Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 3.660
Filtrar
1.
J Hazard Mater ; 383: 121210, 2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-31541957

RESUMO

In-situ modification is studied in this work on LaCo1-xPtxO3 for soot oxidation. A series of perovskite catalysts LaCo1-xPtxO3 (by sol-gel method) are modified with 30% H2O2. XRD, TEM, SEM, BET, XPS, Raman, in-situ DRIFTS, H2-TPR and TGA are used to investigate physicochemical properties of catalysts. TGA results show that all doped catalysts have a lower temperature of soot conversion, especially LaCo0.94Pt0.06O3 (T50 = 437 °C). The T50 of the catalyst with modification by H2O2 solution decreases at least 20 °C compared with the doped catalysts. A highly symmetrical structure and an obvious amorphous layer about 3-5 nm are observed in the modified catalysts. According to the XPS study, the symmetrical structure benefits to the movement of oxygen vacancy thus catalyst captures more adsorbed oxygen (about 95%). And the amorphous surface could adsorb more oxygen species. In addition, all catalysts show excellent aging resistance performance. The reaction mechanism of catalyst for soot oxidation is presented in the end.

2.
Chemosphere ; 240: 124878, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31563719

RESUMO

Dihydroxylated polybrominated diphenyl ethers (diOH-PBDEs) can be natural products of marine organisms or the metabolites of PBDEs. The optimal determination method and concentration of diOH-PBDEs in seafood are unknown due to a lack of commercially available standards. In the present study, diOH-PBDEs were synthesized, and an efficient measurement method for OH-PBDEs and diOH-PBDEs in sea fish muscle samples, including extraction, clean-up and gas chromatography-tandem mass spectrometry (GC-MS/MS) analysis, was established. Pressurized liquid extraction (PLE) followed by partitioning with a KOH solution and florisil cartridge clean-up proved to be a reliable and robust method for detecting all OH-PBDEs/diOH-PBDEs. GC-MS/MS with an electron ionization (EI) source analysis was a sensitive analytical instrument for OH-PBDEs/diOH-PBDEs. The recovery using this method ranged from 19% to 101%, 28%-88% and 42%-90% for 10 ng, 20 ng and 40 ng spiking levels, respectively. The equipment detection limits (EDLs) were in the range of 0.31-2.78 pg/µL, and the limits of detection (LOD) for the method were in the range of 5.07-38.74 pg/g wet weight. Concentrations of diOH-PBDEs in the marine fish muscle samples were in the range of 32.43-1528.63 pg/g wet weight. Similar compositions of OH-PBDEs/diOH-PBDEs were found within the same family of marine fish.

3.
Sensors (Basel) ; 19(21)2019 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-31671701

RESUMO

For the laser tracking and positioning system of a moving target using a four-quadrant detector, the accuracy of laser spot position detection has a serious impact on the tracking performance of the system. For moving target tracking, the traditional spot position detection method of a four-quadrant detector cannot give better consideration to both detection accuracy and operation speed. In view of this, an improved method based on piecewise low-order polynomial least squares fitting and a Kalman filter is proposed. Firstly, the tracking and positioning mathematical model of the system is created, and the experimental device is established. Then, the shortcomings of traditional methods are analyzed, and the improved method and the real-time tracking and positioning algorithm of the system are studied. Finally, through the experiment, the system operation effects are compared and analyzed before and after the improvement. The experimental results of system dynamic tracking show that, the least squares fitting of the experimental data using a 5-segment and quadratic polynomial can achieve better results. By using the improved method, the maximum tracking distance of a moving object is increased from 12 m to more than 30 m. At a distance of 7.5 m, the maximum tracking speed can reach 2.11 m/s, and the root mean square error (RMSE) of the position is less than 4.59 mm. At 15.5 m, the maximum tracking speed is 2.04 m/s and the RMSE is less than 5.42 mm. Additionally, at 23.5 m, it is 1.13 m/s and 5.71 mm.

