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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
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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Publication Date
Fri Jan 01 2021
Journal Name
Environmental Pollution
Prediction of sediment heavy metal at the Australian Bays using newly developed hybrid artificial intelligence models
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Publication Date
Tue Jan 01 2019
Journal Name
Plant Archive
The enhancement of drought tolerance for plant onion (allium cepa l.) inoculated by arbuscular mycorrhizal fungi
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Publication Date
Wed Mar 01 2023
Journal Name
Journal Of Engineering
Experimental Study on the Behavior of Square-Skirted Foundation Rested on Gypseous soil Under Inclined Load
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This work investigates experimentally the effect of using a skirt with a square foundation of 100 mm width resting on dry gypseous soil (i.e., loose soil with 33% relative density), and subjected to an inclined load. Previous works did not study the use square skirted foundation rested on gypseous soil and subjected to inclined load. The investigated soil was brought from Tikrit city with 59% gypsum content. Standard physical and chemical tests on selected soil were carried out. Model laboratory tests were carried out to determine the effect of using a skirt with a square foundation on the load-settlement behavior of gypseous soil and subjected to inclined load with various Skirt depth (Ds) to foundation width (B) ratio

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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 Nov 01 2022
Journal Name
Isa Transactions
Robust adaptive active disturbance rejection control of an electric furnace using additional continuous sliding mode component
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The temperature control process of electric heating furnace (EHF) systems is a quite difficult and changeable task owing to non-linearity, time delay, time-varying parameters, and the harsh environment of the furnace. In this paper, a robust temperature control scheme for an EHF system is developed using an adaptive active disturbance rejection control (AADRC) technique with a continuous sliding-mode based component. First, a comprehensive dynamic model is established by using convection laws, in which the EHF systems can be characterized as an uncertain second order system. Second, an adaptive extended state observer (AESO) is utilized to estimate the states of the EHF system and total disturbances, in which the observer gains are updated

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Publication Date
Thu May 21 2026
Journal Name
Aip Conference Proceedings
Solving linear fractional Fredholm integro-differential equations using linear programming method via different types of polynomials
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This article introduces a novel procedure to detect an approximate solution to Fredholm fractional integro-differential equations with linear type (LFFIDE) defined using Caputo fractional derivative. The new procedure approximates the solution using three types of polynomials: Laguerre polynomials, Hermite polynomials, and Legendre polynomials, thereafter transforming the problem into a linear programming problem. The approximate solutions are compared using testing examples to examine the efficiency of the suggested approach. Also, a comparison with the other methods using the same polynomials illustrates The effectiveness and consistency of the proposed technique. Finally, the error analysis of the proposed technique and convergent are di

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Publication Date
Mon Dec 01 2025
Journal Name
Applied Thermal Engineering
Efficient thermal management of PVT systems via water-PCM hybridization: New design with optimized geometrical configuration
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Publication Date
Mon Mar 01 2021
Journal Name
Solar Energy
Efficient thermal management of the photovoltaic/phase change material system with innovative exterior metal-foam layer
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Publication Date
Wed Apr 01 2015
Journal Name
Journal Of Environmental Engineering
Using Granular Dead Anaerobic Sludge as Permeable Reactive Barrier for Remediation of Groundwater Contaminated with Phenol
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