Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
The knowledge related with lexical items can be realized as including relations of meaning a cross words. Words that share a similarity of meaning are called to be synonymous, and words that share a contrary of meaning are called to be antonymous. Both of them are universal linguistic phenomenon that exist in terms of linguistic system of every language. The present study aims at finding out areas of difficulty that Iraqi EFL learners encounter in the use of synonymy and antonymy, both on the recognition and production levels. Also tries to detect the main reasons behind such difficulties. A diagnostic test of two parts, namely, recognition and production, is designed. The test is built to include two linguistic phenomenon which are: synony
... Show MoreResearch studies show that urban green spaces promote physical activity, the health of urban residents, and psychological well-being. Taking the community park in Duhok city as the research object, the spatial service area in terms of accessibility of to the Community Park under the mode of pedestrian transportation is analyzed by using the network analysis service area function of the geographic information system (GIS). The results show that under the walking mode in the research area, Parks are concentrated in the north and south of the city, but community parks are few in disadvantaged neighborhoods. In addition, there is a significant disparity between the number of community parks and the number of communities. Only 11 communities
... Show MoreThe general aim of an experimental design in this paper was to estimate the different treatments effects on the responses by statistical methods. The estimates must be averting biases and the random errors minimized as much as possible. We used multivariate analysis of variance (MANOVA) to analyze design of experiments for several responses. In this paper, we provided three fertilizers (mineral, humic, micro-elements) applied on Yellow Maize experiment. This experiment was conducted by completely randomized design (CRD). We tested four responses (Chlorophyll in paper, total ton / ha, paper area / cm2 and plant height / cm) together to find significant test between them. The partial correlations are between Chlorophyll in paper and total ton
... Show MoreThe goal of current research to identify the implications of intellectual and psychological drawings of women in prison in Sulaimaniya province through her paint and collected through cooperation with the creativity of the development organization of women in Sulaimaniya, consisted search of five chapters, the first chapter contains the goals of the research and its problem and its significance in addition to its limits and determine the terminology, while the second chapter included the theoretical framework and the literature on the subject of the search, and in the third quarter where he explained the researchers research methodology and procedures, either in the fourth quarter may offer researchers graphics prisoners and then read th
... Show MoreThe objectives of this study revolve around identifying the extent of funding impact on the future of the printed Iraqi press, and whether it threatens their chances of survival, stating the extent of technological development on the income of the printed newspaper, and identifying the causes of the financial crisis on the newspaper. This research is classified as descriptive research, and the researcher used the survey method, and adopted the questionnaire of the views of the contactors, in five Iraqi newspapers (morning - extent - time - the way of the people - the call). The research community included (68) respondents, whereby the comprehensive inventory method was used to define the research community, and the researcher used t
... Show MoreThe objectives of this study revolve around identifying the extent of funding impact on the future of the printed Iraqi press, and whether it threatens their chances of survival, stating the extent of technological development on the income of the printed newspaper, and identifying the causes of the financial crisis on the newspaper.
This research is classified as descriptive research, and the researcher used the survey method, and adopted the questionnaire of the views of the contactors, in five Iraqi newspapers (morning - extent - time - the way of the people - the call).
The research community included (68) respondents, whereby the comprehensive inventory method was used to define the research community, and the researcher used
The study aims to find out the extent to which several Iraqi institutional accreditation standards (governance and administration, scientific research, curricula) are applied in two public universities (Baghdad and Middle Technical University) and two private universities (Uruk and Al-Mansour College) by diagnosing strengths and weaknesses and proposing a mechanism and procedures to help educational institution aims to reduce or eliminate the gap. The study stems from the extent of application of several Iraqi institutional accreditation standards represented as it was worked on through observation and field coexistence to reach scientific and practical facts. The method of case study and comparison betwe
... Show MoreBackground: Type two diabetic patients have higher risk of cardiovascular and periodontal disease. Furthermore, patients with more severe periodontal disease have higher incidence of cardiovascular disease. This study aimed to assess the association between periodontal health status and the risk of vascular disease in type 2 diabetic patients. Materials and Methods: One hundred type 2 diabetes mellitus patients and fifty apparently healthy males were enrolled in this study. Oral examinations conducted were; plaque Index, calculus index, gingival index, probing pocket depth, and clinical attachment level. For the assessment of vascular risk, arterial stiffness index was used. Results: According to arterial stiffness index, type 2 diabetic p
... Show MoreThe proposal of nonlinear models is one of the most important methods in time series analysis, which has a wide potential for predicting various phenomena, including physical, engineering and economic, by studying the characteristics of random disturbances in order to arrive at accurate predictions.
In this, the autoregressive model with exogenous variable was built using a threshold as the first method, using two proposed approaches that were used to determine the best cutting point of [the predictability forward (forecasting) and the predictability in the time series (prediction), through the threshold point indicator]. B-J seasonal models are used as a second method based on the principle of the two proposed approaches in dete
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