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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 Apr 01 2025
Journal Name
Sustainable Materials And Technologies
Current developments in the use of nanotechnology to enhance the generation of sustainable bioenergy
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Publication Date
Tue Sep 21 2021
Journal Name
Jmerd
stress and strain analysis for the prosthetic hand design actuated by links
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Prosthetic hands are compensatory devices for the hand amputees as a result of injury, various accidents or birth deformities, types of prosthetic hand vary depending on the mechanism they operate and how they perform. There are common types in use that are characterized by their complex mechanisms, which are difficult for the amputee to use or exclude use because of their high cost, therefore the aim of this research is to design an artificial hand that is suitable in terms of simplicity of use and low cost and similar to a natural hand with regard to dimensions and shape that operated in the mechanism of links. This research involves Stress and strain analysis of the prosthetic hand and its fingers that modelled from (Petg CR)

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Publication Date
Fri Jun 20 2025
Journal Name
Bulletin Of The Iraq Natural History Museum
A NEW RECORD OF TWO NEMATODES, MESORHABDITISFRANSENI FUCHS, 1933 (MESORHABDITIDAE) AND PRATYLENCHUSGOODEYI SHER AND ALLEN, 1953 (PRATYLENCHIDAE) WITH MOLECULAR DESCRIPTION FROM IRAQ
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rhabditid Mesorhabditis franseni Fuchs, 1933 (Family, Mesorhabditidae) and pratylenchid nematode Pratylenchus goodeyi Sher and Allen, 1953 (Family, Pratylenchidae). They were illustrated by molecular aspects. All specimens of both genera were cultured and reproduced for DNA extraction. M. franseni (IRQ.ZAh2 PP528819.1 isolate) was characterized. P. goodeyi (IRQ.ZAh5 PP535537 isolate) was also characterized. Selected specimens of these two species were molecularly characterized using the partial ITS-rRNA gene sequences. The ITS-rRNA sequence of IRQ.ZAh2 PP528819.1 isolate had a range of (98.62%-100%) sequence homology with ITS-rRNA sequence of M. franseni available in NCBI database. While, the ITS-rRNA sequence of IRQ.ZAh5 PP535537 isolate h

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Publication Date
Tue Mar 01 2022
Journal Name
Journal Of Osseointegration & Oral Rehablitation
Evaluation of marginal bone loss around SLActive implants by CBCT using different implant dimensions and surgical approaches: A clinical and radiological prospective study
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Aim: The reduction in the amount of marginal bone is the most important demand for the long term success of dental implants. This prospective clinical study was aimed to investigate the marginal bone loss of early loaded SLActive implants with different dimensions and surgical approaches. Materials and methods Fifteen patients aged from 18 to 60 years were divided into 2 groups (flapped and flapless approach) that underwent delayed implant placement protocol with SLActive implants. The marginal bone level was estimated by cone-beam computed tomography during three different periods: preoperatively, 8 weeks after surgery and 24 weeks after loading of the prosthesis. Results: The mean value of marginal bone level was not significantly chan

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Publication Date
Fri Jan 05 2024
Journal Name
Oral Diseases
E-cadherin and TAC in GCF accurately discriminate periodontal health and disease
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Objective To investigate the accuracy of gingival crevicular fluid (GCF) E-cadherin and total antioxidant capacity (TAC) to discriminate periodontal health from disease. Subjects and Methods GCF samples were collected from participants with periodontal health (control), gingivitis, and periodontitis (n = 25 each group). The latter group was further subdivided according to stage (S) and grade. Periodontal parameters were recorded then levels of biomarkers were assayed using ELISA and antioxidant status by use of the Total Antioxidant Capacity Assay for E-cadherin and TAC, respectively. Results All periodontal parameters were significantly higher in periodontally diseased groups than controls. The GCF E-cadherin significantly increased

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Publication Date
Thu Mar 01 2012
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Risk Analysis in Group Life Insurance: An Applied Research in the General Iraqi Insurance Company
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Insurance actions has become a task of the vital foundations on    which the international economy depends, where its presence helped in the development of economic resources in which human resource is considered the most important of these resources. Insurance companies play the biggest role in protecting this resource and minimizing the impact of the dangers that verify this condition.Human has worked hard to get rid of the dangers and its harm, and to devise many ways to prevent them. A risk management is considered within human’s creations in order to create a society with fewer negative risks impacts.

                On this basis, th

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Ecology
Horizontal variability of some soil properties in wasit governorate by using time series analysis
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Publication Date
Mon Oct 02 2023
Journal Name
History Of Medicine
Chemical and Molecular Physics in Perspective Quantum Mechanics is alternative of Quantum Classical Mechanics
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Abstract The concept of quantum transition is based on the completion of a succession of time dependent (TD) perturbation theories in Quantum mechanics (QM). The kinetics of "quantum" transition, which are dictated by the coupled motions of a lightweight electrons and very massive nuclei, are inherent by nature in chemical and molecular physics, and the sequence of TD perturbation theory become unique. The first way involved adding an additional assumption into molecule quantum theory in the shape of the Franck-Condon rule, which use the isothermal approach. The author developed the second strategy, which involved injecting chaos to dampen the unique dynamically of the bonding movement of electrons and nuclei in the intermediary state of

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Publication Date
Wed Mar 05 2025
Journal Name
Iraqi Journal Of Biotechnology,
Molecular Detection of Esp and Ace Genes in Enterococcus faecalis Isolated from Endodontic Infections
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Enterococcus faecalis is a natural inhabitant of the human gastrointestinal tract but can become dominant and cause infections when the intestinal homeostasis is disrupted. Enterococcal bacteria are considered one of the main reasons for the failure of endodontic treatment. This study aim to isolation and identification of E.faecalis depended on phenotype and molecular method, the phenotypic patterns using traditional biochemical methods, and then diagnosed it based on the genotypes and using specialized primers for 16srRNA and D-Ala: D-Ala ligase genes using polymerase chain reaction, In order to achieve successful treatment, it is necessary to study the bacterial behavior within the root canal system together with their resistance and def

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Publication Date
Wed May 22 2024
Journal Name
Clinics And Practice
Efficacy of Non-Surgical Periodontal Therapy with Adjunctive Methylene Blue and Toluidine Blue O Mediated Photodynamic in Treatment of Periodontitis: A Randomized Clinical Trial
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Background: This study aimed to examine the efficacy of methylene blue (MB) and toluidine blue O (TBO) photodynamic therapy (PDT) as adjuncts to root surface debridement (RSD). Methods: This split-mouth, randomized, controlled clinical trial included eighteen patients, and a total of 332 sites (control = 102, MB = 124 and TBO = 106) were examined. Two sessions of PDT were completed at baseline and two weeks after RSD. Clinical parameters of bleeding on probing (BOP), plaque index (PI), probing pocket depth (PPD), and clinical attachment level (CAL) were measured pre- and post-treatment. Results: PPD and BOP reductions in sites treated by RSD with adjunctive photosensitizers (MB and TBO) were significantly higher than in control site

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