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
Fri Sep 03 2021
Journal Name
Buildings
Structural Efficiency of Hollow Reinforced Concrete Beams Subjected to Partial Uniformly Distributed Loading
...Show More Authors

Reinforced concrete (RC) beams containing a longitudinal cavity have become an innovative development and advantage for economic purposes of light-weight members without largely affecting their resistance against the applied loads. This type of openings can also be used for maintenance purposes and usage space of communication lines, pipelines, etc. RC beams are primarily loaded in the plane of the members, which are two-dimensional in a plane stress state and the dominant structural behaviours include bending, shear, or combination of both. In the present study, six numerical models of RC beams with and without openings were simulated by using commercial finite element software ANSYS to evaluate the structural behaviours of those b

... Show More
View Publication
Scopus (19)
Crossref (16)
Scopus Clarivate Crossref
Publication Date
Sat Feb 01 2025
Journal Name
Civil Engineering Journal
On the Impact of Lacing Reinforcement Arrangement on Reinforced Concrete Deep Beams Performance
...Show More Authors

The optimum design is characterized by structural concrete components that can sustain loads well beyond the yielding stage. This is often accomplished by a fulfilled ductility index, which is greatly influenced by the arrangement of the shear reinforcement. The current study investigates the impact of the shear reinforcement arrangement on the structural response of the deep beams using a variety of parameters, including the type of shear reinforcement, the number of lacing bars, and the lacing arrangement pattern. It was found that lacing reinforcement, as opposed to vertical stirrups, enhanced the overall structural response of deep beams, as evidenced by test results showing increases in ultimate loads, yielding, and cracking of

... Show More
Scopus (3)
Crossref (1)
Scopus Clarivate Crossref
Publication Date
Thu Feb 01 2024
Journal Name
Heliyon
Removal of amoxicillin from contaminated water using modified bentonite as a reactive material
...Show More Authors

This study concerns the removal of a trihydrate antibiotic (Amoxicillin) from synthetically contaminated water by adsorption on modified bentonite. The bentonite was modified using hexadecyl trimethyl ammonium bromide (HTAB), which turned it from a hydrophilic to a hydrophobic material. The effects of different parameters were studied in batch experiments. These parameters were contact time, solution pH, agitation speed, initial concentration (C0) of the contaminant, and adsorbent dosage. Maximum removal of amoxicillin (93 %) was achieved at contact time = 240 min, pH = 10, agitation speed = 200 rpm, initial concentration = 30 ppm, and adsorbent dosage = 3 g bentonite per 1L of pollutant solution. The characterization of the adsorbent, modi

... Show More
View Publication
Scopus (28)
Crossref (28)
Scopus Clarivate Crossref
Publication Date
Sun Jun 01 2025
Journal Name
Iranian Journal Of Microbiology
Prevalence of Helicobacter pylori infection among dyspeptic patients attending Baghdad medical city complex
...Show More Authors

Background and Objectives: Dyspepsia is a disorder characterized by difficulty in digestion and represents a major health concern. Therefore, it is crucial to identify functional dyspepsia linked to Helicobacter pylori (H. pylori). This research aimed to determine the prevalence of H. pylori among patients with dyspepsia and to examine the potential risk factors associated with the infection. Materials and Methods: From August 14th to September 21st, 2024, a total of 105 patients with dyspepsia, who attended the Central Laboratory of Baghdad Medical City Complex (Iraq), were enrolled in this study. Data on nonsteroidal anti-inflam- matory drugs (NSAIDs), smoking, family history, fasting habits and frequent fast food consumption wer

... Show More
View Publication
Scopus (4)
Crossref (2)
Scopus Clarivate Crossref
Publication Date
Mon Sep 04 2017
Journal Name
International Journal Of Environmental Science And Technology
A review of permeable reactive barrier as passive sustainable technology for groundwater remediation
...Show More Authors

Scopus (156)
Crossref (149)
Scopus Clarivate Crossref
Publication Date
Wed Jun 29 2022
Journal Name
Chemphyschem
Spherical Aromaticity of Tetrahedral Pnictogens Through <i>Off</i> ‐Nucleus Isotropic Magnetic Shielding
...Show More Authors

This work revealed the spherical aromaticity of some inorganic E4 cages and their protonated E4H+ ions (E=N, P, As, Sb, and Bi). For this purpose, we employed several evaluations like (0D-1D) nucleus independent chemical shift (NICS), multidimensional (2D-3D) off-nucleus isotropic shielding σiso(r), and natural bond orbital (NBO) analysis. The magnetic calculations involved gauge-including atomic orbitals (GIAO) with two density functionals B3LYP and WB97XD, and basis sets of Jorge-ATZP, 6-311+G(d,p), and Lanl2DZp. The Jorge-ATZP basis set showed the best consistency. Our findings disclosed non-classical aromatic characters in the above molecules, which decreased from N to Bi cages. Also, the results showed more aromaticity in E4 than E4H+

... Show More
View Publication
Scopus (7)
Crossref (6)
Scopus Clarivate Crossref
Publication Date
Sat Dec 01 2018
Journal Name
Al-khwarizmi Engineering Journal
Numerical Modeling of Water Movement from Buried Vertical Ceramic Pipes through Coarse Soils
...Show More Authors

Problem of water scarcity is becoming common in many parts of the world.  Thus to overcome this problem proper management of water and an efficient irrigation systems are needed.  Irrigation with buried vertical ceramic pipe is known as a very effective in management of irrigation water.  The two- dimensional transient flow of water from a buried vertical ceramic pipe through homogenous porous media is simulated numerically using the software HYDRUS/2D to predict empirical formulas that describe the predicted results accurately.   Different values of pipe lengths and hydraulic conductivity were selected.  In addition, different values of initial volumetric soil water content were assumed in this simulation a

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Thu Mar 01 2018
Journal Name
Materials Today Communications
Improved mechanical properties of sol-gel derived ITO thin films via Ag doping
...Show More Authors

View Publication
Scopus (24)
Crossref (28)
Scopus Clarivate Crossref
Publication Date
Sat Jan 09 2021
Journal Name
Journal Of Control, Automation And Electrical Systems
Design of an Adaptive Linear Quadratic Regulator for a Twin Rotor Aerodynamic System
...Show More Authors

View Publication
Scopus (10)
Crossref (10)
Scopus Clarivate Crossref
Publication Date
Wed Jan 01 2020
Journal Name
Ieee Access
Single-Phase Grid-Tied Transformerless Inverter of Zero Leakage Current for PV System
...Show More Authors

View Publication
Scopus (59)
Crossref (53)
Scopus Clarivate Crossref