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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
Wed Jul 10 2024
Journal Name
Pharmacia
Molecular docking, ADMET, synthesis and evaluation of new indomethacin hydrazide derivatives as antibacterial agents
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Bacterial infections pose an ongoing challenge due to resistance developed by infectious bacteria. So much research targeting designing new antibacterials is published annually. Our goal is to synthesize compounds that have given antibacterial activity according to molecular docking against the chosen target protein and that have acceptable ADMET properties that can be synthesized and used in the future. New 2-(5-methoxy-1-(4-chlorobenzene)-2-methyl-1H-indol-3-yl)acetohydrazide derivatives’ antibacterial efficacy against two common strains of Gram-negative and Gram-positive microorganisms has been developed, produced, and investigated. Sophisticated, modern analytical methods, including ATR-FTIR and 1H NMR spectroscopy, were used

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Publication Date
Fri Nov 15 2024
Journal Name
Iraqi Journal Of Science
Spatial and Temporal Analysis of Severe Dust Storm in Iraq in May 2022
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Dust storms are a common ecological occurrence in many world‘s countries, mainly in dry and semi-dry parts. Dust storms tremendously influence human health, the environment, the climate, and numerous social aspects. In this paper, spatial and temporal analysis, metrological triggers, and trajectory, dust exporting areas of a severe dust storm that occurred in Iraq on May 16, 2022, were investigated. The dust storm's backward trajectory was determined using HYSPLIT model, which is then compared with MODIS and Meteosat satellite images. The weather is then analyzed using the NCEP/NCAR Reanalysis model, and the approximate area of these sources was determined using Landsat 8 satellite image classification method. The results revealed

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Publication Date
Wed Jul 02 2025
Journal Name
International Journal Of Biology And Chemistry
Preparation and Characterization of Nano-Iron Oxide by using Iraqi Orange Plant Extract and Testing for Adsorption Efficiency
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Nanomaterials, including nanoparticles such as iron oxide nanoparticles, have received great attention from researchers due to their unique properties and applications. There are several diverse methods, including chemical, physical, and green biological methods, to prepare iron oxide nanoparticles. The green method was chosen because it is safer, purer, and less toxic compared to other methods. Therefore, the green method is a promising and environmentally friendly method in the near future. The aqueous extract of Iraqi orange leaves was used to prepare nano iron oxide, it was examined structurally and spectrally by several techniques (X-ray diffraction- XRD, Fourier transform infrared - FT-IR, field emission scanning electron micr

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Publication Date
Sun Dec 04 2016
Journal Name
Baghdad Science Journal
Transition Metal Complexes with Tridentate Ligand: Preparation, Spectroscopic Characterization, Thermal Analysis and Structural Studies
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New series of metal ions complexes have been prepared from the new ligand 1,5- Dimethyl-4- (5-oxohexan-2- ylideneamino) -2-phenyl- 1H-pyrazol-3 (2H)-one derived from 2,5-hexandione and 4-aminophenazone. Then, its V(IV), Ni(II), Cu(II), Pd(II), Re(V) and Pt(IV) complexes prepared. The compounds have been characterized by FT-IR, UV-Vis, mass and 1H and 13C-NMR spectra, TGA curve, magnetic moment, elemental microanalyses (C.H.N.O.), chloride containing, Atomic absorption and molar conductance. Hyper Chem-8 program has been used to predict structural geometries of compounds in gas phase, the heat of formation, (binding, total and electronic energy) and dipole moment at 298 K.

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Publication Date
Wed Aug 16 2017
Journal Name
Journal Of Health, Medicine And Nursing
Prevalence of Congenital Heart Disease in Infants of Diabetic Mothers in Children Welfare Teaching Hospital
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Women with diabetes in pregnancy (type 1, type 2 and gestational) are at increased risk for adverse pregnancy outcomes which also include infant development of congenital heart disease and even fetal death. Adequate glycemic control before and during pregnancy is crucial to improve outcome

Publication Date
Sat Jan 01 2022
Journal Name
1st Samarra International Conference For Pure And Applied Sciences (sicps2021): Sicps2021
Analysis the average lattice strain in the crystal direction (hkl) in MgO nanoparticles by using modified Williamson-Hall method
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In this work ,the modified williamos-Hall method was used to analysis the x-ray diffraction lines for powder of magnesium oxide nanoparticles (Mgo) .and for diffraction lines (111),(200),(220),(311) and (222).where by used special programs such as origin pro Lab and Get Data Graph ,to calculate the Full width at half maximum (FWHM) and integral breadth (B) to calculate the area under the curve for each of the lines of diffraction .After that , by using modified Williamson –Hall equations to determin the values of crystallite size (D),lattice strain (ε),stress( σ ) and energy (U) , where was the results are , D=17.639 nm ,ε =0.002205 , σ=0.517 and U=0.000678 respectively. And then using the scherrer method can by calculated the crystal

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Publication Date
Wed Oct 07 2020
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Phylogenetic Tree Analysis of First Psychrobacter Sp. Strain From Blood of Iraqi Patient; A Case Report
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Publication Date
Thu May 30 2024
Journal Name
Iraqi Journal Of Science
Bifurcation and Stability Analysis of Stagnation Point for Fluid Flow in an Inclined Channel with Inclined Magnetic Field for Peristaltic Transport
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Streamlined peristaltic transport patterns, bifurcations of equilibrium points, and effects of an inclined magnetic field and channel are shown in this study. The incompressible fluid has been the subject of the model's investigation. The Reynolds values for evanescence and an infinite wavelength are used to constrain the flow while it is being studied in a slanted channel with a slanted magnetic field. The topologies over their domestic and cosmopolitan bifurcations are investigated for the outcomes, and notion of the dynamical system are employed. The Mathematica software is used to solve the nonlinear autonomous system. The flow is found to have three different flow distributions namely augmented, trapping and backward flow. Outc

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Publication Date
Thu Mar 25 2021
Journal Name
Dental Materials Journal
Mechanical and thermal stress evaluation of PEEK prefabricated post with different head design in endodontically treated tooth: 3D-finite element analysis
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Publication Date
Thu Jun 15 2023
Journal Name
Journal Of Baghdad College Of Dentistry
Tooth wear in relation to physical salivary characteris-tics among gastroesophageal reflux disease
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Background: Gastroesophageal reflux disease, is a quite prevalent gastrointestinal disease, among which gastric content (excluding the air) returns into the oral cavity. Many 0ral manifestations related t0 this disease include tooth wear, dental caries also changes in salivary flow rate and pH. This study was conducted among gastroesophageal reflux disease patients in order to assess tooth wear in relation to salivary flow rate and pH among these patients and the effect of gastroesophageal reflux disease duration on this relation. Materials and methods: One hundred patients participate in this cross-sectional study for both genders and having an age range of 20-40 years old, patients had been endoscopically identified as having gastroeso

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