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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Association of Interleukin-12B Polymorphism and Serum Level of Interleukin-12 in a Sample of Iraqi Patients with Rheumatoid Arthritis
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Background In rheumatoid arthritis, your immune system attacks the tissue lining the joints on both sides of your body. Other parts of the body may also be affected. Unsure of the exact cause. Two separate genes termed IL12A (p35) and IL12 encode the heterodimeric cytokine known as IL12 (p40). Several different hematopoietic cell types can have several different hematopoietic cell types that can generate antigen-presenting cells (APCs), including DCs and macrophages. Objectives This study aimed to investigate if the interleukin IL-12B gene's common polymorphisms in an Iraqi population were associated with RA. Material and methods Blood samples were taken from 70 Iraqi patients with RA illnesses and 30 Iraqi controls during the periods from

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Publication Date
Thu Oct 03 2024
Journal Name
Applied Organometallic Chemistry
Synthesis, Characterization, Molecular Docking, Cytotoxicity, and Antimicrobial Activity of Schiff Base Ligand and Its Metal Complexes
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A Schiff base ligand (L) was synthesized via condensation of N-( 1-naphthyl) ethylenediamine dihydrochloride with phthalaldehyde. The ligand was characterized by FT-IR, UV–Vis, 1H NMR, mass spectrometry, and elemental analysis (C, H, N). Five metal complexes (Co(II), Ni(II), Cu(II), Zn(II), and Cd(II)) were prepared with the ligand in a 1:1 (M:L) ratio using an aqueous ethanol solution. The complexes were characterized by FT-IR, UV–Vis, mass spectrometry, and elemental analysis (C, H, N). Additionally, 1H NMR spectroscopy was employed for Cd(II) complex. Antimicrobial activity of the ligand and its metal complexes against pathogenic bacteria (K. pneumoniae, E. coli, S. aureus, and S. epidermidis) and fungus (C. albicans) were evaluated

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Publication Date
Thu Oct 03 2024
Journal Name
Applied Organometallic Chemistry
Synthesis, Characterization, Molecular Docking, Cytotoxicity, and Antimicrobial Activity of Schiff Base Ligand and Its Metal Complexes
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ABSTRACT<p>A Schiff base ligand (L) was synthesized via condensation of <italic>N</italic>‐(1‐naphthyl)ethylenediamine dihydrochloride with phthalaldehyde. The ligand was characterized by FT‐IR, UV–Vis, <sup>1</sup>H NMR, mass spectrometry, and elemental analysis (C, H, N). Five metal complexes (Co(II), Ni(II), Cu(II), Zn(II), and Cd(II)) were prepared with the ligand in a 1:1 (M:L) ratio using an aqueous ethanol solution. The complexes were characterized by FT‐IR, UV–Vis, mass spectrometry, and elemental analysis (C, H, N). Additionally, <sup>1</sup>H NMR spectroscopy was employed for Cd(II) complex. Antimicrobial activity of the ligand and its metal complexes against </p> ... Show More
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Scopus (14)
Crossref (13)
Scopus Clarivate Crossref
Publication Date
Thu Oct 03 2024
Journal Name
Applied Organometallic Chemistry
Synthesis, Characterization, Molecular Docking, Cytotoxicity, and Antimicrobial Activity of Schiff Base Ligand and Its Metal Complexes
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ABSTRACT<p>A Schiff base ligand (L) was synthesized via condensation of <italic>N</italic>‐(1‐naphthyl)ethylenediamine dihydrochloride with phthalaldehyde. The ligand was characterized by FT‐IR, UV–Vis, <sup>1</sup>H NMR, mass spectrometry, and elemental analysis (C, H, N). Five metal complexes (Co(II), Ni(II), Cu(II), Zn(II), and Cd(II)) were prepared with the ligand in a 1:1 (M:L) ratio using an aqueous ethanol solution. The complexes were characterized by FT‐IR, UV–Vis, mass spectrometry, and elemental analysis (C, H, N). Additionally, <sup>1</sup>H NMR spectroscopy was employed for Cd(II) complex. Antimicrobial activity of the ligand and its metal complexes against </p> ... Show More
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Publication Date
Wed Jan 01 2020
Journal Name
Biochemical And Cellular Archives
Expression of ebv latent membrane protein 1 (LMP1) in Iraqi women with cervical carcinoma
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The design of this paper is to find the possible correlation of Epstein Barr virus infection ina group of Iraqi women with cervical carcinoma though detection of Latent Membrane Protein 1 (LMP1) in these cervical tissues. Paraffinized blocks of two groups were included. The first sample of 30 cervical carcinomatous tissues and 15 biopsies from an apparently normal cervical tissues. All the samples were sectioned on a positive charged slides with 4 mm – thickness then submitted for immunohistochemical (IHC) staining to detect viral LMP1 expression. Sixty three percentage (19 out of 30) of the studies group showed positive overexpression as shown in with a significant association of the expression with cervical cancer with a significant ass

