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.
In this study, six square reinforced concrete flat plates with dimensions of (1500×1500×100) mm were tested under a concentrated load applied on a column located at the center of the slabs. One of these slabs was the control specimen, whereas, in the others, steel angles (steel collars) were used, fixed at the connection region between the slab and the column to investigate the effect of the presence of these collars on punching shear strength. Five thicknesses were used (4, 5, 6, 8, 10mm) with constant legs of angles (75×75) mm of the steel collars to investigate the effects on the punching shear resistance with respect to the control slab. The results of the experimental study show that the punching shear resistance increased b
... Show MoreChronic kidney disease (CKD) is described as an abnormalities of renal function, existing for a long period of time. By reason of the early grades of Chronic kidney disease can be experiences no symptoms, its premature identification is strenuous. initial stage CRD can cause various complications, such as anemia, matabolyic disorders of bone mineral. The study was done to assess the effect the chronic renal disease stage on the Osteoprotegerin, 1,25 dihydroxyvitamin D, Obestatin levels and some biochemical parameters in patients not undertaken dialysis therapy. In this case-control study fifty-five patients with Kidney failure and fourty healthy people were examined. Circulating concentrations of Osteoprotegerin, 1,25 dihydroxyvitamin D
... Show MoreHeat transfer applications usually contemplated day‐to‐day are primarily spotlighted on mixed convection, such as solar collector heating arrangements, electronic cooling, and drying processes. Enhancing convection heat transmission in such appliances can be achieved by inserting porous media, inflow loci, and/or line geometry. In the present paper, convection heat transmission inside a vented curved cavity () with an inserted metal foam layer ( PPI and 0.9% porosity) saturated with water was accomplished. The bottom cavity wall was discretely heated at a constant hot temperature, and the curved wall was kept at a constant cold temperature. Governing equations comprising cont
Abstract Background: Timely diagnosis of periodontal disease is crucial for restoring healthy periodontal tissue and improving patients’ prognosis. There is a growing interest in using salivary biomarkers as a noninvasive screening tool for periodontal disease. This study aimed to investigate the diagnostic efficacy of two salivary biomarkers, lactate dehydrogenase (LDH) and total protein, for periodontal disease by assessing their sensitivity in relation to clinical periodontal parameters. Furthermore, the study aimed to explore the impact of systemic disease, age, and sex on the accuracy of these biomarkers in the diagnosis of periodontal health. Materials and methods: A total of 145 participants were categorized into three groups based
... Show MoreAim: This study aims to determine both the level of knowledge, attitude, and practice in clinical breast examination in women and the relationship between knowledge and practice.Data collection was performed within a three-month period starting from February 2019 on. Subjects and Method: A cross-sectional analytical study included 657 non-randomly selected women visiting primary health care centers in Baghdad city with an average of age between (20-59) years old. Results: Only 51.8% ever heard of clinical breast examination. The mean knowledge score for clinical breast examination was (51.2±44). Only 5.5% of women performed regular clinical breast examinations. Participants who adequately practice clinical breast examinatio
... Show MoreAtrial fibrillation is associates with elevated risk of stroke. The simplest stroke risk assessment schemes are CHADS2 and CHA2DS2-VASc score. Aspirin and oral anticoagulants are recommended for stroke prevention in such patients.
The aim of this study was to assess status of CHADS2 and CHA2DS2-VASc scores in Iraqi atrial fibrillation patients and to report current status of stroke prevention in these patients with either warfarin or aspirin in relation to these scores.
This prospective cross-sectional study was carried out at Tikrit, Samarra, Sharqat, Baquba, and AL-Numaan hospitals from July 2017 to October 2017. CHADS2
... Show More: Cigarette smoking is a lifestyle behavior that causes significant adverse health effects. Cigarette smoke contains chemicals, many of which are lead to the production of reactive oxygen species (ROS), which can lead to apoptosis and autophagy. To estimate the association of Cigarette smoking with the autophagy and immunity, technology of real time polymerase chain reaction (RTPCR) for gene expression of (LC3A, LC3B, LC3C, myd88) was used. Enzyme-linked immunosorbent assay (ELISA) technique was utilized to measurement the amount of TNF-α protein. The ratios of LC3A/LC3B and LC3B/LC3C were calculated to estimate the autophagy flux. The results indicate the expression of LC3B, LC3C and Myd88 genes in smokers is increased significantly (p
... Show MoreTo determine the association between cigarette smoking and oxidative stress, a study was conducted in the period from January 2020 to April 2021, at College of Medicine, Al-Nahrain University, Baghdad, Iraq. The Enzyme-linked immunosorbent assay (ELISA) technique was utilized for measurement the antioxidant enzymes including: Glutathione superoxide (GPX) and catalase (CAT) and the biomarker of lipid peroxidation Malondialdehyde (MDA). Also, the gene expression of Nrf2 and HO-1were determined by using RT-PCR technique. The results indicate lower level of both GPX and CAT (p ≤ 0.001) in smokers compared with non-smokers. While the result of MDA indicate higher level in smokers (p≤0.001) compared with nonsmokers. The Nrf2 and HO-1 gene exp
... Show MoreThe study aims to clarify the impact of growth in the industrial sector on economic growth in the Iraqi economics according to the methodology of Kaldor for (2017-2030) , taking into consideration the effect of the accumulation of capital in the calculation of growth rates in the economy through productivity estimate of Total Factor Productivity (TFP) to growth in the economy, which is why the study assumes a formula to comply with the laws of Kaldor growth models developed requirements. This study is the most important to find out the development of the laws of Kaldor among Arabic studies, especially the first and third, so that the relationship between the growth of industrial production and economic growth as represented
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