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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
Fri Dec 15 2023
Journal Name
Iraqi Journal Of Laser
The Reliability of Two Different Laser Wavelengths in Inducing Bone Healing Around Dental Implants: Comparative Clinical Trial
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Background/purpose: Dental implantology involves different treatments that have been used in conjunction with dental implant surgery to increase implant stability and bone regeneration process. Photobiomodulation( PBM) can be one of these techniques. The objective of this study was to evaluate the bone density around implants. Materials and methods: in this study, 10 individuals had 20 implants inserted in the posterior of their mandibles. each patient received two implants the left side served as the control whereas the right side served as the study group with a diode laser (same patients). measurements were made for each implant. Measurements were obtained using cone-

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Publication Date
Tue Jun 21 2022
Journal Name
Journal Of Planner And Development
Spatial analysis of primary and secondary education se rvices in the city of Ramadi
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The researchers aim of this research to analyze the reality of educational services in the city of Ramadi in order to reveal the efficiency of the spatial distribution of schools at the level of residential neighborhoods and the requirements of the population, based on the standards and indicators for this service.

The research problem related to the educational function of the city of Ramadi was formulated by asking about the efficiency of the spatial distribution of educational services and whether there is a balance in the distribution of schools to residential neighborhoods in a way that meets the requirements of the population, and in order to answer the research problem, the research hypothesis was formulated that there is

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Obstacles of banking insurance and its affection analysis of financial ratios in insurance companies
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Find the impediments Activity vital and important, but focuses a bancassurance activity, diagnosis and its impact on the financial ratios indicators for insurance companies. The researcher has adopted in his research on several financial ratios used to analyze the financial performance of a (relative profitability, liquidity ratio and the ratio of solvency) of the company Iraqi insurance for a period of one year (2009) to a year (2015), based on the annual reports and financial statements (balance sheet revealed income), financial statements for insurance premiums for banks research sample of this research has addressed several topics of theoretical and practical body through which the researcher obstacles to banking and insurance experi

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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
Analysis and Study of the Effect of Atmospheric Turbulence on Laser weapon in Iraq
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One of the most important challenges facing the development of laser weapons is represented by the attenuation of the laser beam as it passed through the layers of atmosphere.This paper presents a theoretical study to simulate the effect of turbulence attenuation and calculates the decrease of laser power in Iraq. The refractive index structure C_n^2 is very important parameter to measure the strength of the atmospheric turbulence, which is affected by microclimate conditions, propagation path, season and time in the day. The results of measurements and predictions are based on the Kolmogorov turbulence theory. It was demonstrated by simulations that the laser weapons in Iraq were severely affected due to the large change in temperatures,

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Publication Date
Thu Dec 26 2019
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
ANALYSIS OF MICROFACIES AND DEPOSITIONAL ENVIRONMENT OF LIMESTONE IN YOSONEGORO AREA, GORONTALO PROVINCE, INDONESIA
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    The research location is the northern part of the Basin of Limboto Lake; the focus of the research is the limestone outcrop with 24 meter thickness in Yosonegoro area. The purpose of the study is to find out facies, standard microfacies and depositional environment on Limboto limestone. The research method carried out consisted of three methods namely the measured section, petrographic analysis and biostratigraphy analysis.

 

The limestone facies in the Yosonegoro area consist of two facies. Then, based on sedimentary structure, composition, color, precipitation texture, terrestrial origin components and the organism content, the two facies can divided into three different microfacies. Paleobathyme

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Publication Date
Thu Jan 01 2015
Journal Name
Journal Of The College Of Languages (jcl)
A Socio-Pragmatic Analysis of Lamentation in Selected Elegies of Gray and AL-Khansaa'
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This research is an attempt to explore a social and pragmatic phenomenon of lamentation in elegies of Gray and AL-Khansaa' who represent two different cultures. It illustrates the intended meaning of lamentation in English and Arabic and finds how the two languages express this purpose of poetry by analysing it socio-pragmatically adopting Searle's models (1969),and its modifications. Lamentation is considered as a mournful poem lamenting the death of  whole humanity as Gray's elegy and of an individual as AL-Khansaa's elegy. So, Gray portrays a universal picture concerning his lamentation, while AL-Khansaa' portrays an individual and subjective picture regarding her lamentation. As  branches of linguistics, sociolinguistics de

