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.
Over the past ten years, tumor markers have played an increasingly important role in clinicaloncology. This trend is expected to continue as technology advances and our knowledge of thehuman body and disease processes grows. In the treatment of cancer, tumor markers are widelyused for a variety of purposes, including screening, selecting a management strategy,determining the prognosis, and post-therapy follow-up. A comprehensive of the fundamentalsof pathophysiology and identification strategies for each specific malignancy is necessary fortheir prudent application in clinical practice. Oncology's use of cancer biomarkers hastransformed the way that cancer is treated, and led to notable improvements in patient outcomesand cancer tre
... Show MoreThe high viscosity of heavy oil is a crucial factor that strongly affects its up-stream recovering, down-stream surface transporting and refining processes. Economical methods for recovering the heavy oil and reducing is very important and related to capital and/or operating cost. This research studies the treatment of Iraqi heavy crude oil, which characterize with high viscosity and low API which makes transportation of heavy crude oil a difficult mission, needs for treatment to reduce viscosity for facilitating transportation and processing. Iraqi heavy crude oil was used Sharqi Baghdad, which obtained from Baghdad east oil fields with API 22.2º.Many kinds of additives were used to reduce the viscosity, experiments were performed o
... Show MoreMR Younus, Al-A'DAB, 2011
Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, in which the myelin sheaths got injured. The prevalence of MS is on grow, as well as, it affects the young ages. Females are most common to have MS compared to males. Oxidative stress is the situation of imbalance between oxidants (free radicals and reactive oxygen species (ROS)) and antioxidants in a living system, in which either the oxidants are elevated or antioxidants are reduced, or sometimes both. ROS and oxidative stress have been implicated in the progression of many degenerative diseases, which is important in cracking the unrevealed mysteries of MS. In this review article, some of the proposed mechanisms that link oxidative stres
... Show MoreThe study includes collection of data about cholera disease from six health centers from nine locations with 2500km2 and a population of 750000individual. The average of infection for six centers during the 2000-2003 was recorded. There were 3007 cases of diarrhea diagnosed as cholera caused by Vibrio cholerae. The percentage of male infection was 14. 7% while for female were 13. 2%. The percentage of infection for children (less than one year) was 6.1%, it while for the age (1-5 years) was 6.9%and for the ages more than 5 years was 14.5%.The total percentage of the patients stayed in hospital was 7.7%(4.2%for male and 3.4%for female). The bacteria was isolated and identified from 7cases in the Central Laboratory for Health in Baghdad. In
... Show MoreHoneywords are fake passwords that serve as an accompaniment to the real password, which is called a “sugarword.” The honeyword system is an effective password cracking detection system designed to easily detect password cracking in order to improve the security of hashed passwords. For every user, the password file of the honeyword system will have one real hashed password accompanied by numerous fake hashed passwords. If an intruder steals the password file from the system and successfully cracks the passwords while attempting to log in to users’ accounts, the honeyword system will detect this attempt through the honeychecker. A honeychecker is an auxiliary server that distinguishes the real password from the fake passwords and t
... Show MoreBackground: Imaging has a critical role in the diagnosis and evaluation of cardiac diseases, beginning with chest radiography and fluoro-scopy and progressing to coronary angio-graphy, echocardiography, nuclear medicine and recently multidetector computed tomo-graphy (MDCT) as well as magnetic resonance (MR) imaging
Objective: To highlight the role of Multi-detector CT in the evaluation of coronary artery disease and its importance of being noninvasive diagnostic technique.
Methods: A cross sectional study for 20 patients. Patients were asked to fast 6 hours prior to the examination and the patients with heart rates above 65 beats per minute were given cardio-
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