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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
Tue Oct 25 2022
Journal Name
Chalcogenide Letters
Study the properties of Cu2Se thin films for optoelectronic applications
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Copper selenide (Cu2Se) thin films were prepared by thermal evaporation at RT with thickness 500 nm. The heat-treating for (400 &500) K for the absorber layer has been investigated. This research includes, studying the structural properties of X-ray diffraction (XRD) that show the Cu2Se thin film (Cubic) and has a polycrystalline orientation prevalent (220). Moreover, studying the effect of annealing on their surface morphology properties by using Atomic Force Microscopy AFM. Optical properties were considered using the transmittance and absorbance spectra had been recorded when wavelength range (400 - 1000) nm in order to study the absorption coefficient and energy gap. It was found that these films had allowed direct transitio

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Publication Date
Sun Sep 30 2018
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Potato Starch for Enhancing the Properties of the Drilling Fluids
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Different additives are used in drilling fluids when the demanded properties cannot be gotten with clays. Drilling muds needs several additives and materials to give good characteristics. There are local alternatives more suitable for enhancing the rheology and filtration of drilling fluids. An experimental work had been conducted to assess the suitability of using potato starch to enhance rheological properties and filtration in drilling mud. This study investigated the potato starch as a viscosifier and fluid losses agent in drilling fluid. Results from this study proved that rheological properties of potato starch mud increased when pH of drilling fluid is increased.  Potato starch could be used to enhance gel strength at low pH

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Publication Date
Thu Jun 16 2022
Journal Name
Clean Technologies
Performance Evaluation of Roughened Solar Air Heaters for Stretched Parameters
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Artificial roughness applied to a Solar Air Heater (SAH) absorber plate is a popular technique for increasing its total thermal efficiency (ηt−th). In this paper, the influence of geometrical parameters of V-down ribs attached below the corrugated absorbing plate of a SAH on the ηt−th was examined. The impacts of key roughness parameters, including relative pitch p/e (6–12), relative height e/D (0.019–0.043), angles of attack α (30–75°), and Re (1000–20,000), were examined under real weather conditions. The SAH ηt−th roughened by V-down ribs was predicted using an in-house developed conjugate heat-transfer numerical model. The maximum SAH ηt−th was shown to be 78.8% as predicted under the steady-state condition

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Publication Date
Fri Aug 20 2021
Journal Name
Iraqi Journal Of Laser
Fractional CO2 Laser for Treatment of Female Stress Urinary Incontinence
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Background: Urinary incontinence (UI) is a common disorder that affects women of various ages and impacts all aspects of life. This condition negatively influences quality of life. Fractional CO2 laser (10600nm) is the recent method for treatment of stress urinary incontinence in women. Objectives: The purpose of the study was to evaluate the efficacy and safety of fractional CO2 laser (10600nm) in the treatment of female stress urinary incontinence. Materials & Methods: This study was done from July 2020 to February 2021conducted at the laser institute for postgraduate studies university of Baghdad, patients collected from a private clinic and the Department of

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Publication Date
Sun Mar 30 2008
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Preparation of Zeolite Type 13X from Locally Available Raw Materials
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The aim of this work was to prepare zeolite type 13X from locally available kaolin and to study the effects of using some binding materials through the process of agglomeration of this zeolite. This study was focused on using kaolin binder in different weight percents (10,15,25,35 and 45%).Physical and mechanical properties of the agglomerates such as porosity , apparent density , pore volume, crushing strength , loss on attrition , surface area and finally the adsorption capacity had been measured and evaluated .The preparation step was achieved by mixing the reactants consisting of metakaolin , source of silica as ( sodium trisilicate ) and sodium hydroxide . The conditions was temperature of 70° C and time of mixing as 8, 10,24,34,50

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Publication Date
Fri Jul 03 2026
Journal Name
Journal Of Engineering
Assessment of Equivalent Grain Diameter for Soil Specific Surface Determination
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Publication Date
Fri Dec 30 2022
Journal Name
Journal Of The College Of Education For Women
Exploring the Integration of Environmental Identity within EFL Teacher's Identity
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Nowadays, the ideas of integrating the concepts of the environment and saving it are being famous. These ideas are widely seen in many fields of study, and language education is one of them. Thus, the identity of English Language teachers (ELT) is a step toward transferring this concept in EFL materials in ELT departments. The EFL teacher's identity takes different meanings. Sometimes, it only means the teacher who teaches the English language, and other times, it means, the cultural and social aspects that the teacher and students interact during the study course. These cultural and social aspects represent the environment in teacher’s identity. This study aims to explore the environmental identity within EFL teacher identity. The sam

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Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Space-Charge Effect on the Theoretical Design of Enzil Lens
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The presentwork is a theoretical study in the field of charged particle optics. It concentrates on the design of electrostatic enzil lens for focusing charge particles beams, using inverse method in designingthe electrostatic lens. The paraxial ray equation was solved to obtain the trajectory of the particles, the optical properties such as the focal length and spherical and chromatic aberration coefficients were determined. The shape of the electrode of the electrostatic lens were determined by solving poison equation and the results showed low values of spherical and chromatic aberrations, which are considered as good criteria for good design.

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Preliminary Cytotoxic Study of Some Novel Furo-2-quinolone Compounds
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In this research, new series of Furo-2-quinolone [FQ] compounds have been synthesized. These novel [FQ] compounds were prepared from coumarin derivatives (Furocoumarins: psoralen and isopsoralen).Identifications of these FQ compounds were performed by using infrared spectrum (I.R), Ultraviolet spectrum (U.V) and Nuclear Magnetic Resonance spectrum (H1-NMR) besides some physical data. The cytotoxic screening involves ;using HEP-2 cell line which gave differential responses against tested compounds : 4,6 Dimethyl furo[2, 3-g] coumarin (C1), 1-(2`, 4`, Dimethoxy benzylideneimino)-2,6-dimethyl Furo [2, 3-g] quinoline-2-one (C3) and the angular psoralen of the same derivative

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Publication Date
Tue Jun 15 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Pathological Mechanisms of Obesity-Related Glomerulopathy: A review article
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The rising prevalence of obesity-related glomerulopathy (ORG) occurs in accordance with the rising prevalence of obesity worldwide. Clinically ORG is manifested by slowly progressing microalbuminuria that may develop to clinically evident proteinuria. Pathological characteristics of ORG include glomerular hypertrophy in the presence or absence of focal segmental glomerulosclerosis (FSGS). ORG can develop into clinically overt chronic renal insufficiency or even end-stage kidney disease. This article reviews the most important mechanisms for the development of ORG; that are abnormal renal hemodynamics, stimulation of renin-angiotensin-aldosterone system (RAAS), impairment of insulin sensetivity, ectopic lipid deposition, adipose tissue cy

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