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.
Training has an effect on employees’ performances. Accordingly, the person who is responsible for employees’ development must figure out the most effective way to train and develop employees. Central Michigan University (CMU) has recognized the importance of providing appropriate training for employees who have a duty in advising students. The reason is that these employees have a significant impact on students’ educational performances. Thus, special attention to this category of employees is needed to improve advising quality. This research attempted to explore the impact of training on academic advising at CMU. Face-to-face interviews and online surveys were used as data collection tools for this study. The study scope c
... Show MoreIn this paper, a new analytical method is introduced to find the general solution of linear partial differential equations. In this method, each Laplace transform (LT) and Sumudu transform (ST) is used independently along with canonical coordinates. The strength of this method is that it is easy to implement and does not require initial conditions.
Polyacrylonitrile nanofiber (PANFS), a well-known polymers, has been extensively employed in the manufacturing of carbon nanofibers (CNFS), which have recently gained substantial attention due to their excellent features, such as spinnability, environmental friendliness, and commercial feasibility. Because of their high carbon yield and versatility in tailoring the final CNFS structure, In addition to the simple formation of ladder structures through nitrile polymerization to yield stable products, CNFS and PAN have been the focus of extensive research as potential production precursors. For instance, the development of biomedical and high-performance composites has now become achievable. PAN homopolymer or PAN-based precursor copol
... Show MoreThis paper proposes a new structure for a Fractional Order Sliding Mode Controller (FOSMC) to control a Twin Rotor Aerodynamic System (TRAS). The new structure is composed by defining two 3-dimensional sliding mode surfaces for the TRAS model and introducing fractional order derivative integral in the state variables as well as in the control action. The parameters of the controller are determined so as to minimize the Integral of Time multiplied by Absolute Error (ITAE) performance index. Through comparison, this controller outperforms its integer counterpart in many specifications, such as reducing the delay time, rise time, percentage overshoot, settling time, time to reach the sliding surface, and amplitude of chattering in control inpu
... Show MoreChloroacetamide derivatives (2a-g) have been prepared through reaction of chloroacetyl chloride(1) (which prepared by the reaction of chloroacetic acid with thionyl chloride) with primary aromatic amines and sulfa compounds to afford compounds (2a-g) which then reacted with p-hydroxy benzaldehyde via Williamson reaction to obtaine the new compounds 2-(4-formyl phenoxy)-N-aryl acetamide (3a-g). Finally , compounds (3a-g) will be use as a good synthon to prepare the Schiff bases represented by compounds 2-(4-aryliminophenoxy)-N-arylacetamide (4a-g). through , reaction with some primary aromatic amine. All the prepared compounds were investigated by the available physical and spectroscopic methods.
This paper describes the application of consensus optimization for Wireless Sensor Network (WSN) system. Consensus algorithm is usually conducted within a certain number of iterations for a given graph topology. Nevertheless, the best Number of Iterations (NOI) to reach consensus is varied in accordance with any change in number of nodes or other parameters of . graph topology. As a result, a time consuming trial and error procedure will necessary be applied
to obtain best NOI. The implementation of an intellig ent optimization can effectively help to get the optimal NOI. The performance of the consensus algorithm has considerably been improved by the inclusion of Particle Swarm Optimization (PSO). As a case s
Abstract
This study came to clarify the redemption in terms of being a method and a subject of knowledge that has its causes, controls, etiquette and scientific implications for Muslim scholars.
The science of redemption has a historical extension, starting from the era of the Companions - may God be pleased with them - and through the stages of codification and classification of works in an effort to document it and diversify its methods at the inductive, analytical, critical and argumentative levels, and to determine its causes and from the completion of the research conclude it with evidence of its scientific effects because it is a science that enriched the Islamic library in general, and hadith in particular.
The performance of a solar assisted desiccant cooling system for a meeting-hall located in the College of Engineering/University of Baghdad was evaluated theoretically. The system was composed of four components; a solar air heater, a desiccant dehumidifier, a heat exchanger and an evaporative cooler. A computer simulation was developed by using MATLAB to assess the effect of various design and operating conditions on the performance of the system and its components. The actual weather data on recommended days were used to assess the load variation and the system performance during those days. The radiant time series method (RTS) was used to evaluate the hourly variation of the cooling load. Four operation modes were employed for perform
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