Mcmahankumar9959

Autosomal recessive mutations in G6PC3 cause isolated and syndromic congenital neutropenia which includes congenital heart disease and atypical inflammatory bowel disease (IBD). In a highly consanguineous pedigree with novel mutations in G6PC3 and MPL, we performed comprehensive multi-omics analyses. Structural analysis of variant G6PC3 and MPL proteins suggests a damaging effect. A distinct molecular cytokine profile (cytokinome) in the affected proband with IBD was detected. Liquid chromatography-mass spectrometry-based proteomics analysis of the G6PC3-deficient plasma samples identified 460 distinct proteins including 75 upregulated and 73 downregulated proteins. Specifically, the transcription factor GATA4 and LST1 were downregulated while platelet factor 4 (PF4) was upregulated. GATA4 and PF4 have been linked to congenital heart disease and IBD respectively, while LST1 may have perturbed a variety of essential cell functions as it is required for normal cell-cell communication. Together, these studies provide potentially novel insights into the pathogenesis of syndromic congenital G6PC3 deficiency.In this paper, we report a finding that substrate affects the adhesion of charged super-repellent surfaces. Water droplet impacting on a super-repellent surface produces surface charge, whose expression depends on the substrate. The charged super-repellent surface is sticky to droplets for a suspended substrate made of dielectric materials, while it has low adhesion for a conducting substrate or stage attached at the bottom because of electrostatic induction. Theoretical analysis and simulation are conducted to elucidate the mechanism of substrate effect on surface adhesion. Finally, we develop a new approach to reversibly tune the adhesion of super-repellent surface by combining surface-charge-induced adhesion increase and electrostatic-induction-regulated express of net surface charge. As a proof-of-concept experiment, we demonstrate that droplet sorting and manipulations can be realized by using this controllable surface adhesion tuning approach, which has potential applications in advanced lab-on-a-drop platform.In contrast to the conventional pulsatile neuromodulation that excites neurons, galvanic or direct current stimulation can excite, inhibit, or sensitize neurons. The vestibular system presents an excellent system for studying galvanic neural interface due to the spontaneously firing afferent activity that needs to be either suppressed or excited to convey head motion sensation. We determine the cellular mechanisms underlying the beneficial properties of galvanic vestibular stimulation (GVS) by creating a computational model of the vestibular end organ that elicits all experimentally observed response characteristics to GVS simultaneously. When GVS was modeled to affect the axon alone, the complete experimental data could not be replicated. We found that if GVS affects hair cell vesicle release and axonal excitability simultaneously, our modeling results matched all experimental observations. We conclude that contrary to the conventional belief that GVS affects only axons, the hair cells are likely also affected by this stimulation paradigm.Soiling is the process whereby dirt, dust, and organic/inorganic contaminants deposit on the surface of a photovoltaic (PV) module. It causes significant economic losses and can have a substantial impact on the expansion of photovoltaic technologies for energy generation. The first step to address soiling adequately is monitoring, as soiling mitigation has to be tailored to the specific conditions of each PV system and no universally valid strategy exists. The main focus of this study is to assess the current state of the art in soiling monitoring, in order to help the community better understand the needs and the challenges in this area. The potentials and the limitations of each monitoring method are discussed thoroughly in the paper, with the support of original experimental data. An estimation of the future soiling monitoring market trends is also presented, with a forecasted need for tens of thousands of new soiling monitors every year.Gene regulatory networks (GRNs) process important information in developmental biology and biomedicine. PF-04691502 inhibitor A key knowledge gap concerns how their responses change over time. Hypothesizing long-term changes of dynamics induced by transient prior events, we created a computational framework for defining and identifying diverse types of memory in candidate GRNs. We show that GRNs from a wide range of model systems are predicted to possess several types of memory, including Pavlovian conditioning. Associative memory offers an alternative strategy for the biomedical use of powerful drugs with undesirable side effects, and a novel approach to understanding the variability and time-dependent changes of drug action. We find evidence of natural selection favoring GRN memory. Vertebrate GRNs overall exhibit more memory than invertebrate GRNs, and memory is most prevalent in differentiated metazoan cell networks compared with undifferentiated cells. Timed stimuli are a powerful alternative for biomedical control of complex in vivo dynamics without genomic editing or transgenes.Microbial electrosynthesis system (MES) has recently been shown to be a promising alternative way for realizing in situ and energy-saving synthesis of hydrogen peroxide (H2O2). Although promising, the scaling-up feasibility of such a process is rarely reported. In this study, a 20-L up-scaled two-chamber MES reactor was developed and investigated