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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 Dec 01 2020
Journal Name
Baghdad Science Journal
Detection of Suicidal Ideation on Twitter using Machine Learning & Ensemble Approaches
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Suicidal ideation is one of the most severe mental health issues faced by people all over the world. There are various risk factors involved that can lead to suicide. The most common & critical risk factors among them are depression, anxiety, social isolation and hopelessness. Early detection of these risk factors can help in preventing or reducing the number of suicides. Online social networking platforms like Twitter, Redditt and Facebook are becoming a new way for the people to express themselves freely without worrying about social stigma. This paper presents a methodology and experimentation using social media as a tool to analyse the suicidal ideation in a better way, thus helping in preventing the chances of being the victim o

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Publication Date
Mon Jul 01 2019
Journal Name
Iop Conference Series: Materials Science And Engineering
On Estimation of the Stress – Strength Reliability Based on Lomax Distribution
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Abstract<p>The present paper concerns with the problem of estimating the reliability system in the stress – strength model under the consideration non identical and independent of stress and strength and follows Lomax Distribution. Various shrinkage estimation methods were employed in this context depend on Maximum likelihood, Moment Method and shrinkage weight factors based on Monte Carlo Simulation. Comparisons among the suggested estimation methods have been made using the mean absolute percentage error criteria depend on MATLAB program.</p>
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Publication Date
Wed Mar 23 2022
Journal Name
Modern Sport
Using Artificial intelligence to evaluate skill performance of some karate skills
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Human beings are starting to benefit from the technology revolution that witness in our time. Where most researchers are trying to apply modern sciences in different areas of life to catch up on the benefits of these technologies. The field of artificial intelligence is one of the sciences that simulate the human mind, and its applications have invaded human life. The sports field is one of the areas that artificial intelligence has been introduced. In this paper, artificial intelligence technology Fast-DTW (Fast-Dynamic Time Warping) algorithm was used to assess the skill performance of some karate skills. The results were shown that the percentage of improvement in the skill performance of Mai Geri is 100%.

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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Engineering
Manufacture of Load Bearing Concrete Masonry Units Using Waste Demolishing Material
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The presence of construction wastes such as clay bricks, glass, wood, plastic, and others in large quantities causes serious environmental problems in the world. Where these wastes can be used to preserve the natural resources used in construction and reduce the impact of this problem on the environment, it also works to reduce the problem of high loads of concrete blocks. Clay bricks aggregate (AB) can be recycled as coarse aggregate and replaced with volumetric proportions of coarse aggregate by ( 5% and 10%), as well as the use of clay brick powder (PB) by replacing its weight of cement (5% and 10%) and reduced in the manufacture of concrete blocks (blocks). Four mixtures will be prepared and tested to learn how to re

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Publication Date
Thu Sep 01 2022
Journal Name
Journal Of Engineering
Properties of Roller-Compacted Concrete Pavement Containing Different Waste Material Fillers
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Waste materials might be utilized in various applications, such as sustainable roller compacted concrete pavements (RCCP), to lessen the negative environmental consequences of construction waste. The impacts of utilizing (brick, thermostone, granite, and ceramic) powders on the mechanical characteristics of RCCP are investigated in this study. To achieve this, the waste materials were crushed, grounded, and blended before being utilized as filler in the RCCP. After the mixes were prepared, compressive strength, splitting tensile strength, flexural strength, water absorption, density, and porosity were all determined. According to the research results, adding some of these powders, mainly brick and granite powder, enhances the mechanical

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Publication Date
Fri Nov 13 2020
Journal Name
Mechanics Of Advanced Materials And Structures
Enhancing the strength of reinforced concrete columns using steel embedded tubes
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This paper demonstrates an experimental and numerical study on the behavior of reinforced concrete (RC) columns with longitudinal steel embedded tubes positioned at the center of the column cross-section. A total of 12 pin-ended square sectional columns of 150 × 150 mm having a total height of 1400 mm were investigated. The considered variables were the steel tube diameters of 29, 58, and 76 mm and the load eccentricity (0, 50, and 150) mm. Accordingly, these columns were divided into three groups (four columns in each group) depending on the load eccentricity (e) to column depth (h) ratio (e/h = 0, 1/3, and 1). For each group, one column was solid (reference), and the other three columns contained steel tubes with hollow rat

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Publication Date
Sat Oct 20 2018
Journal Name
Journal Of Economics And Administrative Sciences
The effect of The Organizational Agility On High Performance ( Applied Search )
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Abstract

The current research aims to know  the  reality of the  research's coefficients, to know  correlation and effectiveness  between  the  organizational  Agility  and high performance . The current research  has been applied on  the official banks , including  a sample of  senior administration  members  (120) ; besides , the research has used questionnaire  that being considered as the main tool for gathering  information  and data . It includes  59 questions  in addition to  the personal interviews  program  as to support  the questionnaire and to fulfill a great deal of reality. It has been anal

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Publication Date
Wed Jan 02 2019
Journal Name
Pramana
The description of quantum dielectric function for insulators over Bethe surface
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Publication Date
Wed Dec 30 2020
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Elimination of Congo Red Dyes From Aqueous Solution Using Eichhornia Crassipes
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   Water hyacinth (Eichhornia crassipes) is a free-floating plant, growing plentifully in the tropical water bodies. It is being speculated that the large biomass can be used in wastewater treatment, heavy steel and dye remediation, as a substrate for bioethanol and biogas production, electrical energy generation, industrial uses, human food and antioxidants, medicines, feed, agriculture, and sustainable improvement. In this work, the adsorption of Congo Red (CR) from aqueous solution onto EC biomass was investigated through a series of batch experiments. The effects of operating parameters such as pH (3-9), dosage (0.1-0.9 g. /100 ml), agitated velocity (100-300), size particle (88-353μm), temperature (10-50˚C), initial dye

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Publication Date
Thu Dec 04 2025
Journal Name
Journal Of Nature And Science Of Medicine
Impact of Patients’ Education upon Reducing Psychological Distress during Diabetic Journey
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Abstract<sec> <title>Background and Objectives:

Diabetes distress (DD), an emotional burden that does not meet the diagnostic criteria for major depressive disorder, has gained attention in the diabetes literature. It was to evaluate the impact of diabetes education among psychological distress in type 2 diabetes patients.

Materials and Methods:

A cross-sectional study was conducted between November 1, 2024, and March 1, 2025, at the Endocrine and diabetes center in Baghdad City, Iraq, tar

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