1. |
- Akram, Talia, et al.
(author)
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
- 2020
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In: International Journal of Hematology. - : Springer Science and Business Media LLC. - 0925-5710 .- 1865-3774. ; 112:6, s. 894-899
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Journal article (peer-reviewed)abstract
- Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological features associated with DBA are highly variable and non-hematological abnormalities are common. We report herein on an affected mother and her daughter presenting with transfusion-dependent anemia. The mother showed mild physical abnormalities and entered spontaneous remission at age 13 years. Her daughter was born with occipital meningocele. Exome sequencing of DNA from the mother revealed a heterozygous novel splice site variant (NM_001011.4:c.508-3T > G) in the Ribosomal Protein S7 gene (RPS7) inherited by the daughter. Functional analysis of the RPS7 variant expressed from a mini-gene construct revealed that the exon 7 acceptor splice site was replaced by a cryptic splice resulting in a transcript missing 64 bp of exon 7 (p.Val170Serfs*8). Our study confirms a pathogenic effect of a novel RPS7 variant in DBA associated with spontaneous remission in the mother and meningocele in her daughter, thus adding to the genotype-phenotype correlations in DBA.
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2. |
- Gabi, Danlami, et al.
(author)
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Dynamic scheduling of heterogeneous resources across mobile edge-cloud continuum using fruit fly-based simulated annealing optimization scheme
- 2022
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In: Neural Computing & Applications. - : Springer Science+Business Media B.V.. - 0941-0643 .- 1433-3058. ; 34, s. 14085-14105
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Journal article (peer-reviewed)abstract
- Achieving sustainable profit advantage, cost reduction and resource utilization are always a bottleneck for resource providers, especially when trying to meet the computing needs of resource hungry applications in mobile edge-cloud (MEC) continuum. Recent research uses metaheuristic techniques to allocate resources to large-scale applications in MECs. However, some challenges attributed to the metaheuristic techniques include entrapment at the local optima caused by premature convergence and imbalance between the local and global searches. These may affect resource allocation in MECs if continually implemented. To address these concerns and ensure efficient resource allocation in MECs, we propose a fruit fly-based simulated annealing optimization scheme (FSAOS) to serve as a potential solution. In the proposed scheme, the simulated annealing is incorporated to balance between the global and local search and to overcome its premature convergence. We also introduce a trade-off factor to allow application owners to select the best service quality that will minimize their execution cost. Implementation of the FSAOS is carried out on EdgeCloudSim Simulator tool. Simulation results show that the FSAOS can schedule resources effectively based on tasks requirement by returning minimum makespan and execution costs, and achieve better resource utilization compared to the conventional fruit fly optimization algorithm and particle swarm optimization. To further unveil how efficient the FSAOSs, a statistical analysis based on 95% confidential interval is carried out. Numerical results show that FSAOS outperforms the benchmark schemes by achieving higher confidence level. This is an indication that the proposed FSAOS can provide efficient resource allocation in MECs while meeting customers’ aspirations as well as that of the resource providers.
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3. |
- Zakaria, Muhammad, et al.
(author)
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Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
- 2019
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 40:7, s. 899-903
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Journal article (peer-reviewed)abstract
- Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reached their third decade. Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648–5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. Brain MRI of one affected individual showed markedly reduced volume of cerebral lobes and enlarged sulci but without signs of neural migration defects. Our assessment of three adult cases with a biallelic RTTN variant shows that a predicted shortened Rotatin, lacking the C‐terminal end, are associated with stationary clinical features into the seventh decade. Furthermore, our report adds brachydactyly to the phenotypic spectrum in this pleiotropic entity.
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4. |
- Aïssa, B., et al.
(author)
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Influence of single-walled carbon nanotubes induced exciton dissociation improvement on hybrid organic photovoltaic devices
- 2019
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In: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 126:11
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Journal article (peer-reviewed)abstract
- Torch-plasma-grown single-walled carbon nanotubes (SWCNTs) are integrated with regioregular poly(3-hexylthiophene) (P3HT) and a fullerene derivative 1-(3-methoxycarbonyl) propyl-1-phenyl[6,6]C61 (PCBM) as a hybrid photoactive layer for bulk heterojunction solar cell devices. We demonstrate that molecular information could be accurately obtained by time-of-flight secondary ion mass spectrometry throughout the hybrid organic photoactive solar cell layers when sputtering is performed using a Cs+ 2000 eV ion source. Furthermore, the photovoltaic (PV) performance of the fabricated devices show an increase in the short-circuit current density (Jsc) and the fill factor (FF) as compared to the pristine devices fabricated without SWCNTs. The best results are obtained with 0.5 wt. % SWCNT loads, where an open-circuit voltage (VOC) of 660 mV is achieved, with a Jsc of 9.95 mA cm-2 and a FF of 54%, leading to a power conversion efficiency of 3.54% (measured at standard test conditions, AM1.5 g). At this optimum SWCNT concentration of 0.5 wt. %, and to further understand the charge-transfer mechanisms taking place at the interfaces of P3HT:PCBM:SWCNT, Jsc is measured with respect to the light intensity and shows a linear dependency (in the double logarithmic scale), which implies that losses in the charge carrier are rather governed by monomolecular recombination. Finally, our results show that our hybrid devices benefit from the fullerene electron accepting nature and from the SWCNT fast electron transportation feature that improve substantially the exciton dissociation efficiency. The influence of the SWCNTs on the Fermi level and the work function of the photoactive composite and its impact on the PV performance is also investigated.
