Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
This paper presents an improved technique on Ant Colony Optimization (ACO) algorithm. The procedure is applied on Single Machine with Infinite Bus (SMIB) system with power system stabilizer (PSS) at three different loading regimes. The simulations are made by using MATLAB software. The results show that by using Improved Ant Colony Optimization (IACO) the system will give better performance with less number of iterations as it compared with a previous modification on ACO. In addition, the probability of selecting the arc depends on the best ant performance and the evaporation rate.
This study involves the design of 24 mixtures of fiber reinforced magnetic reactive powder concrete containing nano silica. Tap water was used for 12 of these mixtures, while magnetic water was used for the others. The nano silica (NS) with ratios (1, 1.5, 2, 2.5 and 3) % by weight of cement, were used for all the mixtures. The results have shown that the mixture containing 2.5% NS gives the highest compressive strength at age 7 days. Many different other tests were carried out, the results have shown that the carbon fiber reinforced magnetic reactive powder concrete containing 2.5% NS (CFRMRPCCNS) had higher compressive strength, modulus of rupture, splitting tension, str
... Show MoreOne of the most essential components of asphalt pavements is the filler. It serves two purposes. First, this fine-grained material (diameter less than 0.075 mm) improves the cohesiveness of aggregate with bitumen. Second, produce a dense mixture by filling the voids between the particles. Aluminum dross (AD), which is a by-product of aluminum re-melting, is formed all over the world. This material causes damage to humans and the environment; stockpiling AD in landfills is not the best solution. This research studies the possibility of replacing part of the conventional filler with aluminum dross. Three percent of dross was used, 10, 20, and 30% by filler weight. The MarshallMix design method was adopted to obtain the op
... Show MoreThe woman represents an existential dualism with the man along history. This existence has been manifested through the history of Art starting from the arts of the old civilizations until modernism. It must be said that the history of Art refers to her presence as an extension for this history in the oriental arts, and the Arab countries including Iraq. The woman has varying outputs in terms of the content of her presence and the style of presentation. In her characterizations: maternity, fertility, femininity and others. The Iraqi artists adopted these fields among them the artist Jaber Alwan who formulated his style of presentation and its units depending on the feminine presence and his experience in her formal and stylistic fie
... Show MoreThis paper proposes a novel finite-time generalized proportional integral observer (FTGPIO) based a sliding mode control (SMC) scheme for the tracking control problem of high order uncertain systems subject to fast time-varying disturbances. For this purpose, the construction of the controller consists of two consecutive steps. First, the novel FTGPIO is designed to observe unmeasurable plant dynamics states and disturbance with its higher time derivatives in finite time rather than infinite time as in the standard GPIO. In the FTGPO estimator, the finite time convergence rate of estimations is well achieved, whereas the convergence rate of estimations by classical GPIO is asymptotic and slow. Secondly, on the basis of the finite and fast e
... Show MoreABSTRACT: Ultimate bearing capacity of soft ground reinforced with stone column was recently predicted using various artificial intelligence technologies such as artificial neural network because of all the advantages that they can offer in minimizing time, effort and cost. As well as, most of applied theories or predicted formulas deduced analytically from previous studies were feasible only for a particular testing environment and do not match other field or laboratory datasets. However, the performance of such techniques depends largely on input parameters that really affect the target output and missing of any parameter can lead to inaccurate results and give a false indicator. In the current study, data were collected from previous rel
... Show MoreThis study concerns the removal of a trihydrate antibiotic (Amoxicillin) from synthetically contaminated water by adsorption on modified bentonite. The bentonite was modified using hexadecyl trimethyl ammonium bromide (HTAB), which turned it from a hydrophilic to a hydrophobic material. The effects of different parameters were studied in batch experiments. These parameters were contact time, solution pH, agitation speed, initial concentration (C0) of the contaminant, and adsorbent dosage. Maximum removal of amoxicillin (93 %) was achieved at contact time = 240 min, pH = 10, agitation speed = 200 rpm, initial concentration = 30 ppm, and adsorbent dosage = 3 g bentonite per 1L of pollutant solution. The characterization of the adsorbent, modi
... Show MoreMedication safety and effectiveness can be improved through interprofessional collaboration. The goals of this study were to measure the degree of physician–pharmacist collaboration within Iraqi governmental healthcare settings and to investigate factors influencing this collaboration.
This cross-sectional study was conducted in Al-Najaf Province using the Collaborative Working Relationship Model and Physician–Pharmacist Collaborative Instrument (PPCI). Four phar