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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
Wed Jul 04 2012
Journal Name
J Bagh College Dentistry
Azithomycin as an adjunctive to non-surgical treatment in comparison with doxycycline in chronic periodontitis patients: 2-months randomized clinical trial
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Publication Date
Mon Sep 01 2003
Journal Name
Iraqi Journal Of Tropical Disease Researches
The isolation and identification of some pathogenic bacteria from clinical cutaneous infection in human
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Publication Date
Sun Dec 09 2018
Journal Name
Baghdad Science Journal
Detection of Pseudomonas aeruginosa in Clinical Samples Using PCR Targeting ETA and gyrB Genes
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Pseudomonas aeruginosa has variety of virulence factors that contribute to its pathogenicity. Therefore, rapid detection with high accuracy and specificity is very important in the control of this pathogenic bacterium. To evaluate the accuracy and specificity of Polymerase Chain Reaction (PCR) assay, ETA and gyrB genes were targeted to detect pathogenic strains of P. aeruginosa. Seventy swab samples were taken from patients with infected wounds and burns in two hospitals in Erbil and Koya cities in Iraq. The isolates were traditionally identified using phenotypic methods, and DNA was extracted from the positive samples, to apply PCR using the species specific primers targeting ETA, the gene encoding for exotoxin A, and gyrB gene. The res

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Publication Date
Thu Feb 19 2026
Journal Name
International Journal Of Surgery Open
Secondary trigeminal neuralgia: an in-depth review of etiopathology, clinical manifestations, and management approaches
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Secondary trigeminal neuralgia (STN) results from an identifiable underlying pathology, including tumor compression, multiple sclerosis, arteriovenous malformations, hypertension, structural lesions, inflammation, trauma, or familial genetic conditions. This study, through a comprehensive review of the literature in PubMed, Google Scholar, Web of Science, and the Cochrane Library, explores the multifaceted aspects of STN. This study delves into the diverse etiological factors, focusing on the pathophysiological mechanisms that lead to trigeminal nerve dysfunction. The clinical manifestations of STN often overlap with those of primary trigeminal neuralgia, creating diagnostic challenges and necessitating a thorough evaluation that in

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Publication Date
Fri May 03 2024
Journal Name
Doklady Biochemistry And Biophysics
Superoxide Dismutase and Clopidogrel: A Potential Role in Peripheral Arterial Disease Treatment
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Oxidative stress plays a crucial role in the pathogenesis of peripheral artery disease (PAD). This study aimed to investigate the effect of clopidogrel on oxidative stress in PAD patients. Seventy subjects were divided into three groups: PAD patients before treatment (B-PAD), PAD patients after treatment with clopidogrel (A-PAD), and healthy controls. Serum levels of superoxide dismutase (SOD), copper (Cu), zinc (Zn), manganese (Mn), and oxidized protein were measured. SOD activities were also determined. The results showed that SOD activities, and SOD specific activities were significantly decreased in PAD patients compared to healthy individuals. After treatment with clopidogrel, SOD activities, and SOD specific activities were continuous

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Engineering
Prediction of Municipal Solid Waste Generation Models Using Artificial Neural Network in Baghdad city, Iraq
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The importance of Baghdad city as the capital of Iraq and the center of the attention of delegations because of its long history is essential to preserve its environment. This is achieved through the integrated management of municipal solid waste since this is only possible by knowing the quantities produced by the population on a daily basis. This study focused to predicate the amount of municipal solid waste generated in Karkh and Rusafa separately, in addition to the quantity produced in Baghdad, using IBM SPSS 23 software. Results that showed the average generation rates of domestic solid waste in Rusafa side was higher than that of Al-Karkh side because Rusafa side has higher population density than Al-Karkh side. T

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Publication Date
Sat Dec 24 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Prevalence of AGER gene polymorphism in post menopause Iraqi sample with Osteoporosis and osteopenia in type 2DM
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Osteoporosis (OP)is one of the most important metabolic disorder also affected by interaction of genetic and environmental factors by almost 70% and 30% respectively. Genetic components are identified to strongly effect bone mineral density, bone building and turnover, so they play an important role in determining risk of OP and fragility fractures. This study consists of patient and control group; Group A: (70) postmenopausal women with OP and osteopenia, Group B: (20) control group.  five milliliters of blood sample were divided into three tubes; one tube (1ml) contain gel for obtain serum to measure glucose level, the others tubes containing ethylene-diamine-tetra-acetic acid (EDTA), in 2 tube 2ml stored in deep freeze at (–40

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Publication Date
Mon Jan 01 2024
Journal Name
Global Heart
Challenges in Clinical Research in Low and Middle Income Countries: Early Career Cardiologists’ Perspective
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Publication Date
Sat Oct 01 2016
Journal Name
I-manager’s Journal On Communication Engineering And Systems
SOLVING NETWORK CONGESTION PROBLEM BY QUALITY OF SERVICE ANALYSIS USING OPNET
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Among many problems that reduced the performance of the network, especially Wide Area Network, congestion is one of these, which is caused when traffic request reaches or exceeds the available capacity of a route, resulting in blocking and less throughput per unit time. Congestion management attributes try to manage such cases. The work presented in this paper deals with an important issue that is the Quality of Service (QoS) techniques. QoS is the combination effect on service level, which locates the user's degree of contentment of the service. In this paper, packet schedulers (FIFO, WFQ, CQ and PQ) were implemented and evaluated under different applications with different priorities. The results show that WFQ scheduler gives acceptable r

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Publication Date
Thu Oct 01 2020
Journal Name
Biochemical And Cellular Archives
QUANTITATIVE ANALYSIS OF SOME AROMATIC AMINO ACIDS BY SPECTROPHOTOMETRIC MATHEMATICAL DERIVATIZATION
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A simple UV spectrophotometric differential derivatization method was performed for the simultaneous quantification of three aromatic amino acids of tryptophan, the polar tyrosine and phenylalanine TRP, TYR and PHE respectively. The avoidance of the time and reagents consuming steps of sample preparation or analyze separation from its bulk of interferences made the approach environmentally benign, sustainable and green. The linear calibration curves of differential second derivative were built at the optimum wavelength for each analyze (218.9, 236.1 and 222.5 nm) for PHE, TRP and TYR respectively. Quantification for each analyze was in the concentration range of (1.0– 45, 0.1–20.0 and 1.0– 50.0 μg/ml) at replicates of (n=3) with a re

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