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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
Thu Feb 01 2024
Journal Name
Structures
Accelerating reliability analysis of deteriorated simply supported concrete beam with a newly developed approach: MCS, FORM and ANN
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Reliability analysis methods are used to evaluate the safety of reinforced concrete structures by evaluating the limit state function 𝑔(𝑋𝑖). For implicit limit state function and nonlinear analysis , an advanced reliability analysis methods are needed. Monte Carlo simulation (MCS) can be used in this case however, as the number of input variables increases, the time required for MCS also increases, making it a time consuming method especially for complex problems with implicit performance functions. In such cases, MCS-based FORM (First Order Reliability Method) and Artificial Neural Network-based FORM (ANN FORM) have been proposed as alternatives. However, it is important to note that both MCS-FORM and ANN-FORM can also be time-con

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Publication Date
Sat Mar 26 2022
Journal Name
Indian Journal Of Ecology
Assessment of Antimicrobial Resistance to Klebsiella pneumonia Isolated from Various Clinical Samples in Baghdad
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Klebsiella pneumoniae is a severe opportunistic strain of enteric bacteria that is a major cause of urinary tract infection and pneumonia. This study was conducted in Baghdad City during September 2020-November 2020 on 50 clinical samples of urine, vaginal, sputum, wound swabs, ear swabs, and burn swabs. strains were identified using the VITEK-2 compact system and tested in K. pneumoniae terms of susceptibility to various antimicrobial drugs by Kirby-Bauer test. The isolates were more predominant in the females (56%) compared to males (44%). The antibiotic resistance rate of varied among different isolated clinical sample sources. K. pneumoniae K. pneumoniae isolated from different clinical specimens differed with respect

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Publication Date
Mon Apr 01 2019
Journal Name
Journal Of Oral And Maxillofacial Surgery
Pain Reduction in Extensive Apical Surgery of the Anterior Maxilla: A Comparative Clinical Study
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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
12- months color stability of direct resin composite veneers in anterior teeth: Clinical trial
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Background: This clinical trial aims to evaluate the color changes of direct resin composite veneer (DCV) restorations based on spectrophotometric analysis of 4 different types of resin composites between the baseline immediately after polishing and after one year of follow-up. Materials and methods: 28 patients were assessed for eligibility for participation, aged between 18 and 38 years old, who indicated for DCV restorations in anterior maxillary teeth were considered for participation in this study. In total, 25 patients who met the inclusion criteria were selected (6 males and 19 females, mean age: 20.9 at the time of restoration placement), and 3 patients were excluded. Partic

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Nonlinear Analysis And Applications
Big data analysis by using one covariate at a time multiple testing (Ocmt) method: Early school dropout in iraq
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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Flow injection analysis for the photometric determination of promethazine-HCl in pure and pharmaceutical preparation via oxidation by persulphate using Ayah 3SX3-3D solar micro photometer
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The first flow injection spectrophotometric method is characterized by its speed and sensitivity which have been developed for the determination of promethazine-HCl in pure and pharmaceutical preparation. It is based on the in situ detection of colored cationic radicals formed via oxidation of the drug with sodium persulphate to pinkish-red species and the same species was determined by using homemade Ayah 3SX3-3D solar flow injection photometer. Optimum conditions were obtained by using the high intensive green light emitted diode as a source. Linear dynamic range for the absorbance versus promethazine-HCl concentration was 0-7 mmol.L-1, with the correlation coefficient (r) was 0.9904 while the percentage linearity (r2%) was 98.09%. the L.

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Publication Date
Tue Sep 01 2009
Journal Name
Journal Of Economics And Administrative Sciences
Test the impact of instability on the pattern of spending by the Iraqi consumer
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يحتل موضوع الاستهلاك اهمية كبيرة في الدراسات الاقتصادية في حالتي السلم والحرب وذلك لارتباط هذا الموضوع بالانسان والمجتمع ولكونه احد مؤشرات مستوى الرفاهية الاقتصادية والاجتماعية وتزداد اهمية ضبط حركة هذا المتغير السلوكي والكمي في زمن الحرب اكثر مما هو عليه في حالة السلم، في هذا البحث تم استخدام بيانات احصائية عن الانفاق الاستهلاكي الخاص ونصيب الفرد من الدخل القومي اضافة الى الرقم القياسي لاسعار المس

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Publication Date
Tue Jul 23 2024
Journal Name
Proceedings Of The Southwest State University. Series: Linguistics And Pedagogy
Acomparative Analysis of the Concept and Types of Homonyms in Russian and Arabic
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Purpose of research: The purpose of the article is to conduct a comparative analysis of the concept and types of puns in the Russian and Arabic languages. The main focus is on identifying similarities and differences in the definition of a pun, as well as analyzing its various types in both languages. The purpose of the study is to understand how puns are used to achieve comic or semantic effect in different cultural contexts.

Methods: The study includes an analysis of literature providing information about puns in Russian and Arabic. For comparative analysis, methods were used to compare concepts, definitions and types of puns in both languages. The phonetic, semantic and syntactic aspects of the pun are considered,

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Publication Date
Sun Dec 25 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Synthesis, Molecular Docking Study and Cytotoxicity Evaluation of some Quinazolinone Derivatives as Nonclassical Antifolates and Potential Cytotoxic Agents
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Abstract

A series of new 4(3H)-quinazolinone derivatives (S1-S4) were synthesized and characterized   by FTIR,1HNMR and 13CNMR .Their cytotoxic activity against a set of human cancer cell lines MCF-7 (breast) and A549 (lung) was evaluated using MTT assay. To detect their selectivity toward cancer cells, the compounds were also tested against epithelial cells derived from normal human fibroblast (NHF). Methotrexate (MTX) was used as a reference for comparison . All the tested compounds exhibited toxicity against the normal cells lower than cancer cells. All the tested compounds displayed higher cytotoxicity against lung cancer cell line (A549) than MTX with the most

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Publication Date
Sun Jul 17 2022
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Clinical Characteristics and Antibiotics Sensitivity of Culture Positive Typhoid Fever Patients in Baghdad Teaching Hospital - A Single Center Study
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BACKGROUND: Enteric fever caused by Salmonella Typhi is an endemic disease in Iraq. Variations in presentations make it a diagnostic challenge. If untreated or treated inappropriately then it is a serious disease with potentially life-threatening complications. The recent emergence of drug resistant strains of S. Typhi is a rising public health problem and a clinical concern to the physician. AIM: The objectives of the study were to assess and describe the patterns of antimicrobial resistance, clinical characteristics, epidemiological distribution, and complications of typhoid fever. PATIENTS AND METHODS: Fifty cases of typhoid fever (culture proven) were collected during the period from February 2019 to November 2019 in the me

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