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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Wed Jun 29 2022
Journal Name
Chemphyschem
Spherical Aromaticity of Tetrahedral Pnictogens Through <i>Off</i> ‐Nucleus Isotropic Magnetic Shielding
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This work revealed the spherical aromaticity of some inorganic E4 cages and their protonated E4H+ ions (E=N, P, As, Sb, and Bi). For this purpose, we employed several evaluations like (0D-1D) nucleus independent chemical shift (NICS), multidimensional (2D-3D) off-nucleus isotropic shielding σiso(r), and natural bond orbital (NBO) analysis. The magnetic calculations involved gauge-including atomic orbitals (GIAO) with two density functionals B3LYP and WB97XD, and basis sets of Jorge-ATZP, 6-311+G(d,p), and Lanl2DZp. The Jorge-ATZP basis set showed the best consistency. Our findings disclosed non-classical aromatic characters in the above molecules, which decreased from N to Bi cages. Also, the results showed more aromaticity in E4 than E4H+

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Publication Date
Fri Feb 03 2023
Journal Name
Nano Hybrids And Composites
Synthesis and Characterization of Nanoparticles Extracted from &lt;i&gt;Catharanthus roseus&lt;/i&gt; Plant
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The Catharanthus roseus plant was extracted and converted to nanoparticles in this work. The Soxhlet method extracted alkaloid compounds from the plant Catharanthus roseus and converted them to the nanoscale. Chitosan polymer was used as a linking material and converted to Chitosan nanoparticles using Sodium TriPolyPhosphate (STPP). The extracted alkaloids were linked with Chitosan nanoparticles CSNPs by maleic anhydride to get the final product (CSNPs- Linker- alkaloids). The synthesized (CSNPs- Linker- alkaloids) was characterized using SEM spectroscopy UV–Vis., Zeta Potential, and HPLC High-Performance Liquid Chromatography. Scanning electron microscope (SEM) analysis shows that the Chitosan nanoparticles (CSNPs) have small dim

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Publication Date
Fri Feb 14 2014
Journal Name
Journal Of Basic Microbiology
Isolation and characterization of lytic vibriophage against <i>Vibrio cholerae</i> O1 from environmental water samples in Kelantan, Malaysia
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Water samples from a variety of sources in Kelantan, Malaysia (lakes, ponds, rivers, ditches, fish farms, and sewage) were screened for the presence of bacteriophages infecting Vibrio cholerae. Ten strains of V. cholerae that appeared to be free of inducible prophages were used as the host strains. Eleven bacteriophage isolates were obtained by plaque assay, three of which were lytic and further characterized. The morphologies of the three lytic phages were similar with each having an icosahedral head (ca. 50–60 nm in diameter), a neck, and a sheathed tail (ca. 90–100 nm in length) characteristic of the family Myoviridae.

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Publication Date
Sat Oct 01 2022
Journal Name
Advances In Structural Engineering
Experimental and FE analysis of composite RC beams with encased pultruded GFRP I-beam under static loads
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Publication Date
Sat Oct 01 2022
Journal Name
Advances In Structural Engineering
Experimental and FE analysis of composite RC beams with encased pultruded GFRP I-beam under static loads
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Encasing glass fiber reinforced polymer (GFRP) beam with reinforced concrete (RC) improves stability, prevents buckling of the web, and enhances the fire resistance efficiency. This paper provides experimental and numerical investigations on the flexural performance of RC specimens composite with encased pultruded GFRP I-sections. The effect of using shear studs to improve the composite interaction between the GFRP beam and concrete was explored. Three specimens were tested under three-point loading. The deformations, strains in the GFRP beams, and slippages between the GFRP beams and concrete were recorded. The embedded GFRP beam enhanced the peak loads by 65% and 51% for the composite specimens with and without shear connectors,

