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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
Tue Apr 09 2013
Journal Name
Chemistry And Materials Research
Hydrogen Bonds Effects on the Electrical Properties of Pectin/Pva Graphene Nanocomposites
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Electrical properties were studied for Pectin/PVA graphene composites films and the effect of aqueous interaction on their properties. The conductivity and the dielectric constant of this composite are important because Polysaccharide like pectin is increasingly being used in biomedical applications and as nanoparticles coating materials. The Dielectric and conductivity of composite films were compared in dry and wet condition the differences in the results were attributed to the water molecules and the hydrogen bond which connect the three composite compounds (Pectin, PVA and Graphene) together. These connections were allowed the hydrogen and hydroxyl group’s migrations in the composite super molecules. On the other hand, graphene was pr

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Publication Date
Thu Dec 01 2011
Journal Name
Swarm And Evolutionary Computation
Energy-aware evolutionary routing protocol for dynamic clustering of wireless sensor networks
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Publication Date
Wed Jan 15 2020
Journal Name
Biochem. Cell. Arch.
EFFECT OF LYCOPENE ANTIOXIDANT GEL AS ADJUNCTIVE THERAPY TO CONVENTIONAL PERIODONTAL TREATMENT
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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
Rhetorical connections to the head-covers of Mesopotamian gods: جهينة حامد حساني
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The Rafidian artist discussed the headdresses of his idols with a varied scholarly momentum, so each idol had its own cover as this door of diversity contributed to the enrichment of Rafidian thought and full knowledge of their ideas and beliefs consistent with their multiple symbolic connections such as architecture, for example. The previous one, if not its entirety.
A research such as this (the discursive connections to the head-covers of the deities of the Mesopotamian civilization) aims to clarify the confusion that occurs through four chapters: The first chapter included: the research problem, the importance of research and the need for it, the objectives of the research, the temporal, spatial and objective limits of research, a

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Publication Date
Thu Oct 14 2021
Journal Name
Iraqi Journal Of Physics
Investigation of nonlinear optical properties for laser dyes-doped polymer thin film
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Solutions of dyes Rhodamine 6G (Rh6G) and Coumarin480(C480) were prepared at five concentrations (1x10-3, 5x10-4, 1x10-4, 5x10-5 and1x10-5) mol/l, the mixing was stirred to obtain on a homogenous solution, the(poly methyl-methacrylate) (PMMA) was solved by chloroform solvent with certain ratio, afterward (PMMA+Rh6G) and (PMMA+C480) thin films were prepared by casting method on glass block which has substrate with dimensions (7.5 x2.5)cm2, the prepared samples were left in dark place at room temperature for 24 hours to obtain uniform and homogenous thin films. UV-VIS absorption spectra, transmission spectra and fluorescence spectra were done to measure linear refractive index and linear absorption coefficient. The nonlinear optical proper

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Publication Date
Mon Feb 12 2024
Journal Name
Journal Mustansiriyah Of Sports Science
Standardization test for the measurement of offensive basketball composite skills(16) years
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Summary of the researchThe style of playing in basketball, represented by the performance of complex movements as a result of the rapid movement and changing positions is one of the advantages of this game, which adds beauty and excitement to this game, so it was necessary for players to use forms of mobility and complex skills mixed with precision and speed, In the attack to overcome the difficult positions defenders are trying to impose on the attacking team.Complex offensive skills in basketball are difficult skills that a player can not easily perform so they need to be specially trained to handle those situations so that the player can use them in difficult situations.The research community represented a sample of Baghdad players for t

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Publication Date
Mon Oct 01 2018
Journal Name
Civil Engineering Journal
Developing Water Quality Index to Assess the Quality of the Drinling Water
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In the present study, an attempt has been to develop a new water quality index (WQI) method that depends on the Iraqi specifications for drinking water (IQS 417, 2009) to assess the validity of the Euphrates River for drinking by classifying the quality of the river water at different stations along its entire reach inside the Iraqi lands. The proposed classifications by this method are: Excellent, Good, Acceptable, Poor, and Very poor. Eight water quality parameters have been selected to represent the quality of the river water these are: Ion Hydrogen Concentration (pH), Calcium (Ca), Magnesium (Mg), Sodium (Na), Chloride (Cl), Sulphate (SO_4), Nitrate (NO_3), and Total Dissolved Solids (TDS). The variation of the water quality parameters

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Publication Date
Mon Jan 01 2018
Journal Name
International Journal Of Surgery Open
Does preoperative magnetic resonant cholangiopancreatography (MRCP), improve the safety of laparoscopic cholecystectomy?
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<bold>ABSTRACT</bold> <sec> <title>Background:

Magnetic resonance cholangiopancreatography (MRCP) is a non-invasive imaging test with excellent overall sensitivity and specificity for demonstrating the level and the presence of a biliary obstruction. MRCP has emerged as an accurate, diagnostic modality for investigating the biliary and pancreatic duct. In some cases, it has been recommended that preoperative MRCP is a good choice for the detection of CBD stones.

Aim:

The aim of the s

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Publication Date
Tue Aug 15 2023
Journal Name
Journal Of Economics And Administrative Sciences
The Impact of Organizational Innovation Climate on Sustainable Competitive Advantage- Empirical Study
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The problem of the research is that some companies lack the mechanisms and policies that to enhance the loyalty of these valuable resources, which led to difficulties in generating knowledge, producing, storing, investing and investing information to achieve a sustainable competitive advantage. In addition, companies are still working with the traditional wage system (monthly salaries), which makes people not think about adding value to work. The research aims to determine the level of variables for researchers to clarify the impact of the organizational innovation climate on sustainable competitive advantage. The Qualitative approach is used based on research. The research was applied

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Publication Date
Tue Jul 02 2013
Journal Name
Journal Of Baghdad College Of Dentistry
Local Drug Delivery Systems for Treating Periodontal Diseases: A Review of Literature
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