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.
An indoor spraying robot is built in this research to solve numerous challenges associated with manual spraying. The mechanical, hardware and essential technologies used are all detailed and designed. The proposed spraying robot's conceptual design is split into two parts: hardware and software. The mechanical design, manufacturing, electrical, and electronics systems are described in the hardware part, while the control of the robot is described in the software section. This robot's kinematic and dynamic models were developed using three links that move in the x, y, and z directions. The robot was then designed using SolidWorks software to compute each connection's deflection and maximum stresses. The characteristics of the stepper moto
... Show MoreThe present research aimed to study the polymorphisms of the chicken insulin-like growth factor 2 (IGF2) in two commercial broiler breeds (Cobb 500 and Hubbard F-15). In total, 300 avian blood samples were obtained. The genomic DNA was isolated using a fast salt-extraction technique. Moreover, polymerase chain reaction (PCR) was used to amplify 1146 bp fragments of the gene. The amplified fragments were subjected to restriction enzyme digestion using the HinfI endonuclease enzyme, and the digested products were separated on a 2% agarose gel. The findings indicated that there were two alleles, T and C, for the target locus, with frequencies of 73.3% and 26.7%, respectively. Three distinct genotype variations, TT, TC, and CC, were found, with
... Show MorePraise be to God, who created people from one soul, and made her husband, and prayers and peace be upon His Messenger, Mercy given and the grace given, and on a machine and companions pure. Divorce cases have increased in recent years in a worrying manner, especially since divorce has unforeseen consequences at the individual and social levels. The source of concern stems from the fact that the cohesion and integrity of society starts from a family as it is the cornerstone of the social structure, which is the foundation upon which the large society is based. Marital life may suffer from problems and obstacles that are difficult to solve, so the man presents the divorce of his wife and that the phenomenon of divorce is not a result of it, b
... Show MoreKlebsiella pneumoniae is an adaptable pathogen that forms biofilms on a variety of surfaces. This study's objective was to identify the presence of fimbrial genes (types 1 and 3) in K. pneumoniae strains isolated from various clinical sources based on their antibiotic resistance and ability to form biofilms. According to identification utilizing the vitek 2 technology and confirmation by molecular identification targeting the 16S rRNA gene with a particular primer, forty isolates were identified from clinical specimens. The vitek 2 compact system was utilized to evaluate the antibiotic susceptibility of all the isolates. The findings revealed a range of resistance percentages, including 52.5% for Penicillin, 40.5% for Trimethoprim/S
... Show MoreSMNs like Facebook, YouTube, Twitter, WhatsApp,..etc. are among the most popular sites on the Internet. These sites can provide a powerful means of sharing, organizing, finding information and knowledge. The popularity of these sites provides an opportunity to measure the use them in knowledge sharing, which needs a special scale, but unfortunately, there is no special scale for that. Thus, this study supposes to use SCT as a scale to measure the use of SMNs in electronic knowledge sharing due to it has been used to measure knowledge sharing with its traditional form. This study can help the decision-makers to use these SMNs to share the academics’ knowledge in educational institutes to the communi
... Show MoreBackground: The aim of this study was for estimation and comparism of masticatory efficiency in patient wearing heat cured acrylic and flexible base partial denture, finding out the role of peanuts and carrots on the measurement of chewing efficiency, and to find out whether the types of P.D. (being single or two opposing each other) has any effect on the masticatory performance. Materials and methods: Twenty partially edentulous patients were selected. Five of these patients were selected having Kennedy class I with no modification against natural dentition, other 5patients having Cl.I against Cl.I . The other 5 patients having Cl.III against natural dentition and the last 5 patients were with Cl.III against Cl.III. several ways were used
... Show MoreBackground: Pain is one of the most reported side effects of orthodontic treatment despite the advanced technology in orthodontics. Many analgesics have been introduced to control orthodontic pain including acetaminophen and selective and nonselective nonsteroidal anti-inflammatory drugs. The great concern about these drugs is their adverse effect on rate of teeth movement. Aims: The purpose of this study was to evaluate and compare the effect of acetaminophen, ibuprofen and etoricoxib on pain perception and their influence on the rate of teeth movement during leveling and alignment stage. Methods: Forty patients were evenly and randomly distributed in a blinded way to one of four groups: placebo (starch capsules), acetaminophen 500mg th
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