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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
Fri Feb 01 2019
Journal Name
Plant Archive
EFFECT OF ND:YAG (1064NM) ON STAPHYLOCOCCUS AUREUS ISOLATED FROM WOUNDS
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Between October and December 2018, 27wounds and burn swab specimens were collected by laboratories at Al-Yarmook hospital, and cultured on Mannitol salt agar. the isolate was subjected to Nd: YAG laser in different power (400mJ, 500mJ, 800mJ and 900mJ). In general the laser showed effect on bacterial growth that reach to complete killing, the statistical analysis showed that there is weak correlation between laser at 400mJ with killed percentage. While in 500mJ its exhibit complete correlation with killing percentage, this correlation was decreased with increasing in power to 800mJ and 900Mj.

Publication Date
Sat Dec 30 2017
Journal Name
Al-khwarizmi Engineering Journal
Design & Implementation of High Switching & Low Phase Noise Frequency Synthesizer
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This research  describes the design & implementation of frequency synthesizer using single loop Phase lock loop with the following specifications: Frequency range (1.5 – 2.75) GHz,Step size (1 MHz), Switching time 36.4 µs, & phase noise @10 kHz = -92dBc & spurious -100 dBc

  The development in I.C. technology provide the simplicity in the design of frequency synthesizer because it implements the phase frequency detector(PFD) , prescalar &  reference divider in single chip. Therefore our system consists of  a single chip contains (low phase noise PFD, charge pump, prescalar  & reference divider), voltage controlled oscillator , loop filter & reference oscillator. The single chip

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Publication Date
Fri Mar 31 2017
Journal Name
Al-khwarizmi Engineering Journal
Mechanical Properties Investigation of Composite Material Under Different Parameters Variations
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         The main objective of this research is to design and select a composite plate to be used in fabricating wing skins of light unman air vehicle (UAV). The mechanical properties, weight and cost are the basis criteria of this selection. The fiber volume fraction, fillers and type of fiber with three levels for each were considered to optimize the composite plate selection. Finite element method was used to investigate the stress distribution on the wing at cruise flight condition in addition to estimate the maximum stress. An experiments plan has been designed to get the data on the basis of Taguchi technique. The most effective parameters at the process to be find out by employing L9

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Publication Date
Sun Mar 01 2015
Journal Name
Journal Of Engineering
Experimental Study of Interior Temperature Distribution Inside Parked Automobile Cabin
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Temperature inside the vehicle cabin is very important to provide comfortable conditions to the car passengers. Temperature inside the cabin will be increased, when the car is left or parked directly under the sunlight. Experimental studies were performed in Baghdad, Iraq (33.3 oN, 44.4 oE) to investigate the effects of solar radiation on car cabin components (dashboard, steering wheel, seat, and inside air). The test vehicle was oriented to face south to ensure maximum (thermal) sun load on the front windscreen. Six different parking conditions were investigated. A suggested car cover was examined experimentally. The measurements were recorded for clear sky summer days started at 8 A.M. till 5 P.M.

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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
Liquid-Liquid Extraction of Metal Ions Using Aqueous Biphasic Systems
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An investigation was conducted for the study of extraction of metal ions using aqueous biphasic systems. The extraction of iron, zinc and copper from aqueous sulphate media at different kinds of extractants SCN− , Cl- and I- , different values of pH of the feed solution, phase ratio, concentration of metals, concentration of extractant, concentration of polymer, and concentration of salt was investigated. Atomic absorption spectrophotometer was used to measure the concentration of iron, zinc and copper in the aqueous phase throughout the experiments. The results of the extraction experiments showed the use of SCN− as extractant, pH=2.5, phase ratio=1.5, concentration of metals 1g/l, concentration of extractant 0.06 %, concentration o

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Publication Date
Sat Dec 17 2022
Journal Name
Scientometrics
Implementation of a new research indicator to QS ranking system
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Publication Date
Wed Sep 15 2021
Journal Name
Al-academy
Space Interpretation of the Installation Art: رائد عبد الامير منصور
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The research dealt with the study (interpretation of space in the art of installation), and it is located in four frameworks, the first is devoted to clarifying the research problem, its importance and the need for it, its goal, and its limits, and determining the most important terms contained therein.The research problem was determined from the question, does space embody those different and diverse materials that were formulated and installed by the artist into modern forms? Is the product of synthetic arts an appropriation of these spaces and domination of them?The problematic of interpreting space in its conceptual dimension in (synthetic) art in its multiplicity, diversity and difference, or objecting to the work of artistic system

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Publication Date
Thu Mar 12 2020
Journal Name
Al-khwarizmi Engineering Journal
The Influence of ProcessVariables for MillingSculptured Surfaces on Surface Roughness
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Increasing the variety of products that are being designed with sculptured surfaces, efficient machining of these surfaces has become more important in many manufacturing industries. The objective of the present work is the investigation of milling parameters for the sculptured surfacesthat effecting of surface roughness during machining of Al-alloy. The machining operation implemented on C-TEK CNC milling machine. The influence of the selected variables on the chosen characteristics have been accomplished using Taguchi design approach, also ANOVA had been utilized to evaluate the contributionsof each parameter on proc

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Publication Date
Tue Apr 30 2024
Journal Name
International Journal On Technical And Physical Problems Of Engineering
Deep Learning Techniques For Skull Stripping of Brain MR Images
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Deep Learning Techniques For Skull Stripping of Brain MR Images

Scopus (2)
Scopus
Publication Date
Sun Mar 01 2009
Journal Name
Al-khwarizmi Engineering Journal
Multidimensional Systolic Arrays of LMS Algorithm Adaptive (FIR) Digital Filters
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A multidimensional systolic arrays realization of LMS algorithm by a method of mapping regular algorithm onto processor array, are designed. They are based on appropriately selected 1-D systolic array filter that depends on the inner product sum systolic implementation. Various arrays may be derived that exhibit a regular arrangement of the cells (processors) and local interconnection pattern, which are important for VLSI implementation. It reduces latency time and increases the throughput rate in comparison to classical 1-D systolic arrays. The 3-D multilayered array consists of 2-D layers, which are connected with each other only by edges. Such arrays for LMS-based adaptive (FIR) filter may be opposed the fundamental requirements of fa

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