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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Active Ocular involvement in iraqi Patients with Behçet's Disease
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Publication Date
Thu Oct 07 2021
Journal Name
Romanian Neurosurgery
Indirect revascularization in an Iraqi child with Moyamoya Disease
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Background: Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by bilateral stenosis starting at the supraclinoid internal carotid artery (ICA), with the development of a collateral network of vessels. It is an established cause of stroke in the pediatric age group. Despite its increasing prevalence in various parts of the world, it remains largely underrecognized in the Middle East, particularly in Iraq. This is the first case of MMD in an Iraqi patient undergoing surgery. Case description: A 12-year-old boy presents with a 3-months history of progressive behavioural changes. MRI revealed diffuse infarcts of different ages. MRA and CT angiography revealed extensive asymmetrical steno-occlusive changes of t

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Isolation of Some Pathogenic Bacteria and Fungi From Student Mobile Phones (Part I)
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Background: Mobile phones are approximately widely used everywhere like in hospital wards, clinics and universities as well as biomedical laboratories. They have become very important tool in students’ life. In contrast, these tools carry many harmful bacteria which are responsible for infectious diseases in human because they serve as a reservoir for different pathogens. Current study was aimed to isolate bacteria from students’ mobile phones at the Institute of Medical Technology/Al-Mansour/The Middle Technical University, Baghdad, Iraq. Also, the study investigated microbial resistance to many antimicrobial agents as well as the appropriate remedial measures. Method: Four hundred and fifty swabs from mobile phones were collected from

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Publication Date
Mon Oct 17 2022
Journal Name
Sustainability
Analysis and Residual Behavior of Encased Pultruded GFRP I-Beam under Fire Loading
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In this paper, fire resistance and residual capacity tests were carried out on encased pultruded glass fiber-reinforced polymer (GFRP) I-beams with high-strength concrete beams. The specimens were loaded concurrently under 25% of the ultimate load and fire exposure (an increase in temperature of 700 °C) for 70 min. Subsequently, the fire-damaged specimens were allowed to cool and then were loaded statically until failure to explore the residual behaviors. The effects of using shear connectors and web stiffeners on the residual behavior were investigated. Finite Element (FE) analysis was developed to simulate the encased pultruded GFRP I-beams under the effect of fire loading. The thermal analyses were performed using the general-pu

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Adenoidectomy with Myringotomy and Tympanostomy Tube Versus Adenoidectomy with Myringotomy in Treatment of Otitis Media with Effusion in 5-7 Years Old Children
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Background: Adenoiditis is a common cause of otitis media with effusion (OME) in children & perhaps OME is one of the most common diseases leads to hearing impairment in children with subsequent impairment of speech development & learning difficulties , however, treatment remains controversial. Objectives: To evaluate if there is a significant advantage of tympanostomy tube insertion in association with adenoidectomy over adenoidectomy in association with myringotomy alone in treatment of children with OMEType of the study: This is a prospective study. Patients & methods: The study consisted from 63 children diagnosed as cases of bilateral OME & variable degrees of adenoid hypertrophy. The patients were divided randomly i

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Publication Date
Wed Mar 01 2017
Journal Name
The Iraqi Postgraduate Medical Journal
The Frequency and Spectrum of K-ras Mutations among Iraqi Patients with Sporadic Colorectal Carcinoma (CRC)
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BACKGROUND: CRC is one of the most common cancers in the world. K-ras is proto-oncogene with GTPase activity that is lost when the gene is mutated. Analysis of K-ras mutational status is very important for CRC treatment, being the most important predictors of resistance to targeted therapy. OBJECTIVE: This study aims to determine the frequency and spectrum of K-ras mutation among Iraqi patients with sporadic CRC. PATIENTS, MATERIALS AND METHODS: This study enrolled 35 cases with sporadic CRC; their clinicopathological parameters were analyzed. The FFPE blocks were used for DNA extraction; PCR amplification of K-ras gene and hybridization of allele-specific oligoprobes were performed. The assay covers 29 mutations in the K-ras gene (codons 1

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Publication Date
Sat Jan 01 2022
Journal Name
Intelligent Automation &amp; Soft Computing
A Novel Classification Method with Cubic Spline Interpolation
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Publication Date
Fri Nov 21 2025
Journal Name
Plos Global Public Health
Association of socioeconomic and demographic determinants with clinical outcomes in Iraqi patients with diabetes: A cross-sectional study
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Social determinants of health (SDH) profoundly influence diabetes outcomes; nevertheless, their impact on the Iraqi diabetic population remains under researched. The objectives of this study were To investigate the relationship between particular social determinants of health (SDH) variables namely food and housing insecurity, social support, income, and education and clinical outcomes, including HbA1c levels, medication adherence, and patient satisfaction among Iraqi diabetic patients. A cross-sectional study involving 212 diabetic patients in Iraq was conducted. Participants attending a healthcare facility in Iraq filled out validated questionnaires regarding social determinants of health, medication adherence, and satisfaction. HbA1c rea

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Synthesis and Characterization of Cu(I)-Folic Acid Complex A Theoretical and Experimental Study
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Copper (I) complex containing folic acid ligand was prepared and characterized on the basis of metal analyses, UV-VIS, FTIR spectroscopies and magnetic susceptibility. The density functional theory (DFT) as molecular modeling calculations was used to determine the donor atoms of folic acid ligand which appear clearly at oxygen atoms binding to hydrogen. Detection of donation sights is supported by theoretical parameters such as geometry, mulliken population, mulliken charge and HOMO-LUMO gap obtained by DFT calculations.

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Publication Date
Wed Sep 01 2021
Journal Name
Baghdad Science Journal
Measuring Positive and Negative Association of Apriori Algorithm with Cosine Correlation Analysis
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This work aims to see the positive association rules and negative association rules in the Apriori algorithm by using cosine correlation analysis. The default and the modified Association Rule Mining algorithm are implemented against the mushroom database to find out the difference of the results. The experimental results showed that the modified Association Rule Mining algorithm could generate negative association rules. The addition of cosine correlation analysis returns a smaller amount of association rules than the amounts of the default Association Rule Mining algorithm. From the top ten association rules, it can be seen that there are different rules between the default and the modified Apriori algorithm. The difference of the obta

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