Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.

Objective:To understand the Penn Acoustic Neuroma Quality of Life (PANQOL) Scale, and to promote the consistency of Chinese-English scale language expression.Methods:By objective sampling method, 30 patients who met the inclusion criteria were used as the subjects to conduct one-to-one cognitive interviews to explore the understanding of the contents of the PANQOL scale. The consistency of the items of the scale and its response scale, as well as the possible problems of the scale. According to the interview results, the Chinese version of the PANQOL scale was established by optimizing the items, expressions and words used.Results:Two rounds of cognitive interviews were conducted in this study. The results of the first round showed that the items of the scale were not set properly and the 8 items appeared "understanding difference, non-verbal expression" and so on. The second round of interviews showed that the revised scale items were more similar to the original scale.Conclusions:Cognitive interview is helpful for researchers to find out the problems of the Chinese version PANQOL scale in the process of filling out the target population, and to guide the group to revise the items in doubt, so that the language of the scale after cultural adjustment is easy to understand, the expression is more local, and finally the quality of the scale is improved.

Objective To detect the relationship of pathological grade and stage of bladder cancer with common chromosomal aberrations of urine exfoliated cells by FISH. Methods A total of 99 urine samples were detected by FISH with probes of chromosomes 3,7,17 and 9p21 to collect pathological grade and stage information of bladder tumor tissues. Results (1) The aberrations of chromosome 3 and 17 had significant correlation with pathological grade and stage (P<0.05) but that of chromosome 7 had no correlation with pathological stage (P>0.05), but had correlation with grade (P < 0.05). The aberration of 9p21 had no correlations with pathological grade or stage (P > 0.05). (2)The polysomic chromosomal aberrations of chromosomes 3, 7 and 17 assessed correlated with high-grade and high-stage bladder carcinoma. The 9p21 deletion was found at a significant frequency in low-grade and low-stage lesions, when, 9p21 amplification was found at a significant frequency in high-grade and high-stage lesions. Conclusions Aberrations of the four chromosomes, especially polysomic chromosomal aberrations of the bladder cancer cases could present a possible trend toward greater chromosome increased with tumor grades and progressive stages of invasion.

Objective To investigate a non-invative , sensitive and specific method to diagnose bladder cancer, and evaluate the value of the combination of FISH with NMP22 in the diagnosis of bladder cancer. Methods Urine from 68 patients suspected suffering from bladder cancer were used by FISH, NMP22 expression and cytologi-cal examination, respectively. The results of above detections were compared to the subsequent histopathology as-say to analyze the specicficity, sensitivity of diagnosis for bladder cancer. Results The sensitivity of FISH, NMP22 expression and the cytological examination was 81.4%,86.0% and 39.5% respectively, and the specifici-ty of FISH, NMP22 expression and the cytological examination was 84.0%, 72.0% and 96.0%, respectively. The sensitivity and specificity of the combination of FISH with NMP22 was 79.1% and 92.0%. Conclusions The combined diagnosis of FISH and NMP22 for bladder cancer showed greater sensitivity than that of the conventional cytology, with similar specificity as the conventional cytology. The combination of FISH with NMP22 test shows more value for the diagnosis of bladder cancer than any single assay.

