Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 541
Filtrar
1.
Int Braz J Urol ; 46(2): 194-202, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32022507

RESUMO

OBJECTIVE: To evaluate usage of renal artery embolization (RAE) for renal injuries and discuss the indications for this treatment. MATERIALS AND METHODS: A retrospective study was performed evaluating the electronic medical records of all patients with renal trauma admitted to two major comprehensive hospitals in Shantou city from January 2006 to December 2015. RESULTS: There were 264 and 304 renal traumatic patients admitted to hospital A and B, respectively. LGRT was the reason for presentation in the majority of patients (522, 91.9%). A total of 534 (94.0%) patients were treated conservatively. RAE was performed in 9 patients from 2012 to 2015 at hospital A, including in 6 patients (6/9, 66.7%) with LGRT, and 3 patients (3/9, 33.3%) with HGRT. No patient underwent interventional therapy (RAE) at hospital B during the same period. No significant differences in the operative rate of hospital A were observed between the two time periods (2006-2011 and 2012-2015). The operative rate for LGRT between the two hospitals from 2006 to 2011 and 2012 to 2015 was not significantly different. Hospital A showed a significant decrease in the rate of conservative treatment for patients with LGRT. In the univariate and multivariate analyses, the AAST renal grade both were significantly associated with undergoing RAE. CONCLUSIONS: LGRT was present in the majority of patients, and most cases of renal trauma could be treated with conservative treatment. RAE was well utilized for the treatment of renal trauma. However, some patients with LGRT were treated with unnecessary interventional therapy.

2.
BMC Med Res Methodol ; 20(1): 18, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-32000690

RESUMO

BACKGROUND: With the increased empirical interest in the positive significance of improving nurses' sense of professional benefits, there is a requirement for measures of nurses' perceived professional benefit (NPPB). Our objective was to develop and psychometrically test a brief Nurses' Perceived Professional Benefit Questionnaire (NPPBQ). METHODS: After expert consultation and nurse interviews, a primary questionnaire was developed for an exploratory factor analysis (EFA). The seventeen items of the NPPBQ were used for verification of the theorized factor structure and content validity using a confirmatory factor analysis (CFA). The NPPBQ's concurrent validity was evaluated. Three samples of nurses were collected in Shanghai, Hangzhou and Nanjing between November 2017 and August 2018. RESULTS: The results of the EFA and CFA verified the five dimensions of nurses' occupational benefit discovery. The results demonstrated that the NPPBQ has adequate internal consistency and is fully consistent with the theorized factor structure. This 5-factor solution explained an adequate percentage of the total variance. The Cronbach's alpha of each dimension of the NPPBQ was good. The concurrent validity was significantly correlated with all aspects of the Maslach Burnout Inventory (MBI). CONCLUSION: The results suggest that the NPPBQ is a psychometrically sound measure for evaluating perceived professional benefits among a wide range of nurses.

3.
Hum Mol Genet ; 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31943063

RESUMO

Abnormal modification of 5-hydroxymethylcytosine (5hmC) is closely related to the occurrence of Alzheimer's disease (ad). However, the role of 5hmC and its writers, tet-eleven translocation (Tet) proteins, in regulating the pathogenesis of ad remains largely unknown. We detected a significant decrease in 5hmC and Tet2 levels in the hippocampus of aged 2 × Tg-ad mice that coincides with abundant amyloid-ß (Aß) plaque accumulation. On this basis, we examined the reduction of Tet2 expression in the hippocampus at early disease stages, which caused a decline of 5hmC levels and led young 2 × Tg-ad mice to present with advanced stages of ad-related pathological hallmarks, including Aß accumulation, GFAP-positive astrogliosis and Iba1-positive microglia overgrowth as well as the overproduction of pro-inflammatory factors. Additionally, the loss of Tet2 in the 2 × Tg-ad mice at 5 months of age accelerated hippocampal-dependent learning and memory impairments compared to age-matched control 2 × Tg-ad mice. In contrast, restoring Tet2 expression in adult neural stem cells (aNSCs) isolated from aged 2 × Tg-ad mice hippocampi increased 5hmC levels and increased their regenerative capacity, suggesting that Tet2 might be an exciting target for rejuvenating the brain during aging and ad. Further, hippocampal RNA-seq data revealed that the expression of altered genes identified in both Tet2 knockdown and control 2 × Tg-ad mice were significantly associated with inflammation response. Finally, we demonstrated Tet2-mediated 5hmC epigenetic modifications regulate ad pathology by interacting with HDAC1. These results suggest a combined approach for the regulation and treatment of ad-related memory impairment and cognitive symptoms by increasing Tet2 via HDAC1 suppression.

