Bendtsenmcmahon9295

P197Afs*22). A trend of a genotype-phenotype association was revealed between the phenotype and genotype subgroups. A considerably high proportion of CRX-RD in ADCORD was determined in the Japanese cohort (39.1%), often showing the mild phenotype (CORD) with late-onset disease (sixth decade). Frequently found heterozygous missense variants located within the homeodomain underlie this mild phenotype. This large cohort study delineates the disease spectrum of CRX-RD in the Japanese population.This study was to investigate the choroidal vessels in eyes with central serous chorioretinopathy (CSC) quantitatively. We studied 41 CSC eyes and their fellow eyes, and 41 normal eyes of 41 age-adjusted individuals. En-face optical coherence tomography image of the top 25% slab of Haller's layer was analyze. The mean vessel area, vessel length, and vessel diameter were calculated. The running pattern of the vessels was quantified and used to determine the degree of symmetry, the "symmetry index". The vessel area of CSC eyes was not significantly different from that of fellow eyes but significantly larger than that of normal eyes. The vessel length of CSC eyes was not significantly different from fellow eyes but significantly shorter than that of normal eyes. The mean vessel diameter was larger in CSC eyes than in the fellow eyes and the normal eye. The symmetry index was not significantly different in CSC eyes from that of their fellow eyes but was smaller than that of normal eyes. The quantitative analysis showed that eyes with CSC had larger choroidal vessels and asymmetrical vessels running in Haller's layer.The optical response of a graphene oxide integrated silicon micro-ring resonator (GOMRR) to a range of vapour phase Volatile Organic Compounds (VOCs) is reported. The response of the GOMRR to all but one (hexane) of the VOCs tested is significantly higher than that of the uncoated (control) silicon MRR, for the same vapour flow rate. An iterative Finite Difference Eigenmode (FDE) simulation reveals that the sensitivity of the GO integrated device (in terms of RIU/nm) is enhanced by a factor of ~2, which is coupled with a lower limit of detection. Critically, the simulations reveal that the strength of the optical response is determined by molecular specific changes in the local refractive index probed by the evanescent field of the guided optical mode in the device. Analytical modelling of the experimental data, based on Hill-Langmuir adsorption characteristics, suggests that these changes in the local refractive index are determined by the degree of molecular cooperativity, which is enhanced for molecules with a polarity that is high, relative to their kinetic diameter. We believe this reflects a molecular dependent capillary condensation within the graphene oxide interlayers, which, when combined with highly sensitive optical detection, provides a potential route for discriminating between different vapour phase VOCs.Structural variants (SVs) contribute to many disorders, yet, functionally annotating them remains a major challenge. Here, we integrate SVs with RNA-sequencing from human post-mortem brains to quantify their dosage and regulatory effects. We show that genic and regulatory SVs exist at significantly lower frequencies than intergenic SVs. Functional impact of copy number variants (CNVs) stems from both the proportion of genic and regulatory content altered and loss-of-function intolerance of the gene. We train a linear model to predict expression effects of rare CNVs and use it to annotate regulatory disruption of CNVs from 14,891 independent genome-sequenced individuals. Pathogenic deletions implicated in neurodevelopmental disorders show significantly more extreme regulatory disruption scores and if rank ordered would be prioritized higher than using frequency or length alone. This work shows the deleteriousness of regulatory SVs, particularly those altering CTCF sites and provides a simple approach for functionally annotating the regulatory consequences of CNVs.Many organisms, when alone, behave differently from when they are among a crowd. Drosophila similarly display social behaviour and collective behaviour dynamics within groups not seen in individuals. In flies, these emergent behaviours may be in response to the global size of the group or local nearest-neighbour density. Here we investigate i) which aspect of social life flies respond to group size, density, or both and ii) whether behavioural changes within the group are dependent on olfactory support cells. Behavioural assays demonstrate that flies adjust their interactive behaviour to group size but otherwise compensate for density by achieving a standard rate of movement, suggesting that individuals are aware of the number of others within their group. We show that olfactory support cells are necessary for flies to behave normally in large groups. These findings shed insight into the subtle and complex life of Drosophila within a social setting.Coronavirus infections of multiple origins have spread to date worldwide, causing severe respiratory diseases. Seven coronaviruses that infect humans have been identified HCoV-229E, HCoV-OC43, HCoV-NL63, HCoV-HKU1, SARS-CoV, MERS-CoV, and SARS-CoV-2. Among them, SARS-CoV and MERS-CoV caused outbreaks in 2002 and 2012, respectively. SARS-CoV-2 (COVID-19) is the most recently discovered. It has created a severe worldwide outbreak beginning in late 2019, leading to date to over 4 million cases globally. Viruses are genetically simple, yet highly diverse. However, the recent outbreaks of SARS-CoV and MERS-CoV, and the ongoing outbreak of SARS-CoV-2, indicate that there remains a long way to go to identify and develop specific therapeutic treatments. Only after gaining a better understanding of their pathogenic mechanisms can we minimize viral pandemics. This paper mainly focuses on SARS-CoV, MERS-CoV, and SARS-CoV-2. Here, recent studies are summarized and reviewed, with a focus on virus-host interactions, vaccine-based and drug-targeted therapies, and the development of new approaches