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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
Mon Apr 01 2019
Journal Name
Biochem. Cell. Arch
Association Of – 1195a/g Single Nucleotide Polymorphism Of Cyclooxygenase-2 Gene With The Severity Of Chronic Periodontitis In An Iraqi Population
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Chronic periodontitis (CP) is an inflammatory disease affecting tooth supporting structures in response to bacterial dental plaque causing irreversible tissue destruction. Cyclooxygenase-2 (COX-2) is an effective mediator in the pathogenesis of periodontitis. Polymorphisms in the COX-2 gene may contribute to its overexpression and increased disease susceptibility. To evaluate the association between -1195 A/G single nucleotide polymorphism (SNP) in the promotor area of the cyclooxygenase-2(COX-2) gene and severity of chronic periodontitis in a sample of Iraqi population. -1195A/ G COX-2 SNP was investigated in 70 chronic periodontitis (CP) cases and 30 healthy controls. CP cases composed of 2 subgroups (35 moderate CP cases and 35 severe CP

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Publication Date
Sat Oct 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Practice of Continuous Auditing in accordance with Technology Acceptance Model: An analytical study of a sample of the Iraqi auditing Offices
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Abstract

This paper discusses the essence of the developmental process in auditing firms and offices at the world today. This process is focused on how to adopt the audit concepts which is based on Information and Communication Technology (ICT), including the Continuous Auditing (CA) in particular. The purpose of this paper is to design a practical model for the adoption of CA and its requirements according to the Technology Acceptance Model (TAM). This model will serve as a road map for manage the change and development in the Iraqi auditing firms and offices. The paper uses the analytical approach in reaching to the target results. We design the logical and systematic relations between the nine variable

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Publication Date
Sun Jun 01 2014
Journal Name
Ibn Al-haitham Jour. For Pure & Appl. Sci.
Reducing False Notification in Identifying Malicious Application Programming Interface(API) to Detect Malwares Using Artificial Neural Network with Discriminant Analysis
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Publication Date
Tue Jan 01 2013
Journal Name
Advances In Physics Theories And Applications
Analysis and Assessment of Essential Toxic Heavy Metals, PH and EC in Ishaqi River and Adjacent Soil
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This research was conducted to determine content levels of heavy metal pollution. Samples taken from Ishaqi River bank and adjacent agricultural soils area, in ten sites, distributed along 48 km of the Ishaqi River, north Baghdad. The evaluated metals were Zinc, Copper, Manganese, Iron, Cobalt, Nickel, Chromium, Cadmium, Vanadium and Lead. PH and Electric Conductivity (EC) were measured to evaluate the acidity and (EC). Results showed that most site were contaminated with metals evaluated. Among these metals, Zn, Mn, Fe and Ni were consistently higher in all the samples (both river bank and adjacent soil) followed by PB, CU, V, Cd, Co and Cr. The level concentrations of river bank were almost higher than that of adjacent soil. As will be re

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of Rosuvastatin Effect as Adjuvant Therapy to Methotrexate on Lipid Profile and the Possibility of its Cardioprotective Effect in Iraqi Patients with Active Rheumatoid Arthritis
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Rheumatoid arthritis (RA) is a common inflammatory disease that associated with increased morbidity and mortality due to accelerated atherosclerosis. Rosuvastatin is a unique hydroxy methyl glutaryl Co A (HMGCoA) reductase inhibitor that has anti inflammatory effects.

The aim of this study was to evaluate the effect of rosuvastatin as adjuvant therapy to methotrexate (MTX) on lipid profile and its possible cardioprotective effect in RA patients. A double blinded placebo controlled clinical trial with 8 weeks follow up periods at which 40 patients with active RA using MTX were randomized into 2 groups to receive either rosuvastatin 10mg or placebo as adjuvant therapy to MTX. In addition to twenty healthy subjects as control group.

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Publication Date
Sat Jun 30 2012
Journal Name
The Iraqi Journal Of Veterinary Medicine
Conformation of the clinical diagnoses of some malnutrition diseases in local and Shammi goats in Baghdad province: Al-Shawi A.F.S .; Al-Sammarraie ,S.A.G.and Al-Judi Abdul,M.H.
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The relationship between the clinical singes and some of the hematological and biochemical values in 126 cases of local breed and Shammi breed goats (from both sexes) diagnosed as cases of malnutrition from 230 goats examined .The clinical examination include (beside the general inspection and case history) body temperature, respiratory and pulse rates, mucus membranes skin and coat. Examination of the blood samples included RBCs count, Hb concentration, PCV % and values of cupper, magnesium, phosphorus, and potassium. The results showed that the mean body temperature of these goats was lower than in normal goats, while the respiratory and pulse rates were higher .Examination of blood revealed decrease in the means of RBCs counts ,Hb con

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Publication Date
Tue Dec 16 2008
Journal Name
Journal Of Planner And Development
City of Baghdad Analysis of the mechanisms of economic action in the development and development
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The economy of a city has an important role not only in its establishment but also in its development. This is quite clear in the city of Baghdad throughout its history since its building in 762 A.D. In addition, most of its problems that the city is suffering from are basically related to not giving enough importance to the economic factors in the master planning of Baghdad since 1950’s. This may explain the failiars of master plans in dealing with the actual population growth and the city's inability to absorb such increases and interrelated and diverse activities which are negatively reflected on the economic variables particularly the effect on the land values, and the strong competitions amongst the land uses without previ

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Publication Date
Thu Sep 01 2022
Journal Name
Https://www.researchgate.net/journal/university-of-baghdad-engineering-journal-1726-4073
Hazard analysis in drinking water plant
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Source, sedimentation, coagulation, flocculation, filter, and tank are parts of a water treatment plant. As a result, some issues threaten the process and affect the drinking water quality, which is required to provide clean drinking water according to special standards and international and local specifications, determined by laboratory results from physical, chemical, and biological tests. In order to keep the water safe for drinking, it is necessary to analyze the risks and assess the pollution that occurs in every part of the plant. The method is carried out in a common way, which is monitoring through laboratory tests, and it is among the standards of the global and local health regulators

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Publication Date
Thu Sep 01 2022
Journal Name
Journal Of Engineering
Hazard analysis in drinking water plant
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Source, sedimentation, coagulation, flocculation, filter, and tank are parts of a water treatment plant. As a result, some issues threaten the process and affect the drinking water quality, which is required to provide clean drinking water according to special standards and international and local specifications, determined by laboratory results from physical, chemical, and biological tests. In order to keep the water safe for drinking, it is necessary to analyze the risks and assess the pollution that occurs in every part of the plant. The method is carried out in a common way, which is monitoring through laboratory tests, and it is among the standards of the global and local health regulators

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Publication Date
Sun Dec 19 2021
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
SURVEY OF INSECTS IN SOME SOUTHERN IRAQI MARSHES
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This study included a survey and review of the scientific names of the marsh insects (aquatic and surrounding it) for the purpose of unifying and updating the database.
The survey reveals 109 species under 77 genera that belong to 32 families and 7 orders as follow: Coleoptera (44 species), Diptera (7 species) Ephemeroptera (2 species), Hemiptera (14 species), Hymenoptera (11 species), Lepidoptera (2 species) and Odonata with 29 species.
Information of specimens' collection for each species, synonyms and geographical distribution were provided.

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