4.
Artigo em Inglês | MEDLINE | ID: mdl-31991589

RESUMO

Increase in physical activity (PA) might elevate risks for physical-activity-related injuries (PARIs). This study aimed to investigate the incidence rate and risk factors for PARIs among secondary school students in Hong Kong. All eligible students from three secondary schools were invited to participate in the study from November to December 2014. Information on PARI occurrences in the past 12 months, PA participation, and sociodemographics was collected. Multivariate and hierarchical logistic regression models were performed to estimate the risk of potential factors for PARIs. In total, 1916 students in forms 1-6 (aged 14.3 ± 1.7 years) completed valid questionnaires, with an overall yearly PARI incidence rate of 32.1% (boys: 34.3%; girls: 29.3%). There were sex differences in the risk factors identified, except that family size was associated with PARIs for all participants. Longer duration and higher intensity of PA increased the risk for PARI occurrences in both sexes. In conclusion, PARIs were prevalent among secondary school students in Hong Kong, and different sexes had different PARI incidence rates and were influenced by different risk factors. There is an urgent call for effective sex-specific interventions to prevent PARIs in this population.

5.
Phys Chem Chem Phys ; 22(4): 2054-2060, 2020 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-31904064

RESUMO

Polaron delocalization in layered transition-metal oxides can considerably impact their physical properties and technological applications. Herein, we present the evidence for the influence of polaron delocalization on the electrical transport of layered oxides LiNi0.4+xMn0.4-xCo0.2O2, an active cathode material, by controlling the chemical compositions. We find that the chemical composition at x = 0.3 exhibits a sharp increment in electronic conductivity of four orders of magnitude at room temperature with respect to that at x = 0. We attribute the increased electronic conductivity to a low hopping energy in addition to a weak electron-phonon interaction. The weakened electron-phonon interaction is the source of polaron delocalization in LiNi0.4+xMn0.4-xCo0.2O2, which became improved with increasing x due to the increased polaron sizes. Moreover, it is also suggested that the polaron delocalization may have a relationship with the strong Jahn-Teller distortion induced by Ni3+. The analysis of temperature dependent electrical transport within the framework of the small polaron hopping conduction model enables us to comprehend the influence of polaron delocalization on the electrical transport pertinent to the applications of layered oxide materials.

6.
Inj Prev ; 2020 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-31915269

RESUMO

OBJECTIVES: To examine the patterns and associated factors of road traffic injuries (RTIs) involving autonomous vehicles (AVs) and to discuss the public health implications and challenges of autonomous driving. METHODS: Data were extracted from the reports of traffic crashes involving AVs. All the reports were submitted to the California Department of Motor Vehicles by manufacturers with permission to operate AV test on public roads. Descriptive analysis and χ2 analysis or Fisher's exact test was conducted to describe the injury patterns and to examine the influencing factors of injury outcomes, respectively. Binary logistic regression using the Wald test was employed to calculate the OR, adjusted OR (AOR) and 95% CIs. A two-tailed probability (p<0.05) was adopted to indicate statistical significance. RESULTS: 133 reports documented 24 individuals injured in 19 crashes involving AVs, with the overestimated incidence rate of 18.05 per 100 crashes. 70.83% of the injured were AV occupants, replacing vulnerable road users as the leading victims. Head and neck were the most commonly injured locations. Driving in poor lighting was at greater risk of RTIs (AOR 6.37, 95% CI 1.47 to 27.54). Collisions with vulnerable road users or incidents happening during commute periods led to a greater number of victims (p<0.05). Autonomous mode cannot perform better than conventional mode in road traffic safety to date (p=0.468). CONCLUSIONS: Poor lighting improvement and the regulation of commute-period traffic and vulnerable road users should be strengthened for AV-related road safety. So far AVs have not demonstrated the potential to dramatically reduce RTIs. Cautious optimism about AVs is more advisable, and multifaceted efforts, including legislation, smarter roads, and knowledge dissemination campaigns, are fairly required to accelerate the development and acceptance.

