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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
Mon Apr 04 2022
Journal Name
Neuroquantology
The Role of Adropin as a Novel Biomarker in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Publication Date
Sat Jun 30 2018
Journal Name
Iraqi Journal Of Medical Sciences
CLINICAL UTILITY OF URINARY ANTIGEN TEST AND MOLECULAR METHOD FOR DETECTION OF LEGIONELLA PNEUMOPHILA
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Background: Legionella pneumophila (L. pneumophila) is gram-negative bacterium, which causes Legionnaires’ disease as well as Pontiac fever. Objective: To determine the frequency of Legionella pneumophila in pneumonic patients, to determine the clinical utility of diagnosing Legionella pneumonia by urinary antigen testing (LPUAT) in terms of sensitivity and specificity, to compares the results obtained from patients by urinary antigen test with q Real Time PCR (RT PCR) using serum samples and to determine the frequency of serogroup 1 and other serogroups of L. pneumophila. Methods: A total of 100 pneumonic patients (community acquired pneumonia) were enrolled in this study during a period between October 2016 to April 2017; 92 sam

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Publication Date
Sun Oct 01 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Atherogenic Indices in Type 2 Diabetic Iraqi Patients and Its Association with Cardiovascular Disease Risk
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خلفية البحث: مرض السكري هو عامل خطر لأمراض القلب والأوعية الدموية وتصلب الشرايين وسبب مهم للوفاة. يرتبط خلل الدهون في الدم بشكل شائع بمرض السكري من النوع الثاني ويعتبر مؤشر تصلب الشرايين في البلازما علامة قوية للتنبؤ بخطر الإصابة بتصلب الشرايين وأمراض القلب التاجية. الهدف من البحث: دراسة ارتباط المؤشرات الدهنية لتصلب الشرايين لدى المرضى العراقيين المصابين بالسكري من النوع الثاني ولديهم أمراض قلبية وعائ

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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of The College Of Education For Women
The development of imaginal thinking and its relation with adults' problems
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The behavior of thinking is consider one of the modern concepts that appear in the last 20 years, this concept has attracted the attention of psychologists and researchers for thinking has a great role in many fields like teaching ,educational,economical,cultural and social fields.
One of thinking manner is imaginal thinking that has a great role in human civilization. imaginal thinking lead to innovation ,poems, inventions and arts. imaginal thinkingled to highscores in talented schools by escalating their thinking range and solving problems that consider one of organized and free assumption thinking.
The development of problems thinking strategies reflect the development of organized brain process ability.
That studies assumes

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Publication Date
Fri Mar 03 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Immunological Assessment of Human Adenosine Deaminase Activity in Iraqi Female With Thyroid Autoimmune Disease
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Human Adenosine deaminase is an essential enzyme for modulating the bioactivity of thyroid hormones, and It is important for the maturation and differentiation of lymphocytes, although its clinical importance in thyroid diseases have yet to be identified. Objective: The aim of the current study is to determine the Adenosine deaminase concentration in healthy controls, and in autoimmune thyroid diseases such as Graves' Disease, and Hashimoto's Thyroiditis. Patients and methods: A total of 183 serum specimens of 103 female patients with autoimmune thyroid diseases and 80 healthy control groups were included in this study and collected from the Baghdad Medical City, Iraq. Quantitative Human Adenosine Deaminase ELISA kits were used to estimate

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Publication Date
Wed Jun 11 2008
Journal Name
Journal Of Al-nahrain University
ANALYSIS OF A MOLECULAR DYNAMICS SIMULATION OF THE ACETYLCHOLINESTERASE ENZYME AND ITS COMPLEX WITH (AXILLARIDINE-A) INHIBITOR
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Molecular dynamics (MD) simulations were carried out in order to investigate the binding mode of axillaridine-A at the active site of human acetylcholinesterase (AChE) enzyme. 2.0 nanosecond of MD simulations was made for the protein and the complex to dynamically explore the active site and the behavior of the ligand at the peripheral AChE binding site. These calculations for the enzyme alone showed that the active site of AChE is located at the bottom of a deep and narrow cavity whose surface is lined with rings of aromatic residues and Tyr72 is almost perpendicular to the Trp286 ring and forms a stable - interaction. The size of the active site of the complex decreases with time due to increase the interaction. Axillaridine-A forms

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Diversity Assessment by Molecular Barcoding and Seed Morphology in Ricinus communis L.: Molecular diversity of Ricinus seeds
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Fourteen morphologically varied Ricinus communis L. seeds were collected from different localities in Egypt, El-Sudan and Saudi Arabia. Seed morphology and ITS barcoding analysis were performed to assess their diversity and phylogenetic relationship. Sequence’s alignment of nrITS region from different accessions display high levels of genetic similarities. Cluster analysis could not group different accessions according to their geographical distribution. Nevertheless, the genetic barcodes are interestingly matched with the morphological features of the Ricinus seeds. In conclusion, seed morphology proved to be a valuable tool in evaluating biodiversity and phylogenetic relationship in plant species with different loca

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Publication Date
Sun May 31 2026
Journal Name
Journal Of Stomatology
Association of modifiable and non-modifiable risk factors with periodontal disease in Iraqi individuals: a retrospective study
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Introduction Periodontal diseases are ranked among the most common health problems affecting mankind. These conditions are initiated by bacterial biofilm, which is further modulated by several risk factors. Objectives To investigate the association of different risk factors with periodontal...

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Publication Date
Sun Jun 04 2023
Journal Name
Iraqi Journal Of Biotechnology,
Gene Expression of Adenosine Deaminase Genes 1 and 2 in Female Iraqi Patients with Autoimmune Thyroid Disease
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The current study was carried out to investigate the correlation of gene expressions of ADA1 and ADA2 genes with the development of autoimmune thyroid disease (AITD) in a sample of Iraqi females. One hundred patients with AITD and 80 controls were included. Quantitative real time polymerase chain reaction (qRT–PCR) was utilized for investigation of ADA1 and ADA2 gene expression among patients and controls. The correlation of age and body mass index (BMI) with AITD occurrence comparing with controls was studied. Based on the results of this study, there is high expression level of ADA1 and ADA2 genes in patients compared with healthy controls; also, the gene expression fold (2-ΔΔCT) of ADA1 and ADA2 among AITD patients was recorded and a

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Publication Date
Thu Apr 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of Adiponectin, Irisin, Vitamin D Levels and Their Relation in Iraqi Patients with Non alcoholic Fatty Liver Disease
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Non-alcoholic fatty liver disease (NAFLD) is one of chronic liver and defines by fat accumulation ≥5% in liver which can progresses to non-alcoholic steatohepatitis (NASH). NAFLD related to obesity as well as non obese individuals. Adiponectin is a cytokine secreted from adipose tissue involved NAFLD pathogenesis and liked with obesity. Irisin is a myokine, has a convenient effect against metabolic diseases such as obesity, disylipemia diabetes type 2 and reversed liver steatosis and may be related with NAFLD.  Vitamin D is one of the fat soluble vitamins and more precisely as a pro-hormone through its metabolite (1,25(OH)2 cholecalciferol) the major steroid hormone. After the skin exposure to the light, vitamin D undergoes to

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