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.
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
... Show MoreThe parliamentary election is one of the features of democratic systems that give individuals the right to participate in government and political election-making. Typically, the process of parliamentary elections received wide attention from media, as well as attention from large segments of the public because they understand the vast importance to assume political positions and associated fates of people and their destinies. Its importance comes from the fact that it allows citizens the right to participate in managing the public affairs by granting their confidence and voices to the elected president or his representatives in the parliamentary.
Media task is to emerge democratic societies, in particular, in the mission of urging p
The research aims to identify the tax policy strategy adopted in Iraq after the change of the tax system in 2003 and beyond, and then make a comparison of the two strategies on corporate data whether they are charged with progressive tax rates and after the change of the system as the tax rates became fixed, and then indicate the changes In the tax proceeds, and knowing the imensions of the approved tax policy, is it a tax reform strategy or a strategy to attract investments.The research started from the problem of exposure of the Iraqi tax system to several changes, as this led to a reflection on the technical organization of taxes, in terms of the tax rate.The descriptive analytical approach was chosen to study the actual reality of th
... Show MoreBackground: Major depressive disorder (MDD) is mental disorder characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. The aims of the study: were to determine the prevalence of oral manifestation among patients with major depressive disorder receiving antidepressant drugs, and detect alkaline phosphatase (ALP), Total Salivary proteins (TSP), and Interleukin-6 (IL-6) in relation to MDD patients under treatment and to compare with healthy controls. Materials and method: (50) MDD patients; between the ages of 20 years and 60 years.The depression patients are divided into (25) patients under treatment with fluoxetine (Prozac), and (25) patients under tr
... Show MoreThis paper develops a nonlinear transient three-dimensional heat transfer finite element model and a rate independent three-dimensional deformation model, developed for the CO2 laser welding simulations in Al-6061-T6 alloy. Simulations are performed using an indirect coupled thermal-structural method for the process of welding. Temperature-dependent thermal properties of Al-6061-T6, effect of latent heat of fusion, and the convective and radiative boundary conditions are included in the model. The heat input to the model is assumed to be a Gaussian heat source. The finite element code ANSYS12, along with a few FORTRAN subroutines, are employed to obtain the numerical results. The benefit of the proposed methodology is that it
... Show MoreThe most hazardous class of pharmaceuticals for soil and aquatic ecosystems are antibiotics, which include prescription medications and cancer treatments. Hospital effluents are usually produced by all parts of medical facilities, including hospitals. This study's specific goal was to provide a quick, affordable, and accurate analytical technique for determining the levels of amoxicillin, azithromycin, and penicillin in wastewater from Medical City, Al-Mahmudiya, and Al-Yarmouk hospitals (Iraq, Baghdad). An HPLC with a receptive ODS C18 column was used. It was equipped with UV and pulsed amperometric detectors with wavelengths of 230 nm and 210-240 nm, respectively. The correlation coefficients for each drug are greater than 0.9999,
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