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.
A novel demountable shear connector for precast steel-concrete composite bridges is presented. The connector uses high-strength steel bolts, which are fastened to the top flange of the steel beam with the aid of a special locking nut configuration that prevents bolts from slipping within their holes. Moreover, the connector promotes accelerated construction and overcomes the typical construction tolerance issues of precast structures. Most importantly, the connector allows bridge disassembly. Therefore, it can address different bridge deterioration scenarios with minimum disturbance to traffic flow including the following: (1) precast deck panels can be rapidly uplifted and replaced; (2) connectors can be rapidly removed and replaced; and (
... Show MoreThe temperature control process of electric heating furnace (EHF) systems is a quite difficult and changeable task owing to non-linearity, time delay, time-varying parameters, and the harsh environment of the furnace. In this paper, a robust temperature control scheme for an EHF system is developed using an adaptive active disturbance rejection control (AADRC) technique with a continuous sliding-mode based component. First, a comprehensive dynamic model is established by using convection laws, in which the EHF systems can be characterized as an uncertain second order system. Second, an adaptive extended state observer (AESO) is utilized to estimate the states of the EHF system and total disturbances, in which the observer gains are updated
... Show MoreFire incidences are classed as catastrophic events, which mean that persons may experience mental distress and trauma. The development of a robotic vehicle specifically designed for fire extinguishing purposes has significant implications, as it not only addresses the issue of fire but also aims to safeguard human lives and minimize the extent of damage caused by indoor fire occurrences. The primary goal of the AFRC is to undergo a metamorphosis, allowing it to operate autonomously as a specialized support vehicle designed exclusively for the task of identifying and extinguishing fires. Researchers have undertaken the tasks of constructing an autonomous vehicle with robotic capabilities, devising a universal algorithm to be employed
... Show MoreThe conservation for biodiversity in Iraqi freshwater environments is important to protecting native species from the environmental impacts of alien species. Clarias gariepinus (Burchell, 1822) (Siluriformes, Clariidae) has been recognized as an alien species in Iraqi water bodies. This study aims to use molecular DNA to identify this catfish and trace its origins using. The DNA sequences of C. gariepinus were done using the mitochondrial DNA cytochrome c oxidase subunit 1 (COI) gene, and a specific primer set. The polymerase chain reaction (PCR) amplification was used to align the COI gene as a barcoding marker. After analysis, the sequences were compared with sequences in the National Center for Biology Information (NCBI) database
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