7.
Antimicrob Agents Chemother ; 64(2)2020 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-31791946

RESUMO

In the past decades, the incidence of cryptococcosis has increased dramatically, which poses a new threat to human health. However, only a few drugs are available for the treatment of cryptococcosis. Here, we described a leading compound, NT-a9, an analogue of isavuconazole, that showed strong antifungal activities in vitro and in vivo NT-a9 showed a wide range of activities against several pathogenic fungi in vitro, including Cryptococcus neoformans, Cryptococcus gattii, Candida albicans, Candida krusei, Candida tropicalis, Candida glabrata, and Candida parapsilosis, with MICs ranging from 0.002 to 1 µg/ml. In particular, NT-a9 exhibited excellent efficacy against C. neoformans, with a MIC as low as 0.002 µg/ml. NT-a9 treatment resulted in changes in the sterol contents in C. neoformans, similarly to fluconazole. In addition, NT-a9 possessed relatively low cytotoxicity and a high selectivity index. The in vivo efficacy of NT-a9 was assessed using a murine disseminated-cryptococcosis model. Mice were infected intravenously with 1.8 × 106 CFU of C. neoformans strain H99. In the survival study, NT-a9 significantly prolonged the survival times of mice compared with the survival times of the control group or the isavuconazole-, fluconazole-, or amphotericin B-treated groups. Of note, 4 and 8 mg/kg of body weight of NT-a9 rescued all the mice, with a survival rate of 100%. In the fungal-burden study, NT-a9 also significantly reduced the fungal burdens in brains and lungs, while fluconazole and amphotericin B only reduced the fungal burden in lungs. Taken together, these data suggested that NT-a9 is a promising antifungal candidate for the treatment of cryptococcosis infection.

8.
Environ Pollut ; 257: 113641, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31767230

RESUMO

Cadmium, Cu, Pb and Zn concentrations and distribution in soil, wheat, and the potential for human heavy metal accumulation near a Pb smelting affected area were investigated. Farm land soil, wheat grain and scalp hair samples were collected from three villages (named QD, GF and BS) with increasing distance from a large Pb smelter in China. Soil Cd and Pb concentrations exceeded national standards 46-100% of the time, depending on location. Soil and wheat grain Cd, Cu, Pb and Zn concentrations increased as distance to the smelter decreased. Similarly, greater Cd, Cu and Pb concentrations were present in human scalp hair for those residents living closest to the smelter. Decreasing trends existed for hair-to-wheat grain ratios for Cd and Pb as distance to the smelter increased. Results suggest that as distance to the smelter decreases, human heavy metal absorption via the consumption of metal-contaminated food products (e.g., wheat) increases.

