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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 Oct 01 2011
Journal Name
Journal Of Engineering
THE EFFECT OF CUTOFF WALL ANGLE ON SEEPAGE UNDER DAMS
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Flow of water under concrete dams generates uplift pressure under the dam, which may cause the dam to function improperly, in addition to the exit gradient that may cause piping if exceeded a safe value. Cutoff walls usually used to minimize the effect of flow under dams. It is required to
1)minimize the flow quantity to conserve water in the reservoir, it is also required to
2)minimize the uplift pressure under the dam to maintain stability of the dam, and it is required to

3) minimize the exit gradient to prevent quick condition to occur at the toe of the dam where piping may occur and may cause erosion of the soil. Varying the angle of cutoff walls affects its influence on the factors aforementioned that are required to

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Publication Date
Mon Nov 05 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Paramedical Specialty Students' Knowledge about Swine Flu Pandemic
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Objectives: This study aims to assess the knowledge, regarding Swine Flu pandemic among a sample of paramedical
specialty students of Medical Technology Institute (Baghdad).
Methodology: The study sample included (110) male and female students, randomly selected, and data was collected by
previously prepared questionnaire including different questions covering different clinic-epidemiological aspects of the
disease and followed by statistical analysis using simple binomial tests and average percentage of correct answers.
Results: The higher percentage of correct responses regarding causative virus 83%, it is respiratory disease 83%,
transmission among people through the droplets 83%, and by touching contaminated surface

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Publication Date
Thu Apr 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Design of New V Shaped Thermotropic Liquid Crystals containing Heterocyclic
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    The characterization and design of this study of new liquid crystals with a V shape compounds containing thiazolidine-2,4-dione and 1,3-phenylene as a core unite with mesophase properties were reported. Preparation  and characterization of chloroacetic acid, water, and thiourea to produce thiazolidine-2,4-dione [I] in the presence of strong hydrochloric acid. The 4-hydreoxybenzaldehyde and n-alkyl bromide were reacted with potassium hydroxide to create the n-alkoxy benzaldehyde., then the compound [I] reacted with [II]n in presence of piperidine to produce compounds [III]n. Also, converted resorcinol to a corresponding  compound [IV] by refl

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Publication Date
Sun Feb 03 2019
Journal Name
Iraqi Journal Of Physics
Influence of non-thermal argon plasma needle on blood coagulation
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Non-thermal argon plasma needle at atmospheric pressure was
constructed. The experimental setup was based on a simple and low
cost electric component that generates a sufficiently high electric
field at the electrodes to ionize the argon gas which flow at
atmospheric pressure. A high AC power supply was used with 1.1
kV and 19.57 kHz. Non-thermal Argon plasma used on blood
samples to show the ability of non-thermal plasma to promote blood
coagulation. Three tests have been done to show the ability of plasma
to coagulate both normal and anti-coagulant blood. Each blood
sample has been treated for varying time from 20sec. to 180sec. at
different distances. The results of the current study showed that the
co

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Developing Gold-Resveratrol Nanoconjugates for Management of Rheumatoid Arthritis (RA)
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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
the coincidence lefschetz number for self-maps of lie groups
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Let/. It :0 ---0 G be any two self maps of a compact connected oriented Lie group G. In this paper, for each positive integer k , we associate an integer with fk,hi . We relate this number with Lefschetz coincidence number. We deduce that for any two differentiable maps f, there exists a positive integer k such that k 5.2+1 , and there is a point x C G such that ft (x) = (x) , where A is the rank of G . Introduction Let G be an n-dimensional com -pact connected Lie group with multip-lication p ( .e 44:0 xG--+G such that p ( x , y) = x.y ) and unit e . Let [G, G] be the set of homotopy classes of maps G G . Given two maps f , f G ---• Jollowing [3], we write f. f 'to denote the map G-.Gdefined by 01.11® =A/WO= fiat® ,sea Given a point g

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Publication Date
Thu Aug 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
Strategic relationship training to promote self-growth of the individual
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The main objective of the research is to identify the role of strategic training and its effect on enhancing the self-growth of the individual. Stratigic training represents a contemporary tendency. that is adopted by business organizations in carrying out their activities and tasks.

It is worth to mention, that self-growth of the individual is one of the indictors used to determine the ability of organization to a achieve its goals. 

The problem of the research has pointed out to the minimum awareness of the important role played by training strategy in enhancing the self-growth of the individual. The researcher has adopted an analytical approach, in collecting and analyses

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Publication Date
Sat Nov 03 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Incidence of Seasonal Diarrhea among Children at Child's Central Hospital
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Objective: Diarrhea is a symptom of a variety of conditions may attack the child. It considered one of
mam causes of mortality rates especially in low socio- economic level countries. The child can be
easily got dehydration and pass from loss of too much body fluid and due to the Common thoueht of
increasing the incidence of diarrhea during summer season, this study is done to find out the relation
between the high incidences rate of diarrhea and weather variation
Methodology: This survey conducted in AL- Markazi Child's Teaching Hospital for the year 2005 the
data were gathered from hospital records for the period (January - December) and age groups
taxonomy used by hospital applied. Descriptive statistical analysis

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Publication Date
Sun Mar 01 2009
Journal Name
Baghdad Science Journal
Synthesis of Some New 1,2,4-Triazoles Derived from 2-Mercaptobenzimidazole
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New 1,2,4-triazole derivatives of 2-mercaptobenzimidazole (MB) are reported. Ethyl (benzimidazole-2-yl thio) acetate (1) has been prepared by condensing 2-mercaptobenzimidazole with ethylchloroacetate. The ester (1) on reacting with hydrazine hydrate gave the corresponding acetohydrazide(2)which was reacted separately with phenylisocyanate and phenylisothiocyanate, followed by ring closure in an alkaline medium giving 3-[(benzimidazole-2-yl thio) methyl]-4-phenyl-1,2,4-triazole-5-ol and 3-[(benzimidazole-2-yl thio) methyl]-4-phenyl-1,2,4-triazole-5-thiol respectively (6,7). Reaction of acetohydrazide (2) with CS2 and ethanol/KOH, gave dithiocarbazate salt (8). Cyclization of (8) with hydrazine hydrate gave 3-[(benzimi

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Anti –phytopathogenic Activities of Cladophora glomerata extract against plant fungi
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The antiphytopathogenic effects of the crude methanol extract of Cladophora glomerata (Lin.) Kützing (Cladophoraceae) which isolated from Al Rashidiya region at north of Baghdad was investigated against two type of plant fungi (Pythium altimum and Rhizoctonia solani) which causes damping off disease where isolated from covered cucumber field in Al-Alyosifia region. Hot methanol extract showed antifungal activity against the two species of fungi in different concentrations(10,25,50 mg/ml) of extract to Cladophora glomerata as percentage inhibition (51.63 ,72.8 ,83.71) and (56.18 ,77.41 ,100)comparing with Pythium altimum and Rhizoctonia solani respectively .primary detection of active compounds showed that macroalgae (Cladoph

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