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.
In this study, the spreading of the pandemic coronavirus disease (COVID-19) is formulated mathematically. The objective of this study is to stop or slow the spread of COVID-19. In fact, to stop the spread of COVID-19, the vaccine of the disease is needed. However, in the absence of the vaccine, people must have to obey curfew and social distancing and follow the media alert coverage rule. In order to maintain these alternative factors, we must obey the modeling rule. Therefore, the impact of curfew, media alert coverage, and social distance between the individuals on the outbreak of disease is considered. Five ordinary differential equations of the first-order are used to represent the model. The solution properties of the system ar
... Show MoreReduction of noise and vibration in spur gear experimentally by using asymmetric teeth profiles with tip relief was presented. Both of classical (symmetric) and asymmetric (with and without tip relief) spur gears are used in this work. Gear test rig was constructed to achieve torsional vibration measuring, and two modified cutters are designed and manufactured to achieve tooth profile modifications. First to cut asymmetric gear tooth with pressure angles (14.5o/25 o) without tip relief for loaded and unloaded tooth sides respectively, and second to cut asymmetric gear tooth with pressure angles (14.5o/25 o) for loaded and unloaded tooth sides respectively with tip relief to ach
... Show MoreThe research discusses the need to find the innovative structures and methodologies for developing Human Capital (HC) in Iraqi Universities. One of the most important of these structures is Communities of Practice (CoPs) which contributes to develop HC by using learning, teaching and training through the conversion speed of knowledge and creativity into practice. This research has been used the comparative approach through employing the methodology of Data Envelopment Analysis (DEA) by using (Excel 2010 - Solver) as a field evidence to prove the role of CoPs in developing HC. In light of the given information, a researcher adopted on an archived preliminary data about (23) colleges at Mosul University as a deliberate sample for t
... Show MoreThe research aims to analysis the future profits of companies listed on the Iraq Stock Exchange through analyzing the relationship between Actual Growth and Sustainable Growth, The study was applied to the sample of companies included in the Iraq Stock Exchange for the period (2010- 2014), The Internal Growth Rate has been used as a measure for the Actual Return Rate but the Sustainable Growth Rate has been measured under the Rose model, The research showed group of conclusions, the most important are:1. From the analysis of sustainable growth for the banks sample and the variables involved in its measure shows that investment in the investors amounts have achieved a significant return, which demonstrates the company's efficiency at gene
... Show MoreBackground: Dorsal plication on each side of the penis at the 2 and 10-o’clock positions had been a mainstay for correction of ventral penile curvature. However, because only the 12-o’clock position proved to be a nerve-free zone, dorsal plication at the 12-o’clock position can be advocated.
Objectives: To evaluate tunica albuginea plication with and without neurovascular bundle mobilization in patients with ventral penile curvature. Type of the study: A prospective study.
Methods: A 34 patients with a mean age of (4.8 ± 0.54) years, Who still
Background: Errors of horizontal condylar inclinations and Bennett angles had largely affected the articulation of teeth and the pathways of cusps. The aim of this study was to estimate and compare between the horizontal condylar (protrusive) angles and Bennett angles of full mouth rehabilitation patients using two different articulator systems. Materials and Methods: Protrusive angles and Bennett angles of 50 adult males and females Iraqi TMD-free full mouth rehabilitation patients were estimated by using two different articulator systems. Arbitrary hinge axis location followed by protrusive angles and Bennett angles, estimation was done by a semiadjustable articulator system. A fully adjustable articulator system was utilized to locate th
... Show MoreIn this work, the antibacterial effectiveness of face masks made from polypropylene, against Candida albicans and Pseudomonas aeruginosa pathogenic was improved by soaking in gold nanoparticles suspension prepared by a one-step precipitation method. The fabricated nanoparticles at different concentrations were characterized by UV-visible absorption and showed a broad surface Plasmon band at around 520 nm. The FE-SEM images showed the polypropylene fibres highly attached with the spherical AuNPs of diameters around 25 nm over the surfaces of the soaked fibres. The Fourier Transform Infrared Spectroscopy (FTIR) of pure and treated face masks in AuNPs conform to the characteristics bands for the polypropylene bands. There are some differences
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