67 research outputs found

    Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.

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    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

    Heating of multi‐species upflowing ion beams observed by Cluster on March 28, 2001

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    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.

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    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

    Detection of magnetospheric ion drift patterns at Mars

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    Mars lacks a global magnetic field, and instead possesses small-scale crustal magnetic fields, making its magnetic environment fundamentally different from intrinsic magnetospheres like those of Earth or Saturn. Here we report the discovery of magnetospheric ion drift patterns, typical of intrinsic magnetospheres, at Mars usingmeasurements fromMarsAtmosphere and Volatile EvolutioNmission. Specifically, we observewedge-like dispersion structures of hydrogen ions exhibiting butterfly-shaped distributions within the Martian crustal fields, a feature previously observed only in planetary-scale intrinsic magnetospheres. These dispersed structures are the results of driftmotions that fundamentally resemble those observed in intrinsic magnetospheres. Our findings indicate that the Martian magnetosphere embodies an intermediate case where both the unmagnetized and magnetized ion behaviors could be observed because of the wide range of strengths and spatial scales of the crustal magnetic fields around Mars.Comment: 10 pages, 6 figure

    Evidence for lunar tide effects in Earth’s plasmasphere

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    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

    Sciences for The 2.5-meter Wide Field Survey Telescope (WFST)

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    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

    [[alternative]]The Phonological Processing Skills in Predicting Word Recognition in Children with Specific Language Impairment

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    [[abstract]]本研究旨在探討學前特定型語言障礙兒童的聲韻處理能力可否作為小學一年級時識字能力的預測因子。研究對象選自台北市、新北市及桃園縣21名學齡前特定型語言障礙兒童,及21名同校、同年級以及同性別之普通兒童。在幼稚園大班時測量聲韻覺識、聲韻短期記憶以及快速唸名測驗,並於小學一年級時進行注音符號能力測驗、識字流暢性以及自編形聲字測驗。這些測驗結果乃用於探究特定型語言障礙兒童在聲韻處理能力對於與識字能力的相關性,藉此找出可預測之因子。此外,本研究亦比較特定型語言障礙兒童與普通兒童的表現,歸納特定型語言障礙兒童在唸讀注音符號與中文字時的表現特徵。綜合本研究結果發現:一. 特定型語言障礙兒童在預測因子的測驗中,聲韻覺識、聲韻短期記憶以及快速唸名的表現上皆比一般兒童要差。二. 特定型語言障礙兒童在效標測驗的表現中,注音符號能力測驗、中文識字流暢性測驗以及自編形聲字測驗也比一般兒童要差。三. 一般兒童組部分,托尼非語文智力測驗、聲韻覺識能力、快速唸名能力與中文識字能力具有顯著相關;聲韻覺識能力與注音符號能力具有顯著相關;聲韻覺識能力以及快速唸名能力與形聲字唸讀具有顯著相關。四. 特定型語言障礙兒童組部分,聲韻覺識能力與中文識字流暢性測驗具有顯著相關;聲韻覺識能力以及聲韻短期記憶與形聲字唸讀具有顯著相關;但聲韻處理的三個次能力並未與注音符號能力並未出現顯著相關。五. 一般兒童組的聲韻覺識能力、聲韻短期記憶以及快速唸名能力對於中文識字具有預測力;聲韻覺識對於注音符號能力具有預測力;聲韻覺識與語言能力對於形聲字唸讀具有預測力。六. 特定型語言障礙兒童組的聲韻覺識能力對中文識字以及形聲字唸讀具有預測力。 七. 特定型語言障礙兒童在識字能力測驗的表現特徵如下:較少出現自我修正與回饋,且在唸讀形聲字時比起一般兒童較少使用一致性規則。[[abstract]]The purpose of this study was to investigate whether the word recognition in children with specific language impairment (SLI) could be predicted by phonological processing. The participants were 21 children with SLI and 21 normal children in the kindergarten. The phonological awareness (PA) task, phonological short-term memory (PSTM) task, and rapid automatic naming (RAN) task were measured in the kindergarten. In the first grade, Chinese phonetic symbol (CPS) task, word fluency (WF) task, and phonogram task were measured. The study investigated the correlation between the phonological processing and the word recognition, and tried to find the effective predictors in Children with SLI. Besides, the study also compared the performance between children with SLI and with normal development, and categorized the features in the response of the word recognition tasks in SLI. The results of this study were as follows:1. The SLI group performed significantly worse than the normal group in the PA task, PSTM task, and RAN task.2. The SLI group performed significantly worse than the normal group in CPS task, WF task, and phonogram task.3. In the normal group, the WF task correlated with TONI-3, PA task, and RAN task; the CPS task correlated with PA task; the phonogram task correlated with the PA task and RAN task.4. In SLI group, the WF task correlated with the PA task; the phonogram tasks correlated with the PA task. However, there were no tasks correlated with the CPS task.5. In the normal group, word recognition ability could be predicted through PA task, PSTM task, and RAN task; CPS ability could be predicted through PA task; the phonogram ability could be predicted through PA task and language ability.6. Only PA task could predict word recognition ability and phonogram ability in the SLI group.7. The behavioral characteristics shown in the word recognition tasks for children with SLI were as follow: they seldom showed their self-corrected response and feedback, and used the principle of consistency less than the normal when they read phonograms

    Vision-Based Dynamic Response Extraction and Modal Identification of Simple Structures Subject to Ambient Excitation

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    Vision-based modal analysis has gained popularity in the field of structural health monitoring due to significant advancements in optics and computer science. For long term monitoring, the structures are subjected to ambient excitation, so that their vibration amplitudes are quite small. Hence, although natural frequencies can be usually identified from the extracted displacements by vision-based techniques, it is still difficult to evaluate the corresponding mode shapes accurately due to limited resolution. In this study, a novel signal reconstruction algorithm is proposed to reconstruct the dynamic response extracted by the vision-based approach to identify the mode shapes of structures with low amplitude vibration due to environmental excitation. The experimental test of a cantilever beam shows that even if the vibration amplitude is as low as 0.01 mm, the first two mode shapes can be accurately identified if the proposed signal reconstruction algorithm is implemented, while without the proposed algorithm, they can only be identified when the vibration amplitude is at least 0.06 mm. The proposed algorithm can also perform well with various camera settings, indicating great potential to be used for vision-based structural health monitoring

    Leakage-plugging while drilling and plugging agents

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