4.
Cancer Med ; 2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31670906

RESUMO

BACKGROUND: Cervical cancer is one of the most common causes of cancer-associated mortality among affected women in the world. At present, treatment with weekly cisplatin plus ionizing radiation (IR) therapy is the standard regimen for cervical cancer, especially for locally advanced cervical cancer. The purpose of this study is to determine whether FEN1 inhibitors could enhance the therapeutic effect of IR therapy. METHODS: Western blot was applied to determine the expression of FEN1- and apoptosis-related proteins. Cell growth inhibition assay and colony formation assay were used to determine the effects of FEN1 inhibitor and IR exposure for Hela cells in vitro. CRISPR technology was used to knockdown FEN1 expression level of 293T cells, and tumor xenograft in nude mice was employed to determine the effects of FEN1 inhibitor and IR exposure on tumor growth in vivo. RESULTS: Our data revealed that FEN1 is overexpressed in HeLa cell and can be upregulated further by IR. We also demonstrated that FEN1 inhibitor enhances IR sensitivity of cervical cancer in vitro and in vivo. CONCLUSION: FEN1 inhibitor SC13 could sensitize radiotherapy of cervical cancer cell.

5.
Mol Ther Nucleic Acids ; 18: 554-566, 2019 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-31675668

RESUMO

Previously, our transcriptome sequencing revealed that lnc9141 was differentially expressed in muscles of fetal bovine, calf, and adult bovine, which is considered to provide the basis for raising the muscle mass. In this study, we identified lnc9141 characters. lnc9141 has different transcription start sites and 3' alternative splicing sites of exon 1, producing lnc9141-a and lnc9141-b transcripts that were highly expressed in the heart and lung. Moreover, neither lnc9141-a nor lnc9141-b had the ability to encode proteins. The functions of lnc9141-a and lnc9141-b were explored by cell cycle, 5-ethynyl-2'-deoxyuridine (EdU), and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. The results showed that lnc9141-a or lnc9141-b overexpression decreased the number of myoblasts in the S phase and increased the proportion of cells in the G0/G1 phase. Furthermore, overexpressing lnc9141-a and lnc9141-b respectively downregulated the expression of CyclinD1. However, lnc9141-a or lnc9141-b interference was found to increase the number of S-phase myoblasts, and upregulate Cyclin D1 and Cyclin E expression. Through Annexin V-FITC/propidium iodide (PI) double staining and the expression of apoptosis marker genes (Bax, Bcl2, and Caspase-3), it was found that lnc9141-b could regulate the expression of Bax gene. Meantime, high expression of lnc9141-b could decrease MyHC expression. In addition, the intergenic region between lnc9141 and IRX5 was 2.3 kb, with a head-to-head orientation. The study also revealed the core regions of the lnc9141 and IRX5 promoter. Our study demonstrated that both lnc9141-a and -b expression inhibited bovine myoblast proliferation. However, lnc9141-b regulated Bax and MyHC expression. The regulatory mechanism of lnc9141-a and lnc9141-b needs to be further explored.

