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.
Researchers have recently increased their focus on the link between autoimmune diseases and infections. Most of the recent research indicates that silent human cytomegalovirus (HCMV), may have diverse roles in the initiation, development, and exacerbation of autoimmune diseases, such as coeliac Disease (CD) and inflammatory bowel disease. The aim of this study is to evaluate the role of HCMV infection in Iraqi patients with CD. Serum samples were obtained from 60 patients with CD, and from 60 healthy subjects. Enzyme-linked immunosorbent assay was used to determine the Anti-Transglutaminase IgG/IgA, Anti-gliadin IgA/ IgG, as well as the HCMV IgM/ IgG levels in the serum samples. Significantly higher percentage of positivity for seru
... Show MoreOptoelectronic devices, widely used in high energy and nuclear physics applications, suffer severe radiation damage that leads to degradations in its efficiency. In this paper, the influence of gamma radiation (137Ce source) and beta radiation (90Sr source) on the photoelectric parameters of the Si solar cell, based on the I–V characterization at different irradiation exposer, has been studied. The penetrating radiation produces defects in the base material, may be activated during its lifetime, becoming traps for electron–hole pairs produced optically and, this will, decrease the efficiency of the solar cell. The main objective of the paper is to study and measure changes in the I–V characteristics of solar cells, such as efficienc
... Show MoreThis paper discusses estimating the two scale parameters of Exponential-Rayleigh distribution for singly type one censored data which is one of the most important Rights censored data, using the maximum likelihood estimation method (MLEM) which is one of the most popular and widely used classic methods, based on an iterative procedure such as the Newton-Raphson to find estimated values for these two scale parameters by using real data for COVID-19 was taken from the Iraqi Ministry of Health and Environment, AL-Karkh General Hospital. The duration of the study was in the interval 4/5/2020 until 31/8/2020 equivalent to 120 days, where the number of patients who entered the (study) hospital with sample size is (n=785). The number o
... Show MoreIn this paper, we have extracted Silica from rice husk ash (RHA) by sodium hydroxide to produce sodium silicate. 3-(chloropropyl)triethoxysilane (CPTES) functionalized with sodium silicate via a sol-gel method in one pot synthesis to prepare RHACCl. Chloro group in compound RHACCl replacement in iodo group to prepere RHACI. The FT-IR clearly showed absorption band of C-I at 580 cm-1. Functionalized silica RHACI has high surface area (410 m2/g) and average pore diameter (3.8 nm) within mesoporous range. X-ray diffraction pattern showed that functionalized silica RHACI has amorphous phase .Thermogravemitric analysis (TGA) showed two decomposition stages and SEM morphology of RHACI showed that the particles have irregu
... Show MoreThe deep learning algorithm has recently achieved a lot of success, especially in the field of computer vision. This research aims to describe the classification method applied to the dataset of multiple types of images (Synthetic Aperture Radar (SAR) images and non-SAR images). In such a classification, transfer learning was used followed by fine-tuning methods. Besides, pre-trained architectures were used on the known image database ImageNet. The model VGG16 was indeed used as a feature extractor and a new classifier was trained based on extracted features.The input data mainly focused on the dataset consist of five classes including the SAR images class (houses) and the non-SAR images classes (Cats, Dogs, Horses, and Humans). The Conv
... Show MoreBackground: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev
... Show MoreRenal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si
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