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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
Thu Nov 29 2018
Journal Name
Civil Engineering Journal
Strength and Serviceability of Reinforced Concrete Deep Beams with Large Web Openings Created in Shear Spans
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Deep beams are used in wide construction fields such as water tanks, foundations, and girders in multi-story buildings to provide certain areas free of columns. In practice it is quite often occurring to create web opening in deep beams to supply convenient passage of ventilation ducts, cable channels, gas and water pipes. Experimental studies of ten 10 deep beams were carried out, where two of them are control specimens without openings and eight with large web openings in the shear spans. The variables that have been adopted are the ratio of the shear span to the overall depth of the member cross-section, location and dimensions of the opening. Test results showed that there was a decrease in the load carrying capacity of deep bea

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Publication Date
Mon Mar 07 2022
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Current Sites of Infections and Types of Microorganisms in Patient with Febrile Neutropenia in Hematological Wards – Single Center Study
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BACKGROUND: Febrile neutropenia occurs in more than 80% of patients with hematological malignances specially after chemotherapy cycles and an infectious source is identified in approximately 20–30%. Various bacterial, viral, and fungal pathogen contribute to the development of neutropenic fever and without prompt antibiotic therapy mortality rate can be as high as 70%. AIM: The objective of the study was to document the current sites of infection in patients with febrile neutropenia in hematological ward in Baghdad Teaching Hospital, the microorganisms and antibiotic susceptibly in culture positive cases and mortality rate in 1 week and 4 weeks after episode of fever. PATIENTS AND METHODS: One hundred cases of febrile neutrop

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Publication Date
Sun Sep 30 2012
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Development of PVT Correlation for Iraqi Crude Oils Using Artificial Neural Network
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Several correlations have been proposed for bubble point pressure, however, the correlations could not predict bubble point pressure accurately over the wide range of operating conditions. This study presents Artificial Neural Network (ANN) model for predicting the bubble point pressure especially for oil fields in Iraq. The most affecting parameters were used as the input layer to the network. Those were reservoir temperature, oil gravity, solution gas-oil ratio and gas relative density. The model was developed using 104 real data points collected from Iraqi reservoirs. The data was divided into two groups: the first was used to train the ANN model, and the second was used to test the model to evaluate their accuracy and trend stability

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Publication Date
Thu Aug 22 2013
Journal Name
International Journal Of Dermatology
Skin tumors and skin infections in kidney transplant recipients vs. patients with pemphigus vulgaris
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Abstract<sec><title>Background

Pemphigus vulgaris is an autoimmune disease of the skin and mucous membrane. Renal transplantation is a common procedure in Iraq, and these patients required prolonged use of immunosuppressive drugs.

Objective

To study the frequency of skin tumors and infections in patients with pemphigus vulgaris compared with renal transplant recipients and normal controls.

Patients and methods

One hundred kidney transplant recipients, their ages ranged from 14 to 70 (46.65 ± 4.74) years

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Publication Date
Thu Jul 01 1999
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
Some leaf hopper and a plant hopper with their populations in Abu-Ghraib, Iraq
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Seven leafhoppers (Cicadeilidae). and one plantboppei (Delpbacidae), Homoptera were identified from a one year operated light trap at the College of Agiculture farm in Abu¬Ghraib. The leafhoppers were: Balclutha hortensis Lind.; B. rufaofasciata Merine.; psammctettix alien us Dahlbem.; P. striatus L.; Extianus capicola.; Neoaliturus haematoceps H. R.; and Orozius albicnctus Dist. The planthopper was Sogatella vibix Haupt. one year records of their populations, indicated that B. rufofasciata occured during the fall from October 10 until December 18; E. capicola from October 24 until November 21 and again in the summer from March to October. The others occured only during the summer, from the end of March and early April until Mid-Septemb

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Publication Date
Sat Mar 07 2026
Journal Name
Al-adab Journal
Comic Relief in Elizabethan Drama with Special Reference to Christopher Marlowe and William Shakespeare
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Publication Date
Sun Feb 03 2019
Journal Name
Journal Of The College Of Education For Women
Logical thinking and its relation with problem Solving among female instructors in the university
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problems with its unobvious effect on scientific creativity and information. Problem solving is one of main goals of researchers because it develops their right logical thinking methods. The present study aims at measuring logical thinking among female it structures in the university mea swing problem solving among them ,identifying statically differences significance in logical thinking among female instructors in the university according to (Specialization Variable), identifying differences significance in problem Solving among female instructions in the university according to ( Specialization Variable) and identifying the Correlation between logical thinking and problem solving among female instructors in the university. The sample c

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Publication Date
Wed Jan 01 2014
Journal Name
Al-adab Journal
Glottal Stop in R.P English and Standard Arabic with Reference to Some Other Varieties
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Publication Date
Sun Mar 31 2024
Journal Name
Acta Microbiologica Bulgarica
Human Papillomavirus Genotyping among Women and its Relationship with Cervical Cancer in Diyala Province
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The study aimed to identify Human Papillomavirus (HPV) and its genotypes prevalent among Iraqi women. They collected 89 cervical swab samples from diagnosed patients at Baghdad Teaching Hospital's Early Detection Clinic. Using PCR technique on 19 samples, they found HPV16 (57.89%) and HPV6 (10.52%) genotypes, while HPV-11, 18, and 45 were absent. HPV 16 and HPV 6 were common in cervical cancer among Iraqi women. Sequencing revealed nucleic acid variants in HPV-6 (124A>C) and HPV-16 (225G>T) E6 genes, resulting in silent effects on the encoded protein. These changes didn't alter amino acid residues (p.74I= and p.L117=). Phylogenetic analysis showed substantial distances between their samples and other viral types, indicating di

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Publication Date
Sun Jan 01 2017
Journal Name
Journal Of Research In Medical Sciences
Procalcitonin levels and other biochemical parameters in patients with or without diabetic foot complications
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