6.
Eur J Radiol ; 121: 108713, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31683252

RESUMO

PURPOSE: This study sought to establish a robust and fully automated Type B aortic dissection (TBAD) segmentation method by leveraging the emerging deep learning techniques. METHODS: Preoperative CTA images of 276 patients with TBAD were retrospectively collected from January 2011 to December 2018. Using a reproducible manual segmentation protocol of three labels (whole aorta, true lumen (TL), and false lumen (FL)), a ground truth database (n = 276) was established and randomly divided into training and testing sets in a rough 8:1 ratio. Three convolutional neural network (CNN) models were developed on the training set (n = 246): single one-task (CNN1), single multi-task (CNN2), and serial multi-task (CNN3) models. Performance was evaluated using the Dice coefficient score (DCS) and lumen volume accuracy on the testing set (n = 30). Pearson correlation, Intra-class correlation coefficients and Bland-Altman plots were used to evaluate the inter-observer measurement agreement. RESULTS: CNN3 performed the best, with mean DCSs of 0.93 ±â€¯0.01, 0.93 ±â€¯0.01 and 0.91 ±â€¯0.02 for the whole aorta, TL, and FL, respectively (p < 0.05). Each label volume from CNN3 showed excellent agreement with the ground truth, with mean volume differences of -31.05 (-82.76 to 20.65) ml, 4.79 (-11.04 to 20.63) ml, and 8.67(-11.40 to 28.74) ml for the whole aorta, TL, and FL, respectively. The segmentation speed of CNN3 was 0.038 ±â€¯0.006 s/image. CONCLUSION: Deep learning-based model provides a promising approach for accurate and efficient segmentation of TBAD and makes it possible for automated measurements of TBAD anatomical features.

7.
Environ Int ; 134: 105293, 2019 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-31731001

RESUMO

Early-life exposure to toxicants could affect health outcomes in adulthood. We determined the effects of early-life exposure to the organophosphorus flame-retardant tris (1,3-dichloro-2-propyl) phosphate (TDCIPP) in adult zebrafish. Embryos were exposed to TDCIPP from early embryogenesis (2 h post-fertilization) to 10 days post-fertilization (dpf), and larvae were transferred to clean water until adulthood (150 dpf). TDCIPP showed accumulation in larvae, but returned to control levels after 7 days of depuration. In adult zebrafish exposed to TDCIPP in early life, vulnerability to anxiety-like behavior was observed in females but not males, suggesting gender-dependent neurotoxicity. Decreased dopamine (DA) concentration and down-regulation of dopaminergic signaling related genes were observed in the brains of adult females. Upregulation of DNA methylation transferases (dnmt1, dnmt3a, and dnmt3b) genes were observed in larvae and brains of adult females. Further, the promoter regions of the selected key genes (bdnf, drd4b, zc4h2 and th) showed increased DNA methylation status, accompanied by down-regulation of gene transcription in larvae and brains of adult females. Our results indicate that early-life exposure to TDCIPP could cause delayed neurotoxicity in adult zebrafish.

8.
J Mol Cell Cardiol ; 138: 34-48, 2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31733201

RESUMO

Homocysteine (Hcy) is an independent risk factor for atherosclerosis, which is characterized by lipid accumulation in the atherosclerotic plaque. Increasing evidence supports that as the main receptor of high-density lipoprotein, scavenger receptor class B member 1 (SCARB1) is protective against atherosclerosis. However, the underlying mechanism regarding it in Hcy-mediated atherosclerosis remains unclear. Here, we found the remarkable inhibition of SCARB1 expression in atherosclerotic plaque and Hcy-treated foam cells, whereas overexpression of SCARB1 can suppress lipid accumulation in foam cells following Hcy treatment. Analysis of SCARB1 promoter showed that no significant change of methylation level was observed both in vivo and in vitro under Hcy treatment. Moreover, it was found that the negative regulation of DNMT3b on SCARB1 was due to the decreased recruitment of SP1 to SCARB1 promoter. Thus, we concluded that inhibition of SCARB1 expression induced by DNMT3b at least partly accelerated Hcy-mediated atherosclerosis through promoting lipid accumulation in foam cells, which was attributed to the decreased binding of SP1 to SCARB1 promoter. In our point, these findings will provide novel insight into an epigenetic mechanism for atherosclerosis.

