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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 Mar 31 2015
Journal Name
Al-khwarizmi Engineering Journal
Characterization of Biochar Produced from IRAQI Palm Fronds by Thermal Pyrolysis
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Abstract

The present paper focuses in a particular on the study of the biochar production conditions by the thermal pyrolysis of biomass from local Iraqi palm fronds, in the absence of oxygen. The biochar product can be used as soil improvers. The effect of temperature on the extent of the thermal pyrolysis process was studied in the range from 523 to 773K with a residence time of 15 minutes and nitrogen gas flow rate of 0.1 l/min. The produced biochar was characterized as will as biomass and degradation products. The results showed that the rate of biochar production decreases with the increasing in temperature, also it was noted that the normalized biochar surface area and pore size increases with the increasin

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Publication Date
Sat Sep 30 2017
Journal Name
Al-khwarizmi Engineering Journal
Thermal Conductivity Enhancement of Iraqi Origin Paraffin Wax by Nano-Alumina
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Abstract

 

Paraffin wax is utilized for the heat storage applications taking advantage from the high stored latent heat during the phase change (from solid to fluid) period. What isn't right with this procedure is that the wax has a little heat transfer rate because of its low thermal conductivity. The thermal conductivity improvement of the paraffin wax has been examined utilizing nano-material with high thermal conductivity. In the recent study, (Al2O3) nanoparticles with weights of 1, 2, and 3% of the paraffin wax were added to the paraffin wax. The Iraqi paraffin wax accessible at the local markets was utilized as a phase change material (PCM).

Many properties of the

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Publication Date
Sun Nov 01 2020
Journal Name
Iop Conference Series: Materials Science And Engineering
Emissions Investigating of Carbon Dioxide Generated by the Iraqi Cement Industry
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Abstract<p>The most used material in the world after water is concrete, which depends mainly on its manufacture of cement leading to the emission of carbon dioxide (CO<sub>2</sub>), flying dust, and other greenhouse gasses (GHGs) resulting in pollution of the atmosphere. The emission of CO<sub>2</sub> from cement production is approximately 5% of the global anthropogenic CO<sub>2</sub>. This research focuses on investigating the amount of CO<sub>2</sub> emission from the Iraqi General Cement Company plants includes the cement factories of Kirkuk, Al-Qa’em, Fallujah, and Kubaisa, using the GHGs Protocol Measures Program (specifically cement based-method).</p> ... Show More
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Publication Date
Mon Mar 30 2020
Journal Name
Neuroquantology
Structural and Optical Analysis of Rhodamine 6G Thin Films Prepared by Q-switched Nd: YAG Pulsed Laser Deposition
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Publication Date
Mon Dec 21 2020
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MOLECULAR CHARACTERIZATION OF CONTRACAECUM RUDOLPHII HARTWICH, 1964 (NEMATODA: ANISAKIDAE) FROM THE CORMORANT PHALACROCORAX CARBO IN IRAQ
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Contracaecum rudolphii Hartwich, 1964 is a nematode which causes major concerns to human and wildlife animal’s health. However, the population genetics of C. rudolphii has been poorly studied in Iraq. In order to gain a deeper understanding in the outline of the genetic diversity of the nematode C. rudolphii that were isolated from its host cormorant Phalacrocorax carbo (Linnaeus, 1758), in the middle areas of Iraq, twenty specimens of C. rudolphii adults were isolated from nine individuals of P. carbo. The first (ITS-1) internal transcribed spacers (ITS) of ribosomal DNA (rDNA) of C. rudolphii were amplified using conventional polymerase chain reaction (PCR); then, the amplicons were subjected to sequencing. Concatenation of ITS-1 (rD