Objective To identify the best technique of postmastectomy radiation therapy (PMRT).Methods Twenty-eight patients with stage Ⅱ or Ⅲ invasive breast cancer were treated with modified radical mastectomy and radiotherapy sequaciously involving the supraclavicular region and the chest wall.Three different techniques were developed for each patient:two tangential conformal fields ( half field) in the chest wall plus supraclavicular intensity modulated radiotherapy (3D-CRT + IMRT),integrated chest wall and supraclavicular IMRT(IMRT),and two tangential conformal fields (half field) in the chest wall plus single field electron beam radiotherapy in the supraclavicular region( 3D-CRT + E).The dose distributions of the target areas and the irradiated volumes of the ipsilateral lung ( V5,V10,V20,and V45)were estimated with the dosage volume histogram (DVH).The dosage prescription was 50.4 Gy (1.8 Gy × 28 f).Results The conformity index (CI) of the 3D-CRT + IMRT group was (0.61 ± 0.03),not different from that of the IMRT [ (0.62 ±0.03),q =2.16,P ＞0.05],and the CI levels of these 2 groups were both higher than that of the 3D-CRT + E group [ (0.44 ± 0.02 ),q =20.50,22.66,P ＜0.01 ].The heterogeneity index (HI) of the 3D-CRT + IMRT group was ( 1.17 ±0.02),not different from that of the IMRT [ (1.15 ±0.02),q =1.66,P ＞0.05],and the HI levels of these 2 groups were both lower than that of the 3D-CRT + E group[ ( 1.24 ±0.04),q =3.91,5.58,P ＜0.01 ].The levels of V5 and V10 of the ipsilateral lungs of the 3D-CRT + E group(48.70％ ±3.24％,38％.56％ ±3.70％ ) and 3D-CRT + IMRT group (49.12％ ±3.03％,38.38％ ± 3.56％ ) were all significantly lower than those of the IMRTgroup [(77.18％ ±8.01％,53.07％ ±6.85％),V5,q =20.35,20.05,P＜0.01; V10,q=12.10,12.24,P ＜0.01 ] and there were not significant differences in the V5 and V10 levels between the 3D-CRT + E and 3D-CRT + IMRT groups ( q =0.30,0.14,P ＞ 0.05 ).The levels of V20 of the ipsilateral lungs of the 3D-CRT + IMRT group (26.57％ ±2.51％ )and IMRT group (25.22％ ±2.77％) were all significantly lower that those of the 3D-CRT + E group [ (31.79％ ± 3.00％ ),q =5.27,8.21,P ＜ 0.01 ]and there were not significant differences in the V20 level between the 3D-CRT + IMRT and IMRT groups (q=2.76,P ＞ 0.05 ).There were not significant differences in the V45 levels among these 3 groups (F =0.69,P ＞ 0.05).Conclusions The 3D-CRT + IMRT technique in PMRT effectively reduces the radiated dose on the ipsilateral lung.

Objective To explore the distribution of prenatal indications , clinical features and pregnant outcomes of chromosomal unbalanced reciprocal translocations atthe second trimester. Methods The data on 35 fetuses with unbalanced reciprocal translocations between May 2011 and March 2016 were retrospectively analyzed and reviewed. Results Of 35 fetuses with unbalanced translocations , 29 (82.86%) showed ultrasound abnormalities,and 6 (17.14%) had no significant clinical features. 8 were de novo, and the other 27 were parental inherited. All the 35 women had to terminate the pregnancy. Conclusions Ultrasound abnormalities are associated with chromosomal unbalanced reciprocal translocations at the second trimester , and most unbalanced translocations fetuses origin from parental carrier of balanced translocations.

As a common type of fracture in cervical, atlas fracture is frequently unstable due to its special anatomical structure. In a previous treatment, external fixation was likely to bring low bony union rate and long-term neck pain, while occipito-cervical fusion and atlantoaxial fusion sacrifice range of motion in cervical spine. Reduction and single section fixation of atlas by anterior lateral mass screws through the transoral approach were reported by some scholars, and the retrospective study demonstrated the high healing rate, reservation of cervical ROM and less bleeding. But it also has high risks of cervical spinal cord and vertebral artery damage, as well as the post-operation infection. Moreover, the indication and fixation strength require further evidences. As a result, this surgical option provides a new way for spinal surgeons to deal with unstable atlas fractures.