9.
Cancer Biol Ther ; 21(2): 178-188, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31663424

RESUMO

Tumor-associated macrophages (TAMs), which generally exhibit an M2-like phenotype, play a critical role in tumor development. Triptolide exerts a unique bioactive spectrum of anticancer activities. The aim of this study was to determine whether triptolide has any effect on the activation of TAMs and the production of tumor-promoting mediators. ICR-1 mice with azoxymethane/dextran sulfate sodium (AOM/DSS)-induced colon tumors and BALB/c mice co-inoculated with 4T1 cells and M2-polarized RAW264.7 cells were used to examine whether the inhibitory effect of triptolide on tumor progression was mediated by the targeting of TAMs. Real-time PCR, Western blot, immunofluorescence staining, and flow cytometry assays were performed to determine the expression of cell surface markers and cytokine production. The results showed that triptolide inhibited macrophage differentiation toward the M2 phenotype and abolished M2 macrophage-mediated tumor progression. Furthermore, triptolide inhibited the expression of M2 markers, such as CD206, Arginase 1, and CD204, and inhibited the secretion of anti-inflammatory cytokines. Thus our study indicated that triptolide selectively inhibited the functions of M2-polarized macrophages and TAMs, and this inhibitory effect of triptolide on TAM viability, differentiation, and cytokine production might elucidate the major mechanisms underlying its antitumor activity. Our findings provide important information for the potential clinical application of triptolide in cancer therapy.

10.
Biomater Sci ; 8(1): 379-390, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31728481

RESUMO

Melanin nanoparticles are of great importance in biomedicine. They have excellent affinity for metallic cations, especially paramagnetic ions, which has sparked interest in their application in the development of magnetic resonance imaging (MRI) contrast agents. In this work, we prepared ultrasmall water-soluble melanin nanoparticles, and investigated the binding properties of melanin toward different metal cations (Gd3+, Mn2+, Fe3+ and Cu2+), and compared their physicochemical properties and the MRI contrast enhancement ability in various metal chelated forms (MNP-PEG-M) in vitro and in vivo. We show that the saturation binding numbers of Gd3+, Mn2+, Fe3+ and Cu2+ per MNP-PEG were 49, 59, 69 and 62, respectively. MNP-PEG-Gd, MNP-PEG-Mn, MNP-PEG-Fe and MNP-PEG-Cu exhibited the maximum r1 relaxivities at the loading mass ratios of Gd3+ : MNP = 1 : 1, Mn2+ : MNP = 0.5 : 1, Fe3+ : MNP = 0.1 : 1 and Cu2+ : MNP = 0.1 : 1, corresponding to 49, 57, 54 and 51 chelated metals per MNP-PEG, respectively. The maximal per metal ion r1 relaxivity values were 61.9, 48.7, 11.1 and 9.7 mM-1 s-1 for MNP-PEG-Gd, MNP-PEG-Mn, MNP-PEG-Fe and MNP-PEG-Cu at 1.5 T, respectively. MNP-PEG-Gd and MNP-PEG-Fe presented larger sizes (6.9 nm and 5.8 nm) than MNP-PEG-Mn and MNP-PEG-Cu (3.4 nm and 3.7 nm), all featuring excellent solubility, high stability and ultrasmall size. A significant in vivo MRI signal enhancement in tissues was observed for all MNP-PEG-M after intravenous injection in mice, and these nanoparticles were excreted through renal and hepatobiliary pathways. In agreement with their r1 relaxivity values, MNP-PEG-Gd and MNP-PEG-Mn showed a significantly greater in vivo tissue maximum enhancement than MNP-PEG-Fe and MNP-PEG-Cu. This study could yield valuable insight into the development of a new class of MRI contrast agents.

