72 research outputs found
Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.
BACKGROUND: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a highly heterogeneous disease with divergent manifestations ranging from asymptomatic subclinical Cushing syndrome (CS) to overt Cushing syndrome with severe complications. ARMC5 mutations occur in 20 to 55% PBMAH patients usually with more severe phenotypes. Different ARMC5 mutations might be associated with diverse phenotypes of PBMAH.
CASE PRESENTATION: A 39-year-old man was admitted to our hospital with progressive weight gain and severe hypertension. He presented typical CS and its classical metabolic and bone complications like hypertension and osteoporosis. The laboratory results showed high levels of cortisol and low levels of ACTH. Low- and high-dosed dexamethasone suppression tests were negative. Contrast-enhanced computed tomography (CT) revealed multiple bilateral irregular macronodular adrenal masses. Adrenal venous sampling (AVS) confirmed that the right adrenal gland with larger nodules secreted more hormone that the left side did. Right adrenalectomy and subsequent contralateral subtotal resection were conducted. His blood pressure and CS symptoms as well as comorbidities including backache and muscle weakness improved. Whole exome sequencing identified one ARMC5 germline mutation (c.1855C \u3e T, p. R619*), five ARMC5 somatic mutations (four novel mutations) in his right and left adrenal nodules.
CONCLUSIONS: This PBMAH patient was identified with one ARMC5 germline mutation and five different somatic ARMC5 mutations (four novel mutations) in the different nodules of the bilateral adrenal masses. AVS combined with CT imagine could be helpful to determine the dominant side for adrenalectomy. Genetic testing is important for the diagnosis and management of the patient with PBMAH
PHF8-GLUL axis in lipid deposition and tumor growth of clear cell renal cell carcinoma.
For clear cell renal cell carcinoma (ccRCC), lipid deposition plays important roles in the development, metastasis, and drug resistance. However, the molecular mechanisms underlying lipid deposition in ccRCC remain largely unknown. By conducting an unbiased CRISPR-Cas9 screening, we identified the epigenetic regulator plant homeodomain finger protein 8 (PHF8) as an important regulator in ccRCC lipid deposition. Moreover, PHF8 is regulated by von Hippel-Lindau (VHL)/hypoxia-inducible factor (HIF) axis and essential for VHL deficiency-induced lipid deposition. PHF8 transcriptionally up-regulates glutamate-ammonia ligase (GLUL), which promotes the lipid deposition and ccRCC progression. Mechanistically, by forming a complex with c-MYC, PHF8 up-regulates TEA domain transcription factor 1 (TEAD1) in a histone demethylation-dependent manner. Subsequently, TEAD1 up-regulates GLUL transcriptionally. Pharmacological inhibition of GLUL by l-methionine sulfoximine not only repressed ccRCC lipid deposition and tumor growth but also enhanced the anticancer effects of everolimus. Thus, the PHF8-GLUL axis represents a potential therapeutic target for ccRCC treatment
Sciences for The 2.5-meter Wide Field Survey Telescope (WFST)
The Wide Field Survey Telescope (WFST) is a dedicated photometric survey
facility under construction jointly by the University of Science and Technology
of China and Purple Mountain Observatory. It is equipped with a primary mirror
of 2.5m in diameter, an active optical system, and a mosaic CCD camera of 0.73
Gpix on the main focus plane to achieve high-quality imaging over a field of
view of 6.5 square degrees. The installation of WFST in the Lenghu observing
site is planned to happen in the summer of 2023, and the operation is scheduled
to commence within three months afterward. WFST will scan the northern sky in
four optical bands (u, g, r, and i) at cadences from hourly/daily to
semi-weekly in the deep high-cadence survey (DHS) and the wide field survey
(WFS) programs, respectively. WFS reaches a depth of 22.27, 23.32, 22.84, and
22.31 in AB magnitudes in a nominal 30-second exposure in the four bands during
a photometric night, respectively, enabling us to search tremendous amount of
transients in the low-z universe and systematically investigate the variability
of Galactic and extragalactic objects. Intranight 90s exposures as deep as 23
and 24 mag in u and g bands via DHS provide a unique opportunity to facilitate
explorations of energetic transients in demand for high sensitivity, including
the electromagnetic counterparts of gravitational-wave events detected by the
second/third-generation GW detectors, supernovae within a few hours of their
explosions, tidal disruption events and luminous fast optical transients even
beyond a redshift of 1. Meanwhile, the final 6-year co-added images,
anticipated to reach g about 25.5 mag in WFS or even deeper by 1.5 mag in DHS,
will be of significant value to general Galactic and extragalactic sciences.