9.
Nanoscale ; 2019 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-31774083

RESUMO

Low solar light absorption and high electron-hole pair recombination are still the main challenges for solar energy conversion. Here, we design a plasmonic nanoparticle (NP)-film with a unique structure combining the advantages of a Au NP and film, which exhibits strong broadband absorption from the visible to near-infrared (NIR) wavelength range. In addition, the high density of sub-1 nm inter-particle gaps in the Au NP-film supports electromagnetic field enhancement of several orders of magnitude that greatly promotes the generation and separation of electron-hole pairs. Accordingly, the plasmonic NP-film-assisted photocatalyst (TiO2/90Au/TiO2) leads to an 88-fold increase in the photocurrent density at 0.75 V vs. RHE in 25% methanol solution under visible-NIR light irradiation (λ > 420 nm) compared to a TiO2 film, which is higher than those of the ever reported Au/TiO2 photocatalysts in the entire visible-NIR range. Our finding indicates a promising way to explore full solar spectrum photocatalysts, which can be easily extended to other energy conversion applications.

10.
Int J Cardiol ; 2019 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-31748182

RESUMO

BACKGROUND: Effectiveness and optimal timing of endovascular treatment for type B aortic dissection (AD) remain controversial. METHOD: An extensive search of literature (January 1999-December 2017) was conducted using PubMed, Cochrane Library and Science-Direct databases for studies on endovascular repair for acute/chronic type B AD; ≥10 patients; not reviews; and reporting predefined baseline data and ≥50% of predefined study outcomes, which were extracted and analysed according to Preferred Reporting Items for Systematic reviews and Meta-Analyses. Primary outcomes were in-hospital all-cause mortality and aorta-related mortality. RESULT: Based on 92 publications (5956 patients), pooled estimate for overall in-hospital mortality was 7.0% [95% CI, 6.2%-7.8%]. Major perioperative complications included stroke (4.2% [3.6%-4.9%]), spinal cord ischemia (3.3% [2.8%-3.9%]), retrograde type A AD (3.2% [2.7%-3.9%]), type I endoleak (4.9% [3.8%-6.2%]), visceral ischemia (3.1% [2.5%-3.8%]) and acute renal failure requiring haemodialysis (5.1% [4.3%-5.9%]). Mid-term mortality incidence was 8.9% [7.2%-10.9%], and secondary intervention rate was 12.5% [10.5%-15.0%] with 6.1% [5.3%-7.2%] conversion to open surgery. Institutions with ≥40 endovascular treatment caseload had significantly lower rates of in-hospital and aorta-related mortality, stroke, type I endoleak, renal failure and retrograde type A AD. Patients treated in the acute phase had significantly higher incidence of in-hospital or aorta-related mortality and renal failure. Patients with chronic dissection required significantly more often secondary intervention during follow-up. CONCLUSION: Endovascular stent-graft for type B AD therefore appeared feasible and safe with a low incidence of mortality and perioperative complications, particularly for delayed intervention and centres with ≥40 caseload. Standardized and long-term follow-up data are warranted.

11.
Artigo em Inglês | MEDLINE | ID: mdl-31749002

RESUMO

The differences in the mechanism of cadmium (Cd) accumulation in the grains of different wheat (Triticum aestivum L.) cultivars remain unclear. Thus, we conducted a hydroponic experiment in a greenhouse to compare root surface adsorption, root uptake, subcellular distribution, and chemical forms of Cd between low- and high-Cd-accumulating wheat cultivars at seedling stage, to improve our understanding of the differences between cultivars. The results showed that Cd adsorbed on the root surface was mainly in a complexed form, and the total amount of Cd on the Yaomai16 (YM, high-Cd-accumulating genotypes) root surface was higher (p < 0.05) than that on Xinmai9817 (XM, low-Cd-accumulating genotypes). A large amount of Cd ions adsorbed on root surface would cause plant damage and inhibit growth. Comparing the root-to-shoot translocation factors of Cd, the transfer coefficients of YM were 1.017, 1.446, 1.464, and 1.030 times higher than those of XM under 5, 10, 50, and 100 µmol L-1 Cd treatments, respectively. The subcellular distribution of Cd under Cd exposure is mainly in the cell wall and soluble fraction. The proportions of Cd in YM shoot soluble fraction were higher than those in XM, which was the main detoxification mechanism limiting the activity of Cd and may be responsible for low Cd accumulation in grains, while the effects of the chemical forms of Cd on migration and detoxification were not found to be related to Cd accumulation in the kernels.