11.
Psychother Psychosom ; 89(1): 38-47, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31846980

RESUMO

BACKGROUND: Not all adults with chronic insomnia respond to the recommended therapeutic options of cognitive behavioral therapy and approved hypnotic drugs. Transcranial alternating current stimulation (tACS) may offer a novel potential treatment modality for insomnia. OBJECTIVES: This study aimed to examine the efficacy and safety of tACS for treating adult patients with chronic insomnia. METHODS: Sixty-two participants with chronic primary insomnia received 20 daily 40-min, 77.5-Hz, 15-mA sessions of active or sham tACS targeting the forehead and both mastoid areas in the laboratory on weekdays for 4 consecutive weeks, followed by a 4-week follow-up period. The primary outcome was response rate measured by the Pittsburgh Sleep Quality Index (PSQI) at week 8. Secondary outcomes were remission rate, insomnia severity, sleep onset latency (SOL), total sleep time (TST), sleep efficiency, sleep quality, daily disturbances, and adverse events at the end of the 4-week intervention and at the 4-week follow-up. RESULTS: Of 62 randomized patients, 60 completed the trial. During the 4-week intervention, 1 subject per group withdrew due to loss of interest and time restriction, respectively. Based on PSQI, at 4-week follow-up, the active group had a higher response rate compared to the sham group (53.4% [16/30] vs. 16.7% [5/30], p = 0.009), but remission rates were not different between groups. At the end of the 4-week intervention, the active group had higher response and remission rates than the sham group (p < 0.001 and p = 0.026, respectively). During the trial, compared with the sham group, the active group showed a statistically significant decrease in PSQI total score, a shortened SOL, an increased TST, improved sleep efficiency, and improved sleep quality (p < 0.05 or p < 0.001). Post hoc analysis revealed that, in comparison with the sham group, the active group had improved symptoms, except for daily disturbances, at the end of the 4-week intervention, and significant improvements in all symptoms at the 4-week follow-up. No adverse events or serious adverse responses occurred during the study. CONCLUSION: The findings show that the tACS applied in the present study has potential as an effective and safe intervention for chronic insomnia within 8 weeks.

12.
Brain Stimul ; 13(1): 109-116, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31606448

RESUMO

BACKGROUND: Transcranial direct current stimulation (tDCS) has been explored in epilepsy with limited samples, varied parameters, and inconclusive results. We aimed to study the efficacy of tDCS for patients with refractory focal epilepsy. METHOD: We conducted a randomized, double-blind, sham-controlled, and three-arm (Group 1 (sham), Group 2 (20-min), and Group 3 (2 × 20-min)) tDCS parallel multicenter study. The primary outcome measurement was seizure frequencies (SFs). The study consisted of 28-days baseline, 14-days treatment, and 56-days follow-up. The cathode was placed over the epileptogenic focus, and the current intensity was 2 mA. The generalized estimating equations model, one-way analysis of variance, chi-square and Kruskal-Wallis test were used for analysis. RESULTS: Of the 82 enrolled patients, 70 patients were included for final analysis (Group 1, n = 21; Group 2, n = 24; and Group 3, n = 25). There was a significant reduction in SFs for both active tDCS groups compared with the sham group. Patients in Group 2 showed a significantly 50.73-21.91% greater reduction in SFs that lasted for 4 weeks (p = 0.008-0.060). Patients in Group 3 showed a significantly 63.19-49.79% greater reduction in SFs compared with the sham group that lasted for 5 weeks (p = 0.011-0.045). Patients in Group 3 had a 64.98-66.32% greater reduction in SFs at W9-W10, when compared with Group 2 (p = 0.021-0.022). CONCLUSION: Fourteen consecutive days tDCS significantly decreased SFs in patients with refractory focal epilepsy, with 2 × 20-min daily stimulation protocol being superior to 20-min daily stimulation protocol.

13.
J Mech Behav Biomed Mater ; 103: 103515, 2019 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-31790850

RESUMO

Polymerization shrinkage and mechanical properties affect the service life of dental restorative composites. Polyhedral oligomeric silsesquioxanes (POSS) can be an efficient strategy to improve the shrinkage properties and mechanical properties simultaneously. In this work, epoxycyclohexyl POSS (E-POSS) was used to modify the Bis-GMA/TEGDMA dental resins. E-POSS were introduced into the acrylic resin system via ring-opening reaction, and a cationic/free radical hybrid system was obtained. Double bond conversion, glass transition temperature, heterogeneity, crosslink density of dental resins and volumetric shrinkage, water sorption/solubility, flexural strength/modulus of dental composites were investigated. As the introduction of E-POSS caused higher double bond conversion and lower crosslink density, the polymerization shrinkage was significantly reduced to 2.91% (p < 0.05) and the flexural strength increased to 117.19 MPa (p < 0.05) compared to the control sample (5.06%, 99.16 MPa, p<0.05). Lower water sorption and solubility were also observed in composites contained E-POSS (p < 0.05).

