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.
A total of 437 individuals of Turbellarin Platyhelminthes were sorted from benthic samples collected monthly for a period of seven months( April to November 2013 ) from AL-Dalmage lake, a part of middle section for main outfall drain south of Baghdad. They were identified as Gyratrix hermaphroditus, Stenostomum leucops ,Stenostomum unicolar and Stenostomum bryophilum ,The relative abundance of worms decreased during hot season which (May to September) ,where they start rising again. The species were studied alive , the identification criteria were illustrated by photos. G. hermaphroditus was the most abundant species among the four species.
Support vector machine (SVM) is a popular supervised learning algorithm based on margin maximization. It has a high training cost and does not scale well to a large number of data points. We propose a multiresolution algorithm MRH-SVM that trains SVM on a hierarchical data aggregation structure, which also serves as a common data input to other learning algorithms. The proposed algorithm learns SVM models using high-level data aggregates and only visits data aggregates at more detailed levels where support vectors reside. In addition to performance improvements, the algorithm has advantages such as the ability to handle data streams and datasets with imbalanced classes. Experimental results show significant performance improvements in compa
... Show MoreWorldwide, there is an increased reliance on COVID-19-related health messages to curb the COVID-19 outbreak. Therefore, it is vital to provide a well-prepared and authentic translation of English-language messages to reach culturally and linguistically diverse audiences. However, few studies, if any, focus on how non-English-speaking readers receive and linguistically accept the lexical choices in the messages translated into their language. The present study tested a sample of translated Arabic COVID-19-related texts that were obtained from the World Health Organization and Australian New South Wales Health websites. This study investigated to that extent Arabic readers would receive translated COVID-19 health messages and whether the t
... Show MoreSuppose that
The selection and assessment of single-photon detection modules is a crucial problem in satellite-based QKD systems. The system's overall efficiency, secure key rate and quantum bit error rate are all significantly influenced by single-photon detection modules. There is a knowledge gap about the practical performance of commercially available single-photon detectors because existing research frequently relies on theoretical characteristics. This paper introduces a study on the effect of the parameters of three commercial single photon detection modules from ID Quantique company: ID Qube, ID100, and ID281 on certain Bennett-Brassard 1984 protocol parameters such as secure key rate, mean photon number per pulse, quantum bit error rate
... Show MoreThe charge transfer at C23H17F8N8O2PRu, C44H30BF4N5O4Ru, C56H52CL5N5OOsP2 and C76H88F80N24O11P10Ru4 nitrosyl complexes are investigation and studies theoretically using the quantum consideration. Charge transfer behavior largely rely to the electric properties of nitrosyl complexes system whose depending on the main important parameters for the transmission rate constant such that: orientation transition energy, overlapping coupling coefficient, driving force energy, height barrier and Temperature T (K). Data results have been evaluated using a MATLAB program. Results show that rate of charge transfer increases due to increases the orientation transition energy.
the research ptesents a proposed method to compare or determine the linear equivalence of the key-stream from linear or nonlinear key-stream
The adsorption isotherms and kinetic uptakes of CO2 were measured. Adsorption isotherms were measured at two temperatures 309 K and 333 K and over a pressure range of 1 to 7 bar. Experimental data of CO2 adsorption isotherms were modeled using Langmuir, Freundlich and Temkin. Based on coefficient of correlation it was found that Langmuir isotherm model was well suited with the experimental data of CO2 adsorption isotherms. In addition, Adsorption kinetic of CO2 mixture with N2 containing 10 % by volume CO2 and 90 % by volume N2 were determined in a temperature 36 °C and under the atmospheric pressure .When the flow rate was increased from
... Show MoreThirty uropathogenic E. coli isolates were isolated from hospitalized and non hospitalized patients, complaining of urinary tract infections, of Al-Kadhymia Teaching Hospital and subjected to tRNA extraction. A method of tRNA extraction was modified by adding sodium dodecyl sulfate (SDS) instead of urea. Polyacrylamide gel electrophoresis and two methods of staining, ethidium bromide staining and silver staining, as well as spectrophotometric detection were used.