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.
This study is aimed to use the aerobic packed bed in biotreatment of the wastewater which is discharge from AL-KARAMA teaching hospital in Baghdad. The performance of packed-bed treatment method was examined for elimination of the organic compounds from wastewater under aerobic conditions. In this research different parameters were studied. They were: inoculums concentration, circulation rate of wastewater through the bed, packing type and the temperature. Results showed that the system efficiently removed about 82% of the chemical oxygen demand (COD) and 80% of the Biological oxygen demand (BOD). Percent reduction in turbidity was about 92% and reduction in nitrate concentration was about 87%. It was found that best performance of the pack
... Show MoreAbstract:Two-dimensional crystal has been achieved and controlled with the aid of DC electric field applied between two electrodes at 5 millimeters separating distance between them. Sol-gel method has been used to prepared nanosilica particle which used in this work as well as TiO2 nanopaowder. The assembly of the silica particles is due to the interaction between the electrical force, the particles dipole, and the interaction between the particles themselves. When a DC voltage is applied, the particles accumulated and crystallized on the surface between the electrodes. The Light diffraction demonstrates that the hexagonal crystal is always oriented with one axis along the direction of the field. The particles disassemble when the field is
... Show MoreThe current research aims to measure the job satisfaction of educational counselors in the general directorate of education of the second Rusafa in the ministry of education of Iraq. Moreover, it aims to identify the significant differences in job satisfaction according to the gender (Male-Female), the length of service (less than 15 years more than 15 years), and the relationship between these two variables. To achieve the objectives of the research, the researcher developed a scale to measure job satisfaction. This tool was applied to sample of (100) educational counselors selected randomly. The results showed that educational counselors have job satisfaction, in which males are more satisfied in their job than females. The results als
... Show MoreTwitter is becoming an increasingly popular platform used by financial analysts to monitor and forecast financial markets. In this paper we investigate the impact of the sentiments expressed in Twitter on the subsequent market movement, specifically the bitcoin exchange rate. This study is divided into two phases, the first phase is sentiment analysis, and the second phase is correlation and regression. We analyzed tweets associated with the Bitcoin in order to determine if the user’s sentiment contained within those tweets reflects the exchange rate of the currency. The sentiment of users over a 2-month period is classified as having a positive or negative sentiment of the digital currency using the proposed CNN-LSTM
... Show MoreReservoir study has been developed in order to get a full interesting of the Nahr Umr formation in Ratawi oil field. Oil in place has been calculated for Nahr Umr which was 2981.37 MM BBL. Several runs have been performed to get matching between measured and calculated of oil production data and well test pressure. In order to get the optimum performance of Nahr Umr many strategies have been proposed in this study where vertical and horizontal wells were involved in addition to different production rates. The reservoir was first assumed to be developed with vertical wells only using production rate of (80000–125000) STB/day. The reservoir is also proposed to produce using horizontal wells besides vertical wells with pr
... Show MoreRoom temperature ionic liquids show potential as an alternative to conventional organic membrane solvents mainly due to their properties of low vapour pressure, low volatility and they are often stable. In the present work, the technical feasibilities of room temperature ionic liquids as bulk liquid membranes for phenol removal were investigated experimentally. In this research several hydrophobic ionic liquids were synthesized at laboratory. These ionic liquids include (1-butyl-3-methylimidazolium bis (trifluoromethylsulfonyl) imide[Bmim][NTf2], 1-Hexyl-3-methylimidazolium bis (trifluoromethylsulfonyl) imide[Hmim][NTf2], 1-octyl-3-methylimidazolium bis (trifluoromethylsulfonyl)imide[Omim][NTf2],1‐butyl
... Show MoreConservative pipes conveying fluid such as pinned-pinned (p-p), clamped–pinned (c-p) pipes and clamped-clamped (c-c) lose their stability by buckling at certain critical fluid velocities. In order to experimentally evaluate these velocities, high flow-rate pumps that demand complicated fluid circuits must be used.
This paper studies a new experimental approach based on estimating the critical velocities from the measurement of several fundamental natural frequencies .In this approach low flow-rate pumps and simple fluid circuit can be used.
Experiments were carried out on two pipe models at three different boundary conditions. The results showed that the present approach is more accurate for est
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Electric arc furnace applications in industry are related to position system of its pole, up and down of pole. The pole should be set the certain gap. These setting are needed to calibrate. It is done manually. In this research will proposed smart hydraulic to make this pole works as intelligent using proportional directional control valve. The output of this research will develop and improve the working of the electric arc furnace. This research requires study and design of the system to achieve the purpose and representation using Automation Studio software (AS), in addition to mathematically analyzed and where they were building a laboratory device similar to the design and conduct experiments to stud
... Show MoreIn this paper, an adaptive integral Sliding Mode Control (SMC) is employed to control the speed of Three-Phase Induction Motor. The strategy used is the field oriented control as ac drive system. The SMC is used to estimate the frequency that required to generates three phase voltage of Space Vector Pulse Width Modulation (SVPWM) invertor . When the SMC is used with current controller, the quadratic component of stator current is estimated by the controller. Instead of using current controller, this paper proposed estimating the frequency of stator voltage since that the slip speed is function of the quadratic current . The simulation results of using the SMC showed that a good dynamic response can be obtained under load
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