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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
Sat Mar 30 2013
Journal Name
Mathematical Problems In Engineering
CFD analysis of Heat transfer and friction factor characteristics in a circular tube fitted with Quadrant-cut twisted tape inserts
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Publication Date
Thu Feb 01 2024
Journal Name
Russian Journal Of Bioorganic Chemistry
Synthesis, Characterization of Formazan Derivatives from Isoniazid and Study Their Antioxidant Activity and Molecular Docking
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Objective: Synthesis, Characterization of formazan derivatives and studies the antioxidant activity of prepared compounds and molecular docking. Methods: In this study, formazan compounds (III–XIV) were produced by combining Schiff base compounds (I), (II) with diazonium salts resulting from reactions of different aromatic amines with sodium nitrate in the presence of Con.HCl at 0–5°C. When isonicotinic acid hydrazide reacts with (N,N-dimethylbenzaldehyde, 4-hydroxy-3-methoxybenzaldehyde) in the presence glacial acetic acid as a solvent Schiff base compounds are created. Results: The prepared compounds were identified by FT-IR, 1H NMR, 13C NMR, then the antioxidant activity of the derivatives and molecular docking were studied. D

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of Molecular Imprinting on the Loading and Release of Poorly Water Soluble Drug in Hydrogel Gontact Lenses
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Therapeutic contact lenses TCLs is an approach used to enhance corneal residence time and reduce frequent instillation, which is a problem with eye drops.  The problem with CLs is loading of hydrophobic drugs. In this research the CLs were prepared with molecular imprinting MI to enhance the loading of itraconazole, which is used as antifungal drug for fungal keratitis. CLs using different  concentration of hydroxyethyl methacrylate HEMA and methacrylic acid MAA were prepared with and without MI using PEGDA (25 μL) and AIBN (37 mg) as crosslinker and initiator respectively. All the prepared CLs were clear and have good folding endurance. MICLs had significantly higher drug loading compared to conventional CLs. The release of i

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Cholera disease in iraq and the invetigation of some virulence of vibrio locally isolated from diarrhea case
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A survey statistician for cholera in Iraq for 1980 and until 2003 show that cholera is endemic in Iraq and that the highest number of casualties recorded in the years 1998-1999 and increasing spread of the disease during the wars in hot climates, wet a study bacteriological used where circles selective and tests Alkouhaoah examinations serological system

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Publication Date
Sat Jan 01 2022
Journal Name
1st Samarra International Conference For Pure And Applied Sciences (sicps2021): Sicps2021
The persistence and bifurcation analysis of an ecological model with fear effect involving prey refuge and harvesting
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Publication Date
Sun Jan 03 2016
Journal Name
Journal Of Educational And Psychological Researches
"Social affiliation and its relation with compliance for Iraqi expatriates students"
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Individual cannot live alone due to to his need for others to facilitate His supplies for living, thus social affiliation is considered one of the most important psychological, social needs in individuals life through his willing to affiliate to others whether they were friends ,family, colleague , or even home to reach some degree of  psychological stability.

       Affiliation is a tool to search for Satiate through living with group from the same type or comply for group or to be compatible with them or even to be adherent and accept what the group agreed about of criterion.

     &nbsp

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Publication Date
Fri Jan 13 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Kidney functions and electrolyte disturbance among Iraqi patients with bladder cancer
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المقدمة :يعد سرطان المثانة من بين أكثر أنواع السرطانات انتشارًا في جميع أنحاء العالم، حيث تم الإبلاغ عن 549,393 حالة جديدة في عام 2018 وما يقرب من ٪3 من جميع تشخيصات السرطان الجديدة و ٪2.1 من جميع وفيات السرطان ناتجة عن سرطان المثانة البولية. الاهداف: تهدف هذه الدراسة إلى استكشاف كفاءة وظائف الجهاز البولي بواسطة اجراء اختبارات وظائف الكلى ومستويات الايونات لمرضى سرطان المثانة. المنهجية: تم تحديد جميع الافراد الم

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Publication Date
Wed Oct 17 2018
Journal Name
Journal Of Economics And Administrative Sciences
The Use Of Some Parametric And Non parametric Methods For Analysis Of Factorial Experiments With Application
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summary

In this search, we examined the factorial experiments and the study of the significance of the main effects, the interaction of the factors and their simple effects by the F test (ANOVA) for analyze the data of the factorial experience. It is also known that the analysis of variance requires several assumptions to achieve them, Therefore, in case of violation of one of these conditions we conduct a transform to the data in order to match or achieve the conditions of analysis of variance, but it was noted that these transfers do not produce accurate results, so we resort to tests or non-parametric methods that work as a solution or alternative to the parametric tests , these method

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Publication Date
Thu May 02 2013
Journal Name
Journal Of Engineering
Experimental and numerical analysis of piled raft foundation with different length of piles under static loads
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In order to understand the effect of (length of pile / diameter of pile) ratio on the load carrying capacity and settlement reduction behavior of piled raft resting on loose sand, laboratory model tests were conducted on small-scale models. The parameters studied were the effect of pile length and the number of piles. The load settlement behavior obtained from the tests has been validated by using 3-D finite element in ABAQUS program, was adopted to understand the load carrying response of piled raft and settlement reduction. The results of experimental work show that the increase in (Lp/dp) ratio led to increase in load carrying capacity by piled raft from (19.75 to 29.35%), (14.18 to 28.87%) and (0 to 16.49%) , the maximum load carr

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Publication Date
Thu May 18 2023
Journal Name
Journal Of Engineering
Experimental and Numerical Analysis of Piled Raft Foundation with Different Length of Piles Under Static Loads
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In order to understand the effect of (length of pile / diameter of pile) ratio on the load carrying capacity and settlement reduction behavior of piled raft resting on loose sand, laboratory model tests were conducted on small-scale models. The parameters studied were the effect of pile length and the number of piles. The load settlement behavior obtained from the tests has been validated by using 3-D finite element in ABAQUS program, was adopted to understand the load carrying response of piled raft and settlement reduction. The results of experimental work show that the increase in (Lp/dp) ratio led to increase in load carrying capacity by piled raft from (19.75 to 29.35%), (14.18 to 28.87%) and (0 to 16.49%) , the maximum load carried

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