Preferred Language
Articles
/
g-ZKdZwBmraWrQ4dl0o4
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
...Show More Authors

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
View Publication
Publication Date
Sun Feb 21 2016
Journal Name
Iraqi Journal Of Biotechnology,
Anti-Fungal Activity of Maleamic Acid Derivativesagainst Some Pathogenic Fungi
...Show More Authors

Publication Date
Tue Mar 01 2016
Journal Name
Applied Research Journal
Response of R.C. Barriers Subjected to TNT Explosion Blast Loading
...Show More Authors

Reinforced concrete barriers have been commonly used in protecting the important building because the response of R.C. barriers subjected to blast loading is practically more acceptable than other materials used to build the barriers. In this study, the response of R.C. barriers was detected due to the blast effects caused by two charge weights (50 kg and 400 kg); ANSYS 14 was used to simulate the problem. A horizontal distance of 2 m between the explosive TNT charge and the front face of wall was taken. The pressure on the front face of the concrete barriers was measured at three levels. The R.C. barrier was entirely damaged when subjected to the blast effects caused by 400 kg TNT explosion bomb. However, the 50 kg TNT charge had

... Show More
Publication Date
Sun May 21 2023
Journal Name
Journal Of Namibian Studies : History Politics Culture
The role of cleaner production costs to reducing failure costs
...Show More Authors

Economic units can benefit from the cleaner production strategy, which aims to reduce the environmental impact of economic activities while improving efficiency and profitability. Accordingly, the aim of the research was to clarify the knowledge foundations of cleaner production costs and to indicate their role in reducing the costs of poor quality (the costs of failure). A set of conclusions has been reached, the most important of which is that cleaner production has achieved a reduction in the costs of external failure, represented by the costs of guarantee, by an amount of 12,339,000 dinars. Contributes to reducing the costs of failure, and based on the conclusions, a set of recommendations were presented, the most important of w

... Show More
View Publication Preview PDF
Crossref (3)
Crossref
Publication Date
Thu Oct 01 2020
Journal Name
Palarch's Journal Of Archaeology Of Egypt / Egyptology
THE JUDICAL BASIS FOR THE BRANCHING OUT OF CONSTITUTIONAL RIGHT
...Show More Authors

The bifurcation of the constitutional rights of one of the techniques used by the constitutional court to expand the scope of the constitutional right to explicit, and access to the fact that guarantees constitutional rights, and establishes the constitutional elimination of this technique on a particular bond is the constitutional terms of reference, and in the light of his discretion in the exercise of the constitutional powers of , and tends at times To the adoption of a broad branching approach, which confers on the constitutional text containing constitutional rights a wider scope than the scope of an explicit right.

View Publication
Publication Date
Tue Aug 01 2017
Journal Name
International Journal Of Science And Research
Surface properties of different heat treated titanium alloy dental implants
...Show More Authors

Titanium alloy surface properties have an essential role in the interaction of dental implants with bone, and alteration of the surface of the implant could improve osseointegration. This study was designed to investigate the effect of different heat treatment temperatures on titanium alloy surface properties for dental implants. The effect of different temperatures of heat treatment (750°C, 850°C, 950°C and 1050°C) were investigated on the surface topography, surface chemistry, titanium oxide layer thickness, blood contact angle, & blood drop diameter of titanium alloy. The disks were prepared from titanium alloy (Ti-6Al-4V) and the samples were divided into five groups depending on the different temperatures of heat treatment. The hea

... Show More
Preview PDF
Publication Date
Thu Jun 16 2022
Journal Name
Clean Technologies
Performance Evaluation of Roughened Solar Air Heaters for Stretched Parameters
...Show More Authors

Crossref (5)
Crossref
Publication Date
Mon Jul 01 2019
Journal Name
Applied Mathematical Modelling
Potential flow of fluid from an elevated, two-dimensional source
...Show More Authors

View Publication
Crossref (1)
Crossref
Publication Date
Sat Apr 11 2009
Journal Name
Journal Of Kerbala University
Evaluation The Behaviour of Reinforced Loose Sand under Inclined Loading
...Show More Authors

Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Effect of Silver Oxide Film Thickness on Some Optical Parameter
...Show More Authors

Films of silver oxide of different thickness have been prepared by the chemical spray paralysis. Transmission and absorption spectra have recorded in order to study the effect of increasing thickness on some optical parameter such as reflectance, refractive index , and dielectric constant in its two parts . This study reveals that all these paramters affect by increasing the thickness .

View Publication Preview PDF
Crossref
Publication Date
Thu Dec 31 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Measuring the Impact of Commitment to Apply Banking Governance Mechanisms
...Show More Authors

This research aims to measure the impact of applying bank governance mechanisms in reducing the financial risks of banks listed on the Palestine Stock Exchange, and to answer research questions and test hypotheses for the study, researchers adopted the descriptive and analytical approach, and data were collected from the annual financial reports of the banks listed on the Palestine Exchange during the period between (2009-2018), as a time series for the purpose of finding, analyzing and measuring the effect between the study variables during this period by (60) views for each of the study variables, using the statistical analysis program views(9) to enter, process and analyze the data. The results of the study proved that there i

... Show More
View Publication Preview PDF