A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.info:eu-repo/semantics/publishedVersio

Economic footprint of California wildfires in 2018

Recent increases in the frequency and scale of wildfires worldwide have raised concerns about the influence of climate change and associated socioeconomic costs. In the western United States, the hazard of wildfire has been increasing for decades. Here, we use a combination of physical, epidemiological and economic models to estimate the economic impacts of California wildfires in 2018, including the value of destroyed and damaged capital, the health costs related to air pollution exposure and indirect losses due to broader economic disruption cascading along with regional and national supply chains. Our estimation shows that wildfire damages in 2018 totalled $148.5 (126.1–192.9) billion (roughly 1.5$27.7 billion (19%) in capital losses, $32.2 billion (22$88.6 billion (59%) in indirect losses (all values in US$). Our results reveal that the majority of economic impacts related to California wildfires may be indirect and often affect industry sectors and locations distant from the fires (for example, 52% of the indirect losses—31% of total losses—in 2018 were outside of California). Our findings and methods provide new information for decision makers tasked with protecting lives and key production sectors and reducing the economic damages of future wildfires

Site-specific incorporation of phosphotyrosine using an expanded genetic code.

Access to phosphoproteins with stoichiometric and site-specific phosphorylation status is key to understanding the role of protein phosphorylation. Here we report an efficient method to generate pure, active phosphotyrosine-containing proteins by genetically encoding a stable phosphotyrosine analog that is convertible to native phosphotyrosine. We demonstrate its general compatibility with proteins of various sizes, phosphotyrosine sites and functions, and reveal a possible role of tyrosine phosphorylation in negative regulation of ubiquitination

Toward Human-Carnivore Coexistence: Understanding Tolerance for Tigers in Bangladesh

Fostering local community tolerance for endangered carnivores, such as tigers (Panthera tigris), is a core component of many conservation strategies. Identification of antecedents of tolerance will facilitate the development of effective tolerance-building conservation action and secure local community support for, and involvement in, conservation initiatives. We use a stated preference approach for measuring tolerance, based on the ‘Wildlife Stakeholder Acceptance Capacity’ concept, to explore villagers’ tolerance levels for tigers in the Bangladesh Sundarbans, an area where, at the time of the research, human-tiger conflict was severe. We apply structural equation modeling to test an a priori defined theoretical model of tolerance and identify the experiential and psychological basis of tolerance in this community. Our results indicate that beliefs about tigers and about the perceived current tiger population trend are predictors of tolerance for tigers. Positive beliefs about tigers and a belief that the tiger population is not currently increasing are both associated with greater stated tolerance for the species. Contrary to commonly-held notions, negative experiences with tigers do not directly affect tolerance levels; instead, their effect is mediated by villagers’ beliefs about tigers and risk perceptions concerning human-tiger conflict incidents. These findings highlight a need to explore and understand the socio-psychological factors that encourage tolerance towards endangered species. Our research also demonstrates the applicability of this approach to tolerance research to a wide range of socio-economic and cultural contexts and reveals its capacity to enhance carnivore conservation efforts worldwide

A semi-active H∞ control strategy with application to the vibration suppression of nonlinear high-rise building under earthquake excitations

Different from previous researches which mostly focused on linear response control of seismically excited high-rise buildings, this study aims to control nonlinear seismic response of high-rise buildings. To this end, a semi-active control strategy, in which H∞ control algorithm is used and magneto-rheological dampers are employed for an actuator, is presented to suppress the nonlinear vibration. In this strategy, a modified Kalman–Bucy observer which is suitable for the proposed semi-active strategy is developed to obtain the state vector from the measured semi-active control force and acceleration feedback, taking into account of the effects of nonlinearity, disturbance and uncertainty of controlled system parameters by the observed nonlinear accelerations. Then, the proposed semi-active H∞ control strategy is applied to the ASCE 20-story benchmark building when subjected to earthquake excitation and compared with the other control approaches by some control criteria. It is indicated that the proposed semi-active H∞ control strategy provides much better control performances by comparison with the semi-active MPC and Clipped-LQG control approaches, and can reduce nonlinear seismic response and minimize the damage in the buildings. Besides, it enhances the reliability of the control performance when compared with the active control strategy. Thus, the proposed semi-active H∞ control strategy is suitable for suppressing the nonlinear vibration of high-rise buildings

Theoretical analysis of the limiting rate of phreatic evaporation for aeolian sandy soil in Taklimakan Desert

Phreatic evaporation is a great lose for shallow groundwater in the Taklimakan Desert. Given soil type and groundwater table, the limiting rate of phreatic evaporation is defined as the maximum of water transferred from groundwater to soil surface per unit time, which is a key parameter and control condition for phreatic evaporation model developing. The soil water characteristic curve for the aeolian sandy soil in the Taklimakan Desert was fitted with the least square method based on the formula of soil moisture characteristics curve proposed by Van Genuchten, using observed soil moisture and soil water suction data. The unsaturated hydraulic conductivity was determined by the instantaneous profile method in situ and the calculation formula for unsaturated hydraulic conductivity was established. According to the steady flow theory, the quasi-analytical solution of limiting rate of phreatic evaporation was derived on the basis of generalization of the formula of unsaturated hydraulic conductivity. The results show that the soil moisture characteristics in the Taklimakan Desert can be well described by Van Genuchten's formula, and the limiting rate of phreatic evaporation declines by power function with the descending of groundwater table

