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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 Mar 01 2020
Journal Name
Baghdad Science Journal
The Efficacy of Poppy, Papaver nudicaule extract as an Anesthetic for the Common Carp, Cyprinus carpio
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Aqueous extract of poppy plant) Papaver nudicaule) with five concentrations (50, 100, 150, 200 and 250) mg/l were used to anesthetize fingerlings of the common carp Cyprinus carpio (Mean total length 8.91 ± 0.31 cm and mean total weight 7.72 ± 1.19 gm) instead of the traditional use of MS-222. Results showed that extracted solution of poppy have partial and overall anesthesia effect on these fishes with inverse relationship between the concentrations used and the time needed to reach partial and overall anesthesia, and also direct relationship between concentrations used and time needed for fish recovery. Best results were obtained by using a concentration of 250 mg/l, where time for partial anesthesia was 8 ± 1.52 m

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Publication Date
Fri Apr 01 2022
Journal Name
Baghdad Science Journal
Study the Efficiency of Two Concentrations from Algae Cladophora glomerata Extract on the Giardia lamblia parasite
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Giardia lamblia parasite was isolated from the diarrhea samples of patients with Giardiasis dysentery and was developed in HSP media, four mice groups have been used to find in vivo efficacy of two concentrations (128,256) mg/ml of chlorophorm extracts from Cladophora glomerata algae against Giardia lamblia parasite  as compared with (Flagyl) by measuring several biochemical markers as ( GPT and GOT) enzymes ,sodium ,potassium and iron concentration as well as counting the number of parasitic cysts in each mice groups. The results demonstrate that levels of GPTA GOT enzymes have been decreased in mice treated with algal extract. As for the concentration of the Sodium, Potassium and Iron increased in mice treat

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Publication Date
Fri Jan 31 2020
Journal Name
Iraqi Geological Journal
ESTIMATION OF SHEAR WAVE VELOCITY FROM WIRELINE LOGS DATA FOR AMARA OILFIELD, MISHRIF FORMATION, SOUTHERN IRAQ
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Shear wave velocity is an important feature in the seismic exploration that could be utilized in reservoir development strategy and characterization. Its vital applications in petrophysics, seismic, and geomechanics to predict rock elastic and inelastic properties are essential elements of good stability and fracturing orientation, identification of matrix mineral and gas-bearing formations. However, the shear wave velocity that is usually obtained from core analysis which is an expensive and time-consuming process and dipole sonic imager tool is not commonly available in all wells. In this study, a statistical method is presented to predict shear wave velocity from wireline log data. The model concentrated to predict shear wave velocity fr

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Publication Date
Sun Jul 01 2012
Journal Name
Ieee Transactions On Geoscience And Remote Sensing
Echo Amplitude Normalization of Full-Waveform Airborne Laser Scanning Data Based on Robust Incidence Angle Estimation
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Publication Date
Sun Dec 06 2015
Journal Name
Baghdad Science Journal
Bounded Solutions of the Second Order Differential Equation x ?+f(x) x ?+g(x)=u(t)
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In this paper we prove the boundedness of the solutions and their derivatives of the second order ordinary differential equation x ?+f(x) x ?+g(x)=u(t), under certain conditions on f,g and u. Our results are generalization of those given in [1].

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Publication Date
Mon Jan 01 2024
Journal Name
Aip Conference Proceedings
Testing the cytotoxic potential of biosynthesized nanoparticles using Conocarpus erectus Leaves against human breast cancer cells
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Publication Date
Sun Oct 31 2021
Journal Name
International Journal Of Sustainable Development And Planning
The Crossing as a New Approach for the Urban Transformation of Traditional Cities Towards the Sustainability
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The topic of urban transformations has attracted the attention of researchers as it is one of the basic issues through which cities can be transformed towards sustainability. A specific level of transformation levels according to a philosophical concept known as a crossing. This article has relied on a specific methodology that aims to find a new approach for urban transformation based on the crossing concept. This concept derives from philosophical entrances based on the concepts of (being, process, becoming, and integration). Four levels have been for the crossing are (normal, ascending, leap, and descending). Each of these levels includes specific characteristics that distinguish it. The results showed that there is no descending

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Publication Date
Wed Jun 30 2021
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Prepared 13X Zeolite as a Promising Adsorbent for the Removal of Brilliant Blue Dye from Wastewater
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The research discussed the possibility of adsorption of Brilliant Blue Dye (BBD) from wastewater using 13X zeolite adsorbent, which is considered a byproduct of the production process of potassium carbonate from Iraqi potash raw materials. The 13X zeolite adsorbent was prepared and characterized by X-ray diffraction that showed a clear match with the standard 13X zeolite. The crystallinity rate was 82.15% and the crystal zeolite size was 5.29 nm. The surface area and pore volume of the obtained 13X zeolite were estimated. The prepared 13X zeolite showed the ability to remove BBD contaminant from wastewater at concentrations 5 to 50 ppm and the removal reached 96.60% at the lower pollutant concentration. Adsorption measurements versus tim

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Publication Date
Wed Jun 19 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Disclosure of deferred taxes according to IAS-12: بحث تطبيقي في الهيئة العامة للضرائب قسم الشركات
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The research aims to clarify the importance of adoption of International Accounting  Standard No. (12) "Income Taxes" as a tool for the measurement and disclosure of income taxes in the financial statements، and how to deal with the differences that arise as a result of difference in net profit accounting for net tax profit ،The problem of the research focused on the disparity between the income tax estimate in Iraq in accordance with the accounting standards and financial reporting and assessment of income tax in accordance with the tax laws and legislation, this discrepancy has led to the emergence of differences between accounting profit and tax profit (temporary differences and permanent differences) and these differences of w

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Publication Date
Mon Oct 14 2019
Journal Name
Applied Sciences
Synthesis of Novel Heteroatom-Doped Porous-Organic Polymers as Environmentally Efficient Media for Carbon Dioxide Storage
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The high carbon dioxide emission levels due to the increased consumption of fossil fuels has led to various environmental problems. Efficient strategies for the capture and storage of greenhouse gases, such as carbon dioxide are crucial in reducing their concentrations in the environment. Considering this, herein, three novel heteroatom-doped porous-organic polymers (POPs) containing phosphate units were synthesized in high yields from the coupling reactions of phosphate esters and 1,4-diaminobenzene (three mole equivalents) in boiling ethanol using a simple, efficient, and general procedure. The structures and physicochemical properties of the synthesized POPs were established using various techniques. Field emission scanning elect

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