The highly uniform legacy surveys of WFST will also serve as an indispensable
complement to those of LSST which monitors the southern sky.Comment: 46 pages, submitted to SCMP
Evidence for lunar tide effects in Earth’s plasmasphere
Tides are universal and affect spatially distributed systems, ranging from planetary to galactic scales. In the Earth–Moon system, effects caused by lunar tides were reported in the Earth’s crust, oceans, neutral gas-dominated atmosphere (including the ionosphere) and near-ground geomagnetic field. However, whether a lunar tide effect exists in the plasma-dominated regions has not been explored yet. Here we show evidence of a lunar tide-induced signal in the plasmasphere, the inner region of the magnetosphere, which is filled with cold plasma. We obtain these results by analysing variations in the plasmasphere’s boundary location over the past four decades from multisatellite observations. The signal possesses distinct diurnal (and monthly) periodicities, which are different from the semidiurnal (and semimonthly) variations dominant in the previously observed lunar tide effects in other regions. These results demonstrate the importance of lunar tidal effects in plasma-dominated regions, influencing understanding of the coupling between the Moon, atmosphere and magnetosphere system through gravity and electromagnetic forces. Furthermore, these findings may have implications for tidal interactions in other two-body celestial systems
Numerical Study of Heat and Mass Transfer in the Original Structure and Homogeneous Substitution Model for Three Dimensional Porous Metal Foam
In many applications, such as the miniaturization and cooling of high-power electronics in aerospace, a new thermal management solution is needed, and metal foam radiators may be a valuable solution. In this work, X-ray scanning was applied to obtain the original structure of the metal foam. The real structure calculation model of the metal foam was obtained through a series of modeling, and high-precision numerical simulation was built to study heat and mass transfer in the original structure and homogeneous substitution model for three-dimensional porous metal foam. The distribution of velocity, pressure and temperature field is investigated. The results show that the heat transfer characteristics increase and flow resistance decreases with an increase in the Reynolds number. The heat transfer performance and flow resistance increase with the decrease of porosity. The porous media homogenization model can be consistent with the original real calculation results of metal foam by using appropriate values of resistance coefficient and porosity. The variation of resistance coefficient and porosity with the working condition in the porous homogenization model is identified
Serious Damage Localization of Continuous Girder Bridge by Support Reaction Influence Lines
A novel damage detection approach is proposed in this study for a continuous girder bridge in which support reaction influence lines (ILs) are adopted. First, the relationship between the local damage of a continuous girder bridge and a damage index, based on support reaction ILs, is established through analytical derivation. Subsequently, the sensitivity of a support reaction IL-based damage index is analyzed using Dempster-Shafer (D-S) evidence theory, and it shows that the support reaction IL-based damage index is more noise-resistant if more support reaction ILs from a variety of locations are used. Three case studies (a simple numerical study of a two-span continuous beam, a laboratory experimental study of a two-span aluminum beam, and a complicated numerical study of a continuous girder bridge in Xiamen) have been conducted to validate the effectiveness of the proposed method in different damage scenarios, including single damage and multiple damages. Satisfactory damage identification results can be obtained even in high-level measurement noise conditions, showing that the proposed approach offers a promising field detection technique for identifying local structural damages in continuous girder bridges
A Simple Control Strategy Based on Trajectory Planning for Vertical Acrobot
This paper presents a simple control method on the basis of the trajectory planning for vertical Acrobot to accomplish the control goal of moving the system from the downward initial position (DIP) and steadying the system at the upward target position (UTP). First, for the active link, we frame a trajectory that contains some adjustable parameters. Along the framed trajectory, we can make the active link stabilize at its end angle from its start angle. Furthermore, we change the trajectory parameters to make the passive link also arrive at the zone near the end angle. Next, we devise a PD-based tracking controller to track this planned trajectory. In this way, the vertical Acrobot is swung up to a small zone near the UTP. Then, from the approximate linear model at the UTP, we devise a stabilization controller to stabilize the vertical Acrobot at the UTP. Finally, we implement the simulation to show the validity of the proposed method