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5. |
- Azeem, Babar, et al.
(author)
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Production and Characterization of Controlled Release Urea Using Biopolymer and Geopolymer as Coating Materials
- 2020
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In: Polymers. - : MDPI. - 2073-4360. ; 12:2
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Journal article (peer-reviewed)abstract
- Synthetic polymers-based controlled release urea (CRU) leaves non-biodegradable coating shells when applied in soil. Several alternative green materials are used to produce CRU, but most of these studies have issues pertaining to nitrogen release longevity, process viability, and the ease of application of the finished product. In this study, we utilized tapioca starch, modified by polyvinyl alcohol and citric acid, as coating material to produce controlled release coated urea granules in a rotary fluidized bed equipment. Response surface methodology is employed for studying the interactive effect of process parameters on urea release characteristics. Statistical analysis indicates that the fluidizing air temperature and spray rate are the most influential among all five process parameters studied. The optimum values of fluidizing air temperature (80 degrees C), spray rate (0.13 mL/s), atomizing pressure (3.98 bar), process time (110 min), and spray temperature (70 degrees C) were evaluated by multi-objective optimization while using genetic algorithms in MATLAB((R)). Urea coated by modified-starch was double coated by a geopolymer to enhance the controlled release characteristics that produced promising results with respect to the longevity of nitrogen release from the final product. This study provides leads for the design of a fluidized bed for the scaled-up production of CRU.
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6. |
- Idris, Alamin, et al.
(author)
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Effects of Phase Separation Behavior on Morphology and Performance of Polycarbonate Membranes
- 2017
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In: Membranes. - : MDPI. - 2077-0375. ; 7:2, s. 1-18
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Journal article (peer-reviewed)abstract
- The phase separation behavior of bisphenol-A-polycarbonate (PC), dissolved in N-methyl-2-pyrrolidone and dichloromethane solvents in coagulant water, was studied by the cloud point method. The respective cloud point data were determined by titration against water at room temperature and the characteristic binodal curves for the ternary systems were plotted. Further, the physical properties such as viscosity, refractive index, and density of the solution were measured. The critical polymer concentrations were determined from the viscosity measurements. PC/NMP and PC/DCM membranes were fabricated by the dry-wet phase inversion technique and characterized for their morphology, structure, and thermal stability using field emission scanning electron microscopy, Fourier transform infrared spectroscopy, and thermogravimetric analysis, respectively. The membranesâ performances were tested for their permeance to CO2, CH4, and N2 gases at 24 ± 0.5 °C with varying feed pressures from 2 to 10 bar. The PC/DCM membranes appeared to be asymmetric dense membrane types with appreciable thermal stability, whereas the PC/NMP membranes were observed to be asymmetric with porous structures exhibiting 4.18% and 9.17% decrease in the initial and maximum degradation temperatures, respectively. The ideal CO2/N2 and CO2/CH4 selectivities of the PC/NMP membrane decreased with the increase in feed pressures, while for the PC/DCM membrane, the average ideal CO2/N2 and CO2/CH4 selectivities were found to be 25.1 ± 0.8 and 21.1 ± 0.6, respectively. Therefore, the PC/DCM membranes with dense morphologies are appropriate for gas separation applications.
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7. |
- Kamarudin, Kamarulzaman, et al.
(author)
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Integrating SLAM and gas distribution mapping (SLAM-GDM) for real-time gas source localization
- 2018
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In: Advanced Robotics. - : Taylor & Francis Group. - 0169-1864 .- 1568-5535. ; 32:17, s. 903-917
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Journal article (peer-reviewed)abstract
- Gas distribution mapping (GDM) learns models of the spatial distribution of gas concentrations across 2D/3D environments, among others, for the purpose of localizing gas sources. GDM requires run-time robot positioning in order to associate measurements with locations in a global coordinate frame. Most approaches assume that the robot has perfect knowledge about its position, which does not necessarily hold in realistic scenarios. We argue that the simultaneous localization and mapping (SLAM) algorithm should be used together with GDM to allow operation in an unknown environment. This paper proposes an SLAM-GDM approach that combines Hector SLAM and Kernel DM+V through a map merging technique. We argue that Hector SLAM is suitable for the SLAM-GDM approach since it does not perform loop closure or global corrections, which in turn would require to re-compute the gas distribution map. Real-time experiments were conducted in an environment with single and multiple gas sources. The results showed that the predictions of gas source location in all trials were often correct to around 0.5-1.5 m for the large indoor area being tested. The results also verified that the proposed SLAM-GDM approach and the designed system were able to achieve real-time operation.