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Publication Date
Wed Jun 30 2021
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
ELECTROCHEMICAL PREPARATION OF A MOLECULAR IMPRINTED POLYMER ELECTRODE FOR ESTEMATION OF ASPIRIN USING TWO DIFFERENT FUNCTIONAL MONOMERS.: ELECTROCHEMICAL PREPARATION OF A MOLECULAR IMPRINTED POLYMER ELECTRODE FOR ESTEMATION OF ASPIRIN USING TWO DIFFERENT FUNCTIONAL MONOMERS.
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For aspirin estimated, a molecularly imprinted polymer MIP-ASP electrodes were generated by electro-polymerization process, the electrodes were prepared by combining the template (aspirin) with (vinyl acetate (VA), 1-vinylimidizole (VIZ) as a functional monomer and N, N-methylene bisacrylamide (MBAA) as crosslinkers using benzoyl peroxide (BPO) as an initiator. The efficiency of the membrane electrodes was analyzed by differential pulse voltammetry (DPV). Four electrodes were synthesized using two different plasticizers, di-butyl sebacate (DBS), di-octyl phthalate (DOP) in PVC matrix. Scanning electron microscopy (SEM) was used to describe the generated MIP, studying the electrodes properties, the slope, detection limit, and life

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Assessing the Activity of Renin and GST in the Serum of Ladies Suffering from Polycystic Ovary Syndrome and COVID-19 to Predict the Danger of Cardiac Disease
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The coronavirus-pandemic has a major impact on women's-mental and physical-health. Polycystic-ovary-syndrome (PCOS) has a high-predisposition to many cardiometabolic-risk factors that increase susceptibility to severe complications of COVID-19 and also exhibit an increased likelihood of subfertility. The study includes the extent of the effect of COVID-19-virus on renin-levels, glutathione-s-transferase-activity and other biochemical parameters in PCOS-women. The study included 120 samples of ladies that involved: 80 PCOS-patients, and 40 healthy-ladies. Both main groups were divided into subgroups based on COVID-19 infected or not. Blood-samples were collected from PCOS-patients in Kamal-Al-Samara Hospital, at the period between Decembe

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Publication Date
Sun Jul 02 2023
Journal Name
Journal Of Pakistan Association Of Dermatologists
The frequency of acute radiodermatitis and associated risk factors among patients with breast cancer treated by radiotherapy
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Background: Acute radiodermatitis is a common side effect during and after radiotherapy course in breast cancer patients treated by radiotherapy. This study assess the frequency of acute radiodermatitis and record the predictive factors for acute radiodermatitis. Patients and Methods: A descriptive case series study conducted at Baghdad, Iraq from August 2020 to September 2021. 70 female scheduled for radiotherapy sessions enrolled in this study. sociodemographic data were recorded and Skin examination before radiotherapy and weekly till the end of the radiotherapy sessions was done to report the frequency, risk factors, clinical picture and grades of acute radiodermatitis based on The National Cancer Institute’s Common Terminology Crite

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Scopus
Publication Date
Thu Apr 21 2022
Journal Name
Journal Of Ecological Engineering
Simultaneous Adsorption of Ternary Antibiotics (Levofloxacin, Meropenem, and Tetracycline) by SunFlower Husk Coated with Copper Oxide Nanoparticles
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In this study, a new adsorbent derived from sunflower husk powder and coated in CuO nanoparticles (CSFH) was investigated to evaluate the simultaneous adsorption of Levofloxacin (LEV), Meropenem (MER), and Tetracycline (TEC) from an aqueous solution. Significant improvements in the adsorption capacity of the sunflower husk were identified after the powder particles had been coated in CuO nanoparticles. Kinetic data were correlated using a pseudo-second-order model, and was successful for the three antibiotics. Moreover, high compatibility was identified between the LEV, MER, and TEC, isotherm data, and the Langmuir model, which produced a better fit to suit the isotherm curves. In addition, the spontaneous and exothermic nature of the adsor

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