Radio frequency measurements of tunnel couplings and singlet–triplet spin states in Si:P quantum dots

Spin states of the electrons and nuclei of phosphorus donors in silicon are strong candidates for quantum information processing applications given their excellent coherence times. Designing a scalable donor-based quantum computer will require both knowledge of the relationship between device geometry and electron tunnel couplings, and a spin readout strategy that uses minimal physical space in the device. Here we use radio frequency reflectometry to measure singlet–triplet states of a few-donor Si:P double quantum dot and demonstrate that the exchange energy can be tuned by at least two orders of magnitude, from 20 μeV to 8 meV. We measure dot–lead tunnel rates by analysis of the reflected signal and show that they change from 100 MHz to 22 GHz as the number of electrons on a quantum dot is increased from 1 to 4. These techniques present an approach for characterizing, operating and engineering scalable qubit devices based on donors in silicon

Global supply-chain effects of COVID-19 control measures

Countries have sought to stop the spread of coronavirus disease 2019 (COVID-19) by severely restricting travel and in-person commercial activities. Here, we analyse the supply-chain effects of a set of idealized lockdown scenarios, using the latest global trade modelling framework. We find that supply-chain losses that are related to initial COVID-19 lockdowns are largely dependent on the number of countries imposing restrictions and that losses are more sensitive to the duration of a lockdown than its strictness. However, a longer containment that can eradicate the disease imposes a smaller loss than shorter ones. Earlier, stricter and shorter lockdowns can minimize overall losses. A ‘go-slow’ approach to lifting restrictions may reduce overall damages if it avoids the need for further lockdowns. Regardless of the strategy, the complexity of global supply chains will magnify losses beyond the direct effects of COVID-19. Thus, pandemic control is a public good that requires collective efforts and support to lower-capacity countries

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice

Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is poorly understood. Here, we first confirmed that core Wnt/PCP components are expressed in osteoblasts and osteoclasts in vitro. In vivo, we performed detailed µCT comparisons of bone structure in tibiae from young male mice heterozygous for NTD-associated mutations versus WT littermates. PCP signalling disruption caused by Vangl2 (Vangl2Lp/+) or Celsr1 (Celsr1Crsh/+) mutations significantly reduced trabecular bone mass and distal tibial cortical thickness. NTD-associated mutations in non-PCP transcription factors were also investigated. Pax3 mutation (Pax3Sp2H/+) had minimal effects on bone mass. Zic2 mutation (Zic2Ku/+) significantly altered the position of the tibia/fibula junction and diminished cortical bone in the proximal tibia. Beyond these genes, we bioinformatically documented the known extent of shared genetic networks between NTDs and bone properties. 46 genes involved in neural tube closure are annotated with bone-related ontologies. These findings document shared genetic networks between spina bifida risk and bone structure, including PCP components and Zic2. Genetic variants which predispose to spina bifida may therefore independently diminish bone mass

Mapping the history and current situation of research on John Cunningham virus – a bibliometric analysis

<p>Abstract</p> <p>Background</p> <p>John Cunningham virus (JCV) constitutes a family of polyoma viruses, which plays important roles in the progressive multifocal leukoencephalopathy (PML) and tumorigenesis. However, no bibliometric investigation has been reported to guide the researchers and potential readers.</p> <p>Methods</p> <p>Papers were collected from database Sci-expanded and Pubmed until May 22, 2008. The highly-productive authors, institutes and countries, highly-cited authors and journals were ranked. The highly-cited articles were subjected to co-citation and chronological analysis with highly-frequent MeSH words for co-occurrence analysis.</p> <p>Results</p> <p>Until now, 1785 articles about JCV were indexed in Sci-expanded and 1506 in Pubmed. The main document type was original article. USA, Japan and Italy were the largest three producers about JCV. Temple University published 128 papers and ranked the top, followed by University of Tokyo. Khalili K and Yogo Y became the core authors due to more than 20 documents produced. Journal of Neurovirology published more than 15 papers and ranked the top. Padgett BL and Berger JR were the first two highly-cited authors. Journal of Virology and Journal of Neurovirology respectively ranked to the first two highly-cited journals. These top highly-cited articles were divided into 5 aspects: (1) The correlation between JC virus and tumors; (2) Causal correlation of JCV with PML; (3) Polyoma virus infection and its related diseases in renal-allograft recipients; (4) Detection of JCV antibody, oncogene and its encoding protein; (5) Genetics and molecular biology of JCV. The MeSH/subheadings were classified into five groups: (1) JCV and virus infectious diseases; (2) JCV pathogenicity and pathological appearance of PML; (3) JCV isolation and detection; (4) Immunology of JCV and PML; (5) JCV genetics and tumors.</p> <p>Conclusion</p> <p>JCV investigation mainly focused on its isolation and detection, as well as its correlation with PML and tumors. Establishment of transgenic animal model using JCV T antigen would be a hopeful and useful project in the further study.</p