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.
This study was aimed to determine bone formation markers (OST and BALP) and lysyl oxidase in diabetes and non-diabetes Iraqi acromegaly patients in addition to find the relationship among these parameters. The present study conducted 60 acromegalic patients (30 diabetes & 30 non diabetes) attending National Diabetes Center / AL-Mustansiriya University/Baghdad, and 30 healthy individuals as a control group aged (35-60) years. All patients were administrated Sandostatin drug, and they were diagnosed by physician in the hospital.FBG, GH, IGF-1, OST, BALP, and LOX were determined in all groups. The results showed a highly significant rise in all parameters (GH, IGF-1, FBG, OST, BALP, and LOX values in serum of all patients when compared with n
... Show Moreتهدف الدراسة إلى استعراض ظهور كراسي اليونسكو في الجامعات العراقية والأنشطة التي تم تنفيذها لتحقيق أهداف التنمية المستدامة، حيث تم إنشاء كل كرسي لتحقيق أحد هذه الأهداف التي تركت أثرها على بعض القطاعات التعليمية والاجتماعية ، وبالتالي تنبع أهمية الدراسة من الحاجة إلى الإشارة إلى إنشاء كراسي اليونسكو في الجامعات العراقية والأنشطة التي عززت إنشائها ونشاطها ومبادراتها المحلية والدولية, وكذلك تحديد ما حقق
... Show MoreRivers Tigris and Euphrates, as well as the wetlands in southern Iraq and the Diyala River, were all included in the evaluation of earlier studies on the variety and factors impacting fish in Iraqi waters. Different studies documented different types, and the number of species recorded varied between the studies, which could be explained by the registration of some species, synonyms, differs from the registration of some species with synonymous names By mistake, as well as recording new species in times that followed some previous studies, Also, the difference in some factors, including the pollution of some waterways, leads to a difference in the existing species, so we find the presence of species that are tolerant of pollution. There are
... Show MoreThe avoidance of failure in construction projects is not an easy task, which makes the failure of the construction project to achieve its objectives a major problem experienced by all countries in the world, especially Iraq. Where nearly two-thirds of the construction projects in the world have been suffered by significant problems as an increase in the cost of the project, delay in the specified duration for execution, and stopping the project. Therefore it is required to study and apply new methods for managing the construction project to ensure its success and achieve its objectives. The aim of this study is to study the Agile project management method and its impact on the construction project. In addition, to identi
... Show MoreSocial isolation and quarantine have been implemented globally during outbreaks of a highly transmissible microbe. For instance, they were employed during the plague outbreak in 1894 and the COVID-19 pandemic in 2019. While these methods have proven effective against highly transmissible infections, they have also had significant negative consequences. In specific regions like Anbar, Diyala, Salahaddin, and Kirkuk, social isolation occurred during the period of ISIS occupation. After their liberation, these regions experienced a COVID-19 outbreak, and quarantine measures were put in place. This study aimed to investigate the effect of social isolation and quarantine on tuberculosis. Patients from Anbar, Diyala, Salahaddin, and Kirkuk distri
... Show MoreExpressions of Gratitude in American English and Iraqi Arabic (). Expressing gratitude is one of the most frequently occurring communicative acts in...
In recent years the interest in fractured reservoirs has grown. The awareness has increased analysis of the role played by fractures in petroleum reservoir production and recovery. Since most Iraqi reservoirs are fractured carbonate rocks. Much effort was devoted to well modeling of fractured reservoirs and the impacts on production. However, turning that modeling into field development decisions goes through reservoir simulation. Therefore accurate modeling is required for more viable economic decision. Iraqi mature field being used as our case study. The key point for developing the mature field is approving the reservoir model that going to be used for future predictions. This can
Acromegaly has been associated with several metabolic health conditions that can increase risks of death and illness. These include heart disease, diabetes, and problems with how the body regulates insulin levels. Multiple studies have found that people living with acromegaly are two to four times more likely to pass away than others of the same age and sex in the general population. Research also suggests a link between acromegaly and higher levels of malondialdehyde (MDA) in the body. MDA is a byproduct formed during natural processes like prostaglandin and lipid peroxidation production that is able to damage genes and has been connected to cancer development. The transmembrane protein known as soluble a-Klotho (SAKL) is
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