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 investigation aimed to explain the mechanism of MFCA by applying this method on air-cooled engine factory which was suffering from high production cost. The results of this study revealed that MFCA is a useful tool to identify losses and inefficiencies of the production process. It is found that the factory is suffering from high losses due to material energy and system losses. In conclusion, it is calculated that system losses are the highest among all the losses due to inefficient use of available production capacity.
Objectives: To evaluate the incidence of adhesions
induced intestinal obstruction after explorative laparotomy
due to bullet/shell injury in Al-Kindi teaching
hospital/Baghdad.
Results: Thirty-six out of the 76 cases with adhesions
induced intestinal obstruction (A.I.I.O.) had history of
laparotomy for penetrating missile injury, 26 of them were
explored as a method of management of A.I.I.O. with
mean age (22 for those explored, ٣٧ for those treated
conservatively), 16 of them presented within a year or less
from the previous surgery.
Methods: Comparative interventional prospective study of
cases with adhesions induced intestinal obstruction
admitted to the surgical wards in Al-Kindi teaching
h
Chitosan-schiff base with three different ratios of para-Dimethyl aminobenzaldehyde& chitosan Schiff base hydrogels have been prepared for controlled drug release study. The synthesized chitosan Schiff base and chitosan Schiff base hydrogel were characterized by FT-IR, UV-Visible, SEM, analysis. Swelling properties of the hydrogel were investigated at three different media pH (2, 7, 10). The swelling degree varied with the pH, amount of crosslinking agent glutaraldehyde and with the amount of paraDimethylaminobenzaldehyde for the hydrogels. All hydrogels were used for controlled drug release system. Aspirin was used as model drug, in three different buffer solution (2, 7, 10) as release media. The rate of release of drugs in the pH2 is more
... Show MoreThis study is dedicated to solving multicollinearity problem for the general linear model by using Ridge regression method. The basic formulation of this method and suggested forms for Ridge parameter is applied to the Gross Domestic Product data in Iraq. This data has normal distribution. The best linear regression model is obtained after solving multicollinearity problem with the suggesting of 10 k value.
The legal nature of the Build-Operate-Transfer-Ownership Contract (B.O.T) The Build, Operate, and Transfer of Ownership Contract (BOT) has emerged as the most successful and safest method for involving the private sector in public sector services. The major infrastructure projects that are built through the BOT contract are no longer financed by the state and its budget, but the private sector has played a major role in financing These projects, especially developing countries that need to establish infrastructure or modernize their existing infrastructure, especially in the areas of transport, communications, services, electricity, water ..... and other public utilities.
The cuneiform texts considered one of the most important resources which play an important role help us to know how was the economic , politic and religious manner and every thing have relation of the history of Mesopotamia which contain many of information that enrich our knowldgement every side of Mesopotamia civilization since using writing as away to register the science and human knowldgement . The city of Sippar (Abu –Habba ) was one of most important city of ancient Mesopotamia which mentioned as one of first five Mesopotamian cities found before floating and it exposed through excavating rich one of them tablet which some of it dated to old Babylon period . The king Ammi-Saduqa has a big share of tablet we study number of thi
... Show MoreCoaxial (wire-cylinder) electrodes arrangements are widely used for electrostatic deposition of dust particles in flue gases, when a high voltage is applied to electrodes immersed in air and provide a strongly non-uniform electric field. The efficiency of electrostatic filters mainly depends on the value of the applied voltage and the distribution of the electric field. In this work, a two-dimensional computer simulation was constructed to study the effect of different applied voltages (20, 22, 25, 26, 28, 30 kV) on the inner electrode and their effect on the efficiency of the electrostatic precipitator. Finite Element Method (FEM) and COMSOL Multiphysics software were used to simulate the cross section of a wire cylinder. The results sh
... Show MoreStudy of the development of an activated carbon nanotube catalyst for alkaline fuel cell technology. Through the prepared carbon nanotubes catalyst by an electrochemical deposition technique. Different analytical approaches such as X-ray diffraction (XRD) to determine the structural properties and Scanning Electron Microscope (SEM), were used to characterize, Mesh stainless steel catalyst substrate had an envelope structure and a large surface area. Voltages were also obtained at 1.83 V and current at 3.2 A of alkaline fuel cell. In addition, study the characterization of the electrochemical parameters.
The present study included the physico-chemical parameters of Lesser-Zab river and its effects on Tigris river. Monthly water samples were taken from the two rivers during January to October 1999.There were no signifcant difference in water temperatures. Both rivers were fresh to oligohalin, alkaline and very hard. Close values were determined in total suspended solids in both rivers with little increasing during rainfall period and high discharge. Water was well areated and over saturation was recorded in several occasions. Dissolved oxygen values of Tigris river were influenced by Lesser-Zab. Cations were more dominant than anions in both rivers. In Lesser-Zab, the anions were increased during spring season and declined in summer which t
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