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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
Mon Mar 23 2020
Journal Name
Baghdad Science Journal
Molecular Modeling and in Silico Characterization of a Pathogenesis-Related Protein-10 (PR10) and its Coding Genes in some Oryza Species
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Rice is a major staple food for more than two thirds of the world population. Pathogenesis-related proteins-10 (PR10) have a range of 154 to 163 amino acid with molecular weight ~ 17 kDa.  They are acidic and generally intracellular and cytosolic proteins accumulate in plants in response to biotic and abiotic stresses. In the present study, a PR10 gene and its corresponding protein were characterized in O. sativa, O.  barthii, O. glaberrima, O. glumipatula, O. meridionalis, O. nivara, O. rufipogon and  O. punctata. The results revealed a narrow range of variation at both DNA and protein levels in all examined species except O. glumipatula. The latter showed a relatively

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Publication Date
Fri Mar 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Buckling and Pre Stressed Dynamics Analysis of Laminated Composite Plate with Different Boundary Conditions
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Critical buckling and natural frequencies behavior of laminated composite thin plates subjected to in-plane uniform load is obtained using classical laminated plate theory (CLPT). Analytical investigation is presented using Ritz- method for eigenvalue problems of buckling load solutions for laminated symmetric and anti-symmetric, angle and cross ply composite plate with different elastic supports along its edges. Equation of motion of the plate was derived using principle of virtual work and solved using modified Fourier displacement function that satisfies general edge conditions. Various numerical investigation were studied to exhibit a convergence and accuracy of the present solution for considering some design parameters such as edge

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Publication Date
Wed Jan 01 2025
Journal Name
Open Veterinary Journal
<b>Molecular study of <i>Streptococcus equi</i> isolated from horses with strangles in Iraq</b>
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Background: Strangles is a highly contagious equine respiratory disease caused by Streptococcus equi subsp. equi. It is a globally significant pathogen and one of the most common infectious agents in horses. In Iraq, no sequencing data on this pathogen are available, and only two molecular studies have been published to date. This study provides preliminary insights into strain diversity and provides a foundation for future large-scale investigations. Aim: This study aimed to investigate the molecular characteristics, identify SeM gene alleles, and perform a phylogenetic analysis of S. equi isolates from horses in Baghdad, Iraq. Methods: We analyzed 59 Streptococcus spp. isolates previously obtained from equine clinical sample

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Publication Date
Thu Jun 11 2026
Journal Name
Journal Of Engineering
Technological Analysis of Flat Surface Conditions by Magnetic Abrasive Finishing Method (MAF)
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This study introduced the effect of using magnetic abrasive finishing method (MAF) for finishing flat surfaces. The results of experiment allow considering the MAF method as a perspective for finishing flat surfaces, forming optimum physical mechanical properties of surfaces layer, removing the defective layers and decreasing the height of micro irregularities. Study the characteristics which permit judgment parameters of surface quality after MAF method then comparative with grinding

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Publication Date
Fri Dec 20 2024
Journal Name
Journal Of Diabetes & Metabolic Disorders
Clinical relevance of midkine as a biomarker predicting atherosclerotic risk factors in individuals with type-2 diabetes mellitus: a cross-sectional study
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Publication Date
Tue Aug 22 2023
Journal Name
Microbial Science Archives
Unveiling Westiellopsis akinetica: a novel species in the Iraqi habitat, and contrasting its distinctive attributes with Westiellopsis prolifica
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This is the first record of a new species of cyanobacteria Westiellopsis akinetica in the Iraqi environment, Samples were collected on June 2013 and the existence of it was not documented before. We isolated and purified this species ten years ago in Iraq, but we couldn't identify accurately based on all taxonomic handbooks. This is due to the species features being different from the other documented species in the available taxonomic lectures. It resembled many species by morphological characteristics such as Fischerella muscicola, Fischerella thermalis, Westiellopsis biateralis SA16. Westiellopsis interrupta, Westiellopsis persica SA33, Westiellopsis prolifica and Symphyonema bifilamentata. Describing a new species of the Westiellops

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Publication Date
Tue Apr 16 2024
Journal Name
Irish Journal Of Medical Science (1971 -)
Does Parkinson’s disease affect sleep quality?
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Background Parkinson’s disease (PD) is a common neurodegenerative disease that is linked to several motor and nonmotor symptoms, including sleep disturbances. Patient quality of life has been shown to be disproportionally impacted by disease. Objectives To investigate sleep quality among individuals with PD, and to assess the severity of sleep disturbances and their impact on daytime activities. Subjects and methods A case‒control with 44 patients with Parkinson’s disease and 80 apparently healthy control participants was recruited from several hospitals and clinics. Each participant provided a thorough medical history and underwent a physical examination, and a questionnaire comprising the standard PSQI was used to assess sleep qua

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical significance of Osteoprotegerin, Vitamin D, Obestatin and some biochemical variables in Kidney failure Patients
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Chronic kidney disease (CKD) is described as an abnormalities of renal function, existing for a long period of time. By reason of the early grades of Chronic kidney disease can be experiences no symptoms, its premature identification is strenuous. initial stage CRD can cause various complications, such as anemia, matabolyic disorders of bone mineral. The study was done to assess the effect the chronic renal disease stage on the Osteoprotegerin, 1,25 dihydroxyvitamin D, Obestatin levels and some biochemical parameters in patients not undertaken dialysis therapy. In this case-control study fifty-five patients with Kidney failure and fourty healthy people were examined. Circulating concentrations of Osteoprotegerin, 1,25 dihydroxyvitamin D

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Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Medicine And Surgery
The prevalence and correlation between subclinical hypothyroidism and gall stone disease in Baghdad teaching hospital
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Publication Date
Mon Nov 28 2022
Journal Name
F1000research
In vitro apical microleakage evaluation for different endodontic sealers by spectrophotometric analysis: an observational study
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Background: It has been established that several filling techniques can affect apical leakage, which is responsible for 59% of endodontic failures. The primary goal of endodontic therapy is to create a tight seal that aids in repairing the periapical tissues, prevents apical periodontitis, and shields against root canal infection. The study aims to compare the apical sealing ability of epoxy resin based sealer  (AH plus), which is an epoxy-resin-based root canal sealer, GuttaFlow 2, which is a silicone-based root canal sealer, GuttaFlow bioseal is a bioactive glass-based root canal sealer, TotalFill HiFlow bioceramic (BC) sealer is a silicate-based root canal sealer (bioceramic sealer) using a single cone techn

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