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.
Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, in which the myelin sheaths got injured. The prevalence of MS is on grow, as well as, it affects the young ages. Females are most common to have MS compared to males. Oxidative stress is the situation of imbalance between oxidants (free radicals and reactive oxygen species (ROS)) and antioxidants in a living system, in which either the oxidants are elevated or antioxidants are reduced, or sometimes both. ROS and oxidative stress have been implicated in the progression of many degenerative diseases, which is important in cracking the unrevealed mysteries of MS. In this review article, some of the proposed mechanisms that link oxidative stres
... Show MoreThe study includes collection of data about cholera disease from six health centers from nine locations with 2500km2 and a population of 750000individual. The average of infection for six centers during the 2000-2003 was recorded. There were 3007 cases of diarrhea diagnosed as cholera caused by Vibrio cholerae. The percentage of male infection was 14. 7% while for female were 13. 2%. The percentage of infection for children (less than one year) was 6.1%, it while for the age (1-5 years) was 6.9%and for the ages more than 5 years was 14.5%.The total percentage of the patients stayed in hospital was 7.7%(4.2%for male and 3.4%for female). The bacteria was isolated and identified from 7cases in the Central Laboratory for Health in Baghdad. In
... Show MoreBack ground: Several devices with different physical bases have been developed for the clinical measurement of corneal thickness, they classified into 4 categories: Scheimpflug photography based, Slit –Scanning topography, optical coherence tomography (OCT) based and ultrasound (US) based.Objective:To evaluatethe precision of the new Scheimpflug –Placido disc corneal topography in measurement of corneal thickness and to compare the measured values with that obtained by US pachymetry.Methods: Setting of this study is Lasik center in Eye Specialty Private Hospital. Baghdad. Iraq.Eyes of healthy subjects were examined with the Sirius topography.3 consecutive measurements of central (CCT)and thinnest (TCT) corneal thicknesses were obtain
... Show MoreLanguage is fundamental and important for the development of various skills especially in the kindergarten stage where the child begins to approach others and interact with them linguistically listen to them and make sentences to communicate his ideas to them and without the ability to talk and expression, the child's benefit of his experiences in the kindergarten remains limited.
And that children at any stage of early education are subject to different stages of linguistic development, and these stages are a fundamental feature in learning, especially for the skills of speaking, listening and reading, Therefore, the researcher chose the speaking skill the
... Show MoreHistorical concepts are among the concepts that are difficult to present to the pre-school child except by using modern techniques, as well as the difficulty of making visits to all historical monuments and going back to antiquity and the lack of studies in this area, therefore, we need an attractive medium that children love which is able to convey some abstract concepts that are difficult to teach to children using traditional methods, and among these activities that the kindergarten provides to children are the stories through which they develop their linguistic wealth, consolidate their religious and spiritual inclinations, refine their correct morals, and form their proper attitudes, knowledge and life concepts.
The
... Show MoreTwo-dimensional unsteady mixed convection in a porous cavity with heated bottom wall is numerically studied in the present paper. The forced flow conditions are imposed by providing a hydrostatic pressure head at the inlet port that is located at the bottom of one of the vertical side walls and an open vent at the top of the other vertical side wall. The Darcy model is adopted to model the fluid flow in the porous medium and the combination effects of hydrostatic pressure head and the heat flux quantity parameters are carefully investigated. These governing parameters are varied over wide ranges and their effect on the heat transfer characteristics is studied in detail. It is found that the time required to reach a desired temperature at th
... Show MoreObjective: Pregnancy-induced hypertension (PIH) is a major pregnancy complication that leads to maternal mortality. Here, we have scrutinized the correlation between serum levels of hydrogen peroxide (H2O2) and superoxide dismutase (SOD) in PIH.Methods: Serum samples were collected from 80 Iraqi women (40 women with PIH as patients group, 20 normotensive pregnant women as a positive control, and 20 normotensive non-pregnant women as a negative control) all groups were diagnosed clinically.Results: Serum of H2O2 and SOD levels was measured for all studied groups. Results showed that there were no significant variances in age and gestational age distribution between all studied groups. Furthermore, result showed that the serum level o
... Show MoreVaccination against novel Coronavirus (SARS-CoV-2) become highly recommended. In Iraq, three vaccines are available. They are Pfizer-Biontech, Oxford-AstraZenica, and Sino harm vaccines. A cross-sectional retrospective study was performed to a total of 2399 individual who are vaccinated with one of the available vaccines. People who are infected with Covid-19 before and/or after vaccination of either studied SARS-CoV-2 vaccines were also involved in this study (1175 case). Signs and symptoms have been reported for each of confirmed positive cases of Coronavirus disease. Statistical data analyses were applied to reveal the effect of different SARS-CoV-2 vaccines on the incidence of novel coronavirus disease among Iraqi population. Also, the
... Show MoreBackground: Imaging has a critical role in the diagnosis and evaluation of cardiac diseases, beginning with chest radiography and fluoro-scopy and progressing to coronary angio-graphy, echocardiography, nuclear medicine and recently multidetector computed tomo-graphy (MDCT) as well as magnetic resonance (MR) imaging
Objective: To highlight the role of Multi-detector CT in the evaluation of coronary artery disease and its importance of being noninvasive diagnostic technique.
Methods: A cross sectional study for 20 patients. Patients were asked to fast 6 hours prior to the examination and the patients with heart rates above 65 beats per minute were given cardio-
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