12.
Food Funct ; 2019 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-31750489

RESUMO

Strawberries are vulnerable to physical injuries and microbial invasion. To explore if beneficial lactic acid bacteria can improve the shelf life and edible quality of postharvest strawberry fruits, the effects of Lactobacillus delbrueckii subsp. bulgaricus (ital.) F17 (F17) and Leuconostoc lactis (ital.) H52 (H52) inoculation on the strawberry microbial community structure and saleable characteristics were examined by bacterial 16S rRNA and fungal ITS sequencing techniques. Lactobacillus (ital.) F17 and Leuconostoc lactis (ital.) H52 isolated from the traditional fermented yak milk in the Qinghai-Tibetan Plateau were used as the potential probiotic inocula. Samples from treated strawberries stored at 25 °C for 0, 12, 24, 48, and 72 hours were analyzed for their pH, weight loss percentage, decay percentage, total soluble solid content (SSC) and microbial counts, and for microbiome community diversity and canonical correspondence analysis. The results showed that F17 and H52 did not only significantly reduce the weight loss and decay percentage of strawberry fruits, but also delayed the decrease of the total SSC and pH (P < 0.05). In addition, F17 and H52 significantly inhibited the growth and colonization of aerobic mesophilic bacteria, yeast, mold and coliform bacteria. In particular, by comparing the microbiota composition of the samples, F17 significantly inhibited Pantoea, Mycospherella, unclassified_Pleosporales, Aureobasidium and Phoma at the genus level, whereas H52 inhibited Bacillus, Streptophyta, Mycospherella, Aureobasidium and Phoma. Moreover, analysis of alpha and beta diversity revealed that F17 and H52 had a significantly greater inhibitory effect on bacterial species compared to fungi. The results of canonical correspondence analysis revealed that the total SSC and pH were positively correlated with bacteria, whereas the decay percentage, weight loss percentage and total SSC were positively associated with fungi. Additionally, Podosphaera, Hanseniaspora, Botrytis and unclassified_Pleosporales were positively correlated with strawberry fruit decay and weight loss percentage. As a general result, Lactobacillus F17 and Leuconostoc lactis H52 have the potential to promote biological preservation, which is economically important to reduce the loss due to strawberry spoilage.

13.
Artigo em Inglês | MEDLINE | ID: mdl-31753747

RESUMO

OBJECTIVES: Stroke volume variation (SVV) has been used to predict fluid responsiveness. The authors hypothesized the changes in SVV induced by passive leg raising (PLR) might be an indicator of fluid responsiveness in patients with protective ventilation after cardiac surgery. DESIGN: A prospective single-center observational study. SETTING: A single cardiac surgery intensive care unit at a tertiary hospital. PARTICIPANTS: A total of 123 patients undergoing cardiac surgery with hemodynamic instability. Tidal volume was set between 6 and 8 mL/kg of ideal body weight. INTERVENTIONS: PLR maneuver, fluid challenge. MEASUREMENTS AND MAIN RESULTS: SVV was continuously recorded using pulse contour analysis before and immediately after a PLR test and after fluid challenge (500 mL of colloid given over 30 min). Sixty-three (51.22%) patients responded to fluid challenge, in which PLR and fluid challenge significantly increased the SV and decreased the SVV. The decrease in SVV induced by PLR was correlated with the SV changes induced by fluid challenge. A 4% decrease in the SVV induced by PLR-discriminated responders to fluid challenge with an area under the curve of 0.90. The gray zone identified a range of SVV changes induced by PLR (between -3.94% and -2.91%) for which fluid responsiveness could not be predicted reliably. The gray zone included 15.45% of the patients. The SVV at baseline predicted fluid responsiveness with an area under the curve of 0.72. CONCLUSIONS: Changes in the SVV induced by PLR predicted fluid responsiveness in cardiac surgical patients with protective ventilation.

