141 research outputs found
Two novel mutations of WiskottâAldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling
AbstractWiskottâAldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia. Herein, two novel mutations of WAS at T336C on exon 3, and at 1326â1329, a G deletion on exon 10, resulting in L101P missense mutation and frameshift mutation 444 stop, respectively, are reported. The affected patients with either mutation showed severe suppression of WAS protein (WASP) levels, T cell proliferation, and CFSE-labeled T cells division. Because WASP L101 have not shown direct nuclear Overhauser effect (NOE) contact with the WASP-interacting protein (WIP) in NMR spectroscopy, molecular modeling was performed to evaluate the molecular effect of WASP P101 to WIP peptide. It is presumed that P101 induced a conformational change in the Q99 residue of WASP and made the side chain of Q99 move away from the WIP peptide, resulting in disruption of the hydrogen bond between Q99 WASP and Y475 WIP. A possible model for the molecular pathogenesis of WAS has been proposed by analyzing the interactions of WASP and WIP using a molecular modeling study
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Estimation of Graphite Density and mechanical Strength of VHTR during Air-Ingress Accident
An air-ingress accident in a VHTR is anticipated to cause severe changes of graphite density and mechanical strength by oxidation process resulting in many side effects. However, the quantitative estimation has not been performed yet. In this study, the focus has been on the prediction of graphite density change and mechanical strength using a thermal hydraulic system analysis code. For analysis of the graphite density change, a simple graphite burn-off model was developed based on the similarity concept between parallel electrical circuit and graphite oxidation considering the overall changes of the graphite geometry and density. The developed model was implemented in the VHTR system analysis code, GAMMA, along with other comprehensive graphite oxidation models. As a reference reactor, GT-MHR 600 MWt reactor was selected. From the calculation, it was observed that the main oxidation process was derived 5.5 days after the accident following natural convection. The core maximum temperature reached up to 1400 C. However it never exceeded the maximum temperature criteria, 1600 C. According to the calculation results, the most oxidation occurs in the bottom reflector, so the exothermic heat generated by oxidation did not affect the core heat up. However, the oxidation process highly decreased the density of the bottom reflector making it vulnerable to mechanical stress. In fact, since the bottom reflector sustains the reactor core, the stress is highly concentrated on this part. The calculations were made for up to 11 days after the accident and 4.5% of density decrease was estimated resulting in 25% mechanical strength reduction
Low Temperature Synthesis of Hexagonal Shaped α
This study demonstrates the low temperature synthesis of α-Al2O3 by solvothermal method using gibbsite alumina precursor in 1, 4-butanediol solvent according to various pH conditions. In acidic solution, an orthorhombic boehmite (AlOOH) structure was obtained after solvothermal reaction. A significant result in this study was that the solvothermally synthesized alumina in pH=9 at 300â°C for 36âh represented a rhombohedral α-Al2O3 structure hexagonal shaped with about 1.5~2.0âÎŒm of particle size. Otherwise, the α-Al2O3 structure was rather changed to the mixture of a boehmite and α-Al2O3 structures above pH=11. In the case of α-Al2O3 synthesized at pH=9, the specific surface area was 26.18âm2/g, and the particles that were stable in acidic solution resulted in 61.80âmV of zeta potential
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Experimental Validation of Stratified Flow Phenomena, Graphite Oxidation, and Mitigation Strategies of Air Ingress Accidents
The US Department of Energy is performing research and development (R&D) that focuses on key phenomena that are important during challenging scenarios that may occur in the Next Generation Nuclear Plant (NGNP) Program / GEN-IV Very High Temperature Reactor (VHTR). Phenomena identification and ranking studies (PIRT) to date have identified the air ingress event, following on the heels of a VHTR depressurization, as very important (Schultz et al., 2006). Consequently, the development of advanced air ingress-related models and verification and validation (V&V) are very high priority for the NGNP program. Following a loss of coolant and system depressurization, air will enter the core through the break. Air ingress leads to oxidation of the in-core graphite structure and fuel. The oxidation will accelerate heat-up of the bottom reflector and the reactor core and will cause the release of fission products eventually. The potential collapse of the bottom reflector because of burn-off and the release of CO lead to serious safety problems. For estimation of the proper safety margin we need experimental data and tools, including accurate multi-dimensional thermal-hydraulic and reactor physics models, a burn-off model, and a fracture model. We also need to develop effective strategies to mitigate the effects of oxidation. The results from this research will provide crucial inputs to the INL NGNP/VHTR Methods R&D project. This project is focused on (a) analytical and experimental study of air ingress caused by density-driven, stratified, countercurrent flow, (b) advanced graphite oxidation experiments, (c) experimental study of burn-off in the bottom reflector, (d) structural tests of the burnt-off bottom reflector, (e) implementation of advanced models developed during the previous tasks into the GAMMA code, (f) full air ingress and oxidation mitigation analyses, (g) development of core neutronic models, (h) coupling of the core neutronic and thermal hydraulic models, and (i) verification and validation of the coupled models
Dissection Manual for Open Rhinoseptoplasty in a Silicone Nose Model
Open rhinoseptoplasty has been widely performed in the field of otorhinolaryngology. However, from the perspective of beginners, rhinoseptoplasty is a hard-to-learn surgery that involves a relatively steep learning curve. Therefore, practical guidance is essential to enhance the skills needed for excellent surgical outcomes. Here, we provide a step-wise dissection manual using a commercialized silicone nose model designed for rhinoseptoplasty. The contents include general approaches with regard to transcolumellar inverted V incision, flap elevation, osteotomy, septoplasty, modification of the lower lateral cartilage for tip surgery, and dorsal augmentation using silicone implants. In addition, we introduce novel techniques such as dorsal augmentation using a ready-made mold with tissue glue applied to diced cartilage and polycaprolactone mesh for rhinoseptoplasty. The present study also provides photos of individual surgical procedures using a silicone nose model for actual guidance. The authors expect that this manual will help beginning rhinoseptoplasty surgeons improve their confidence
Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses
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