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.
Judicial proceedings require the judge to activate and employ his intellectual and philosophical faculties in order to arrive at a truth that is as close as possible to factual reality, which constitutes the objective sought by all procedural legislations. Among the means to which the judge resorts, within the framework of procedural laws and for the purpose of achieving the highest possible degree of procedural effectiveness in the context of civil litigation, are the concept of legal fiction and the idea of purpose (teleology). Through these mechanisms, the judge confronts certain technical difficulties related to the drafting of some procedural rules, as well as practical difficulties associated with the application of the provisions of
... Show MoreThe current research aims to test the impact of the strategy of merger (as an explanatory variable) in human resources management practices (as a response variable), and the importance of the subject being an important topic that mimics the Iraqi environment, where has seen many mergers that have not been addressed by former researchers in the field. In addition, the future prospects carry many mergers, and the problem of research was the lack of understanding among departments in how to manage the integration and deal with it, on the basis of scientific which reflected negatively on the practices of human resources management, and the research was based on two main hypotheses Six sub-hypotheses emerge to explore the correlation
... Show MoreIt has become necessary to change from a traditional system to an automated system in production processes, because it has high advantages. The most important of them is improving and increasing production. But there is still a need to improve and develop the work of these systems.
The objective of this work is to study time reduction by combining multiple sequences of operations into one process. To carry out this work, the pneumatic system is designed to decrease\ increase the time of the sequence that performs a pick and place process through optimizing the sequences based on the obstacle dimensions. Three axes are represented using pneumatic cylinders that move according to the sequence used. The system is implemented and con
... Show MoreThis paper aims to study the damage generated due to creep-fatigue interaction behaviors in solid polyamide 6,6 and its composites that include 1%wt of carbon nanotubes or 30% wt short carbon fiber prepared by an injection technique. The investigation also includes studying the influence of applied temperatures higher than the glass transition temperatures on mechanical properties. The obtained results showed that the addition of reinforcement materials increased all the mechanical properties, while the increase in test temperature reduced all mechanical properties, especially for polyamide 6,6. The creep-fatigue interaction resistance also improved due to the addition of reinforcement materials by inc
... Show MoreTiO2 thin films were deposited by Spray Pyrolysis with thickness ((350±25) nm) onto glass substrates at (350°C), and the film was annealed at temperatures (400 and 500)°C. The structural and morphological properties of the thin films (TiO2) were investigated by X-ray diffraction, Field emission scanning electron microscopy and atomic force microscope. The gas sensor fabricated by evaporating aluminum electrodes using the annealed TiO2 thin films as an active material. The sensitivity of the sensors was determined by change the electrical resistance towards NO2 at different working temperatures (200
This Paper assesses the knowledge management system (KMS) requirements at Al-Ameed University concerning ISO 30401:2022. Specifically, the research aims to ascertain the degree to which international standards have been complied with and gaps that have been identified. A case study was conducted using field observations, interviews, and checklists to assess the institution's compliance with the KMS framework. The level of implementation and documentation of knowledge management processes was assessed using a seven-point scale. The findings reveal that Al-Ameed University has severe gaps in knowledge creation, sharing, and support for knowledge management in terms of strategic leadership. While certain elements like availability of r
... Show MorePolymer additives binder system provides many properties useful in thermal energy storage (TES) then developed the efficient energy storage materials and green strength bodies system.
This paper studies the thermal energy storage property for polyvinyl alcohol (PVOH) / paraffin wax (WPw) blends. To enhance paraffin wax thermal conductivity, PVOH as a material which high conductivity was employed. A fixed weight of Paraffin wax was dispersed with PVOH heterogeneously at different additive weights ratios of PVOH/Pw (50/50, 67/33, 75/25, and 80/20) wt. ratio respectively. The composite material was prepared using wetted pressing method.
Both base materials (polyvinyl alcohol and paraffin wax) were scanned using differential
... Show MoreThe massive growth of the automotive industry and the development of vehicles use lead to produce a huge amount of waste tire rubber. Rubber tires are non-biodegradable, resulting in environmental problems such as fire risks. In this search, the flexural behavior of steel fiber reinforced self-compacting concrete (SFRSCC) beams containing different percentages and sizes of waste tire rubbers were studied and compared them with the flexural behavior of SCC and SFRSCC. Micro steel fiber (straight type) with aspect ratio 65 was used in mixes. The replacement of coarse and fine aggregate was 20% and 10% with chip and crumb rubber. Also, the replacement of limestone dust and silica fume was 50%, 25%, and 12% with ground rubbe
... Show MoreIn this paper, the first integrals of Darboux type of the generalized Sprott ET9 chaotic system will be studied. This study showed that the system has no polynomial, rational, analytic and Darboux first integrals for any value of . All the Darboux polynomials for this system were derived together with its exponential factors. Using the weight homogenous polynomials helped us prove the process.
This paper shows an approach for Electromyography (ECG) signal processing based on linear and nonlinear adaptive filtering using Recursive Least Square (RLS) algorithm to remove two kinds of noise that affected the ECG signal. These are the High Frequency Noise (HFN) and Low Frequency Noise (LFN). Simulation is performed in Matlab. The ECG, HFN and LFN signals used in this study were downloaded from ftp://ftp.ieee.org/uploads/press/rangayyan/, and then the filtering process was obtained by using adaptive finite impulse response (FIR) that illustrated better results than infinite impulse response (IIR) filters did.