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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
Mon Apr 01 2019
Journal Name
The Saudi Dental Journal
Implementation and characterization of coating pure titanium dental implant with sintered β-TCP by using Nd:YAG laser
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Objectives This work presents laser coating of grade 1 pure titanium (Ti) dental implant surface with sintered biological apatite beta-tricalcium phosphate (β-TCP), which has a chemical composition close to bone. Materials and methods Pulsed Nd:YAG laser of single pulse capability up to 70 J/10 ms and pulse peak power of 8 kW was used to implement the task. Laser pulse peak power, pulse duration, repetition rate and scanning speed were modulated to achieve the most homogenous, cohesive and highly adherent coat layer. Scanning electron microscopy (SEM), energy dispersive X-ray microscopy (EDX), optical microscopy and nanoindentation analyses were conducted to characterise and evaluate the microstructure, phases, modulus of elasticity

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Publication Date
Thu Apr 21 2022
Journal Name
Journal Of Ecological Engineering
Simultaneous Adsorption of Ternary Antibiotics (Levofloxacin, Meropenem, and Tetracycline) by SunFlower Husk Coated with Copper Oxide Nanoparticles
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In this study, a new adsorbent derived from sunflower husk powder and coated in CuO nanoparticles (CSFH) was investigated to evaluate the simultaneous adsorption of Levofloxacin (LEV), Meropenem (MER), and Tetracycline (TEC) from an aqueous solution. Significant improvements in the adsorption capacity of the sunflower husk were identified after the powder particles had been coated in CuO nanoparticles. Kinetic data were correlated using a pseudo-second-order model, and was successful for the three antibiotics. Moreover, high compatibility was identified between the LEV, MER, and TEC, isotherm data, and the Langmuir model, which produced a better fit to suit the isotherm curves. In addition, the spontaneous and exothermic nature of the adso

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Publication Date
Fri Dec 30 2011
Journal Name
Al-kindy College Medical Journal
The Role of the Use of Low Molecular Weight Heparin in the Prevention of Deep Venous Thrombosis after Total Knee Arthroplasty
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Background A prospective clinical study was
performed to compare the efficacy of the use of lowmolecular-
weight heparin group (enoxparin group)
with control group in the prevention of deep-vein
thrombosis after total knee arthroplasty.
Aim of the study: to assess the prevalence of DVT
after total knee arthroplasty and evaluate the
importance of the use of low molecular weight
heparin in the prevention of this DVT.
Methods Thirty-three patients undergoing total
knee arthroplasty were randomly divided into two
groups. One group consisted of 12 patients who
received no prophylaxis with an anticoagulant (the
control group), other group consisted of 21 patients
who received the low-molecular-weight h

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Publication Date
Sat Aug 09 2025
Journal Name
Oxidation Communications
SYNTHESIS AND SPECTRAL CHARACTERISATION, MOLECULAR DOCKING, AND ANTIOXIDANT ACTIVITIES OF NOVEL METAL COMPLEXES AND THEIR NANOCOMPLEXES DERIVED FROM AN ISATIN-BASED SCHIFF BASE
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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Hydatid Cyst Disease among Patients hospitalized at Baghdad teaching hospital: clinico-epidemiological study
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Background. Echinococcosis/ hydatitdosis is a zoonotic parasitic disease caused by the infestation of the larval form of the tapeworm of the genus Echinococcus .The Liver, lungs, and kidneys are the common areas of infestation.Objectives: To describe hydatid disease in hospitalized patients from a clinico-epidemiological perspectives.Methods:: A retrospective study was conducted over a period of 6 months extending from 15th of November 2011 to the 15th of May 2012 by reviewing records of 125 patients who were hospitalized at Baghdad Teaching Hospital during 2011and received medical and surgical treatment for hydatid cyst disease. The information covered the socio-demographic and clinical characteristics of the patientsResults:.The presen

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Publication Date
Fri Nov 25 2022
Journal Name
Baghdad Science Journal
Evaluation of Some Antioxidants and Oxidative Stress Tests in Iraqi Lung Cancer Patients
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Vitamin K-dependent protein (VKDP) contributes to the development of lung cancer. The purpose of this research was to better understanding of the role of blood matrix Gla protein (MGP), VKDPs, Malondialdehyde (MDA), Superoxide dismutase (SOD) and Vitamin K (Vit K) in Iraqi patients with lung cancer before and after the first cycle of chemotherapy. Blood samples were collected from Al amal National Hospital for cancer treatment from October 2021 to May 2022, and a total of 80 samples were collected, divided into two groups (40 patient before taking a chemotherapy and 40 patients after taking chemotherapy), ranging in age from 20 to 45 years old. The results showed that although there were highly statistically significant differences in MD

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Publication Date
Sat Aug 01 2015
Journal Name
Journal Of Bridge Engineering
Torsional Analysis of Multicell Concrete Box Girders Strengthened with CFRP Using a Modified Softened Truss Model
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Publication Date
Thu Jul 04 2019
Journal Name
International Journal Of Automotive And Mechanical Engineering
Nonlinear Buckling Analysis of Steel Cylindrical Shell with Elliptical Cut-out Subjected to Longitudinal Compressive Load
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The current paper investigates the effect of cut-out design parameters on load-bearing capacity and buckling behaviour of steel cylindrical shell using a nonlinear finite element analysis in modelling cylinder buckling under longitudinal compressive load. The effect of four geometry design parameters: shell diameter to thickness ratio, cut-out location, orientation, and size were investigated in this study. To enhance the prediction of buckling behaviour, both geometrical and material nonlinearities were considered. An ANSYS APDL code was written and tested by verifying its validity through comparison with former buckling study. The results showed that changing the cut-out location from mid-height of the cylindrical shell towards a

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Publication Date
Sun Dec 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Free Vibration Analysis of Laminated Composite Plates with General Boundary Elastic Supports Under Initial Thermal Load
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Free vibration behavior was developed under the ratio of critical buckling temperature of laminated composite thin plates with the general elastic boundary condition. The equations of motion were found based on classical laminated plate theory (CLPT) while the solution functions consists of trigonometric function and a continuous function that is added to guarantee the sufficient smoother of the so-named remaining displacement function at the boundaries, in this research, a modified Fourier series were used, a generalized procedure solution was developed using Ritz method combined with the imaginary spring technique. The influences of many design parameters such as angles of layers, aspect ratio, thickness ratio, and ratio of initial in-

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Publication Date
Mon Jul 27 2020
Journal Name
Water
Groundwater Flow-Modeling and Sensitivity Analysis in a Hyper Arid Region
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Groundwater modelling is particularly challenging in arid regions where limited water recharge is available. A fault zone will add a significant challenge to the modelling process. The Western Desert in Iraq has been chosen to implement the modelling concept and calculate the model sensitivity to the changes in aquifer hydraulic properties and calibration by researching 102 observations and irrigation wells. MODFLOW-NWT, which is a Newtonian formulation for MODFLOW-2005 approaches, have been used in this study. Further, the simulation run has been implemented using the Upstream-Weighting package (UPW) to treat the dry cells. The results show sensitivity to the change of the Kx value for the major groundwater discharge flow. Only abo

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