14.
Artigo em Inglês | MEDLINE | ID: mdl-31755198

RESUMO

Organic-inorganic hybrid cathode materials have advantages of both components. Herein, we report an attractive diphenyl trisulfide-selenium nanowire (DPTS-Se) hybrid cathode material for rechargeable lithium batteries. During discharge, three voltage plateaus associated with three lithiation processes are observed. During recharge, the combination of the radicals formed upon delithiation leads to several new phenyl sulfoselenide compounds which are confirmed by HPLC-QTof-MS. The formation of S-Se dynamic covalent bonds is further investigated computationally. Thus, the redox process of DPTS-Se is clearly revealed. The hybrid cathode exhibits superior cycling stability over pristine Se or DPTS as cathode alone. The first discharge shows a capacity of 96.5% of the theoretical specific capacity and the cell retains 69.2% of the initial capacity over 250 cycles. The hybrid cathode also shows a high Coulombic efficiency of over 99% after 250 cycles. This study demonstrates that the combination of organic polysulfide and selenium can not only improve the utilization of active materials but also enhance the cycling performance. Accordingly, such organic-inorganic hybrid material is a unique system for fundamental understanding and potential application in high-energy density batteries.

15.
Nano Lett ; 2019 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-31682447

RESUMO

Incorporating carbon nanodots (CDs) into mesoporous silica framework for extensive biomedicine, especially for the desirable cancer immunotherapy, is considered to be an unexplored challenge. Herein, a hydrogen bond/electrostatic-assisted co-assembly strategy was smartly exploited to uniformly incorporate polymer-coated CDs into ordered framework of mesoporous silica nanoparticles (CD@MSNs). The obtained CD@MSN was not only biodegradable via the framework-incorporated CD-induced swelling but also capable of gathering dispersive CDs with enhanced photothermal effect and elevated targeting accumulation, which therefore can achieve photothermal imaging-guided photothermal therapy (PTT) in vitro and in vivo. Interestingly, benefiting from the biodegraded debris, it was found that CD@MSN-mediated PTT can synergistically achieve immune-mediated inhibition of tumor metastasis via stimulating the proliferation and activation of natural killer cells and macrophages with simultaneously up-regulating the secretion of corresponding cytokines (IFN-γ and Granzyme B). This work proposed an unusual synthesis of biodegradable mesoporous silica and provided an innovative insight into the biodegradable nanoparticles-associated anticancer immunity.

16.
World J Surg Oncol ; 17(1): 194, 2019 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-31739788

RESUMO

BACKGROUND: Revised Tokuhashi score (RTS) is no longer accurate to predict the survival of patients with lung cancer metastases to the spine. This study is to identify additional prognostic factors in those patients, develop a modified prognostic score based on RTS, and verify the accuracy of the score in prediction. METHODS: Our study included patients with lung cancer metastases to the spine who underwent surgery for spine metastasis. Potential prognostic factors were analyzed. Points were allocated for prognostic factors obtained from survival analyses. A modified score was developed by including prognostic factors and their points to RTS. Accuracy of the modified score was evaluated by comparing the coincidence between predicted and observed survival. Kaplan-Meier analysis and Cox regression models were used. Predictive values of scores for 6-month survival were measured via receiver operating characteristic (ROC) curves. RESULTS: Targeted therapy and tumor markers were additional independent prognostic factors. In the modified score, 2 and 1 points were allocated to the new evaluation factors. The points for factors based on RTS remained the same, and two prognostic groups were redefined. For group A patients who were predicted to live for less than 6 months, conservative procedures would be recommended. For group B patients who were predicted to live for 6 months or more, palliative surgery would be recommended. When comparing the modified score to RTS, the area under the receiver operating characteristic curve (AUCROC) and accuracy of score were improved. CONCLUSIONS: The modified RTS has improved prognostic accuracy in patients with lung cancer metastases to the spine.

