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: Intestinal infections are frequently occur among children with cancer who receive chemotherapy. On the other hand, diarrhea is especially common and severe among cancer patients that develop neutropenia, either due to the disease itself or due to the intensive chemotherapy. There are many causes of diarrhea among those patients, but intestinal infections still an important etiology among them.
Objectives: to study the frequency of diarrhea among neutropenic children, with its infectious etiologies, especially the bacterial, fungal and parasitic causes.
Type of the study:Cross-sectional study.
Methods: the study was done in the Oncology
... Show MoreThe study aimed to design a test of pre-writing skills for public kindergartens in Baghdad city. The test consisted of (25) items applied on a sample of (150) kindergarteners to identify these skills as well as to identify the significant difference between male and female children and if there is a difference between pre-school children and kindergarteners. The results showed the presence of pre-writing skills with a high degree in kindergarten children. The differences were clear in these skills between male and female children and those in pre-school than those in kindergartens. The researcher suggested a number of recommendations and proposals.
Arabic text categorization for pattern recognitions is challenging. We propose for the first time a novel holistic method based on clustering for classifying Arabic writer. The categorization is accomplished stage-wise. Firstly, these document images are sectioned into lines, words, and characters. Secondly, their structural and statistical features are obtained from sectioned portions. Thirdly, F-Measure is used to evaluate the performance of the extracted features and their combination in different linkage methods for each distance measures and different numbers of groups. Finally, experiments are conducted on the standard KHATT dataset of Arabic handwritten text comprised of varying samples from 1000 writers. The results in the generatio
... Show MoreThe field of autonomous robotic systems has advanced tremendously in the last few years, allowing them to perform complicated tasks in various contexts. One of the most important and useful applications of guide robots is the support of the blind. The successful implementation of this study requires a more accurate and powerful self-localization system for guide robots in indoor environments. This paper proposes a self-localization system for guide robots. To successfully implement this study, images were collected from the perspective of a robot inside a room, and a deep learning system such as a convolutional neural network (CNN) was used. An image-based self-localization guide robot image-classification system delivers a more accura
... Show MoreThe fetal heart rate (FHR) signal processing based on Artificial Neural Networks (ANN),Fuzzy Logic (FL) and frequency domain Discrete Wavelet Transform(DWT) were analysis in order to perform automatic analysis using personal computers. Cardiotocography (CTG) is a primary biophysical method of fetal monitoring. The assessment of the printed CTG traces was based on the visual analysis of patterns that describing the variability of fetal heart rate signal. Fetal heart rate data of pregnant women with pregnancy between 38 and 40 weeks of gestation were studied. The first stage in the system was to convert the cardiotocograghy (CTG) tracing in to digital series so that the system can be analyzed ,while the second stage ,the FHR time series was t
... Show MoreIn this paper two main stages for image classification has been presented. Training stage consists of collecting images of interest, and apply BOVW on these images (features extraction and description using SIFT, and vocabulary generation), while testing stage classifies a new unlabeled image using nearest neighbor classification method for features descriptor. Supervised bag of visual words gives good result that are present clearly in the experimental part where unlabeled images are classified although small number of images are used in the training process.
Secondary trigeminal neuralgia (STN) results from an identifiable underlying pathology, including tumor compression, multiple sclerosis, arteriovenous malformations, hypertension, structural lesions, inflammation, trauma, or familial genetic conditions. This study, through a comprehensive review of the literature in PubMed, Google Scholar, Web of Science, and the Cochrane Library, explores the multifaceted aspects of STN. This study delves into the diverse etiological factors, focusing on the pathophysiological mechanisms that lead to trigeminal nerve dysfunction. The clinical manifestations of STN often overlap with those of primary trigeminal neuralgia, creating diagnostic challenges and necessitating a thorough evaluation that in
... Show MoreThe members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cytological changes were observed when the infected HeLa cells culture
... Show MoreThe members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cyt
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