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Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
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Objectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed by gene sequencing and ASM activity. Study design This was a retrospective observational cohort study of patients diagnosed with ASMD in Iraq. Results The cohort included 47 patients with ASMD. A positive family history and consanguinity were noted in 66% and 98% of these cases, respectively. Hepatosplenomegaly, anemia, and thrombocytopenia were present in 100%, 79%, and 44% of patients, respectively. Notably, dysmorphic features were observed in 23% of cases. Thirteen SMPD1 variants were present in this cohort, the most common of which were c.1556A > G (p.Tyr519Cys), c.740delG (p.Gly247Alafs*10), c.967A > C (p.Ser323Arg), and c.1267C > T (p.His423Tyr). Three of the variants identified were novel, specifically c.967A > C (p.Ser323Arg), c.1579A > G (p.Asn527Asp), and c.905C > T (p.Thr302Ile). Conclusions Physicians assessing infants and children who present with hepatosplenomegaly or anemia and dysmorphic features should have a high index of suspicion for ASMD, particularly in regions with high rates of consanguineous unions.

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Publication Date
Wed Jul 01 2015
Journal Name
Journal Of Engineering
Optimal Location of Static Synchronous Compensator (STATCOM) for IEEE 5-Bus Standard System Using Genetic Algorithm
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Heuristic approaches are traditionally applied to find the optimal size and optimal location of Flexible AC Transmission Systems (FACTS) devices in power systems. Genetic Algorithm (GA) technique has been applied to solve power engineering optimization problems giving better results than classical methods. This paper shows the application of GA for optimal sizing and allocation of a Static Compensator (STATCOM) in a power system. STATCOM devices used to increase transmission systems capacity and enhance voltage stability by regulate the voltages at its terminal by controlling the amount of reactive power injected into or absorbed from the power system. IEEE 5-bus standard system is used as an example to illustrate the te

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Publication Date
Thu Dec 01 2022
Journal Name
Baghdad Science Journal
The Approximation of Weighted Hölder Functions by Fourier-Jacobi Polynomials to the Singular Sturm-Liouville Operator
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      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.

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Publication Date
Wed Mar 01 2023
Journal Name
Journal Of Engineering
Stiffness Characteristics of Pile Models for Cement Improving Sandy Soil by Low-Pressure Injection Laboratory Setup
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Soil improvement has developed as a realistic solution for enhancing soil properties so that structures can be constructed to meet project engineering requirements due to the limited availability of construction land in urban centers. The jet grouting method for soil improvement is a novel geotechnical alternative for problematic soils for which conventional foundation designs cannot provide acceptable and lasting solutions. The paper's methodology was based on constructing pile models using a low-pressure injection laboratory setup built and made locally to simulate the operation of field equipment. The setup design was based on previous research that systematically conducted unconfined compression testing (U.C.Ts.). Th

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Publication Date
Sun Dec 01 2024
Journal Name
Minar International Journal Of Applied Sciences And Technology
STUDY THE EFFECT OF THE PARAMETER C ON THE SPIN CORRECTED PREEQUILIBRIUM PARTIAL LEVEL DENSITY FORMULA
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Publication Date
Wed Jul 17 2019
Journal Name
Aip Conference Proceedings
The correction of the line profiles for x-ray diffraction peaks by using three analysis methods
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In this study used three methods such as Williamson-hall, size-strain Plot, and Halder-Wagner to analysis x-ray diffraction lines to determine the crystallite size and the lattice strain of the nickel oxide nanoparticles and then compare the results of these methods with two other methods. The results were calculated for each of these methods to the crystallite size are (0.42554) nm, (1.04462) nm, and (3.60880) nm, and lattice strain are (0.56603), (1.11978), and (0.64606) respectively were compared with the result of Scherrer method (0.29598) nm,(0.34245),and the Modified Scherrer (0.97497). The difference in calculated results Observed for each of these methods in this study.

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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Ecological Engineering
Chromium Ions Removal by Capacitive Deionization Process – Optimization of the Operating Parameters with Response Surface Methodology
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An innovative desalination method called electrosorption or capacitive deionization (CDI) has significant benefits for wastewater treatment. This process is performed by using a carbon fiber electrode as a working electrode to remove hexavalent chromium ions from an aqueous solution. The pH, NaCl concentration, and cell voltage were optimized using the Box-Behnken experimental design (BDD) in response surface methodology (RSM) to study the effects and interactions of selected variables. To attain the relationship between the process variables and chromium removal, the experimental data were subjected to an analysis of variance and fitted with a quadratic model. The optimum conditions to remove Cr(VI) ions were: pH of 2, a cell voltage of 4.

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Publication Date
Mon Jan 01 2024
Journal Name
2nd International Conference For Engineering Sciences And Information Technology (esit 2022): Esit2022 Conference Proceedings
Numerical solution to inverse coefficient problem for hyperbolic equation under overspecified condition of general integral type
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Publication Date
Fri Sep 01 2017
Journal Name
Journal Of Bridge Engineering
Novel Demountable Shear Connector for Accelerated Disassembly, Repair, or Replacement of Precast Steel-Concrete Composite Bridges
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A novel demountable shear connector for precast steel-concrete composite bridges is presented. The connector uses high-strength steel bolts, which are fastened to the top flange of the steel beam with the aid of a special locking nut configuration that prevents bolts from slipping within their holes. Moreover, the connector promotes accelerated construction and overcomes the typical construction tolerance issues of precast structures. Most importantly, the connector allows bridge disassembly. Therefore, it can address different bridge deterioration scenarios with minimum disturbance to traffic flow including the following: (1) precast deck panels can be rapidly uplifted and replaced; (2) connectors can be rapidly removed and replaced; and (

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Publication Date
Thu Apr 20 2023
Journal Name
International Journal Of Biomaterials
Antifungal Activity of Bioactive Compounds Produced by the Endophytic Fungus Paecilomyces sp. (JN227071.1) against Rhizoctonia solani
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Biologically active natural compounds are molecules produced by plants or plant-related microbes, such as endophytes. Many of these metabolites have a wide range of antimicrobial activities and other pharmaceutical properties. This study aimed to evaluate (in vitro) the antifungal activities of the secondary metabolites obtained from Paecilomyces sp. against the pathogenic fungus Rhizoctonia solani. The endophytic fungus Paecilomyces was isolated from Moringa oleifera leaves and cultured on potato dextrose broth for the production of the fungal metabolites. The activity of Paecilomyces filtrate against the radial growth of Rhizoctonia solani was tested by mixing the filtrate with potato dextrose agar medium at concentrations of 15%,

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Publication Date
Tue May 12 2026
Journal Name
International Journal Of Environmental Analytical Chemistry
Eco-friendly chelating Ni(II) nano-compounds for colorimetric optical fiber sensing of heavy metal ions
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A new Ni(II) nanostructured chelating system (DHN) was introduced for selective optical heavy-metal ion sensing in an aqueous medium. The cooperative chelating system comprising 8-hydroxyquinoline (8-HQ) and dimethylglyoxime (DMG) has been developed for the first time in association with fibre optic sensing for selective optical heavy-metal ion sensing in an aqueous medium. The Ni(II) nanocompound fluoresces upon 578 nm excitation, showing a highly sensitive optical response with a linear calibration curve in the range 0–100 ng/mL. The regression equation of the calibration curve is y = 0.0035x + 0.9990, which indicates very good linearity, implying R2 = 0.999 with high sensitivity (calibration slope of 0.0035) and low baseline noise (bla

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