for in situ and efficient H2O2 electrosynthesis. Maximum H2O2 production rate of 10.82 mg L-1 h-1 and cumulative H2O2 concentration of 454.44 mg L-1 within 42 h were obtained with an input voltage of 0.6 V, cathodic aeration velocity of 0.045 mL min-1 mL-1, 50 mM Na2SO4, and initial pH 3. The electrical energy consumption regarding direct input voltage was only 0.239 kWh kg-1 H2O2, which was further much lower compared with laboratory-scale systems. The obtained results suggested that the future industrialization of MES technology for in situ synthesis of H2O2 and further application in environmental remediation have broad prospects.The established risk factors of coronavirus disease 2019 (COVID-19) are advanced age, male sex, and comorbidities, but they do not fully explain the wide spectrum of disease manifestations. Genetic factors implicated in the host antiviral response provide for novel insights into its pathogenesis. We performed an in-depth genetic analysis of chromosome 21 exploiting the genome-wide association study data, including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry from the COVID-19 Host Genetics Initiative. We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show associations with severe COVID-19. The minor alleles of the five single nucleotide polymorphisms (SNPs) correlated with a reduced risk of developing severe COVID-19 and high level of MX1 expression in blood. Our findings demonstrate that host genetic factors can influence the different clinical presentations of COVID-19 and that MX1 could be a potential therapeutic target.We describe a physics-based learning model for predicting the immunogenicity of cytotoxic T lymphocyte (CTL) epitopes derived from diverse pathogens including SARS-CoV-2. The model was trained and optimized on the relative immunodominance of CTL epitopes in human immunodeficiency virus infection. Its accuracy was tested against experimental data from patients with COVID-19. Our model predicts that only some SARS-CoV-2 epitopes predicted to bind to HLA molecules are immunogenic. The immunogenic CTL epitopes across all SARS-CoV-2 proteins are predicted to provide broad population coverage, but those from the SARS-CoV-2 spike protein alone are unlikely to do so. Our model also predicts that several immunogenic SARS-CoV-2 CTL epitopes are identical to seasonal coronaviruses circulating in the population and such cross-reactive CD8+ T cells can indeed be detected in prepandemic blood donors, suggesting that some level of CTL immunity against COVID-19 may be present in some individuals before SARS-CoV-2 infection.The ongoing SARS-CoV-2 pandemic has highlighted the importance of the rapid development of vaccines and antivirals. However, the potential for the emergence of antibiotic resistances due to the increased use of antibacterial cleaning products and therapeutics presents an additional, underreported threat. Most antibacterial cleaners contain simple quaternary ammonium compounds (QACs); however, these compounds are steadily becoming less effective as antibacterial agents. QACs are extensively used in SARS-CoV-2-related sanitization in clinical and household settings. Similarly, due to the danger of secondary infections, antibiotic therapeutics are increasingly used as a component of COVID-19 treatment regimens, even in the absence of a bacterial infection diagnosis. The increased use of antibacterial agents as cleaners and therapeutics is anticipated to lead to novel resistances in the coming years.Virtual reality (VR) provides immersive visualization that has proved to be useful in a variety of medical applications. Currently, however, no free open-source software platform exists that would provide comprehensive support for translational clinical researchers in prototyping experimental VR scenarios in training, planning or guiding medical interventions. By integrating VR functions in 3D Slicer, an established medical image analysis and visualization platform, SlicerVR enables virtual reality experience by a single click. It provides functions to navigate and manipulate the virtual scene, as well as various settings to abate the feeling of motion sickness. SlicerVR allows for shared collaborative VR experience both locally and remotely. We present illustrative scenarios created with SlicerVR in a wide spectrum of applications, including echocardiography, neurosurgery, spine surgery, brachytherapy, intervention training and personalized patient education. SlicerVR is freely available under BSD type license as an extension to 3D Slicer and it has been downloaded over 7,800 times at the time of writing this article.We introduce a video-based system for concurrent activity recognition during teamwork in a clinical setting. During system development, we preserved patient and provider privacy by pre-computing spatio-temporal features. We extended the inflated 3D ConvNet (i3D) model for concurrent activity recognition. For the model training, we tuned the weights of the final stages of i3D using back-propagated loss from the fully-connected layer. We applied filtering on the model predictions to remove noisy predictions. We evaluated the system on five activities performed during trauma resuscitation, the initial management of injured patients in the emergency department. Our system achieved an average value of 74% average precision (AP) for these five activities and outperformed previous systems designed for the same domain. We visualized feature maps from the model, showing that the system learned to focus on regions relevant to performance of each activity.