17.
Sheng Wu Gong Cheng Xue Bao ; 35(10): 1974-1985, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31668042

RESUMO

Industrial fermentation is the basic operation unit of industrial biotechnology in large-scale production. Mathematical simulation of microbial cells and their reactors will help deepen the understanding of microorganisms and fermentation processes, and will also provide solutions for the construction of new synthetic organisms. In this paper, the characteristics of industrial fermentation system, the development of mathematical simulation, the classification, characteristics and functions of mathematical models are described in depth, and the development trend of whole fermentation system simulation is prospected.


Assuntos
Biotecnologia , Fermentação , Microbiologia Industrial , Modelos Biológicos
18.
Hum Mutat ; 2019 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-31680349

RESUMO

Whole-exome sequencing (WES) is widely used to detect genetic mutations that cause Mendelian diseases, and has been successfully applied in combination with preimplantation genetic diagnosis (PGD) to avoid the transmission of genetic defects. We investigated 40 nonconsanguineous families with unexplained, recurrent fetal malformations (two or more malformed fetuses) from May 2016 to December 2018. Using Trio-WES, we identified 32 disease-associated variants in 40 families (80% positive rate), which were subsequently verified. Known Mendelian diseases were identified in 12 families (30%), highly suspected Mendelian diseases in 12 families (30%), variants with uncertain significance in 8 families (20%), and no noticeable variants for 8 families (20%). Further analysis showed variants in 22 genes may cause fetal malformations. Four gene variants were detected in fetuses for the first time, which expanded the spectrum of the disease phenotype. Two novel candidate genes may be related to fetal malformations. Of 26 couples receiving PGD on disease-associated genes, 3 healthy newborns were delivered, and 4 couples are undergoing pregnancies. We reported the fetal data and developed an optimized genetic testing strategy. Our finding strongly suggests the presence of single gene Mendelian disorders in 60% of those families, and PGD services for couples to have healthy babies.

19.
Brief Bioinform ; 2019 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-31711128

RESUMO

To understand tumor heterogeneity in cancer, personalized driver genes (PDGs) need to be identified for unraveling the genotype-phenotype associations corresponding to particular patients. However, most of the existing driver-focus methods mainly pay attention on the cohort information rather than on individual information. Recent developing computational approaches based on network control principles are opening a new way to discover driver genes in cancer, particularly at an individual level. To provide comprehensive perspectives of network control methods on this timely topic, we first considered the cancer progression as a network control problem, in which the expected PDGs are altered genes by oncogene activation signals that can change the individual molecular network from one health state to the other disease state. Then, we reviewed the network reconstruction methods on single samples and introduced novel network control methods on single-sample networks to identify PDGs in cancer. Particularly, we gave a performance assessment of the network structure control-based PDGs identification methods on multiple cancer datasets from TCGA, for which the data and evaluation package also are publicly available. Finally, we discussed future directions for the application of network control methods to identify PDGs in cancer and diverse biological processes.

20.
Artigo em Inglês | MEDLINE | ID: mdl-31712976

RESUMO

The long-term patency rate of saphenous vein (SV) grafts is poor compared to arterial grafts. To investigate the effects of surgical preparation (distention) of SV on hydrogen sulfide (H2S) released from the endothelium, human SV segments were harvested from 43 patients during coronary artery bypass surgery (CABG). Acetylcholine (ACh) induced relaxation that was inhibited by NG-nitro-L-arginine + indomethacin and cysteine aminotransferase inhibitor aminooxyacetic acid in the normal SV. In contrast, ACh did not evoke relaxation in the distended SV (DSV). The concentration of H2S quantified by methylene blue assay in DSV was significantly lower than that in control. Transmission electron microscope and immunohistochemistry studies showed that the preparation destroyed the endothelium, smooth muscle, organelle, and vasa vasorum. We conclude that surgical preparation injures the endothelium and smooth muscle of the SV grafts and reduces H2S release from SV. These effects may contribute to the poor long-term patency of the SV graft.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA