22 patients who did not meet the indication were di-vided into 2 groups according to the patient's choice of EPD usage, 11 were treated by atherectomy with EPD and 11 without EPD. One case out of 11 unindicated patients without EPD suffered a tibioperoneal trunk embolization and restored with catheter aspiration. For 1/11 (9. 1％) unindicated cases with EPD protec-tion, the filter captured embolization. There was a significant difference of distal embolization rate between the indicated and unindicated patients (χ2 =19. 368,P =0. 000). All filters were retrieved successfully without any distal embolization and any complications except arterial spasm occurred in 2 patients and re-stored well with nitroglycerin. Conclusions It is safe and effective for selective usage of embolic protection device to prevent distal embolization during SilverHawk atherectomy for atherosclerotic femoropopliteal artery disease.

Objective To investigate the clinical outcome of drug-coated balloon ( DCB) treated atherosclerosis obliterans ( ASO) in lower extremity. Methods Data of 28 patients were retrospectively an-alyzed to determine the effectiveness and characteristics of DCB treatment. Results All the 28 patients were successfully treated with endovascular intervention therapy. Lesions mainly located in the superficial femoral arteries were divided into Groups A, B, C, and D according to TransAtlantic InterSociety Consensus (TASC) Ⅱ classification. Follow-up at 6, 9, and 12 months showed 100％, 84. 6％ and 76. 9％ patency rate in treated artery. After 9 months of endovascular intervention therapy, the combined artery patency rates in Groups A and B was 92. 8％, which was significantly better than 66. 7％ in Groups C and D ( P <0. 05 ) . DCB angioplasty had an artery patency rate of 86. 7％, while DCB angioplasty plus stenting had the patency rate of 85. 7％ (P>0. 05). Artery patency rate of Simple DCB angioplasty in ten patients (Exclu-ding patients with in-stent restenosis ) was 80％ and of Atherectomy plus DCB angioplasty in 5 patients was 100％ (P<0. 05). Conclusions DCB angioplasty has superiority over conventional intervention therapy. Combined debulky and DCB angioplasty appear to be the best choice in current treatment of ASO in lower extremity.

Objective To evaluate the clinical efficacy of bladder gasification and stasis dispersion in BPH patients with histological prostatitis after TUEP about IPSS /Qol score.Methods 126 BPH patients with histological prostatitis after TURP were divided into group A,B and C of equal number,and received oral placebo,tamsulosin,and herbal decoction a week after operation,respectively,for a course of 4 weeks.IPSS and Qol score were evaluated. Results After 5 weeks,121 cases finished the follow -up,the unfinished were 2 cases in group A,2 cases in group B and 1 cases in group C.The differences of the IPSS total scores,irritative subscore,obstructive subscore,quality of life score in group C(7.16 ±3.37)points,(4.22 ±2.70)points,(2.94 ±2.06)points,(1.47 ±1.44)points were statis-tically significant than those in group A[(13.77 ±4.50)points,(7.48 ±3.50)points,(6.29 ±2.63)points,(2.83 ± 1.72)points]and group B [(12.77 ±5.24)points,(8.05 ±3.88)points,(4.72 ±3.24)points,(3.07 ± 1.67)points](t =2.692,3.544,3.296,2.698 and t =2.326,3.532,2.418,2.414;all P <0.05).There was only obstructive subscore in group B better than that in group A(t =2.572,P <0.05).Conclusion Bladder gasification and stasis dispersion is effective for the treatment of BPH patients with histological prostatitis after TUEP about IPSS and Qol score.The clinical effect is indeed and satisfactory.

OBJECTIVE: To explore the effect of ROCK inhibitor Y-27632 on the matrix metalloproteinase 2 and 9 (MMP2 and MMP9) gene expression and activity in tumor necrosis factor α (TNF-α)-treated human umbilical vein endothelial cell (HUVEC).
 METHODS: HHUVEC was divided into 3 groups, a control group, a TNF-α group, and a TNF-α plus Y-27632 group. The expressions of vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), MMP2 and MMP9 were examined by real-time PCR. The MMP2/9 activity was measured by gelatin zymography.
 RESULTS: Compared to the control group, the mRNA expressions of ICAM-1, VCAM-1, MMP2 and MMP9 were increased TNF-α-treated cells, which were suppressed by ROCK inhibitor (P<0.01). The MMP2/9 activity was elevated in TNF-α-treated cells, which was reversed by ROCK inhibitor (P<0.05).
 CONCLUSION ROCK inhibitor can suppress TNF-α-induced inflammation in endothelial cells through down-regulation of MMP2/9.
Amides ; Cells, Cultured ; Down-Regulation ; Endothelial Cells ; Humans ; Intercellular Adhesion Molecule-1 ; Matrix Metalloproteinase 2 ; Matrix Metalloproteinase 9 ; Pyridines ; Signal Transduction ; Tumor Necrosis Factor-alpha ; Umbilical Veins ; Vascular Cell Adhesion Molecule-1 ; rho-Associated Kinases

OBJECTIVETo explore the impact of glycogen synthase kinase-3β (GSK-3β) on Wnt and NF-κB pathways in a rat model of diabetic nephropathy (DN).

METHODSSD rats were randomly divided into normal control group (NC), DN model group (DM) and GSK-3β inhibitor group (DI). Blood glucose and 24-hour urine protein were monitored in three groups. Renal tissue samples were stained by HE. The expression of GSK-3β and NF-κB proteins was studied by immunohistochemistry. GSK-3β and NF-κB mRNAs were detected by RT-qPCR.

RESULTSTen weeks after STZ injection, the level of blood glucose increased significantly in DM group [(23.2±5.4) mmol/L] and DI group [(25.0±4.0) mmol/L], compared with NC group, and the level of 24-hour urinary protein increased significantly in DM group [(185.2±35.6) g/24 h] and DI group [(179.6±44.7) g/24 h], compared with NC group. Two weeks after LiCl injection, the level of blood glucose and 24-hour urinary protein decreased in DI group (17.6±2.1) mmol/L, (106.9±30.0) g/24 h], compared with DM Group. Compared with NC group, pathological changes of the kidney of DM group aggravated along with increased mRNA and protein expression of GSK-3β and NF-κB. But the pathological changes of the kidney in DI group alleviated along with declined mRNA and protein expression of GSK-3β and NF-κB as compared with DM group (all P<0.05).

CONCLUSIONSNF-κB protein expression positively correlates with the GSK3β expression. Wnt and NF-κB signal pathways play an important role in the development of diabetic nephropathy.

Animals ; Diabetic Nephropathies ; metabolism ; Disease Models, Animal ; Glycogen Synthase Kinase 3 ; antagonists & inhibitors ; metabolism ; Glycogen Synthase Kinase 3 beta ; Kidney ; pathology ; NF-kappa B ; metabolism ; Rats ; Rats, Sprague-Dawley ; Signal Transduction ; Wnt Signaling Pathway

Objective:To explore blood pressure variability (BPV)characteristics in patients with sustained,masked hypertension (MH)and white coat hypertension (WCH).Methods:A total of 527 cases undergoing physical exami-nation in our hospital from Dec 2010 to Dec 2012 were treated as subjects.According to characteristics of blood pressure (BP),they were divided into sustained hypertension group (SH group,n= 143),MH group (n= 93), WCH group (n=86)and normal control group (NC group,n=205).CV (coefficient of variation)=BPV/mean BP.Results:BP-CV of MH group and SH group were significantly higher than that of NC group [24h systolic blood pressure (SBP)-CV: (27.73±5.36)% vs.(29.83±5.95)% vs.(17.93±4.85)%,24h diastolic blood pressure (DBP)-CV: (23.02±4.63)% vs.(22.69 ± 4.63)% vs.(14.32 ± 4.21)%,daytime (d)SBP-CV: (25.12 ± 4.79)% vs.(25.98±4.73)% vs.(14.97±4.29)%,dDBP-CV:(21.03±4.59)% vs.(20.92±4.53)% vs.(11.79 ±4.43)%,nighttime (n)SBP-CV: (21.52±4.93)% vs.(22.37±4.98)% vs.(11.57±4.19)%,nDBP-CV:(18.79±4.83)% vs.(20.09 ± 5.19)% vs.(6.98 ± 3.69)%],P < 0.01 all;however,there was no significant difference in BP-CV between WCH group and NC group,SH group and MH group (P >0.05).Conclusion:Blood pressure variability significantly rises in patients with sustained and masked hypertension,which may be one of main causes for severe target organ damage in these patients.

Objective To study the effect of case-based learning(CBL) combined with virtual reality simulator in peripheral vascular intervention training for refresher doctors.Methods Total 30 peripheral vascular refresher doctors were selected in department of vascular surgery,Xuanwu Hospital of Capital Medical University and were randomly divided into the observation group(n=15) and control group(n=15).Doctors in observation group were trained by CBL combined with virtual reality simulator while those in control group were taught by traditional teaching method.Theory examination,skill examination in real environment were performed after the training and achievement differences were compared between 2 groups.Questionnaires were given to the simulator CBL group,to learn refresher doctors' recognition of the teaching method and groups were compared using independent samples t test.Results Theory examination average score was (84.5 ± 7.7) in observation group,higher than the score(72.6 ± 8.7) in control group(P=0.024).Skill examination average score was(85.3 ± 9.3) in observation group,higher than the score(70.2 ± 10.2) in control group(P=0.013).Compared with control group,the mean performance errors in training group,the contrast volume,the mean angiography procedure time,the time of X-ray exposure,the total volume of X-ray exposure and the total volume of X-ray exposure every square meter all decreased significantly and the difference was statistically significant.P value＜0.05.100％ (15/15) simulator CBL group refresher doctors recognized CBL combined with vascular interventional simulator teaching method.Conclusions Teaching method of CBL combined with virtual reality simulator can stimulate the refresher doctors' interest in learning and help them master peripheral vascular interventional techniques.