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.
In this work, a weighted H lder function that approximates a Jacobi polynomial which solves the second order singular Sturm-Liouville equation is discussed. This is generally equivalent to the Jacobean translations and the moduli of smoothness. This paper aims to focus on improving methods of approximation and finding the upper and lower estimates for the degree of approximation in weighted H lder spaces by modifying the modulus of continuity and smoothness. Moreover, some properties for the moduli of smoothness with direct and inverse results are considered.
Background: Due to the complicated and time-consuming physiological procedure of bone healing, certain graft materials have been frequently used to enhance the reconstruction of the normal bone architecture. However, owing to the limitations of these graft materials, some pharmaceutical alternatives are considered instead. Chitosan is a biopolymer with many distinguishing characteristics that make it one of the best materials to be used as a drug delivery system for simvastatin. Simvastatin is a cholesterol lowering drug, and an influencer in bone formation process, because it stimulates osteoblasts differentiation, bone morphogenic protein 2, and vascular endothelial growth factor. Objectives: histological, histochemical and histomorp
... Show MoreThe research aims to clarify the importance of adoption of International Accounting Standard No. (12) "Income Taxes" as a tool for the measurement and disclosure of income taxes in the financial statements، and how to deal with the differences that arise as a result of difference in net profit accounting for net tax profit ،The problem of the research focused on the disparity between the income tax estimate in Iraq in accordance with the accounting standards and financial reporting and assessment of income tax in accordance with the tax laws and legislation, this discrepancy has led to the emergence of differences between accounting profit and tax profit (temporary differences and permanent differences) and these differences of w
... Show MoreIn this work a model of a source generating truly random quadrature phase shift keying (QPSK) signal constellation required for quantum key distribution (QKD) system based on BB84 protocol using phase coding is implemented by using the software package OPTISYSTEM9. The randomness of the sequence generated is achieved by building an optical setup based on a weak laser source, beam splitters and single-photon avalanche photodiodes operating in Geiger mode. The random string obtained from the optical setup is used to generate the quadrature phase shift keying signal constellation required for phase coding in quantum key distribution system based on BB84 protocol with a bit rate of 2GHz/s.
Purpose: clarify the integrative relationship of strategic leadership skills and effective management and the role of those skills combined or individually in achieving effective management.
Research design: The researchers used the quantitative method by surveying a class sample from the heads of the executive departments in a group of Iraqi private banks, consisting of (106) individuals according to the (VUCA Prime) methodology for effective management and the ten skills model for Johansen. The questionnaire was analyzed using a model of the structural equation.
Findings: The most prominent results of the research were the presence of a weak ro
... Show MoreIndexes of topological play a crucial role in mathematical chemistry and network theory, providing valuable insights into the structural properties of graphs. In this study, we investigate the Resize graph of G2(3), a significant algebraic structure arising from the exceptional Lie group (G2) over the finite field F3. We compute several well-known topological indices, including the Zagreb indices, Wiener index, and Randić index, to analyze the graph's connectivity and complexity. Our results reveal intricate relationships between the algebraic structure of G2(3) and its graphical properties, offering a deeper understanding of its combinatorial and spectral characteristics. These findings contribute to the broader study of algebraic graph t
... Show MoreIndustrial dyes are major pollutants in wastewater and river water with an initial visible concentration of 1 mg/L. Recent studies have shown the possibility of using polyphenol oxidase in catalytic biological treatment due to its ability to oxidize a large number of dyes and pollutants in wastewater and the flexibility to work in wide ranges of temperature, pH and salinity. It is easy availability as well as the low economic cost resulting from its use in biological treatments, this enzyme polyphenol oxidase was used. The findings in this study showed that the extraction of polyphenol oxidase (PPO) from potato peel was homogenized with potassium phosphate buffer (0.1 M, pH 7) at a ratio of 1:10 (weight: volume) for two min. The res
... Show MoreThe research discussed the possibility of adsorption of Brilliant Blue Dye (BBD) from wastewater using 13X zeolite adsorbent, which is considered a byproduct of the production process of potassium carbonate from Iraqi potash raw materials. The 13X zeolite adsorbent was prepared and characterized by X-ray diffraction that showed a clear match with the standard 13X zeolite. The crystallinity rate was 82.15% and the crystal zeolite size was 5.29 nm. The surface area and pore volume of the obtained 13X zeolite were estimated. The prepared 13X zeolite showed the ability to remove BBD contaminant from wastewater at concentrations 5 to 50 ppm and the removal reached 96.60% at the lower pollutant concentration. Adsorption measurements versus tim
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