for clinical diagnosis and treatment.Numerous studies have been investigated the potential of biochar (BC) derived from various materials and crop straw (CS) to decrease the bioavailability of heavy metals in soil contaminated with cadmium (Cd), and thereby reduce their potential risk to human health and the ecological environment. However, little attention has been given to the comparison of heavy metal remediation efficiency using BC and CS such as peanut vine (PV) and rice straw (RS), especially in soil contaminated with Cd. Here, we explore if Cd bioavailability is affected in contaminated soil by BC and CS. Peanuts were grown in plastic pots, which contained BC or CS at 5% (dry weight, w/w) in controlled environment mesocosms. The bioavailability of Cd in contaminated soil was measured by Cd concentration in the plant and the concentrations of various forms of Cd in the soil. At the same plant age, growth with BC (compared with PV and RS) led to 13.56% and 8.28% lower rates of Cd content in the aboveground parts, 40.65% and 35.67% lower rates of Cd content in the seeds, yet 9.08% and 7.09% lower rates of Cd content in the roots, yet 35.80% and 28.48% lower rates of exchangeable Cd content in the soil. Moreover, BC amendment enhanced the biomass of peanut and physiological quality. Thus, BC had a greater impact on immobilizing Cd in the soil. The results imply that BC was more significantly (P less then 0.05) remarkable in decreasing the Cd bioavailability and improving the biomass of peanut. BC has greater potential for enhancing soil quality and promoting peanut growth. In conclusion, this research demonstrates an understanding of employing BC as a promising inexpensive and eco-friendly amendment to remediate soil contaminated with Cd.Multiple myeloma (MM) is a plasma-cell neoplasm that is treated with high-dose chemotherapy, autologous stem cell transplant (ASCT) and long-term immunomodulatory drug (IMiD) maintenance. The presence of somatic mutations in the peripheral blood is termed clonal hematopoiesis of indeterminate potential (CHIP) and is associated with adverse outcomes. Targeted sequencing of the stem cell product from 629 MM patients treated by ASCT at the Dana-Farber Cancer Institute (2003-2011) detects CHIP in 136/629 patients (21.6%). The most commonly mutated genes are DNMT3A, TET2, TP53, ASXL1 and PPM1D. Twenty-one from fifty-six patients (3.3%) receiving first-line IMiD maintenance develop a therapy-related myeloid neoplasm (TMN). However, regardless of CHIP status, the use of IMiD maintenance associates with improved PFS and OS. In those not receiving IMiD maintenance, CHIP is associated with decreased overall survival (OS) (HR1.34, p = 0.02) and progression free survival (PFS) (HR1.45, p less then 0.001) due to an increase in MM progression.The problem of odor caused by solid wood and its lacquer finish is increasingly serious. In this study, gas chromatography-mass spectrometry/olfactometry is used to analyze the volatile organic compounds and odor-active substances released from Phoebe neurantha (Hemsl.) Gamble lacquered with three types of lacquers, which is helpful in solving furniture's odor problem. The results show that olefin emission of the three types of lacquer coating for P. neurantha (Hemsl.) Gamble decreases by more than 90% but that total volatile organic compound release increases. Among these, polyurethane (PU) lacquer could lead to a sharp increase of ester and aromatic hydrocarbons. Waterborne lacquer also releases numerous esters and alcohol compounds. Ultraviolet (UV)-curable lacquer has the greatest inhibitory effect on alcohols, aldehydes, and ketones and does not release esters or other compounds, but the release of toluene increases sharply. Benzaldehyde, toluene, and 1,3-dimethylbenzene are identified as key odor characteristic compounds of P. neurantha (Hemsl.) Gamble. Aromatic and fruity are the main odor characteristics of P. neurantha and three types of lacquer decoration studied. The overall odor intensity increases with lacquer treatment, especially PU lacquer. Among them, UV lacquer has the lowest overall odor intensity.In non-mammalian vertebrates, some neurons can regenerate after spinal cord injury. One of these, the giant Mauthner (M-) neuron shows a uniquely direct link to a robust survival-critical escape behavior but appears to regenerate poorly. Here we use two-photon microscopy in parallel with behavioral assays in zebrafish to show that the M-axon can regenerate very rapidly and that the recovery of functionality lags by just days. However, we also find that the site of the injury is critical While regeneration is poor both close and far from the soma, rapid regeneration and recovery of function occurs for injuries between 10% and 50% of total axon length. Our findings show that rapid regeneration and the recovery of function can be studied at remarkable temporal resolution after targeted injury of one single M-axon and that the decision between poor and rapid regeneration can be studied in this one axon.Bacterial strains of the phylum Planctomycetes occur ubiquitously, but are often found on surfaces of aquatic phototrophs, e.g. alga. Despite slower growth, planctomycetes are not outcompeted by faster-growing bacteria in biofilms on such surfaces; however, strategies allowing them to compensate for slower growth have not yet been investigated. Here, we identified stieleriacines, a class of N-acylated tyrosines produced by the novel planctomycete Stieleria maiorica Mal15T, and analysed their effects on growth of the producing strain and bacterial species likely co-occurring with strain Mal15T. Stieleriacines reduced the lag phase of Mal15T and either stimulated or inhibited biofilm formation of two bacterial competitors, indicating that Mal15T employs stieleriacines to specifically alter microbial biofilm composition. The genetic organisation of the putative stieleriacine biosynthetic cluster in strain Mal15T points towards a functional link of stieleriacine biosynthesis to exopolysaccharide-associated protein sorting and biofilm formation.