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Publication Date
Tue Jun 01 2021
Journal Name
Veterinary Practitioner
ESTIMATION OF BRAIN NATRIURETIC PEPTIDE HORMONE AS PREDICTOR OF BRAIN STROKE AND NEUROCOGNITIVE IMPAIRMENT IN CHRONIC KIDNEY DISEASE PATIENTS IN BAGHDAD PROVINCE/IRAQ
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Present investigation aimed to study plasma BNP hormone estimation as predictor of brain stroke and neurocognitive in relative with other limitations in CKD patient. The case control experimental study was conducted on CKD patient at Yarmuk Hospital at Baghdad Province, Iraq from February to April 2020. The results showed that there were significant variances (P< 0.05) between CKD patients and control group, there was significant increase in BNP hormone and cystatin-C levels at patient, while ihematological parameters were significantly decreased. The parameters of lipid profile were significantly increased (P<0.05). The result revealed that there was relationship between BNP hormone level and CKD. This support that BNP level is related wit

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Publication Date
Tue Oct 10 2023
Journal Name
Current Trends In Biotechnology And Pharmacy
In silico Molecular Docking and Scrutinizing Druglike Properties of Selected Phytoconstituents Against TAK1, Xanthin Oxidase, and IL-1 β Targets in Gouty Arthritis
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Publication Date
Sun Dec 04 2011
Journal Name
Baghdad Science Journal
Determination of Antibodies (IgG, IgM) against Toxoplasma gondii in Some Iraqi individuals by using ELISA technique
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A total of 258 voluntary blood donors (males 101; females 157) in the age range of 18-52 yr among males and 18-55 yr among females were examined for Toxoplasma gondii antibodies (IgG), and (IgM) by immunological technique (Enzyme linked Immunosorbant Assay) during the period from March 2009 to April 2010. This study covered a wide range of factors including immunological, age ,sex , place of residence and symptoms that may have a possible relationship with toxoplasmosis. Results presented in this study showed clearly that 38 (14.7%) of individuals participated in this study having IgG Toxoplasma Ab, among those 10 samples (9.9%) were males and 28 samples (17.8%) were females. Moreover, we found the prevalence of IgM seropositivity in th

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Publication Date
Wed Dec 11 2019
Journal Name
Journal Of The College Of Education For Women
Investigating Difficulties Faced by Iraqi EFL Learners in Identifying the Illocutionary Force of the Reduplicative Words
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A reduplicative word is an important phenomenon in all language studies because it reflects many functions in language communication such as plurality, emphasis, contrast, imitation.  The various instances of reduplicative words in a particular language reflect the richness and uniqueness of that language. Moreover, such variation gives insights into both culture and thought. A reduplicative word is a linguistic phenomenon found in the syntactic, morphological, phonological and semantic levels. The current study aims at investigating the illocutionary force of English reduplicative words in some selected English colloquial utterances. To achieve this aim, an analytical -pragmatic approach has been used by adopting Searle’s (1979)

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Publication Date
Thu Apr 25 2019
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
MEASUREMENT OF CHEMICAL AND PHYSICAL PROPERTIES IN SOME MINERAL WATER SAMPLES FILLED IN THE MARKETS OF THE PROVINCE OF NAJAF AND COMPARE WITH THE IRAQI AND INTERNATIONAL RATIOS.: MEASUREMENT OF CHEMICAL AND PHYSICAL PROPERTIES IN SOME MINERAL WATER SAMPLES FILLED IN THE MARKETS OF THE PROVINCE OF NAJAF AND COMPARE WITH THE IRAQI AND INTERNATIONAL RATIOS.
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In this research, a selection of some mineral water was selected on the basis of being the most marketed by the owners of shops in Najaf province, with six types, where daily samples of this water were taken by 50 ml for two months from (1/11/2018 -1/1/2019). The following ions concentrations were measured (Br-, Cl-, F-, NO3-, SO42-, Na+, K+, Ca2+, Mg2+), pH and the electrical conductivity were measured and the results were compared with the allowable rates according to the international organizations. It was noted that they conform to international and Iraqi standards.

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