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 the present work a comparative study for thermal and electrical performance of different hybrid photovoltaic/thermal collectors designs for Iraq climate conditions have been carried out. Four different types of air based hybrid PV/T collectors have been manufactured and tested. Three collectors consist of four main parts namely, channel duct, glass cover, axial fan to circulate air and two PV panels in parallel connection. The measured parameters are, the temperature of the upper and the lower surfaces of the PV panels, air temperature along the collector, air flow rate, pressure drop, power produced by solar cell, and climate conditions such as wind speed, solar radiation and ambient temperature. The thermal and hydraulic performances o
... Show MoreIn this research work, a new type of concrete based on sulfur-melamine modification was introduced, and its various properties were studied. This new type of concrete was prepared based on the sulfur-melamine modification and various ingredients. The new sulfur-melamine modifier was fabricated, and its fabrication was confirmed by IR spectroscopy and TG analysis. The surface morphology resulted from this modifier was studied by SEM and EDS analysis. The components ratios in concrete, chemical and physical characteristics resulted from sulfur-melamine modifier, chemical and corrosion resistance of concrete, stability of concrete against water adsorption, stability of concrete against freezing, physical and mechanical properties and durabi
... Show MoreThis experimental study focuses on scouring in box culvert inlets under steady-state conditions and at different percentages of blockage ranging from 0% to 65%, and also looks at the hydraulics of water in the culvert. The investigation shows that the blockage of the culverts has influenced the scouring pattern at the blocked culverts' entrances. Ten experiments were carried out at the laboratory to see how blockage impacts the scouring pattern upstream of a box culvert during steady flow. Both partially blocked and unblocked cases were implemented in this study. The experimental tests were done until the equilibrium scour occurred, which took about 3.5 hours of water flow to reach equilibrium conditions. The results r
... Show MoreOne of the principle concepts to understand any hydrocarbon field is the heterogeneity scale; This becomes particularly challenging in supergiant oil fields with medium to low lateral connectivity and carbonate reservoir rocks.
The main objectives of this study is to quantify the value of the heterogeneity for any well in question, and propagate it to the full reservoir. This is a quite useful specifically prior to conducting detailed water flooding or full field development studies and work, in order to be prepared for a proper design and exploitation requirements that fit with the level of heterogeneity of this formation.
This study examined the correlation between binder-level fatigue properties and mixture-level cracking resistance in asphalt binders modified with five Nanomaterials (NMs): Nano-Silica (NS), Nano-Alumina (NA), and Nano-Titanium dioxide (NT) at 2%, 4%, and 6% as well as Nano-Zinc oxide (NZ) and Carbon Nanotubes (CNTs) at 1%, 2%, and 3%. Modified binders were subjected to Rolling Thin-Film Oven Test (RTFOT) and Pressure Aging Vessel (PAV) aging and tested at 25 °C using the Linear Amplitude Sweep (LAS) test to determine fatigue life (Nf) and the fatigue parameter G*.sin δ. The corresponding asphalt mixtures were evaluated using the IDEAL-CT test. The results indicated strong correlations between binder and mixture performance for
... Show MoreCarbon-fiber-reinforced polymer (CFRP) is widely acknowledged as a leading advanced material structure, offering superior properties compared to traditional materials, and has found diverse applications in several industrial sectors, such as that of automobiles, aircrafts, and power plants. However, the production of CFRP composites is prone to fabrication problems, leading to structural defects arising from cycling and aging processes. Identifying these defects at an early stage is crucial to prevent service issues that could result in catastrophic failures. Hence, routine inspection and maintenance are crucial to prevent system collapse. To achieve this objective, conventional nondestructive testing (NDT) methods are utilized to i
... Show MoreAn experimental study is made here to investigate the discharge coefficient for contracted rectangular Sharp crested weirs. Three Models are used, each with different weir width to flume width ratios (0.333, 0.5, and 0.666). The experimental work is conducted in a standard flume with high-precision head and flow measuring devices. Results are used to find a dimensionless equation for the discharge coefficient variation with geometrical, flow, and fluid properties. These are the ratio of the total head to the weir height, the ratio of the contracted weir width to the flume width, the ratio of the total head to the contracted width, and Reynolds and Weber numbers. Results show that the relationship between the discharge co
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