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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 Jun 11 2025
Journal Name
Iraqi Journal For Computer Science And Mathematics
Topological Indices for the Resize Graph of (G<sub>2</sub>(3))
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Indexes 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

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Publication Date
Thu Feb 07 2019
Journal Name
Iraqi Journal Of Laser
Laser Enhanced Photocatalyic Degradation of Methylene blue using Nanostructured ZnO Catalyst based on Interfacial Charge Transfer
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In this research, annealed nanostructured ZnO catalyst water putrefaction system was built using sun light and different wavelength lasers as stimulating light sources to enhance photocatalytic degradation activity of methylene blue (MB) dye as a model based on interfacial charges transfer. The structural, crystallite size, morphological, particle size, optical properties and degradation ability of annealed nanostructured ZnO were characterized by X-Ray Diffraction (XRD), Atomic Force Microscopy (AFM) and UV-VIS Spectrometer, respectively. XRD results demonstrated a pure crystalline hexagonal wurtzite with crystalline size equal to 23 nm. From AFM results, the average particle size was 79.25nm. All MB samples and MB with annealed nanostr

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Publication Date
Sat Sep 26 2026
Journal Name
Journal Mustansiriyah Of Sports Science
The influence of excellent offensive basketball skill-learning activities based on sensory perceptions for female pupils.
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The aim of this research is to develop qualitative workouts based on certain sensory perceptions for the development of offensive basketball abilities and to determine their impact on female pupils. Several findings, based on the au-thor's extensive expertise instructing basketball materials and our closeness to the sample, revealed deficits in some sensory perceptions “in the game of basketball”, which impair the accuracy of passing the ball to the best team-mate. It also affects the pace of dribbling and the difficulty of selecting the op-timal moment and distance to fire. Therefore, the researcher designs qualita-tive activities based on many sensory experiences, including distance, speed, force, and direction shift. In addition, the

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Publication Date
Sun Oct 01 2023
Journal Name
Baghdad Science Journal
Gaussian Integer Solutions of the Diophantine Equation x^4+y^4=z^3 for x≠ y
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The investigation of determining solutions for the Diophantine equation  over the Gaussian integer ring for the specific case of  is discussed. The discussion includes various preliminary results later used to build the resolvent theory of the Diophantine equation studied. Our findings show the existence of infinitely many solutions. Since the analytical method used here is based on simple algebraic properties, it can be easily generalized to study the behavior and the conditions for the existence of solutions to other Diophantine equations, allowing a deeper understanding, even when no general solution is known.

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Publication Date
Mon Apr 19 2021
Journal Name
Bridge Maintenance, Safety, Management, Life-cycle Sustainability And Innovations
Flexure strengthening of concrete bridge girders with concavely curved soffit using near-surface-mounted CFRP bars
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Publication Date
Thu Oct 29 2020
Journal Name
The 11th International Renewable Energy Congress (irec 2020)
Thermal efficiency Optimization of the evacuated tube solar water heater system by using mirror flat reflector
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In this paper a comparison of the experimental of evacuated tube solar water heater systems with and without mirror flat reflector. The aim of using the reflector to improve thermal efficiency, and the data gathered which are (temperature, solar irradiation and time) for three days were compared. the results from compared data the temperature lower increase in evacuated tube solar water heater system without reflector than the temperature increase in evacuated tube solar water heater system with reflector .The results show (53, 39, 35) % for three days respectively that the evacuated tube solar water heater system with reflector has higher thermal efficiencies than the results (47, 28, 30) % for three days respectively thermal efficiencies

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Publication Date
Fri Sep 15 2023
Journal Name
Journal Of Baghdad College Of Dentistry
The influence of lemongrass essential oil addition into heat cured acrylic resin against Candida albicans adhesion
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Background: For decades, the use of naturally accessible materials in treating human disease has been widespread. The goal of this study was to determine the anti-fungal effectiveness /of the lemongrass essential oil (LGEO) versus Candida albicans (C. albicans) adhesion to polymethylmethacrylate (PMMA) materials. Material and methods: LGEO's anti-fungal activity was tested against C. albicans adhesion using the following concentration of LGEO in PMMA monomer (2.5 vol. %, 5 vol. % LGEO) selected from the pilot study as the best two effective concentrations. A total of 40 specimens were fabricated for the candida adherence test and were subdivided into four equal groups: negative control 0 vol. % addition, experimental with 2.5 vol. % and

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Publication Date
Fri Jan 01 2016
Journal Name
Asian Journal Of Chemistry
Zwitterionic Ion Chromatography of Dansyl Amino Acids with 4-Vinylbenzyl Dimethyl Ammonio Pentanesulfonate as Stationary Phase
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Publication Date
Fri Sep 15 2023
Journal Name
Journal Of Baghdad University College Of Dentistry
Immunohistochemical evaluation for integrin binding sialoprotein on healing process of intrabony defect treated by bone sialoprotein
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Publication Date
Mon Oct 13 2025
Journal Name
Mesopotamian Journal Of Cybersecurity
Improvement of the Face Recognition Systems Security Against Morph Attacks using the Developed Siamese Neural Network
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Face Recognition Systems (FRS) are increasingly targeted by morphing attacks, where facial features of multiple individuals are blended into a synthetic image to deceive biometric verification. This paper proposes an enhanced Siamese Neural Network (SNN)-based system for robust morph detection. The methodology involves four stages. First, a dataset of real and morphed images is generated using StyleGAN, producing high-quality facial images. Second, facial regions are extracted using Faster Region-based Convolutional Neural Networks (R-CNN) to isolate relevant features and eliminate background noise. Third, a Local Binary Pattern-Convolutional Neural Network (LBP-CNN) is used to build a baseline FRS and assess its susceptibility to d

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