Safety Impact Analysis Considering Physical Failures and Cyber-Attacks for Mechanically Pumped Loop Systems (MPLs)
As complex systems composed of physical and cyber components, mechanically pumped loop systems (MPLs) are vulnerable to both passive threats (e.g., physical failures) and active threats such as cyber-attacks launched on the network control systems. The impact of the aforementioned two threats on MPL operations is yet unknown, and there is no practical way to evaluate their severity. To assess the severity of the impact of physical failures and cyber-attacks on MPLs, a safety impact analysis framework based on Elman Neural Network (ENN) observers and the Gaussian Mixture Model (GMM) algorithm is suggested. The framework discusses three common attack and failure modes: sensor hard failure that occurs suddenly, sensor soft failure that occurs gradually over time, and denial-of-service (DoS) attacks that prevent communication between the controller and valve. Both sensor failures and DoS attacks render the system unsafe, according to simulation data. In comparison to DoS attacks, however, sensor failures, particularly soft failures, inflict the greatest harm to the MPLs. Furthermore, sensors engaged in global control, rather than those involved in local control, need additional protection
Factors Influencing Earthworm Fauna in Parks in Megacity Beijing, China: An Application of a Synthetic and Simple Index (ESI)
Complicated factors in urban areas have been reported to impact the density, biomass, and diversity of earthworm fauna. Urban parks provide essential habitats for earthworm fauna. However, how earthworm fauna are impacted by park traits, such as construction age, distance to city center, visitor volumes, sizes of greenspaces/parks, and attractiveness, etc., still remains unknown. These traits are well characterized by the impacts of urbanization intensity and administration quality of parks in megacities. Therefore, 16 parks with gradients of construction ages and geographical locations in Beijing city were selected for investigation. Furthermore, an earthworm synthetic and simple index (ESI) for characterizing earthworm community has been developed to compensate for the lack of robustness by using single ecological indexes. The results showed that earthworm population density (38.6 ind/m2) and biomass (34.0 g/m2) in parks were comparable to those in other land use types in Beijing. Ecological groupings were dominated by disturbance-tolerant endogeic and deep soil-inhabiting anecic groups, and most of them were adults. The earthworm population was influenced by urbanization intensity, while the earthworm community composition, species biodiversity, and ESI were affected by administration quality of parks. The soil moisture and microbial biomass carbon were the key factors in shaping earthworm assemblages. ESI could be employed as an effective indicator in depicting character of earthworm fauna. This study highlighted the impacts of park traits on earthworms in urban parks. The variation in park traits that influence earthworm fauna was probably attributed to soil properties
Risk Assessment of Internet Credit Based on Big Data Analysis
In recent years, network technology has continued to develop, and Internet finance has rapidly developed into a new business area. Internet credit is one of the important ways for banks to conduct business, and the scale of online credit has continued to expand. Due to the existence of various unpredictable factors, frequent emergencies, and online financial fraud, the overall market risk in the field of online credit has increased, and the rate of non-performing loans has continued to increase. Online financial fraud cases show that online credit risk has become one of the most prominent risks in the operation of commercial banks, which has a direct impact on the stability and development of commercial banks. We can build a bank database system based on big data, introduce professional big data analysis technical personnel, and constantly improve the big data sharing analysis platform, so that commercial banks can use system data more fully and effectively, and facilitate relevant business personnel to use big data technology for analysis and calculation. Big data is constantly produced, which provides basic materials for online credit risk assessment. Big data analysis technology is gradually mature, and it has the necessary conditions for online credit risk assessment. Based on the theories and technologies related to big data analysis, this paper comprehensively evaluates the online credit risk in the form of example data analysis, thereby effectively reducing the online credit risk coefficient
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