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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
Sun Dec 30 2018
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Analysis of Stuck Pipe Incidents in Khabaz Field
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There are many events which causes nonproductive time (NPT) in the drilling industry. The mostly effective in this NPT is pipe sticking event. A considerable amount of time and resources can be spent in efforts to free a stuck pipe. In addition, Unsuccessful fishing operations results in costly alternatives including side-tracking. The drilling in Khabaz oil field poses many operational challenges among of them stuck pipe , lost circulation, flow of salt water during drilling, and hole caving. Stuck pipe can be considered the quite difficult problem in Khabaz oil field due to associated incidents which lead to NPT activities.
Well Khabaz -34 was selected to study the problem of stuck pipe in this field. An analysis of stuck pipe event

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Publication Date
Sun May 08 2011
Journal Name
Journal Of Planner And Development
spatial analysis of health services in wasit governorate
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The spatial variation of regional development means that some regions to be a center of activities and services and job opportunities and economic development, and are usually in major urban centers, while lacking in other regions to such activities and services. Perhaps the studies of spatial variation SPATIAL INEQUALITY, regional development, REGIONAL DEVELOPMENT has had the greatest impact on the operations of regional planning in particular the study of the regional dimension of any city requires that you review the basis and theoretical framework, which refers to the inevitability of the existence of disparities across regions, due to the properties of the regions population and economic political and environmental The study

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Publication Date
Sun Feb 03 2019
Journal Name
Journal Of The College Of Education For Women
Geographical analysis of the poultry in Wasit governorate
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This study aims to discuss the projects of poultry in Wasit province in 2013 and geographical distribution according to the type and contrast on the level of administrative units representing Districts and The reasons for this discrepancy, as well as knowledge of the factors affecting the distribution by the analysis and reasoning and description This study divided to the four themes, The first of the statement of nutritional importance and economic Poultry focused on the importance of various poultry products, The second one shows the relative position of the province of Wasit between the provinces of Iraq in poultry and production of eggs and meat farming projects, and then followed by the third one (theme) as it ensures the geographic

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Publication Date
Thu Jun 01 2023
Journal Name
Cellular, Molecular And Biomedical Reports
Comprehensive analysis of microRNA (miRNA) in cancer cells
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Publication Date
Mon Jan 01 2024
Journal Name
Journal Of Applied Engineering Science
Transient analysis of laminated plates in thermal environment
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Transient displacement of laminated plates under combined load based on Mantari' s displacement field are investigated. The solution is implemented under transient mechanical load (sinusoidal, step and triangular sinusoidal distributed pressures pulse) and thermal buckling for plates with different layer orientation and thickness ratio. Equations of motion based on higher-order theory are derived through Hamilton' s principle, and solved using Naviertype solution for simply supported laminated plates. The results are presented for many effective parameters such as the number of laminate and orientation on the dynamic response of plates. Results show the validity of this displacement field in studying response of laminated thick and

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Publication Date
Fri Mar 01 2019
Journal Name
Iraqi Journal Of Physics
Synthesized pure cobalt oxide nanostructure and doped with yttrium by hydrothermal method for photodetector applications
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In this study, pure Co3O4 nano structure and doping with 4 %, and
6 % of Yttrium is successfully synthesized by hydrothermal method.
The XRD examination, optical, electrical and photo sensing
properties have been studied for pure and doped Co3O4 thin films.
The X-ray diffraction (XRD) analysis shows that all films are
polycrystalline in nature, having cubic structure.
The optical properties indication that the optical energy gap follows
allowed direct electronic transition calculated using Tauc equation
and it increases for doped Co3O4. The photo sensing properties of
thin films are studied as a function of time at different wavelengths to
find the sensitivity for these lights.
High photo sensitivity dope

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Publication Date
Fri Dec 01 2023
Journal Name
Baghdad Science Journal
Determining ACE-2 Level and Some Relevant Biochemical Parameters and studying the effect of Gender in Iraqi Diabetic Patients with Glomeruli and Renal Tubules Fibrosis as Early Prediction Marker
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     Diabetic kidney disease is an illness of the glomerulus that interferes with the glomerular filtration barrier (GFB), which is worked to enable kidney to selective purification of water and solutes in addition to limiting the movement of large macromolecules such as albumin. In the glomerular endothelium, mesangial cells, foot cells, and the brush border of the proximal tubules, ACE-2 is expressed and that the kidneys represent the highest-expressing region of this enzyme. Thus, the current study aimed to evaluate ACE-2 level in this case compared to healthy condition. The study Conducted with 120 male and female ranging in age (30-65) years old. Ninety patients with type 2 diabetes subdivided into three groups on the basis of A

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Publication Date
Sat Jun 11 2022
Journal Name
International Journal Of Health Sciences
Prospective open pilot study on the use of cam oleum ointment for feline calicivirus disease in cats in Baghdad City
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Feline calicivirus (FCV) is a highly contagious virus that causes a mild to severe respiratory infection and oral disease in cats. It is especially common in shelters and breeding colonies, and often infects young cats, this study contained 50 different cats and samples were collected from September 2020 to January 2021. Samples taken by swabs from oropharyngeal and conjunctival area depending on the lesion of FCV infection to investigate viral nucleic acid from collected swabs, then extracting RNA from the swabs and converting it to a cDNA molecule, and last detecting the open reading template gene 2 using specific primer, these samples isolated from veterinary clinics, and shelters, all samples were collected from Baghdad city .Ra

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Publication Date
Wed Jun 19 2019
Journal Name
Scientific Reports
Environmental microcystin targets the microbiome and increases the risk of intestinal inflammatory pathology via NOX2 in underlying murine model of Nonalcoholic Fatty Liver Disease
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Abstract<p>With increased climate change pressures likely to influence harmful algal blooms, exposure to microcystin, a known hepatotoxin and a byproduct of cyanobacterial blooms can be a risk factor for NAFLD associated comorbidities. Using both <italic>in vivo</italic> and <italic>in vitro</italic> experiments we show that microcystin exposure in NAFLD mice cause rapid alteration of gut microbiome, rise in bacterial genus known for mediating gut inflammation and lactate production. Changes in the microbiome were strongly associated with inflammatory pathology in the intestine, gut leaching, tight junction protein alterations and increased oxidative tyrosyl radicals. Increased lactate produ</p> ... Show More
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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Density functional theory study of molecular structure, Electronic properties, UV–Vis spectra on coumarin102.
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The various properties of the ground and excited electronic states of coumarins 102 using density functional theory (DFT) and time-dependent density functional theory (TDDFT) was calculated by the B3LYP density functional model with 6-31G(d,p) basis set by Gaussian 09 W program. Spectral characteristics of coumarin102 have been probed into by methods of experimental UV-visible, and quantum chemistry. The UV spectrum was measured in methanol. The optimized structures, total energies, electronic states (HOMO- LUMO), energy gap, ionization potentials, electron affinities, chemical potential, global hardness, softness, global electrophilictity, and dipole moment were measured. We find good agreement between experimental data of UV spectrum and

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