The vitamin K epoxide reductase complex subunit 1 (VKORC1), the rate-limiting enzyme for vitamin K recycling, is significantly down-regulated in the kidneys of urolithiasis patients. This study searched for direct evidence to define the inhibitory activity of VKORC1 against calcium oxalate (CaOx) crystal formation. In the experiment of VKORC1 overexpression, HK-2 cells were transfected with the pFLAG-CMV-7.1-VKORC1 plasmid as a pFLAG-CMV-7.1-VKORC1 transfection group or the pFLAG-CMV-7.1 plasmid as a pFLAG-CMV-7.1 control group. In the experiment of VKORC1 knockdown, HK-2 cells were transfected with the PGPU6/GFP/Neo-VKORC1shRNA-2 as a PGPU6/GFP/Neo-VKORC1shRNA-2 transfection group or the PGPU6/GFP/Neo-shRNA-NC plasmid as a PGPU6/GFP/Neo-shRNA-NC control group. The expression of VKORC1 in HK-2 cells was detected by real-time quantitative PCR and Western blotting. The CaOx crystal formation was observed under the laser-scanning confocal microscope. It was found that the expression levels of VKORC1 mRNA and protein were significantly higher in the pFLAG-CMV-7.1-VKORC1 transfection group than in the pFLAG-CMV-7.1 control group (P<0.01). The number of CaOx crystals in HK-2 cells incubated in fluorescently labeled CaOx monohydrate (COM) crystal medium for 48 h was 14±4 per field (100×) in the pFLAG-CMV-7.1-VKORC1 transfection group and 26±5 per field (100×) in the pFLAG-CMV-7.1 control group respectively under the laser-scanning confocal microscope. The amount of CaOx crystal aggregation and formation in the pFLAG-CMV-7.1-VKORC1 transfection group was significantly reduced as compared with the pFLAG-CMV-7.1 control group (P<0.05). The expression levels of VKORC1 mRNA and protein were significantly lower in the PGPU6/GFP/Neo-VKORC1shRNA-2 transfection group than in the PGPU6/GFP/Neo-shRNA-NC control group (P<0.05). The number of CaOx crystals in HK-2 cells incubated in fluorescently labeled COM crystal medium was 65±11 per field (100×) in the PGPU6/GFP/Neo-VKORC1shRNA-2 transfection group and 24±6 per field (100×) in the PGPU6/GFP/Neo-shRNA-NC control group respectively under the laser-scanning confocal microscope. The amount of CaOx crystal aggregation and formation in the PGPU6/GFP/Neo-VKORC1shRNA-2 transfection group was significantly increased as compared with the PGPU6/GFP/Neo-shRNA-NC control group (P<0.05). These findings suggested that the VKORC1 protein could inhibit CaOx salt crystallization, adhesion and aggregation. This research would help us to understand the mechanisms involving the interaction between crystallization and epithelial cells and the formation of CaOx.

Objective To establish a patient-derived xenografts (PDX) mouse model of liver cancer (LC) and to explore its role in precision medicine.Methods PDX model was established by subcutaneous implantation of tumor tissues in NCG mice.The morphological structure of tumor tissue was exaimed using HE staining.Fifteen BALB/c nude mice were subcutaneously inoculated with tumor cell suspension from the PDX models.The xenograft mice were randomly divided into 5-fluorouracil (5-FU) group, sorafenib group and negative control group.The tumor volume and body weight of the tumor-bearing mice were measured regularly, the tumor inhibition rate was calculated and the curative effect was evaluated.Results The success rate was 33.3% (6/18) in the establishment of liver cancer PDX mouse model, and the model well retained the characteristics of the primary tumor.In one case of PDX mouse model, the tumor inhibition rates of 5-FU and sorafenib group were 63.7% and 29.6%, with a statistically significant differece between them (P< 0.05), and there was no significant difference between the sorafenib group and negative control group, consistent with clinical observation.Conclusions The PDX mouse model of liver cancer can maintain the histological structure of primary tumor, and can be applied to precision medicine for patients with liver cancer.

In this study, it is to compare the effectiveness of prevention against and treatment of doxorubicin (DOX) induced cardiotoxicity by dexrazoxane and schisandrin B (Sch B) in rats. Sprague-Dawley (SD) rats were randomly divided into the following 6 groups: normal saline group, DOX group, DOX+DEX group, DOX+Sch B (80 mg x kg(-1)) group, DOX+Sch B (40 mg x kg(-1)) group and DOX+Sch B (20 mg x kg(-1)) group. The results showed that Sch B could combat the increase of myocardial enzymes in peripheral blood, decrease of the enzyme activity of myocardial tissue antioxidant enzymes and disorders of systolic and diastolic function of heart in rats intravenously injected with doxorubicin (15 mg x kg(-1)). Sch B was better than DEX in protecting rat against DOX-induced the symptoms. Sch B could protect rat against DOX-induced acute cardiomyopathy and has clinical potential applications.
Animals ; Antibiotics, Antineoplastic ; adverse effects ; Antioxidants ; metabolism ; Cardiomyopathies ; chemically induced ; drug therapy ; Cardiotoxicity ; drug therapy ; Cyclooctanes ; therapeutic use ; Dexrazoxane ; therapeutic use ; Doxorubicin ; adverse effects ; Heart ; physiopathology ; Lignans ; therapeutic use ; Myocardium ; enzymology ; Polycyclic Compounds ; therapeutic use ; Rats ; Rats, Sprague-Dawley