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 current work various types of epoxy composites were added to concrete to enhance its effectiveness as a gamma- ray shield. Four epoxy samples of (E/clay/B4C) S1, (E/Mag/B4C) S2, (EPIL) S3 and (Ep) S4 were used in a comparative study of gamma radiation attenuation properties of these shields that calculating using Mont Carlo code (MCNP-5). Adopting Win X-com software and Artificial Neural Network (ANN), µ/ρ revealed great compliance with MCNP-5. By applying (µ/ρ) output for gamma at different energies, HVL, TVL and MFP have been also estimated. ANN technique was simulated to estimate (µ/ρ) and dose rates. According to the results, µ/ρ of all epoxy samples scored higher than standard concrete. Both S2 and S3 samples having h
... Show MoreThe research was titled: Approval of the Imam of the Nuclear of Iraqis through the curriculum of the students.
The research revolves around the study of the weight of the imam nuclear jurisprudence in which the views of the Iraqi jurists of the Imam Shafi'i agreed through the book of students' approach to the nuclear imam, the research included a brief translation of the nuclear imam, and the definition of his place in the Shafi'i school, and then the definition of Iraqi jurists and then study the jurisprudence The course of research is only three issues, and compared with the views of imams, and the statement of the most correct opinion, and God and the conciliator.
researcher
Background: ?-L-Fucose is a methyl pentose sugar similar to L-galactose except for the loss of alcohol group on carbon number 6. The objective of this study is to evaluate the biochemical and antioxidant effect of intracrevicular injection of fucose into rabbits periodontium, throughout measuring the levels of total protein (TP), total fucose (TF), protein bound fucose PBF) , Malondialdehyde (MDA) , and vitamin C in sera of fucose injected rabbit groups. ) Materials and Methods: The existing study was carried out on 55 male rabbits and were divided randomly into three groups ; first group was injected with 50µl of 150mM fucose solution into gingival sulcus ; second group was injected with 50 µl of normal saline ; while the third group was
... Show MoreArrested precipitation methode used to synthesize CuInSe2 (CIS) nanocrystals were added to a hot solvent with organic capping ligands to control nanocrystal formation and growth. CIS thin films deposited onto Soda-Lima Glass (SLG) substrate by spray-coat, then selenized in Ar-atmosphere to form CIS thin films. PVs were made with power conversion efficiencies of 0.631% as-deposited and 0.846% after selenization, for Mo coated, under AM 1.5 illuminations. (XRD) and (EDX) it is evident that CIS have chalcopyrite structure as the major phase with a preferred orientation along (112) direction and Cu:In:Se nanocrystals is nearly 1:1:2 atomic ratio.
The study of the subject of (Egyptian public opinion on the Libyan revolution) came to reveal the role of Egyptian public opinion in mobilizing and solidarity for the masses. With the events witnessed by the Arab countries before the revolution, this was evident by the people 's attitudes towards the tripartite aggression against Egypt in 1956, and the June 1967 war, and the most recent what the Egyptian people showed towards the Libyan revolution. The Egyptian press followed the completion of the arms deal with France and revealed the ability of the Libyan negotiator to achieve moral gain, supported by Egyptian support to thwart the United States intentions to arm "Israel" similarly. The Egyptian people expressed a love for peace and su
... Show MoreA computational investigation is carried out to describe the behaviour of reflected electrons upon a charged insulator sample and producing mirror effect images. A theoretical expression for the scanning electron path equation is derived concerning Rutherford scattering and some electrostatic aspects. The importance of the derived formula come from its correlation among some of the most important parameters that controls the mirror effect phenomena. These parameters, in fact, are the trapped charges, incident angle and the scanning potential which investigated by considering its influences on the incident electrons. A pervious experimental operation requirements are adopted for operating the introduced expression. However, the obtained r
... Show MoreExperimental research was carried out to investigate the performance of CFRP wrapping jackets used for retrofitting twelve square reinforced concrete (CR) column specimens damaged by exposure to fire flame, at different temperatures of 300, 500 and 700ºC, except for two specimens that were not burned. The specimens were then loaded axially till failure after gradual or sudden cooling. The specimens were divided into two groups containing two main reinforcement ratios, ρ= 0.0314 and ρ= 0.0542. This was followed by the retrofitting procedure that included wrapping all the specimens with two layers of CFRP fabric sheets. The test results of the retrofitted specimens showed that the fire damaged RC
... Show MoreTwo of the main advantages of segmental construction are economics, as well as the rapid construction technique. One of the forms of segmental construction, for structural elements, is the segmental beams that built-in short sections, which referred to segments. This research aims to exhibit a new technique for the fabrication of short-span segmental beams from wedge-shaped concrete segments and carbon fiber reinforced polymers (CFRP) in laminate form. The experimental campaign included eight short-span segmental beams. In this study, two selected parameters were considered. These parameters are; the number of layers of CFRP laminates and the adhesive material that used to bond segments to each other, forming short-span segmental be
... Show MoreThe aim of this paper, is to study different iteration algorithms types two steps called, modified SP, Ishikawa, Picard-S iteration and M-iteration, which is faster than of others by using like contraction mappings. On the other hand, the M-iteration is better than of modified SP, Ishikawa and Picard-S iterations. Also, we support our analytic proof with a numerical example.
The performance of a batch undivided electrochemical reactor with a rotating cylinder electrode of woven-wire (60 mesh size), stainless steel 316, is examined for the removal of copper from synthetic solution of o.5 M sodium chloride containing 125 ppm at pH ≈ 3.5. The effect of total applied current, rotation speed on the figures of merit of the reactor is analyzed. For an applied current of 300 mA at 100 rpm, the copper concentration decreased from 125 to mg l-1 after 60 min of electrolysis with a specific energy consumption of 1.75 kWh kg-1 and a normalized space velocity of 1.62 h-1. The change in concentration was higher when the total applied currents were increased because of the turbulence
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