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.
The Sadi reservoir is one of the largest and most important unconventional tight oil reservoirs in southern Iraq. However, it suffers from low production rates, necessitating many development strategies that require a correct and reliable characterization of reservoir fluid properties. Whilst these properties are originally obtained from laboratory experiments, measurement errors often occur despite rigorous workflows, which negatively affect the calculation of reservoir fluid properties. This study utilizes the fluid thermodynamics characterization program (PVTp) to generate a reliable model for determining the oil properties of Sadi reservoir. A methodology was developed to simulate fluid thermodynamic tests, including Differ
... Show MoreIn solar-thermal adsorption/desorption processes, it is not always possible to preserve equal operating times for the adsorption/desorption modes due to the fluctuating supply nature of the source which largely affects the system’s operating conditions. This paper seeks to examine the impact of adopting unequal adsorption/desorption times on the entire cooling performance of solar adsorption systems. A cooling system with silica gel–water as adsorbent-adsorbate pair has been built and tested under the climatic condition of Iraq. A mathematical model has been established to predict the system performance, and the results are successfully validated via the experimental findings. The results show that, the system can be operational
... Show MoreHuman cytomegalovirus (HCMV) has a worldwide distribution and common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers. The proto-oncogene Her2/neu is overexpressed in 25% to 30% of human breast cancers and frequently associated with tumor aggressiveness and worse prognosis. Examination was applied to detect different HCMV antigens and to demonstrate their correlation with Her2/neu overexpression in breast cancer. The present study includes samples from 70 women of 60 breast cancer patients and 10 normal breast tissues. Formalin-fixed paraffin embedded tissue blocks were obtained from each woman according to ethical approval. Human cytomegalovirus early antigen expression was detected in 5
... Show MoreTo determine the seroprevalence of hepatitis B markers in chronic hepatitis B patients, 75 patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 apparently healthy individuals. All the studied groups were carried out to measure (HBsAg), (HBsAb), (HBeAg), (HBeAb), and (Total HBcAb) by Enzyme linked immunosorbent assay (ELISA) technique. The percentage distribution of HBsAg was (86.67%) and HBsAb was (1.33%) in sera of CHB patients and there were a highly significant differences (P<0.01) when compared between studied groups, while, the percentage distribution of HBeAg was (22.67%) in sera of CHB patients and the significant represent the difference in distribution of HBeAg as infection but no
... Show MoreBreast cancer (BC) is the most commonly diagnosed cancer in women. The metabolism of iron is closely regulated by hepcidin which exerts its action by interacting with a ferroportin.
The aim of the present study was to assess the alterations in the levels of some serum biomarkers that have a role in iron homeostasis (hepcidin and ferroportin) in addition to hematological parameters (hemoglobin, leukocyte and platelets count) in different stages of BC.
This study included 66 women with BC. The patients were categorized as follows : group 1 includes :22 patients with stage I disease ,group 2 includes: 22 patients with stage II disease ,and group 3 include: 22 patients with stage III disease .Group 4 includes :22 appare
... Show MoreAlterations of trace element concentrations adversely affect biological processes and could promote carcinogenesis. Trace element deficiency or excess is implicated in the development or progression of some cancers like colorectal cancer. The aim of the present study was to compare the serum copper (Cu) and zinc (Zn) concentrations in patients with colorectal cancer from Iraqi male patient with those of healthy subjects. During the period of March 2015 until august 2015, a total of 25 patients with metastatic colon cancer and 20 healthy volunteers were enrolled from the Al-Kadhimia Teaching Hospital after the diagnosis using a histopathological examination for the malignant tumor; their age was between (38-60) years. Higher levels o
... Show MoreBackground: Arylesterase activity of Paraoxonase-1 (ARE-PON-1) exhibits an antioxidant role which protects lipoprotein from oxidation. It is known that ARE-PON-1 antioxidant activity associated with high density lipoprotein cholesterol (HDL-C) reduces the oxidative damage mediated by low density lipoprotein cholesterol (LDL-C). The present study was aimed to examine the level of serum ARE-PON1 in Iraqi patients with β-thalassemia minor and its relationship with lipid profile (total cholesterol (TC), HDL-C, very low density lipoprotein (VLDL-C), and LDL-C) and hematologic changes as a part of antioxidant system action. Methods: In the present study, the ARE-PON-1 activity was investigated in serum of patients with β-thalassemia minor. Resu
... Show MoreObjectives: Osteoporosis (OP) is a systemic skeletal disorder characterized with bone mass loss and microstructure, resulting in fragility fractures. Continued secretion of Osteopontin (OPN), osteonectin (ON), osteocalcin (OCN), Parathyroid hormone (PTH) and Ca+2 lead to bone remodeling disorders, followed by bone loss and osteoporosis (OP). The current study aims to investigate the biochemical proteins OPN, OCN, and ON in postmenopausal women with osteoporosis and determine whether we could use them as good indicators for OP diagnostics. Materials and Methods: Case- control study carried out between December 2022 and July 2023. OP disease was confirmed among 108 Iraqi postmenopausal women randomly selected from different Iraqi hospitals, B
... Show MoreThe construction industry in Iraq suffers from many problems, perhaps the most important of which is the delay in time and the increase in costs. Therefore, it was necessary to try to adopt a new methodology that would help in overcoming these problems. It was suggested to combine building information modeling with the agile management approach because this technique and methodology is modern and helps in reducing time and cost and improving quality. This paper aims to know the status of using Building Information Modeling (BIM) and Agile Project management (APM) in Iraq and to shed light on the merging of this integration, explaining the benefits, difficulties, and workflow practices, finding the most influencing factors on the tim
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