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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 Dec 01 2021
Journal Name
Gene Reports
The molecular study for evaluation the antibiotic resistance of Escherichia coli and Klebsiella pneumoniae bacteria isolated from urinary tract infection patients
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Urinary tract infection is a bacterial infection that often affects the bladder and thus the urinary system. E. coli is one of the leading uropathogenic bacteria that cause urinary tract infections. Uropathogenic E. coli is highly effective and successful in causing urinary tract infections through biofilm formation and urothelial cell invasion mechanisms. Other organisms that cause urinary tract infections include members of the Enterobacteriaceae family, streptococci and staphylococci species and perch. In addition, K.penumoniae is another important gram-negative bacterium that causes urinary tract infections. With the PCR technique, unseen bacterial species can be detected using standard clinical microbiology methods. In this study, the

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Publication Date
Wed May 10 2023
Journal Name
Journal Of Engineering
REMOVAL OF PHENOLIC COMPUNDS FROM AQUEOUS SOLUTIONS BY ADSOPTION ONTO ACTIVTED CARBONS PREPARED FROM DATE STONES BY CHEMICAL ACTIVATION WITH FeCl3
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Activated carbon prepared from date stones by chemical activation with ferric chloride (FAC) was used an adsorbent to remove phenolic compounds such as phenol (Ph) and p-nitro phenol (PNPh) from aqueous solutions. The influence of process variables represented by solution pH value (2-12), adsorbent to adsorbate weight ratio (0.2-1.8), and contact time (30-150 min) on removal percentage and adsorbed amount of Ph and PNPh onto FAC was studied. For PNPh adsorption,( 97.43 %) maximum removal percentage and (48.71 mg/g) adsorbed amount was achieved at (5) solution pH,( 1) adsorbent to adsorbate weight ratio, and (90 min) contact time. While for Ph adsorption, at (4) solution pH, (1.4) absorbent to adsorbate weight ratio, and (120 min) contact

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Publication Date
Sun Jun 28 2026
Journal Name
Nasaq
Religiosity in Iraqi society
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Publication Date
Sun Sep 01 2013
Journal Name
Baghdad Science Journal
Assessment of Salivary and Serum Proteins in Patients with Oral Tumors
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The qualified subjects for this study included 33 patients with benign and malignant oral tumors aged 15-75 years and 31 matched age and gender healthy subjects used as control. Proteins measurements included total protein, albumin, globulines in sera and saliva samples, and immunoglobulins (IgG, IgM, IgA) in sera samples of control and patients. Meanwhile, polyacrylamide gel electrophoresis (PAGE) was used to differentiate between protein patterns in both serum and saliva samples among the studied groups. The gel was also stained for glycoprotein to evaluate as well the changes in glycoprotein contents. For total protein, the results revealed a signifigant increase (P?0.01) in both samples (serum and saliva) of patient group. Albumin conce

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Publication Date
Sat Sep 30 2017
Journal Name
College Of Islamic Sciences
Representations of the ego and the other In the Iraqi feminist novel
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The other is a problematic concept and can be achieved only by the existence of difference and differentiation between human groups in views and views, the other is out of the ego, which is different religiously, politically, socially, culturally, place and language.
We take from the Iraqi feminist novel analytical field to reflect the image of the other in the novelist world, and the models chosen for the study are: the novel granddaughter of American novelist Anaam Kjie Ji, and novel how the sky seemed close to the novelist Batoul al-Khudairi, and novel when you wake up the smell of novelist Dni Ghali, and the rope of the umbilical and the novel Shufuni Shufuni The novel by Samira Al-Manea, the novelist of the novelist Alia Mamdouh,

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Publication Date
Mon Jan 01 2024
Journal Name
Iranian Journal Of Veterinary Medicine
Comparative Study of Bacterial Contamination in Local Iraqi Sheep and Goats Semen
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Background: Semen contamination is a detrimental factor in decreasing fertility. Seasonal changes may affect the contamination, too. Objectives: This study was designed to detect semen contamination in ovine and caprine during different seasons. Methods: Six fully mature male sheep and goats were subjected to electro-ejaculator collection twice monthly from February 1, 2022, to January 31, 2023 (Spring, February 1, 2022-April 30, 2022; Summer, May 1, 2022, July 31, 2022; Autumn August 1, 2022, October 31, 2022; Winter November 1, 2022, January 31, 2023), for studying the seasonal effect. A total of 288 semen samples were collected from both species (36 samples from each per season). All samples were subjected to bacterial isolatio

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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Role of Progranulin and its Implication in Knee Osteoarthritis among Iraqi Patients
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Background: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p

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Publication Date
Sun Jul 01 2012
Journal Name
Eastern Mediterranean Health Journal
Knowledge and practices of women in Iraqi universities on breast self examination
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This study evaluated the knowledge and practice of breast self-examination (BSE), among a sample of educated Iraqi women. The study sample comprised 858 women aged 18–62 years affiliated to 6 major Iraqi universities, categorized according to occupation as teaching staff (11.5%), administrative staff (18.0%) and students (70.5%). Data were collected by a self-completed questionnaire. In all, 93.9% of the women had heard about BSE, the main source of information was television (39.9%), doctors (18.4%) and the awareness campaign of the Iraqi National Breast Cancer Research Programme (11.6%). Only 53.9% of the women practised BSE; the most common excuses by those that did not were lack of knowledge of the significance of BSE (42.0%) and lack

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Publication Date
Sat May 01 2021
Journal Name
Journal Of Physics: Conference Series
Morphological study of bronchial tree and lung in Iraqi weasel (Herpestes javanicus)
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Abstract<p>The current study aimed to identify the morphological description and branches of the bronchial tree and lung for the weasel <italic>Herpestes javanicus</italic> as one of the Iraqi mammals inhabiting the Iraqi environment. In the current study, 10 samples with an mean weight of 288-564 g were used, trachea and lung were removed from the samples and confirmed using proven solutions and laboratory tests were conducted on 5 samples of the study to identify the branches of the bronchial tree using the technique of casting resin and then exposing the samples to erosion. Weasel has a pair of bright pink sponge lungs that occupy most of the thoracic cavity. The lungs look similar </p> ... Show More
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Publication Date
Tue Sep 19 2017
Journal Name
Al-academy
The Soul and Body Dichotomy in the Performance of the Iraqi Actors
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The body of the actor and its expressive significance is an essential topic in studying acting . it is not only confined to the study of soul and body from philosophical aesthetic perspective , but also to study the conception and mechanism of such a dichotomy followed by theatre directors and theorists , who are highly concerned with the creativity of actors . The researchers believe that such a study would be of benefit for actors as well as others working in theatre .                             

     The study falls into two sections . the first deals with the phi

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