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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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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.

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Publication Date
Wed Mar 25 2020
Journal Name
International Journal Of Drug Delivery Technology
Study of Molecular Interaction for Antibiotic Drug with Sugar Solutions at Different Temperature
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The interactions of drug amoxicillin with maltose or galactose solutions with a variation of temperature have been discussed by taking in the volumetric and viscometric procedures. Physical properties [densities (ρ) and viscosities (η)] of amoxicillin (AMOX) aqueous solutions and aqueous solutions of two type saccharides (maltose and galactose 0.05m) have been measured at T = (298.15, 303.15 and 308.15) K under atmospheric pressure. The apparent molar volume (ϕv cm3mole-1) has been evaluated from density data and fitted to a Redlich-Mayer equation. The empirical parameters of the Mayer-Redlich equation and apparent molar volume at infinite dilution ذv were explicated in terms of interactions from type solute-solvent and solute

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Publication Date
Wed Jan 15 2025
Journal Name
International Journal Of Cloud Computing And Database Management
Deep video understanding based on language generation
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Vol. 6, Issue 1 (2025)

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Publication Date
Thu Aug 30 2018
Journal Name
Journal Of Engineering
Babylon Governorate Municipal Solid Waste Generation Rate
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Municipal solid waste generation in Babylon Governorate is often affected by changes in lifestyles, population growth, social and cultural habits and improved economic conditions. This effect will make it difficult to plan and draw up future plans for solid waste management.In this study, municipal solid waste was divided into residential and commercial solid wastes. Residential solid wastes were represented by household wastes, while commercial solid wastes included commercial, institutional and municipal services wastes.For residential solid wastes, the relational stratified random sampling was implemented, that is the total population should be divided into clusters (socio-income level), a random sample was taken in e

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Publication Date
Tue Jul 05 2022
Journal Name
Journal Of Pharmaceutical Care
Epidemiological and Clinical Factors Affecting the Response to Etanercept Among Patients with Rheumatoid Arthritis
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Publication Date
Tue Mar 09 2021
Journal Name
Romanian Neurosurgery
Primary multiple cerebral hydatid disease in a young patient with surgically-treated intracerebral haemorrhage
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Introduction:  Cerebral hydatid disease (CHD) is rare and the multiple-cystic variety is even rarer. In this paper, we report a case of multiple CHD and explore a possible link with a preceding spontaneous intracerebral haemorrhage (ICH).   Case presentation: A 27-year old gentleman with a history of surgically-evacuated, spontaneous ICH presented with severe headache, left-sided weakness - Medical Research Council (MRC) grade II - and recurrent tonic-clonic seizures, while on a full dose of anti-epileptic medication. Brain magnetic resonance imaging (MRI) scans showed multiple intra-axial cystic lesions in the right hemisphere. The cysts were removed intact using Dowling’s technique through a large temporoparietal crani

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Publication Date
Sun Jun 05 2011
Journal Name
Baghdad Science Journal
Quantitative Analysis of Some Insecticides and Their Mixture in Agriculture by Using UV-Vis Spectrophotometer
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We studied in this research how to find a method of estimating the quantity (Kinetically) of three kinds of Insecticide and their mixture, which are used in agriculture. The extracted insecticide from the polluted samples with these insect from air, soil, and the leaves of trees, have be used into the reaction with H2O2 and benzedine. The kinetic study of this reaction was formed in basic medium,( pH= 8.6), using UV. Spectra at (?= 420nm). The study showed that the reaction is the first order, and the speed of the reaction was used to estimate the concentration of insecticide in solution and mixture. The experiments of this study indicated that this method has the speed and efficiency for quantitatively estimating these

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Publication Date
Thu Jan 01 2015
Journal Name
Journal Of The College Of Languages (jcl)
A Pragmatic Analysis of Implied Meaning in Selected Poems by T.S. Eliot and Al-Sayyab
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In addition to its basic communicative function, language can be used to imply information that is not actually stated, i.e. addressers do not always state exactly (or directly) what they mean. Such instances fall within the domain of pragmatics in that they have to do with how addressers use language to communicate in a particular situation by implication rather than by direct statement. The researcher attempts to demonstrate that the beauty and the multiple layers of meaning in poetry can be better explored if the addressee looks at the lines from a pragmatic perspective in search for implied meaning. There are many devices that can convey implied meaning in poetry, among which are 'rhetorical', 'figurative' or 'literary' devices. But

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Publication Date
Sat Jul 08 2017
Journal Name
Research Journal Of Pharmaceutical , Biological And Chemical Sciences
Assessment activity and Partial purification of Alkaline phosphatase (AIP) from sera of patients with celiac disease
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Publication Date
Thu Jan 09 2020
Journal Name
Plant Archives
Molecular Study of Two Fungi Millerozyma Farinosa and Candida Orthopsilosis by PCR Using Its Gene and Phylogenetic Structuring Tree Isolated from Diabetic Patient in Baghdad
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Diabetic mellitus is one of the main risk factors of fungal infections because poor glycemic control is associated with a high level of glucose in blood and saliva which could be treated as nutrient to fungi. This study aimed to isolate and identification of pathogenic fungi from diabetic patient. 140 samples were taken from different places of human body from the national center of diabetic patients that related to Mustansiriyah University / college of medicine and Al-yarmuk Hospital in Baghdad. 84 sample (60%) tested positive to fungi and 56 sample (40%) tested negative to fungi. The most frequented fungi isolated have been chosen for molecular identification by PCR (Millerozyma farinosa and Candida orthopsilosis) using specific pri

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Publication Date
Tue Sep 01 2020
Journal Name
Baghdad Science Journal
Molecular Characterization of Plasmid-Mediated Non-O157 Verotoxigenic Escherichia coli Isolated from Infants and Children with Diarrhea
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A significant increase in the incidence of non-O157 verotoxigenic Escherichia coli (VTEC) infections have become a serious health issues, and this situation is worsening due to the dissemination of plasmid mediated multidrug-resistant microorganisms worldwide. This study aims to investigate the presence of plasmid-mediated verotoxin gene in non-O157 E. coli. Standard microbiological techniques identified a total of 137 E. coli isolates. The plasmid was detected by Perfectprep Plasmid Mini preparation kit. These isolates were subjected to disk diffusion assay, and plasmid curing with ethidium bromide treatment. The plasmid containing isolates were subjected to a polymerase chain reaction (PCR) for investigating

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