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.
In recent years, with the rapid development of the current classification system in digital content identification, automatic classification of images has become the most challenging task in the field of computer vision. As can be seen, vision is quite challenging for a system to automatically understand and analyze images, as compared to the vision of humans. Some research papers have been done to address the issue in the low-level current classification system, but the output was restricted only to basic image features. However, similarly, the approaches fail to accurately classify images. For the results expected in this field, such as computer vision, this study proposes a deep learning approach that utilizes a deep learning algorithm.
... Show MoreNowadays, people's expression on the Internet is no longer limited to text, especially with the rise of the short video boom, leading to the emergence of a large number of modal data such as text, pictures, audio, and video. Compared to single mode data ,the multi-modal data always contains massive information. The mining process of multi-modal information can help computers to better understand human emotional characteristics. However, because the multi-modal data show obvious dynamic time series features, it is necessary to solve the dynamic correlation problem within a single mode and between different modes in the same application scene during the fusion process. To solve this problem, in this paper, a feature extraction framework of
... Show MoreBreast cancer constitutes about one fourth of the registered cancer cases among the Iraqi population (1)
and it is the leading cause of death among Iraqi women (2)
. Each year more women are exposed to the vicious
ramifications of this disease which include death if left unmanaged or the negative sequels that they would
experience, cosmetically and psychologically, after exposure to radical mastectomy.
The World Health Organization (WHO) documented that early detection and screening, when coped
with adequate therapy, could offer a reduction in breast cancer mortality; displaying that the low survival rates
in less developed countries, including Iraq, is mainly attributed to the lack of early detection programs couple
Ghrelin and leptin are hunger hormones related to type 2 diabetes mellitus (T2DM), and the pathogenesis of T2DM is the abnormality in insulin secretion and insulin resistance (IR). The aim of this study is to evaluate ghrelin and leptin concentrations in blood and to specify the relationship of these hormones as dependent variables with some biochemical and clinical measurements in T2DM patients. In this study, forty one T2DM and forty three non-diabetes mellitus (non-DM) subjects, aged between 40-60 years and with normal weight, were enrolled. Fasting serum ghrelin and leptin were estimated by enzyme-linked immunosorbent assay (ELISA). In our results ghrelin was significantly increased, and leptin was significantly decreased, in T2DM pa
... Show MorePharmaceutical care is a patient-centered, outcomes oriented practice that requires the pharmacist to work in concert with the patient and the patient’s other healthcare providers to promote health, to prevent disease, and to assess, monitor, initiate, and modify medication use to assure that drug therapy regimens are safe and effective. In addition, the presence of clinical pharmacists has led to a higher quality of patient education and provision of complete detailed information for patients. In developed countries Pharm D has become the professional degree for practice of Pharmacy. The graduates will be enrolled in a pharmacy residency program; admission to the residency programs is available to Pharm D graduates of an accredit
... Show MoreThis paper proposes two hybrid feature subset selection approaches based on the combination (union or intersection) of both supervised and unsupervised filter approaches before using a wrapper, aiming to obtain low-dimensional features with high accuracy and interpretability and low time consumption. Experiments with the proposed hybrid approaches have been conducted on seven high-dimensional feature datasets. The classifiers adopted are support vector machine (SVM), linear discriminant analysis (LDA), and K-nearest neighbour (KNN). Experimental results have demonstrated the advantages and usefulness of the proposed methods in feature subset selection in high-dimensional space in terms of the number of selected features and time spe
... Show MoreWireless Body Area Sensor Networks (WBASNs) have garnered significant attention due to the implementation of self-automaton and modern technologies. Within the healthcare WBASN, certain sensed data hold greater significance than others in light of their critical aspect. Such vital data must be given within a specified time frame. Data loss and delay could not be tolerated in such types of systems. Intelligent algorithms are distinguished by their superior ability to interact with various data systems. Machine learning methods can analyze the gathered data and uncover previously unknown patterns and information. These approaches can also diagnose and notify critical conditions in patients under monitoring. This study implements two s
... Show MoreInformation from 54 Magnetic Resonance Imaging (MRI) brain tumor images (27 benign and 27 malignant) were collected and subjected to multilayer perceptron artificial neural network available on the well know software of IBM SPSS 17 (Statistical Package for the Social Sciences). After many attempts, automatic architecture was decided to be adopted in this research work. Thirteen shape and statistical characteristics of images were considered. The neural network revealed an 89.1 % of correct classification for the training sample and 100 % of correct classification for the test sample. The normalized importance of the considered characteristics showed that kurtosis accounted for 100 % which means that this variable has a substantial effect
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