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Publication Date
Fri Jan 01 2021
Journal Name
Journal Of Engineering
Finite Element Analysis of Cracked One-Way Bubbled Slabs Strengthened By External Prestressed Strands
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Bubbled slabs can be exposed to damage or deterioration during its life. Therefore, the solution for strengthening must be provided. For the simulation of this case, the analysis of finite elements was carried out using ABAQUS 2017 software on six simply supported specimens, during which five are voided with 88 bubbles, and the other is solid. The slab specimens with symmetric boundary conditions were of dimensions 3200/570/150 mm. The solid slab and one bubbled slab are deemed references. Each of the other slabs was exposed to; (1) service charge, then unloaded (2) external prestressing and (3) loading to collapse under two line load. The external strengthening was applied using prestressed wire with four approaches, wh

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Publication Date
Sat Dec 01 2018
Journal Name
Al-khwarizmi Engineering Journal
Analysis the Surface Morphology of the Porous Media by using Atomic Force Microscope technique
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An atomic force microscope (AFM) technique is utilized to investigate the polystyrene (PS) impact upon the morphological properties of the outer as well as inner surface of poly vinyl chloride (PVC) porous fibers. Noticeable a new shape of the nodules at the outer and inner surfaces, namely "Crater nodules", has been observed. The fibers surface images have seen to be regular nodular texture at the skin of the inner and outer surfaces at low PS content. At PS content of 6 wt.%, the nodules structure was varied from Crater shape to stripe. While with increasing of PS content, the pore density reduces as a result of increasing the size of the pore at the fiber surface. Moreover, the test of 3D-AFM images shows that the roughness of both su

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Publication Date
Sat Jan 01 2011
Journal Name
Journal Of Engineering
FINITE ELEMENT ANALYSIS OF STRIP FOOTING RESTING ON GIBSON-TYPE SOIL BY USING MATLAB
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This research presents a method of using MATLAB in analyzing a nonhomogeneous soil (Gibson-type) by
estimating the displacements and stresses under the strip footing during applied incremental loading
sequences. This paper presents a two-dimensional finite element method. In this method, the soil is divided into a number of triangle elements. A model soil (Gibson-type) with linearly increasing modulus of elasticity with depth is presented. The influences of modulus of elasticity, incremental loading, width of footing, and depth of footing are considered in this paper. The results are compared with authors' conclusions of previous studies.

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Publication Date
Sun Mar 02 2014
Journal Name
Baghdad Science Journal
Study ABO/Rh system with Endothelial Inflammatory Factors in Iraqi Arab Female with Diabetes Mellitus Type II
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Diabetes mellitus type II is a disorder of metabolism and complex diseases affected by genetic environmental factors and associated with inflammation. The symptoms of type II diabetes develop gradually, which are associated with increased blood concentration of marker of the endothelial inflammatory factors. The expression of adhesion molecules, including E-selectin, intracellular adhesion molecule-1(ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) on the surface of vascular endothelial cells to help leukocyte stick to other surrounding tissues. Many researchers have made attempts to determine the significance of particular ABO phenotype for the susceptibility to diseases. Many reports show a strong association with the ABO blood grou

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Study ABO / Rh Systems with IL-18 & IL-33 in Iraqi Patients with Diabetes Mellitus Type II
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Type 2 diabetes mellitus (DM) is a group of metabolic disorder disease. The inflammatory markers act as a new risk factor for development of type 2 diabetes with a possible association with ABO/Rh blood groups. Human ABO genes are located on chromosome 9q34.1-q34.2. The aim of this study was to investigate the possible association between inflammatory markers, interleukin (IL) -18 and IL-33 in type 2DM and ABO blood groups. Sixty four patients with newly diagnosed type2 DM and control group consist of twenty healthy Iraqi individual. Laboratory test were include ABO blood groups using standard serological procedures and detection IL-18 and IL-33 in serum by ELISA kits. The Present data showed a significant increase i

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