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8. |
- Khan, Amir Sada, et al.
(author)
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Chapter 1 - Conversion of biomass to chemicals using ionic liquids
- 2020
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In: Green Sustainable Process for Chemical and Environmental Engineering and Science. - : Elsevier. ; , s. 1-30
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Book chapter (other academic/artistic)abstract
- From the conversion of lignocellulosic biomass to platform chemicals using ionic liquids (ILs), it was concluded that ILs have dual functions and can be used as catalyst and solvent for the synthesis of 5-hydroxymethylfurfural (5-HMF) and levulinic acid (LA) from lignocellulosic biomass. The conversion of lignocellulosic biomass to chemicals depends upon the nature of feedstocks and structure of ILs. The yield of 5-HMF and LA from fructose and glucose is higher than cellulose and lignocellulose. Among the various available ILs, the acidic ionic liquids (AILs) such as [C3SO3Hmim][HSO4], [C4SO3Hmim][HSO4], [C3SO3Hmim][CH3SO3], [C3SO3Hmim][Cl], [C3SO3Hmim][CF3SO3], and [C3SO3HPy][HSO4] showed better yield of 5-HMF and LA. The imidazolium-based ILs that contain acidic functional group such HSO4 and Cl anion resulted in higher yield of LA and 5-5-HMF, respectively. Therefore it is essential to synthesize such ILs that have acidic functional group in their structure for the direct conversion of cellulose and lignocellulosic biomass to 5-HMF and LA.
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9. |
- Khan, Amir Sada, et al.
(author)
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Efficient Conversion of Lignocellulosic Biomass to Levulinic Acid Using Acidic Ionic Liquids
- 2018
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In: Carbohydrate Polymers. - : Elsevier. - 0144-8617 .- 1879-1344. ; 181, s. 208-214
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Journal article (peer-reviewed)abstract
- In the present research work, dicationic ionic liquids, containing 1,1-Bis(3-methylimidazolium-1-yl) butylene ([C4(Mim)2]) cation with counter anions [(2HSO4)(H2SO4)0], [(2HSO4)(H2SO4)2] and [(2HSO4)(H2SO4)4] were synthesised. ILs structures were confirmed using 1H NMR spectroscopy. Thermal stability, Hammett acidity, density and viscosity of ILs were determined. Various types of lignocellulosic biomass such as rubber wood, palm oil frond, bamboo and rice husk were converted into LA. Among the synthesized ionic liquids, [C4(Mim)2][(2HSO4)(H2SO4)4] showed higher % yield of LA up to 47.52 from bamboo biomass at 100 °C for 60 min, which is the better yield at low temperature and short time compared to previous reports. Surface morphology, surface functional groups and thermal stability of bamboo before and after conversion into LA were studied using SEM, FTIR and TGA analysis, respectively. This one-pot production of levulinic acid from agro-waste will open new opportunity for the conversion of sustainable biomass resources into valuable chemicals.
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10. |
- Khan, Muhammad Talal, et al.
(author)
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Distributed Secondary Frequency Control Considering Rapid Start Units Using Alternating Direction Method of Multipliers
- 2016
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In: 2016 Workshop on Modeling and Simulation of Cyber-Physical Energy Systems, MSCPES 2016 - Held as Part of CPS Week, Proceedings. - : Institute of Electrical and Electronics Engineers (IEEE). - 9781509011582
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Conference paper (peer-reviewed)abstract
- Secondary frequency control plays a vital role inpower systems and has therefore been the focus of muchresearch. Recent focus is being targeted towards developingdistributed solutions. This paper proposes a fast converging,distributed solution for secondary frequency control on the basisof the Alternating Direction Method of Multipliers (ADMM).For economic benefits the proposed solution integrates the useof rapid start units. Rapid start units are fast response and highramp offline units, which can provide the reserve power in caseof need. The proposed control scheme is a distributed solution tocombine secondary frequency control, economic dispatch and theRS start up process. Finally, the developed algorithm is tested fora power system model on a real-time co-simulation platform. Theresults show a fast converging algorithm that provides secondaryfrequency control compliant with ENTSO-E requirements, andthe economical benefits of the inclusion of a rapid start unit.
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