14.
Chem Sci ; 10(36): 8323-8330, 2019 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-31803409

RESUMO

Symbiotic hetero-nanocomposites prevail in many classes of minerals, functional substances and/or devices. However, design and development of a symbiotic hetero-nanocomposite that contains unachievable phases remain a significant challenge owing to the tedious formation conditions and the need for precise control over atomic nucleation in synthetic chemistry. Herein, we report a solution chemistry approach for a symbiotic hetero-nanocomposite that contains an unprecedented CaCl2-type titania phase inter-grown with rutile TiO2. CaCl2 structured TiO2, usually occurring when bulk rutile-TiO2 is compressed at an extreme pressure of several GPa, is identified to be a distorted structure with a tilt of adjacent ribbons of the c-axis of rutile. The structural specificity of the symbiotic CaCl2/rutile TiO2 hetero-nanocomposite was confirmed by Rietveld refinement, HRTEM, EXAFS, and Raman spectra, and the formation region (TiCl4 concentration vs. reaction temperature) was obtained by mapping the phase diagram. Due to the symbiotic relationship, this CaCl2-type TiO2 maintained a high stability via tight connection by edge dislocations with rutile TiO2, thus forming a CaCl2/rutile TiO2 heterojunction with a higher reduction capacity and enhanced charge separation efficiency. These merits endow symbiotic CaCl2/rutile TiO2 with a water splitting activity far superior to that of the commercial benchmark photocatalyst, P25 under simulated sunlight without the assistance of a cocatalyst. Our findings reported here may offer several useful understandings of the mechanical intergrowth process in functional symbiotic hetero-nanocomposites for super interfacial charge separation, where interfacial dislocation appears to be a universal cause.

15.
Wei Sheng Yan Jiu ; 48(6): 988-992, 2019 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-31875827

RESUMO

OBJECTIVE: To establish a method for simultaneous determination of L-carnitine, choline, taurin in infant by ultrafiltration tube cleaning and ultraperformance liquid chromatography-tandem mass spectrometry(UPLC-MS/MS). METHODS: The sample was dissolved in water and acid hydrolyzed, then adjusted pH with a sodium hydroxide solution. After ultrafiltration tube cleaning and centrifugation, the sample solution was separated on an amide column ACQUITY UPLC BEH Amide(2. 1 mm × 100 mm, 1. 7 µm) and detected by MS/MS under multiple reaction monitoring(MRM) mode. The quantification was performed by the internal standard calibration method. RESULTS: The linear ranges were 1. 00-500 µg/L for L-carnitine and choline, 10-1000 µg/L for taurine with correlation coefficients of 0. 999. The mean recoveries were 89. 7%-107. 4% with relative standard deviations(RSD, n = 6) were2. 6%-8. 1%. The detection limits of the method were 0. 812 mg/kg for choline, 0. 623 mg/kg for L-carnitine and 9. 34 mg/kg for taurine, respectively. CONCLUSION: This method is simple, accurate, reproducible and sensitivity.


Assuntos
Espectrometria de Massas em Tandem , Animais , Carnitina , Colina , Cromatografia Líquida de Alta Pressão , Cromatografia Líquida , Fórmulas Infantis , Leite , Taurina , Ultrafiltração
16.
J Matern Fetal Neonatal Med ; : 1-6, 2019 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842640

RESUMO

Objective: A risk prediction model of cerebral palsy (CP) was established by a decision tree model to predict the individual risk of CP.Methods: A hospital-based case-control study was conducted with 109 cases of CP and 327 controls without CP. The cases and the controls were obtained from Hunan Children's Hospital. A questionnaire was administered to collect the variables relevant to CP by face to face interviews. Chi-square test was used to identify the factors associated with CP, and a decision tree model was used to construct the prediction model.Results: Univariate analysis showed that there were significant differences between cases group and controls group on maternal age, weight gain during pregnancy, medical treatment during pregnancy, preterm birth, low birth weight and birth asphyxia (all p-values <.05). Three factors, including preterm birth, birth asphyxia, and maternal age >35 years old, entered the decision tree model. The area under the receiver operating characteristic curve (AUC) was 0.722 (95%CI: 0.659-0.784, p < .001).Conclusion: The decision tree prediction model can be used for predicting the individual risk of CP. Further large-scale, population-based cerebral palsy studies are needed to improve the model.

