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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.

Scopus
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Publication Date
Mon Apr 24 2023
Journal Name
Materials Research Innovations
Surface modification of poly(methyl methacrylate)-sulphadiazine complexes as self photostabilizer against Ultraviolet (UV) Irradiation
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Publication Date
Sun Apr 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Bayes Estimators for the Parameter of the Inverted Exponential Distribution Under different Double informative priors
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In this paper, we present a comparison of double informative priors which are assumed for the parameter of inverted exponential distribution.To estimate the parameter of inverted exponential distribution by using Bayes estimation ,will be  used two different kind of information in the Bayes estimation; two different priors have been selected for the parameter of inverted exponential distribution. Also assumed Chi-squared - Gamma distribution, Chi-squared - Erlang distribution, and- Gamma- Erlang distribution as double priors. The results are the derivations of these estimators under the squared error loss function with three different double priors.

Additionally Maximum likelihood estimation method

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Crossref
Publication Date
Sat Feb 09 2019
Journal Name
Journal Of The College Of Education For Women
Optical Design of Laser Zoom Beam Expander at near & far Ranges for Tracked Atmospheric Target
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In this research, beam expander, BEX, is explained and designed for illuminating the
remote flying target. The BEX is optically designed to be suited for Nd:YAG laser of given
specifications. The BEX is modified to be zoom one to meet the conditions of preventing the
receiving unit; i.e the photodetector, from getting saturated at near and far laser tracking.
Decollimation could be achieved by automatic motor, which controls zoom lens of the BEX
according to the required expansion ratio of beam expander

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Publication Date
Mon Apr 23 2018
Journal Name
Ibn Al- Haitham Journal For Pure And Applied Science
Performance of Strelitzia reginae Flowers Dye as Sensitizer for New Dye-Sensitized Solar Cell Fabrication
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        In current study, the dye from flowers petals of Strelitzia reginae used for the first time to prepare natural photosensitizer for DSSC fabrication. Among five different solvents used to extract the natural dye from S. reginae flowers, the ethanol extract of anthocyanin dye revealed higher absorption spectrum of 0.757a.u. at wavelength of 454nm.  A major effect of temperature was studied to increase the extraction yield. The results show that the optimal temperature was 70 °C and there was a sharp decrease of dye concentration from 0.827 at temperature of 70 °C to 0.521 at temperature of 90°C. The extract solution of flowers of S. reginae showed higher concentration in acidic media, especially at pH 4 (0.902). The

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Crossref
Publication Date
Fri Aug 02 2019
Journal Name
The Fifth Conference On Smart Monitoring, Assessment And Rehabilitation Of Civil Structures Smar 2019
Rehabilitation of Mohammed Al-Qassim Bridge after Fire Attack Using CFRP Sheets: A Case Study
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Publication Date
Wed Jan 01 2014
Journal Name
Babylon University Journal\applied Pure Sciences
Detection of the perfect condition to produce the tannase from Aspergillus niger at different medium
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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
The evaluation a proposed strategy for the Ministry of Planning for the years 2018-2022 .
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abstract

the research discussed a stage of strategic management. The strategic of the evaluation of the proposed strategy through feedback is to ensure that it is implemented with the least possible variation. The research aims at evaluation  a proposed strategy for the Ministry of Planning for the years 2018-2022 in line with the orientations of the state, taking into account the surrounding environmental conditions. It relies on scientific bases and steps to formulate the strategy The extent of the strategy suitability was tested through a set of statistical means and its objectivity was verified through a survey of a number of specialized experts who were selected in accordance with the principle

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Crossref
Publication Date
Mon Jan 01 2024
Journal Name
Communications In Computer And Information Science
Enhancing the Performance of Wireless Body Area Network Routing Protocols Based on Collaboratively Evaluated Values
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Wireless Body Area Sensor Network (WBASN) is gaining significant attention due to its applications in smart health offering cost-effective, efficient, ubiquitous, and unobtrusive telemedicine. WBASNs face challenges including interference, Quality of Service, transmit power, and resource constraints. Recognizing these challenges, this paper presents an energy and Quality of Service-aware routing algorithm. The proposed algorithm is based on each node's Collaboratively Evaluated Value (CEV) to select the most suitable cluster head (CH). The Collaborative Value (CV) is derived from three factors, the node's residual energy, the distance vector between nodes and personal device, and the sensor's density in each CH. The CEV algorithm operates i

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Scopus Crossref
Publication Date
Thu May 13 2021
Journal Name
International Journal Of Development In Social Science And Humanities
The Impact of Teachers using Storytelling Techniques through Virtual Instruction to Increase English Speaking Ability
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DBN Rashid, INTERNATIONAL JOURNAL OF DEVELOPMENT IN SOCIAL SCIENCE AND HUMANITIES, 2021

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Publication Date
Wed Dec 12 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Screening Program for Urinary Tract Infection of Prepubertal Children at Al Nasiriya City Primary Schools
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Objective(s): The study aims Finding relationship between UTI and demographic variable include: child's age, child's gender, if males are circumcised or not, child's order in his family, father's level of education, mother's level of education, place of residence and family socioeconomic status. Methodology: A descriptive study was conducted on students of primary schools for both sexes, for the period from 19th. February 2014 through to 4th March 2014. A selected sample from two steps the first stage is to choose a school by a stratified- cluster sample, getting schools that have been selected (12) sch

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