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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
Sat Feb 01 2020
Journal Name
Iop Conference Series: Materials Science And Engineering
Using GIS Technique for evaluating water quality of Abu Zarag marsh during the flood season
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Abstract<p>This research deals with the most important heritage in Iraq, which are the Iraqi marshes, especially Abu Zarag marsh in Al-Nasiriyah city south of Iraq. The research is divided into two parts. The first part deals with evaluating the water quality parameters of Abu Zarag marsh for the period from December 2018 to April 2019 which is the flooding season. The parameters are Temperature, pH, Electrical Conductivity, Total Dissolved Solids, Alkalinity, Total Hardness, Turbidity, Dissolved Oxygen, Sulfate, Nitrate. The second part is a comparison between the water quality parameters during the recent period with the same period during the previous years from 2014 to 2019. The results are </p> ... Show More
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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Reflection of innovative marketing skills on the broad recommendation Survey Research at Asia Telecom- Iraq
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The research aims at clarifying the relationship between innovative marketing skills and broad recommendation as a vital and important issue for organizations in general and service organizations in particular to demonstrate how innovative marketing skills contribute to broad adoption and to determine the relationship between interdependence and the impact of innovative marketing skills on the broad recommendation. Some questions are posed by the research problem. Is there a clear awareness among individuals in the company about the concept of marketing marketing skills and how do innovative marketing skills affect the broad recommendation of the surveyed company? How innovative marketing skills relate to the broad recommendation

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Publication Date
Sun Sep 01 2019
Journal Name
Baghdad Science Journal
Common Fixed Point of a Finite-step Iteration Algorithm Under Total Asymptotically Quasi-nonexpansive Maps
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      Throughout this paper, a generic iteration algorithm for a finite family of total asymptotically quasi-nonexpansive maps in uniformly convex Banach space is suggested. As well as weak / strong convergence theorems of this algorithm to a common fixed point are established. Finally, illustrative numerical example by using Matlab is presented.

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Publication Date
Mon Jun 28 2021
Journal Name
Journal Of Engineering
Effective quality control of a municipal wastewater treatment plant using Geographic information systems: A Review
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Inefficient wastewater disposal and wastewater discharge problems in water bodies have led to increasing pollution in water bodies.  Pollutants in the river contribute to increasing the biological oxygen demand (BOD), total suspended solids (SS), total dissolved solids (TDS), chemical oxygen demand (COD), and toxic metals render this water unsuitable for consumption and even pose a significant risk to human health. Over the last few years, water conservation has been the subject of growing awareness and concern throughout the world, so this research focused on review studies of researches that studied the importance of water quality of wastewater treated disposal in water bodies and modern technology to management w

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Publication Date
Thu Dec 31 2015
Journal Name
Al-khwarizmi Engineering Journal
Corrosion Effective of Condensed Synthetic Automotive Solution Containing Selective Organic Component Mixtures on Al-alloys
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Abstract

 This work involves studying the effect of adding some selective organic component mixture on corrosion behavior of pure Al and its alloys in condensed synthetic automotive solution (CSAS) at room temperature. This mixture indicates the increasing of octane number in previous study and in this study show the increasing in corrosion resistance through the decreasing in corrosion rate values.

Electrochemical measurements were carried out by potentiostat at 3 mV/sec to estimate the corrosion parameters using  Tafel extrapolation method, in addition to cyclic polarization test to know the pitting susceptibility of materials in tested medium.

The cathodic Tafel slope

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Publication Date
Wed Dec 01 2010
Journal Name
Al-khwarizmi Engineering Journal
Improvement of Surface Roughness Quality for Stainless Steel 420 Plate Using Magnetic Abrasive Finishing Method
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     An experimental study was carried out to improve the surface roughness quality of the stainless steel 420 using magnetic abrasive finishing method (MAF). Four independent operation parameters were studied (working gap, coil current, feed rate, and table stroke), and their effects on the MAF process were introduced. A rotating coil electromagnet was designed and implemented to use with plane surfaces. The magnetic abrasive powder used was formed from 33%Fe and 67% Quartz of (250µm mesh size). The lubricant type SAE 20W was used as a binder for the powder contents. Taguchi method was used for designing the experiments and the optimal values of the selected parameters were found. An empirical equation representing the r

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Publication Date
Mon Dec 09 2024
Journal Name
International Journal Of Mechatronics And Applied Mechanics
DESIGN OF A HYDRAULIC MOTION CONTROL SYSTEM USING TWO BACKSTEPPING TIME VARYING SLIDING MODE STRATEGIES
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A second-order sliding mode control is used for high-order uncertain plants using equivalent control approach to improve the performance of control systems. They combine backstepping with quasi-continuous controller and twisting controllers. This paper considers a two of the most popular controllers that are used to solve the nonlinearities problem which are the backstepping quasi-continuous control (BQCC) and backstepping twisting controllers to control the angular velocity of a hydraulic motor to improve tracking performance and robustness to uncertainties. For the system dynamics, a linear state feedback with suitable high gain was designed as the virtual controller, where steady state error can be made arbitrarily small according to the

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Publication Date
Wed Sep 22 2021
Journal Name
The Structural Design Of Tall And Special Buildings
Utilizing I‐shaped shear links as dampers to improve the behavior of concentrically braced frames
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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)
Some Variables Affecting the Formulation of Pentoxifylline (PTX) as a Solid Sustained Release Dosage Form
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An inert matrix  that is used to control the release of  (PTX) was prepared using Eudragit RL100 and RSPM types as matrix forming agent . The matrices were prepared by either dry granulation(slugging) , or wet granulation method using chloroform as a solvent evaporation vehichle. The cumulative release was adjusted by using polyvinylpyrollidone (PVP) or ethylcellulose (EC) polymers .The results indicated that   both methods of preparation were valid for incorporation PTX as a sustained release granules .Moreover ,the results revealed that best polymer used  was Eudragit RSPM in 3:20 polymer drug ratio .Besides to that ,   the results indicated that the release profiles were affected by  pH- medium&

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Publication Date
Sun Mar 01 2015
Journal Name
Sust Journal Of Engineering And Computer Science (jecs)
Virtual failure influence of Roseires dam on Khartoum city using HEC-RAS Hydraulic simulation modeling
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Dam break is series phenomenon that can result in fatal consequences and loss of properties. Unfortunately, the observed consequences can only be available after the dam breaks. Therefore, it is important to anticipate what will happen prior to dam break to issue suitable warning and locate the possible risk areas. This study attempts to simulate the case of dam break in Blue Nile at Roseires dam and see its consequences downstream. Roseires dam lies at a distance of 630 km south of Khartoum, Sennar dam lies at about 260 km downstream of Roseires dam. In this study hydraulic model is developed based of Hydraulic Engineering Centre (HEC), River Analysis System (RAS), and HEC- RAS. The HEC-RAS based model is calibrated and validated usi

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