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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 Feb 05 2019
Journal Name
Journal Of The College Of Education For Women
African landlocked countries problems and outlets in the study and classification of geo-political
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Landlocked countries are displayed geopolitical new geo-political and intended to
countries that do not have sea views, a phenomenon present in four continents of the world
are: Africa, Europe, and Asia, and South America and the number arrived at the present time
to the (44) state the largest number of them in the continent it arrived in Africa (16) countries
in Asia (13) countries and Europe (13) In the State of South America two. This phenomenon
emerged due to the division of federations and empires and colonial treaties and others. But
the negative effects suffered by these countries may vary from one country to another, since
these countries in the continent of Europe, for example, is different from the same cou

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Publication Date
Tue Oct 24 2017
Journal Name
International Journal Of Science And Research
Incidence Rate of Infectious Diseases in Hospitalized Children
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Objective: The incidence of infectious diseases among hospitalized children remains high. This study describes the environmental health indicator diseases and differences between gender and age of the affected children. Patients & Methods: A review of hospitalization and death causes among children admitted to the Child Teaching Hospital for Pediatrics in Baghdad, Iraq was performed. Medical records of children admitted throughout three years period were collected for demographics data and statistical analysis using Chi-square test. Results: A total of 4,272 admissions and 309 deaths were recorded. Infectious diseases remain the primary cause of hospitalization among children and frequently lead to death; which recorded (56%) followed by ac

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Publication Date
Fri Oct 01 2010
Journal Name
Iraqi Journal Of Physics
Statistical Fluctuations of Energy Spectrum, Electromagnetic Transitions and Electromagnetic Moments in 136Xe Nucleus Using the Framework of Nuclear Shell Model
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The fluctuation properties of energy spectrum, electromagnetic transition intensities and electromagnetic moments in nucleus are investigated with realistic shell model calculations. We find that the spectral fluctuations of are consistent with the Gaussian orthogonal ensemble of random matrices. Besides, we observe a transition from an order to chaos when the excitation energy is increased and a clear quantum signature of the breaking of chaoticity when the single-particle energies are increased. The distributions of the transition intensities and of the electromagnetic moments are well described by a Porter-Thomas distribution. The statistics of electromagnetic transition intensities clearly deviate from a Porter-Thomas distribution (i

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Publication Date
Tue Jan 01 2019
Journal Name
World Journal Of Dentistry
Facial Fractures in Preschool- and School-aged Children
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Aim: The purpose of this study was to analyze the patterns of facial fractures in children and to compare them between preschool- and school-aged children. Materials and methods: This retrospective observational study included 57 children with facial fractures. The variables analyzed were the age of the patients—divided into a preschool-aged group (0–5 years) and a school-aged group (6–12 years)—gender, cause of trauma, the facial bones involved, the pattern of fracture, the modality of treatment used, the time between injury and treatment, and the postoperative complications. Results: The incidence of facial fractures in children ≤12 years was 30.2%. The patients consisted of 40 (70.2%) males and 17 (29.8%) females, and most pati

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Publication Date
Mon Oct 30 2023
Journal Name
Iraqi Journal Of Science
Silver nanoparticles synthesized by three species of genus Streptococcus and evaluate their synergistic effects with the oil extracted from Syzygium Aromaticum on some clinical bacterial isolates
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Silver nanoparticles synthesized by different species

Publication Date
Mon Mar 14 2022
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
Mathematical simulation of memristive for classification in machine learning
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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Classification of Rural Road Network in Al-Najaf Governorate
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This study has dealt with, the issue of classification of rural road network , in addition to prepare a suggested for the classification for this network in Iraq , this classification account , the specifications and characteristics of rural roads, population, and the range taking of settlements , then this classification was applied on the rural road network in the Najaf province there are four categories of classification ,the first is major arterial rural roads divided into two major arterial and minor arterial roads , while the second category collected roads which was divided into minor arterial roads and main collected roads. The third category was represented by Local Roads , it has been divided into paved roads and unpaved, the f

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Publication Date
Sat Dec 02 2023
Journal Name
Journal Of Engineering
Deep Learning of Diabetic Retinopathy Classification in Fundus Images
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Diabetic retinopathy is an eye disease in diabetic patients due to damage to the small blood vessels in the retina due to high and low blood sugar levels. Accurate detection and classification of Diabetic Retinopathy is an important task in computer-aided diagnosis, especially when planning for diabetic retinopathy surgery. Therefore, this study aims to design an automated model based on deep learning, which helps ophthalmologists detect and classify diabetic retinopathy severity through fundus images. In this work, a deep convolutional neural network (CNN) with transfer learning and fine tunes has been proposed by using pre-trained networks known as Residual Network-50 (ResNet-50). The overall framework of the proposed

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Publication Date
Mon Jul 27 2026
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of different oral hygiene regimens on the quantity of cariogenic plaque on orthodontic bands with different attachments (A clinical photographic study)
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Background: Fixed orthodontic appliances impede the maintenance of oral hygiene and result in plaque accumulation leads to enamel demineralization caused by acids produced by bacteria. Studies on plaque control strategies in orthodontic populations are limited. This might be caused by difficulties in the quantitative evaluation of dental plaque because the teeth have various levels of bracket coverage, and different tooth sizes and malocclusions, making the traditional categorical indices complex. The present study aims to evaluate the effect of different hygiene protocols on plaque quantity on bands with different attachments. Materials and method: Twenty patients had four bands within the orthodontic appliance. Then randomly divided into

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Publication Date
Mon Mar 01 2021
Journal Name
Journal Of Dental Sciences
Evaluation of the efficacy of lycopene gel compared with minocycline hydrochloride microspheres as an adjunct to nonsurgical periodontal treatment: A randomised clinical trial
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