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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
Wed Aug 19 2020
Journal Name
International Journal Of Research In Social Sciences And Humanities
HUMOUR IN THE AMERICAN AND BRITISH COMEDYEPISODES: A DISCOURSE ANALYSIS STUDY
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DBNRAAK Mohammed, International Journal of Research in Social Sciences and Humanities, 2020

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Publication Date
Sun Mar 03 2024
Journal Name
Mesopotamian Journal Of Cybersecurity
Using Information Technology for Comprehensive Analysis and Prediction in Forensic Evidence
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With the escalation of cybercriminal activities, the demand for forensic investigations into these crimeshas grown significantly. However, the concept of systematic pre-preparation for potential forensicexaminations during the software design phase, known as forensic readiness, has only recently gainedattention. Against the backdrop of surging urban crime rates, this study aims to conduct a rigorous andprecise analysis and forecast of crime rates in Los Angeles, employing advanced Artificial Intelligence(AI) technologies. This research amalgamates diverse datasets encompassing crime history, varioussocio-economic indicators, and geographical locations to attain a comprehensive understanding of howcrimes manifest within the city. Lev

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Publication Date
Mon Jan 01 2024
Journal Name
Explainable Artificial Intelligence In The Digital Sustainability Administration
Artificial Intelligence and Trends Using in Sustainability Audit: A Bibliometric Analysis
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Publication Date
Mon Aug 31 2020
Journal Name
Bmc Oral Health
The success of using 2% lidocaine in pain removal during extraction of mandibular premolars: a prospective clinical study
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Abstract<sec><title>Background

The purpose of this study was to evaluate the anesthetic effectiveness of a buccal infiltration technique combined with local massage (using 2% lidocaine) in the extraction of mandibular premolars to be utilized as an alternative to the conventional inferior alveolar nerve block.

Methods

Patients eligible included any subject with a clinical indication for tooth extraction of the mandibular 1st or 2nd premolars. All patients were anesthetized buccally by local infiltration technique followed by an external pressure applied for 1 min directly over the injection area. In each case, another local

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Publication Date
Thu Sep 26 2019
Journal Name
Al-kindy College Medical Journal
Administration of I.V. lidocaine before induction of general anesthesia prolong suxamethonium action in caesarian section surgeries. clinical assessment--------
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Background: Known as suxamethonium or succinylcholine, is a medication used to cause short-term paralysis as part of general anesthesia. The duration of operation is one of the important factors accounting to the success of the operation. Simple safe available drug can change the plan of anesthesia.

Objective:  The purpose of this study was to assess adding Lidocaine three minutes intravenously before induction of general anesthesia on the duration of optimum prolongation the action of  Suxamethonium  . With other group with regular meth

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Publication Date
Fri Dec 07 2018
Journal Name
Asian Journal Of Pharmaceutical And Clinical Research
IMMUNOHISTOCHEMICAL EXPRESSION OF THE PROMISING THERAPEUTIC TARGET (HUMAN EPIDERMAL GROWTH FACTOR RECEPTOR 2/NEU) IN IRAQI PATIENTS WITH MEDULLOBLASTOMA
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Objectives: With the advent of ongoing novel modalities toward the treatment of human epidermal growth factor receptor 2 (HER2)/NEU - positive malignancies, the serious side effects of chemoradiotherapy have been minimized. Hence, this study was conducted to identify the patterns of immunohistochemical expression of the promising therapeutic target (HER2/NEU) among Iraqi patients with medulloblastoma in an attempt to provide basic histological information’s that would help in future clinical researches.Materials and Methods: In this retrospective study, 42 formalin - fixed paraffin - embedded tissue blocks represent cases of surgically removed medulloblastomas were retrieved from the archived materials in a specialized surgical ho

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Publication Date
Fri Sep 01 2006
Journal Name
Journal Of Faculty Of Medicine Baghdad
The Significance Of Maternal Total Serum Homocysteine Level In Iraqi Mothers Who Had Previous Babies With Neural Tube Defects
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Background: Neural tube defects (NTDs) are said to be inherited in a multifactorial fashion, i.e. genetic-environmental interaction. Maternal nutritional deficiencies had long been reported to cause NTDs, especially folate deficiency during early pregnancy. More attention had been paid to the exact mechanism by which this deficiency state causes these defects in the developing embryo. The most significant of all researches was that connecting reduced folate and increased homocysteine level in maternal serum on one hand and the risk of developing a NTD baby on the other hand. Objectives : to determine the significance of homocysteine level in Iraqi mothers who gave birth to babies with NTDs as compared to normal controls. Patients, Materials

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Publication Date
Mon Sep 25 2023
Journal Name
International Journal Of Energy Production And Management
Reducing Energy Consumption in Iraqi Campuses with Passive Building Strategies: A Case Study at Al-Khwarizmi College of Engineering
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University campuses in Iraq are substantial energy consumers, with consumption increasing significantly during periods of high temperatures, underscoring the necessity to enhance their energy performance. Energy simulation tools offer valuable insights into evaluating and improving the energy efficiency of buildings. This study focuses on simulating passive architectural design for three selected buildings at Al-Khwarizmi College of Engineering (AKCOE) to examine the effectiveness of their cooling systems. DesignBuilder software was employed, and climatic data for a year in Baghdad was collected to assess the influence of passive architectural strategies on the thermal performance of the targeted buildings. The simulations revealed that the

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Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
Effect of pyridine and pyridine with substituent on photoluminescence of nanoparticles CdS prepared by liquid –liquid interface reaction
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Liquid – liquid interface reaction is the method for
preparation nanoparticles (NP'S) which depend on the super
saturation of ions that provide by using the system that consist from
toluene and water, the first one is above the second to obtain
nanoparticles (NP's) CdS at the interface separated between these
two immiscible liquid. The structure properties were characterized by
XRD-diffraction and transmission electron microscopy.
The crystalline size estimate from X-ray diffraction pattern
using Scherer equation to be about 7nm,and by TEM analysis give us
that ananosize is about 5 nm which give a strong comparable with
Bohr radius. Photoluminescence analysis give two emission peak,
the first one around

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Publication Date
Wed Jun 21 2023
Journal Name
Journal Of Electrochemical Science And Engineering
Phenol removal by electro-Fenton process using a 3D electrode with iron foam as particles and carbon fibre modified with graphene
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The 3D electro-Fenton technique is, due to its high efficiency, one of the technologies suggested to eliminate organic pollutants in wastewater. The type of particle electrode used in the 3D electro-Fenton process is one of the most crucial variables because of its effect on the formation of reactive species and the source of iron ions. The electrolytic cell in the current study consisted of graphite as an anode, carbon fiber (CF) modified with graphene as a cathode, and iron foam particles as a third electrode. A response surface methodology (RSM) approach was used to optimize the 3D electro-Fenton process. The RSM results revealed that the quadratic model has a high R2 of 99.05 %. At 4 g L-1 iron foam particles, time of 5 h, and

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