17.
BMC Genomics ; 20(Suppl 13): 928, 2019 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-31881833

RESUMO

BACKGROUND: Identification of protein-protein interactions (PPIs) is crucial for understanding biological processes and investigating the cellular functions of genes. Self-interacting proteins (SIPs) are those in which more than two identical proteins can interact with each other and they are the specific type of PPIs. More and more researchers draw attention to the SIPs detection, and several prediction model have been proposed, but there are still some problems. Hence, there is an urgent need to explore a efficient computational model for SIPs prediction. RESULTS: In this study, we developed an effective model to predict SIPs, called RP-FIRF, which merges the Random Projection (RP) classifier and Finite Impulse Response Filter (FIRF) together. More specifically, each protein sequence was firstly transformed into the Position Specific Scoring Matrix (PSSM) by exploiting Position Specific Iterated BLAST (PSI-BLAST). Then, to effectively extract the discriminary SIPs feature to improve the performance of SIPs prediction, a FIRF method was used on PSSM. The R'classifier was proposed to execute the classification and predict novel SIPs. We evaluated the performance of the proposed RP-FIRF model and compared it with the state-of-the-art support vector machine (SVM) on human and yeast datasets, respectively. The proposed model can achieve high average accuracies of 97.89 and 97.35% using five-fold cross-validation. To further evaluate the high performance of the proposed method, we also compared it with other six exiting methods, the experimental results demonstrated that the capacity of our model surpass that of the other previous approaches. CONCLUSION: Experimental results show that self-interacting proteins are accurately well-predicted by the proposed model on human and yeast datasets, respectively. It fully show that the proposed model can predict the SIPs effectively and sufficiently. Thus, RP-FIRF model is an automatic decision support method which should provide useful insights into the recognition of SIPs.

18.
Front Genet ; 10: 1088, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31749841

RESUMO

Background: Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. The combination of CM-AVM and Alagille syndrome in a patient presenting serious vascular malformations in the liver and heart has never been reported. Here, we report the case of a 20-month-old infant presenting these two diseases. Case presentation: The patient manifested port-wine stains, congenital heart disease, cholestasis with abnormal morphology, and vascular anomalies. Color Doppler (B-mode) ultrasonography, and radiological imaging including computed tomography (CT) with enhanced three-dimensional (3D) reconstruction and angiography, revealed a type II Abernethy malformation in the hepatic portal vein. The left hepatic lobe was enlarged showing dilation of the portal vein and the left artery. Whole exome sequencing (WES) identified a paternally inherited RASA1 heterozygous pathogenic variant p.(Ser219Ter) causing CM-AVM and a de novo NOTCH2 heterozygous variant p.(Met2042Thr) associated with Alagille syndrome. Conclusion: This is the first case of combined CM-AVM and Alagille syndrome presenting serious liver and heart abnormalities diagnosed using imaging technology and WES. The patient harbored variants in two genes: RASA1 and NOTCH2, which rarely contribute to aberrant vascular development. This report highlights the value of accurately diagnosing similar diseases and guiding therapy using genetic testing combined with careful clinical examinations.

19.
BMC Med Genet ; 20(1): 187, 2019 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-31752730

RESUMO

BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring-patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. CONCLUSIONS: This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

20.
J Org Chem ; 84(23): 15557-15566, 2019 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-31682117

RESUMO

An efficient and practical procedure for one-pot assembly of furylated 2-alkenylphenols has been achieved via the Cp*CyRh-catalyzed regioselective redox-neutral C-H activation/5-exo-dig cyclization cascade using N-phenoxyacetamides and enynones as the viable substrates. The synthetic application of such a protocol has also been demonstrated to highlight the versatility of this transformation.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA