Objective To summarize the clinical efficacy of interventional treatment for lower extremity arteriosclerosis obliterans and its complications.Methods We analyzed sixty-nine patients with lower extremities arteriosclerosis obliterans undergoing interventional treatment from October 2011 to January 2013.During the same period,three patients were referred to us who suffered from the complications of interventional treatment.In these patients,eight were TASC ⅡA type,twenty-one were TASC Ⅱ B,twenty TASC Ⅱ C,and twenty-two TASC Ⅱ D lesions.All patients received CTA or DSA.Seventy patients were treated by interventional treatment,and two who had fractured stent underwent external iliacsuperficial femoral artery bypass grafting using artificial grafts.Results The technique success rate was 100％.The symptoms disappeared after surgery.During interventional treatment,one iliac artery ruptured,one patient suffered from arterial perforation and three patients suffered from distal embolization.Sixty-eight patients were followed-up for 9 ± 4 months.Conclusions Endovascular treatment has good early clinical efficacy.In order to reduce the incidence of complications,indication of interventional treatment should be controlled strictly and manipulation should be careful.

Objective To report the prenatal molecular diagnosis for two gravida in a family with spondylepiphyseal dysplasia congenita(SEDC)caused by G504S mutation of COL2A1 gene.Methods DNA of the two fetuses was extracted from amniotic fluid at the 19+3 and 18+6 weeks of gestation respectively.Direct sequencing of two samples were performed after amplifying exon 23 of COL2A1 containing the potential mutation.The femur length and biparietal diameter of the first fetus were measured by sonographic scans every two weeks from 17+3 weeks to 27+3 weeks of gestation,and for the second fetus these parameters were measured from 16+1 to 19+1 weeks of gestation.Results Sequncing analysis revealed the first fetus and his mother presented the same mutation which is specifically associated with SEDC,but the second fetus did not show the mutation of COL2A1 gene.Biparietal diameters of the both fetuses were appropriate for gestational age.Femur length of the second fetus was normal for gestational age but that of the first fetus was shortened evidently after the 23 week of gestation.The parents of the first fetus determined to terminate the pregnancy.A medical termination was carried out at 27+5 weeks of gestation and a male fetus with a relatively large head and short limbs was delivered.The radiological findings of the fetus were consistent with SEDC including generalized platy spondesand shortened long bones.Conclusions Prenatal molecular diagnosis is important for the fetus with risk of SEDC and useful for genetic counseling.Genotype of fetus with risk of SEDC can be identified before sonographic scan.Molecular genetic analysis in conjunction with sonographic monitoring was helpful in prenatal diagnosis of SEDC.

Objective To investigate the relationship between ischemic time and thrombus types in patients with ST-segment elevation myocardial infarction (STEMI).Methods Eighty-two STEMI patients undergone emergency percutaneous coronary intervention (PCI) and coronary thrombus aspiration (CTA) from Sep.2012 to Apr.2016 were included and divided into 3 groups according to the ischemic time:≤4 hours (n=36),4-7 hours (n=30) and ＞7 hours (n=16).Visible aspirated thrombi were collected and separated into erythrocyte-rich type,platelet/fibrin-rich type and combined type thrombi by HE dying.The percentage difference of the 3 types thrombi was compared among the 3 groups.Results The percentage of platelet/fibrinrich type,erythrocyte-rich type and combined type thrombi in the 3 groups were as follows:in ≤4h group:61.1％(22/36),8.3％(3/36) and 30.6％(11/36),P=0.019;in 4-7h group:23.3％(7/30),10.0％(3/30) and 66.7％(20/30),P=0.012;and in ＞7h group:43.8％(7/16),12.5％(2/16) and 43.8％(7/16),P=0.913.For platelet/fibrin-rich type thrombi,the percentages in 3 periods were 61.1％(22/36),19.4％(7/36) and 19.4％(7/36),P=0.009;For combined type thrombi,the percentages in 3 periods were 28.9％(11/38),52.6％(20/38) and 18.4％(7/38),P=0.013;For erythrocyte-rich type thrombi,the percentages in 3 periods were 37.5％(3/8),37.5％(3/8) and 25.0％(2/8),P=0.895.Conclusions The types of intracoronary aspirated thrombi differ from various periods.Ischemia time may be an important predicted factor.

Objective To observe in vitro the effect of mechanical stress at different intensities on the pro-liferation, apoptosis and extracellular matrix of degenerative human nucleus pulposus cells. Methods The cells were isolated and cultured in vitro, and divided into a control group, a low-intensity group, a medium-intensity group and a high-intensity group. The low-, medium- and high-intensity groups were stretched mechanically by 1000 μ, 2000μor 4000μrespectively for 6 hours using a four-point bending system, while the control group was not stressed. Flow cytometry was used to explore any changes in the cell cycle and the proliferation index ( PI) . The expression of proliferating cell nuclear antigen ( PCNA) , B-cell lymphoma-2 ( BCL-2)/Bax, collagen II and aggrecan were meas-ured using real-time quantitative polymerase chain reactions. Results The mechanical stretching significantly influ-enced proliferation, apoptosis and the extracellular matrices compared with the control group. The PI and PCNA ex-pression increased at first and then decreased gradually with the exercise intensity. Compared with the control group, the mRNA expression level of Bcl-2/Bax increased significantly to 1.53 times that of the control group after 1000 μstretching, but to only 0.71 times that of the control group at 2000μand 0.43 times at 4000μ. The gene expression of collagen II increased significantly by 1. 1 times and that of aggrecan by 1. 3 times after 1000 μ stress stimulation compared with the control group ( P≤0.05) . However, the expression of collagen II and aggrecan was inhibited sig-nificantly at 2000 and 4000 μ , with the lowest levels at 4000 μ (P≤0.05). Conclusion Stretching at different intensities has different effects on the proliferation, apoptosis and extracellular matrix of human pulposus cells with degenerate nuclei.

Objective: To investigate the impact of symptom onset to first medical contact (SO-to-FMC)time on the prognosis of patients with acute ST-segment elevation myocardial infarction(STEMI). Methods: The clinical data of 341 consecutive STEMI patients, who were hospitalized to our hospital and received primary percutaneous coronary intervention(PCI) from August 2011 to April 2016, were retrospectively analyzed. The patients were divided into ≤90 min group (201 cases) and >90 min group (140 cases) according to the SO-to-FMC time. The treatment time, mortality and incidence of major adverse cardiac and cerebro-vascular events(MACCE) were analyzed. The risk factor of 1-year mortality after PCI and 1-year incidence of MACCE during the post-discharge follow-up period were analyzed by binary logistic regression analysis. The predictor of 4.5-year mortality after PCI was analyzed by multivariate Cox regression analysis. Methods The door to balloon time (104(88, 125) min vs. 111(92, 144)min, P=0.023), first medical contact to balloon time(146(119, 197) min vs. 177(125, 237)min, P=0.005), and symptom onset-to-balloon time(200(170, 257) min vs. 338(270, 474)min, P<0.001)were all significantly shorter in the ≤90 min group than in>90 min group. The 30-day mortality (2.99% (6/201) vs. 7.86%(11/140), P=0.042), 1-year mortality (2.89 (5/173) vs. 9.57(11/115), P=0.015), 1-year incidence of MACCE during the post-discharge follow-up period(1.16%(2/173) vs. 6.96%(8/115), P=0.021), and 4.5-year cumulative mortality(3.00% vs. 11.20%, P=0.007) after PCI were significantly lower in the ≤90 min group than in the >90 min group. Moreover, the 4.5-year incidence with free of MACCE (97.20% vs. 88.80%, P=0.025) during the post-discharge follow-up period was significantly higher in the ≤90 min group than in the >90 min group. In-hospital mortality was similar between the two groups (2.49%(5/201) vs. 6.43%(9/140), P=0.071). Results: The door to balloon time (104(88, 125) min vs. 111(92, 144)min, P=0.023) , first medical contact to balloon time(146(119, 197) min vs. 177(125, 237)min, P=0.005), and symptom onset-to-balloon time(200(170, 257) min vs. 338(270, 474)min, P<0.001) were all significantly shorter in the ≤90 min group than in >90 min group. The 30-day mortality(2.99% (6/201) vs. 7.86%(11/140), P=0.042), 1-year mortality (2.89(5/173) vs. 9.57(11/115), P=0.015), 1-year incidence of MACCE during the post-discharge follow-up period (1.16%(2/173) vs. 6.96%(8/115), P=0.021), and 4.5-year cumulative mortality (3.00% vs. 11.20%, P=0.007) after PCI were significantly lower in the ≤90 min group than in the >90 min group. Moreover, the 4.5-year incidence with free of MACCE (97.20% vs. 88.80%, P=0.025) during the post-discharge follow-up period was significantly higher in the ≤90 min group than in the >90 min group. In-hospital mortality was similar between the two groups (2.49%(5/201) vs. 6.43%(9/140), P=0.071). Results of binary logistic regression analysis showed that the SO-to-FMC time >90 min was the risk factor of 1-year mortality(OR=2.90, 95%CI 1.22-6.92, P=0.016) and 1-year incidence of MACCE (OR=5.19, 95%CI 1.21-22.20, P=0.026) during the post-discharge follow-up period. Multivariate Cox regression analysis demonstrated that the SO-to-FMC time >90 min was the risk factor of 4.5-year mortality after PCI in patients with STEMI (HR=2.88, 95%CI 1.10-7.53, P=0.031). Conclusion Shorting the SO-to-FMC time can significantly reduce the treatment time of STEMI patients, short and long-term mortalities and the incidence of MACCE, and improve the prognosis of patients with STEMI.

OBJECTIVE: To explore the genetic basis for a child with multiple malformations. METHODS: A child who had presented at Shanxi Provincial Children's Hospital in February 2021 was selected as the study subject. Clinical data of the patient was collected, and whole exome sequencing (WES) was carried out to screen pathogenic variants associated with the phenotype. Candidate variant was validated by Sanger sequencing of her family members. RESULTS: The child had normal skin, but right ear defect, hemivertebral deformity, ventricular septal defect, arterial duct and patent foramen ovale, and separation of collecting system of the left kidney. Cranial MRI showed irregular enlargement of bilateral ventricles and widening of the distance between the cerebral cortex and temporal meninges. Genetic testing revealed that she has harbored a heterozygous variant of NM_178014.4: c.217A>G (p.Met73Val) in the TUBB gene, which was unreported previously and predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The child was diagnosed with Complex cortical dysplasia with other brain malformations 6 (CDCBM6). CONCLUSION CDCBM is a rare and serious disease with great genetic heterogeneity, and CDCBM6 caused by mutations of the TUBB gene is even rarer. Above finding has enriched the variant and phenotypic spectrum of the TUBB gene, and provided important reference for summarizing the genotype-phenotype correlation of the CDCBM6.
Humans ; Child ; Female ; Abnormalities, Multiple ; Blood Group Antigens ; Family ; Malformations of Cortical Development/genetics* ; Brain ; Mutation