52 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.1855Cā\u3eāT, 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
Heating of multiāspecies upflowing ion beams observed by Cluster on March 28, 2001
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149495/1/epp320083.pd
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 Earthās plasmasphere
Tides are universal and affect spatially distributed systems, ranging from planetary to galactic scales. In the EarthāMoon system, effects caused by lunar tides were reported in the Earthās 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 plasmasphereās 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
Disk Dissipation, Giant Planet Formation, and Star Formation Rate Fluctuations in the 3 Myr History of Gouldās Belt
Although episodic star formation (SF) has been suggested for nearby SF regions, a panoramic view of the recent episodic SF history in the solar neighborhood is still missing. By uniformly constraining the slope Ī± of infrared spectral energy distributions (SEDs) of young stellar objects (YSOs) in the 13 largest Gouldās Belt (GB) protoclusters surveyed by the Spitzer Space Telescope, we have constructed a cluster-averaged histogram of Ī± representing the YSO evolution lifetime as a function of the Ī± value. Complementary to the traditional SED classification scheme ( 0 , i , f , ii , and iii ) that is based on different Ī± values, a staging scheme (A, B, C, D, and E) of SED evolution is proposed on the basis of the Ī± statistical features that can be better matched to the physical stages of disk dissipation and giant planet formation. This has also allowed us to unravel the fluctuations of SF rate (SFR) in the 3 Myr history of these GB protoclusters. Diverse evolutionary patterns such as single peaks, double peaks, and ongoing acceleration of SFR are revealed. The SFR fluctuations are between 20% and 60% (ā¼40% on average) and no dependence on the average SFR or the number of SFR episodes is found. However, spatially close protoclusters tend to have similar SFR fluctuation trends, indicating that the driving force of the fluctuations should be at size scales beyond the typical cluster sizes of several parsecs
A Multi-Band LNA Covering 17–38 GHz in 45 nm CMOS SOI
This paper presents a multi-band low-noise amplifier (LNA) in the 45-nm CMOS silicon-on-insulator (SOI) process. The LNA consists of three stages, with the differential cascode amplifier as the core structure. The first stage is mainly responsible for input matching to ensure favourable noise characteristics and bandwidth, while the subsequent stages increase the gain. Moreover, the LNA utilizes baluns for input/output and interstage impedance matching. Switch capacitances are added to switch the three operating bands of the LNA, which cover 17–38 GHz overall. Measurement results show that the proposed LNA achieves a gain (S21) of 23.0 dB and a noise figure (NF) of 4.0 dB
A Multi-Band LNA Covering 17ā38 GHz in 45 nm CMOS SOI
This paper presents a multi-band low-noise amplifier (LNA) in the 45-nm CMOS silicon-on-insulator (SOI) process. The LNA consists of three stages, with the differential cascode amplifier as the core structure. The first stage is mainly responsible for input matching to ensure favourable noise characteristics and bandwidth, while the subsequent stages increase the gain. Moreover, the LNA utilizes baluns for input/output and interstage impedance matching. Switch capacitances are added to switch the three operating bands of the LNA, which cover 17ā38 GHz overall. Measurement results show that the proposed LNA achieves a gain (S21) of 23.0 dB and a noise figure (NF) of 4.0 dB
A 19.6ā39.4 GHz Broadband Low Noise Amplifier Based on Triple-Coupled Technique and T-Coil Network in 65-nm CMOS
This paper presents a differential 19.6ā39.4 GHz broadband low-noise amplifier (LNA) in 65-nm CMOS technology. The LNA consists of two cascode stage and one common-source stage. To achieve a wide bandwidth and low average noise figure, inter-stage peak-gain distribution technique and transformer-based triple-coupled technique are developed. Besides, a new compact T-coil-based network is proposed to neutralize the parasitic capacitors and enlarge the gain. The measure results show that the 3-dB bandwidth is from 19.6 to 39.4 GHz, the maximum gain is 23.5 dB, and the noise figure (NF) is from 3.7 to 5.8 dB. The dc power comsumption is 46 mW with 1V supply voltage. The input P1dB is ā17 dBm at 30 GHz
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