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 study aimed to prepare a nanocapsules formulation from the acetonic extract of Moringa oleifera leaves, using polymeric capsules, and test its toxicity against the third instar larvae of Culex pipiens mosquitoes. The leaf extract was prepared using acetone as a solvent, and the nano polymeric capsules were prepared using the synthetic polymer polyethylene glycol 4000. The results showed the successful preparation of nano polymeric capsules from the leaf extract, with an average particle size of 259.2 nm, and a nanocapsule diameter of 263.83 nm, as determined by DLS and SEM analysis, respectively. The toxicity results indicated that the nano polymeric capsules of the leaf extract exhibited higher mortality rates, reaching 97.6% a
... Show MoreA novel demountable shear connector is proposed to link a concrete slab to steel sections in a way that resulting steel-concrete composite floor is demountable, i.e. it can be easily dismantled at the end of its service life. The proposed connectors consist of two parts: the first part is a hollow steel tube with internal threads at its lower end. The second part is a compatible partially threaded bolted stud. After linking the stud to the steel section, the hollow steel tube can be fastened over the threaded stud, which create a complete demountable shear connector. The connector is suitable for use in both composite bridges and buildings, and using cast in-situ slabs, precast solid slabs, or hollow-core precast slabs. A series of push-off
... Show MoreDue to its importance in physics and applied mathematics, the non-linear Sturm-Liouville problems
witnessed massive attention since 1960. A powerful Mathematical technique called the Newton-Kantorovich
method is applied in this work to one of the non-linear Sturm-Liouville problems. To the best of the authors’
knowledge, this technique of Newton-Kantorovich has never been applied before to solve the non-linear
Sturm-Liouville problems under consideration. Accordingly, the purpose of this work is to show that this
important specific kind of non-linear Sturm-Liouville differential equations problems can be solved by
applying the well-known Newton-Kantorovich method. Also, to show the efficiency of appl
Geologic modeling is the art of constructing a structural and stratigraphic model of a reservoir from analyses and interpretations of seismic data, log data, core data, etc. [1].
A static reservoir model typically involves four main stages, these stages are Structural modeling, Stratigraphic modeling, Lithological modeling and Petrophysical modeling [2].
Ismail field is exploration structure, located in the north Iraq, about 55 km north-west of Kirkuk city, to the north-west of the Bai Hassan field, the distance between the Bai Hassan field and Ismael field is about one kilometer [3].
Tertiary period reservoir sequences (Main Limestone), which comprise many economica
... Show MoreDiesel engine oil was subjected to thermal oxidization (TO) for six periods of time (0 h, 24 h, 48 h, 72 h, 96 h, and 120 h) and was subsequently characterized by terahertz time domain spectroscopy (THz-TDS). The THz refractive index generally increased with oxidation time. The measurement method illustrated the potential of THz-TDS when a fixed setup with a single cuvette is used. A future miniaturized setup installed in an engine would be an example of a fixed setup. For the refractive index, there were highly significant differences among the oxidation times across most of the 0.3–1.7 THz range.
The absence of ecological perception in the local urbanization resulted in the lack of a clear conception of achieving sustainability in its simplest form in the urban reality and in the city of Baghdad in particular. The research assumes the possibility of achieving urban sustainability in Iraqi cities by applying the cities for the most effective methods to implemented ecological solutions and introducing appropriate urban planning tools and improve the living environment. The research focuses on the ability to define some aspects to achieve a sustainable local urban identity from global experiences. This was performed by proposing a scheduled theoretical framework, through which th
The sustainable environmental neighborhoods is sustainable development of neighborhoods that include considerations related to transport, density, urban forms, and environmental buildings and especially those related to social and functional integration, and civil society participation, This standard, which did not attract the attention of specialists in the 1990s, has today become a center of attention for all those interested in urbanism and sustainability. The problem of the research is the existence of urban problems in residential neighborhoods that lead to lack of sustainability in the city, and the research aims to explain the role and importance of environmental sustainability
Image compression is a serious issue in computer storage and transmission, that simply makes efficient use of redundancy embedded within an image itself; in addition, it may exploit human vision or perception limitations to reduce the imperceivable information Polynomial coding is a modern image compression technique based on modelling concept to remove the spatial redundancy embedded within the image effectively that composed of two parts, the mathematical model and the residual. In this paper, two stages proposed technqies adopted, that starts by utilizing the lossy predictor model along with multiresolution base and thresholding techniques corresponding to first stage. Latter by incorporating the near lossless com
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