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Publication Date
Sat Aug 21 2021
Journal Name
Engineering, Technology &amp; Applied Science Research
The Response of a Highly Skewed Steel I-Girder Bridge with Different Cross-Frame Connections
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Braces in straight bridge systems improve the lateral-torsional buckling resistance of the girders by reducing the unbraced length, while in horizontally curved and skew bridges, the braces are primary structural elements for controlling deformations by engaging adjacent girders to act as a system to resist the potentially large forces and torques caused by the curved or skewed geometry of the bridge. The cross-frames are usually designed as torsional braces, which increase the overall strength and stiffness of the individual girders by creating a girder system that translates and rotates as a unit along the bracing lines. However, when they transmit the truck’s live load forces, they can produce fatigue cracks at their connection

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Publication Date
Mon Jun 05 2023
Journal Name
Journal Of Engineering
Serviceability behavior of High Strength Concrete I-beams reinforced with Carbon Fiber Reinforced Polymer bars
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Fiber Reinforced Polymer (FRP) bars are anisotropic in nature and have high tensile strength in the fiber direction. The use of High-Strength Concrete (HSC) allows for better use of the high-strength properties of FRP bars. The mechanical properties of FRP bars can yield to large crack widths and deflections. As a result, the design of concrete elements reinforced with FRP materials is often governed by the Serviceability Limit States (SLS). This study investigates the short-term serviceability behavior of FRP RC I-beams. Eight RC I-beams reinforced with carbon-FRP (CFRP) and four steel RC I-beams, for comparison purposes, were tested under two-point loading.
Deformations on the concrete and crack widths and spacing are measured and

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Publication Date
Mon Jul 01 2024
Journal Name
Alexandria Engineering Journal
Comparison of some Bayesian estimation methods for type-I generalized extreme value distribution with simulation
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The Weibull distribution is considered one of the Type-I Generalized Extreme Value (GEV) distribution, and it plays a crucial role in modeling extreme events in various fields, such as hydrology, finance, and environmental sciences. Bayesian methods play a strong, decisive role in estimating the parameters of the GEV distribution due to their ability to incorporate prior knowledge and handle small sample sizes effectively. In this research, we compare several shrinkage Bayesian estimation methods based on the squared error and the linear exponential loss functions. They were adopted and compared by the Monte Carlo simulation method. The performance of these methods is assessed based on their accuracy and computational efficiency in estimati

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Publication Date
Mon Jun 27 2022
Journal Name
Materials
Flexural Performance of Encased Pultruded GFRP I-Beam with High Strength Concrete under Static Loading
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There is an interesting potential for the use of GFRP-pultruded profiles in hybrid GFRP-concrete structural elements, either for new constructions or for the rehabilitation of existing structures. This paper provides experimental and numerical investigations on the flexural performance of reinforced concrete (RC) specimens composite with encased pultruded GFRP I-sections. Five simply supported composite beams were tested in this experimental program to investigate the static flexural behavior of encased GFRP beams with high-strength concrete. Besides, the effect of using shear studs to improve the composite interaction between the GFRP beam and concrete as well as the effect of web stiffeners of GFRP were explored. Encasing the GFRP

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Publication Date
Tue Jul 13 2010
Journal Name
Journal Of Kerbala University
Synthesis and Characterization of Fe(II),Cd(II),Hg(II) and Ag (I) complexes with 2-Thiotolylurea Ligand
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Complexes reaction of Fe+2, Cd+2, Hg+2 and Ag+ with the 2-thiotolylurea were prepared in ethanolic medium with the (1:1) M:L ratio yielded a series of neutral complexes. The prepared complexes were characterized using flame atomic absorption, micoelemental analysis (C.H.N), chloride content (Mohr Method) , FT.IR and UV-Vis spectroscopic, as well as magnetic susceptibility and conductivity measurement. From the above data, the proposed molecular structure for Fe+2, Cd+2 and Hg+2 complexes are tetrahedral geometry while Ag+ complex is trigonal structure.