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 dangers of (Israel's) integration with Arab countries in the middle east region will threaten the Arab security structure dimension, which the latter makes the Arab regional system vulnerable for distortion due to its nominal and symbolic value which is far from the Arab self and questioning with its effectiveness in comparing with the real capabilities to Arab countries in achieving the common targets. So, how to assess the different problems that began to hit the structure of the Arab regional system? and how to pledge an allegiance after putting forward what is known as the American Deal of the Century for the administration of former US President Donald Trump for making another step toward normalization with (Israel)?. The reveal
... Show MoreThe widespread use of the Internet of things (IoT) in different aspects of an individual’s life like banking, wireless intelligent devices and smartphones has led to new security and performance challenges under restricted resources. The Elliptic Curve Digital Signature Algorithm (ECDSA) is the most suitable choice for the environments due to the smaller size of the encryption key and changeable security related parameters. However, major performance metrics such as area, power, latency and throughput are still customisable and based on the design requirements of the device.
The present paper puts forward an enhancement for the throughput performance metric by p
... Show Morea laser ablation Q-switched Nd: YAG laser with a wave-length of 355 nm at a variety of laser pulse energies (E) and deposited on porous silicon (PS). Optical emission spectrometer was used to diagnosed medium air to study gold plasma characteristics and prepared Au nanoparticles. The laser pulse energy influence has been studied on the plasma characteristics in air. The data showed the emergence of the ionic (Au II) spectral emission lines in the gold plasma emission spectrum. XRD has been utilized to examine structural characteristics. Moreover, AFM results 37.2 nm as the mean value of the diameter that is coordinated in a shape similar to the rod that appears for Au NPs, in addition to that, TEM has been an indication of the fact that syn
... Show MoreAromatic Schiff-bases are known to have antibacterial activity, but most of these compounds are sparingly soluble in water. The present work describes the synthesis of new Schiff-bases derived from branched aminosugars. Treatment of 3-Amino-3-Cyano-3-Deoxy-1,2:5,6-Di-O-Isopropylene-α-D-Allofuranose (1) with the aldehydes (2) under reflux in methanol afforded the Schiff-bases (3) in good yields. The new Schiff-bases were in accord with their NMR, IR spectral data and elemental analysis.
NH3 gas sensor was fabricated based on deposited of Functionalized Multi-Walled Carbon Nanotubes (MWCNTs-OH) suspension on filter paper substrates using suspension filtration method. The structural, morphological and optical properties of the MWCNTs film were characterized by XRD, AFM and FTIR techniques. XRD measurement confirmed that the structure of MWCNTs is not affected by the preparation method. The AFM images reflected highly ordered network in the form of a mat. The functional groups and types of bonding have appeared in the FTIR spectra. The fingerprint (C-C stretch) of MWCNTs appears in 1365 cm-1, and the backbone of CNTs observed at 1645 cm-1. A homemade sensi
... Show MoreThis research means a study (the impact of the Arab-Islamic environment on contemporary painting, the artist Abd al-Rahman al-Suleiman as a model). The research falls into two axes: the first: the theoretical axis, and the second: the applied axis. The first axis dealt with an introduction that contained: (the research problem, its importance, its goal, its limits, and the definition of terms). This research aims to uncover (the impact of the Arab-Islamic environment on contemporary painting, and the artist Suleiman was a model). And the research limits spatially: Saudi Arabia, and temporally: 2010-2014. This theme included two topics: The first: the characteristics of the Saudi environment and its impact on art. The second: the s
... Show MoreAbstract: The increased interest in developing new photonic devices that can support high data rates, high sensitivity and fast processing capabilities for all optical communications, motivates a pre stage pulse compressor research. The pre-stage research was based on cascading single mode fiber and polarization maintaining fiber to get pulse compression with compression factor of 1.105. The demand for obtaining more précised photonic devices; this work experimentally studied the behavior of Polarization maintaining fiber PMF that is sandwiched between two cascaded singe mode fiber SMF and fiber Bragg gratings FBG. Therefore; the introduced interferometer performed hybrid interference of both Mach-Zehnder
... Show MoreAbstract: In the present work, the heat transfer of Nano Aluminum Oxide -NAO- has been studied practically to define the appropriate insulation conditions. This study focuses on finding of the amount of heat transfer through a glass substrate that is coated with nanoalumina doped on PMMA matrix. The optical and thermal properties were systematically investigated. The density of heat flow rate, was calculated in the range values (240-260) W/m2 while the optimum values confine between (250-260) W/m2 at temp. (25-35)Co. The results showed that the thermal insulation of the sample was significantly enhanced at temp. (30-50)Co. The simulated net heat transfer through window decreased linearly with incr
... Show MoreThe existing investigation explains the consequence of irradiation of violet laser on the optic properties of (CoO2) films. The film was equipped by the utilization of semi-computerized spray pyrolysis technique (SCSPT), it is the first time that this technique is used in the preparation and irradiation using a laser in this technique. From the XRD analysis, the crystalline existence with trigonal crystal system was when the received films were processed by continuous violet laser (405 nm) with power (1W) for different laser irradiation time using different number of times a laser scan (0, 6, 9, 12, 15 and 18 times) with total irradiation time(0,30,45,60,75,90 min
This study investigates the impact of spatial resolution enhancement on supervised classification accuracy using Landsat 9 satellite imagery, achieved through pan-sharpening techniques leveraging Sentinel-2 data. Various methods were employed to synthesize a panchromatic (PAN) band from Sentinel-2 data, including dimension reduction algorithms and weighted averages based on correlation coefficients and standard deviation. Three pan-sharpening algorithms (Gram-Schmidt, Principal Components Analysis, Nearest Neighbour Diffusion) were employed, and their efficacy was assessed using seven fidelity criteria. Classification tasks were performed utilizing Support Vector Machine and Maximum Likelihood algorithms. Results reveal that specifi
... Show More