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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
Sun Feb 03 2019
Journal Name
Iraqi Journal Of Physics
Performance of humidity sensor based on photonic crystal fiber interferometer
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Photonic Crystal Fiber Interferometers (PCFIs) are greatly used
for sensing applications. This work presents the fabrication and
characterization of a relative humidity sensor based on Mach-
Zehnder Interferometer (MZI), which operates in reflection mode.
The humidity sensor operation based on the adsorption and
desorption of water vapour at the silica-air interface within the PCF.
The fabrication of this sensor is simple, it only includes splicing and
cleaving the PCF with SMF.PCF (LMA-10) with a certain length
spliced to SMF (Corning-28).
The spectrum of PCFI exhibits good sensitivity to humidity
variations. The PCFI response is observed for a range of humidity
values from (27% RH to 85% RH), the positi

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Publication Date
Tue Jun 25 2024
Journal Name
Journal Européen Des Systèmes Automatisés
Whole-Body Anti-Input Saturation Control of a Bipedal Robot
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Publication Date
Sun Mar 17 2019
Journal Name
Baghdad Science Journal
Bioremediation of Petroleum Hydrocarbons Contaminated Soil using Bio piles System
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This study was focused on biotreatment of soil which polluted by petroleum compounds (Diesel) which caused serious environmental problems. One of the most effective and promising ways to treat diesel-contaminated soil is bioremediation. It is a choice that offers the potential to destroy harmful pollutants using biological activity. Four bacterial strains were isolated from diesel contaminated soil samples. The isolates were identified by the Vitek 2 system, as Sphingomonas paucimobilis, Pentoae species, Staphylococcus aureus, and Enterobacter cloacae. The potential of biological surfactant production was tested using the Sigma 703D stand-alone tensiometer showed that these isolates are biological surfactant producers. The bet

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Publication Date
Mon Jan 02 2017
Journal Name
Al-academy
The contribution of the arts to interdisciplinary sciences: Art Therapy
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The history of the arts is closely connected with the history of humankind, since it is impossible to separate our scientific and artistic advances’. Therefore, the current research focuses on the close bond between art and other disciplines. The connection of the arts to the sciences is unequivocal and undisputed; the contributions of artists to the various scientific domains are clear. If one scrutinises the ability of artists to participate in building societies, one will find that the arts have penetrated deeply into a range of products and inventions, starting with the pencil and ending with the missile. The artist’s contributions play a part in the minutest of details across all fields of industry: production, craftsmanship, me

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Publication Date
Fri Nov 02 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
The Impact of Household Hazardous Waste upon the Environment Pollution
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Objectives: To determine the impact of the household hazardous waste’s aspects upon the environment
pollution .and to identify the relationship between the households’ demographic characteristics and the aspects
of household hazardous waste.
Methodology: A descriptive study is conducted between December 14th 2004 to October 20th 2005that uses of
an assessment tool. A probability (simple random sampling) of (336) principal’s households which is selected
from the zones around the (14) primary health care centers as focal points, (8) in the urban and (6) in the rural
areas of Baghdad Governorate. After reliability and validity were determined Data are collected through the use
of an assessment tool that is consist

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Publication Date
Sat Feb 01 2020
Journal Name
International Journal Of Computer Science And Mobile Computing
Hierarchical Fixed Prediction of Mixed based for Medical Image Compression.
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Publication Date
Tue Jun 01 2021
Journal Name
International Journal Of Nonlinear Analysis And Applications
Bayes estimators of a multivariate generalized hyperbolic partial regression model
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Publication Date
Wed Aug 07 2019
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of the health behaviors patterns among women during pregnancy
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Objective:- Women's behavior during pregnancy which can affect the health of their infant , may be influenced by their attitude toward the pregnancy. The study was carried out to assess the pattern of health behaviors for pregnant women. Methodology: A descriptive study was carried out to select randomized (100) pregnant women attending Baghdad Teaching hospital. The data were collected through personal interview by using questionnaire form constructed for the purpose of the study. Results:- The result of the study revealed that the highest percentage of study sample were in age group (21-25) years, primary graduated and house wife . The results showed that the highest percentage( 64%) of them were primigravida, (72%) of them have (1-2)

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Publication Date
Sun Mar 04 2012
Journal Name
Baghdad Science Journal
Allelopathic potential of Myrtle, Myrtus communis L. Upon some crops
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Many experiments were achieved to determine the allelopathic potential of the plant Myrtle parts in which it may affects other plants, like: volatile substances which released from the Myrtle leaves , and its effect examined on the germination (GE) and growth (GR) of the selected crops ; Chickpea ( C ) , Wheat(W) , and Lentil (L)., the aqueous extract of the leaf and the root of the plant examined to test its effect on the (GE) and (GR) of the selected crops ; (C) , (W) , and (L)., also plant residue of (M) and its effect tested on the (GE) and (GR) of the selected crops ; ( C ) , (W) , and (L) . Experiments proceeded on Spring 2007 in the greenhouse conditions , and main results which found were that; the effect of the volatile s

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Publication Date
Fri Dec 12 2003
Journal Name
Iraqi Journal Of Laser
Carbon Dioxide Laser Treatment of Viral Warts: A New Approach
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Verrucae vulgares are commonly encountered. The present work is designed in an attempt to build a systematic procedure for treating warts by carbon dioxide laser regarding dose parameters, application parameters and laser safety.
Patients and Methods: The study done in the department of dermatology in Al-Najaf Teaching Hospital in Najaf, Iraq. Forty-two patients completed the study and follow up period for 3 months. Recalcitrant and extensive warts were selected to enter the study. Carbon dioxide laser in a continuous mode, in non-contact application, with 1 mm spot size was used. The patients were divided into two groups. The first group of patients consisted of 60 lesions divided to 6 equal groups, in whom we use different outputs a

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