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.
KE Sharquie, AA Noaimi, AH Muhammad Ali, 2008 - Cited by 3
This paper proposes a new approach, of Clustering Ultrasound images using the Hybrid Filter (CUHF) to determine the gender of the fetus in the early stages. The possible advantage of CUHF, a better result can be achieved when fuzzy c-mean FCM returns incorrect clusters. The proposed approach is conducted in two steps. Firstly, a preprocessing step to decrease the noise presented in ultrasound images by applying the filters: Local Binary Pattern (LBP), median, median and discrete wavelet (DWT),(median, DWT & LBP) and (median & Laplacian) ML. Secondly, implementing Fuzzy C-Mean (FCM) for clustering the resulted images from the first step. Amongst those filters, Median & Laplace has recorded a better accuracy. Our experimental evaluation on re
... Show MoreCoeliac disease is an immunologically mediated disease of the small intestinal mucosa, characterized by flattening of the small intestinal villi, increased numbers of intra-epithelial lymphocytes and inflammatory cell infiltrates in the lamina propria, resulting in gut damage and nonspecific malabsorption of nutrients. The disease is elicited by ingestion of gluten, a protein found in several cereals, principally wheat, but also barley and to a lesser extent, oats. Successful treatment is avoidance of dietary gluten. Long-standing evidence suggests a T-cell-mediated response to peptides derived from the gliadin fraction of wheat gluten, leading to immunologically mediated intestinal injury in genetically susceptible individuals. The
... Show MoreForeign body embolization is a rare but serious iatrogenic complication that might necessitate transcatheter or even surgical retrieval. A broken double-lumen catheter was snared using a goose neck snare kit. The procedure was successful, and the patient experienced no further complications.
Anger is one of the problems of scientific importance that psychologists and education scientists are interested in, especially societies and educational environments, because if a child’s anger continues to develop into violence, then it becomes an unusual behavior, and an indication of the child's lack of adaptation to his family and his environment (Moses, 2013: 4) &n
... Show MoreObjectives: This study aims to determine the disease’s patterns and outcomes of admission among neonates hospitalized at the neonatal care unit in Erbil City, and using the findings as a baseline for neonate’s morbidity and mortality assessment in the future. Methodology: A retrospective study carried out at neonatal care unit of Raparin pediatric teaching hospital. An instrument for data collection developed by researcher included (age, gender, cause of admission, diagnosis and outcome upon discharge and causes of death). Content validity of the instrument was determined through the use of panel ex
The chronic renal disease is a principle common medical dilemma in Iraq. Peripheral arterial disease (PAD) is a prevalent infirmity in the hemodialysis people. The aim of present study was to estimate the prevalence of PAD in subjects with end-stage renal disease (ESRD). This cross-sectional study was done between January 2016 and May 2017 on ESRD subjects regularly attending renal dialysis unit in Al-Kindy teaching hospital in Baghdad, Iraq. PAD was diagnosed on the base of the ankle-brachial index (ABI) measured by using a hand-held Doppler ultrasound. Subjects with ABI ≤0.9 were supposed positive for PAD. A total of 150 ESRD cases were analyzed. The mean age of the subject was 49.52±15 years. Majority of them were males 87(58%). Most
... Show MoreThe research is concerned with the problems of knowledge purification of kindergarten children by verifying its aims, identifying of knowledge purification among the first level of kindergarten children and the second level of kindergarten children, and the differences between the males and females in the variable of knowledge purification. The research community included the children in the state and private kindergartens in Baghdad governorate, on its two sides, Karkh and Rusafa, for the six districts for the academic year 2022-2023. After making the knowledge purification test according to the scientific steps of test constructions, the test has been presented to a group of experts specialized in the field of kindergarten to ascertain
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