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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 Jan 04 2026
Journal Name
Iraqi Journal Of Biotechnology
The Frequency of Some Colibactin Genes Amongst the Clinical Strains of E. coli Isolated From Urinary Tract Infections in Iraq
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Escherichia coli has been recognized worldwide as the most common causative agent for severe infections of the urinary tract. Colibactin is a genotoxin produced through a gene cluster called polyketide synthase (pks) island by members of Enterobacteriaceae. Limited information is available about the frequency of colibactin in E. coli isolates in Iraq. Hence, this study aimed to examine the frequency of some colibactin genes (CIbA and CIbQ) in clinical isolates of E. coli obtained from urinary tract infections (UTIs) in Iraq. Between October 2023 and January 2024, 120 urine samples were collected from females diagnosed with UTIs in Iraqi hospitals. 70 E. coli isolates were isolated after identification by biochemical methods and confirmed by

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Publication Date
Wed Jan 01 2025
Journal Name
Academic Science Journal
Role of efflux pump genes in the antibiotic resistance of Klebsiella pneumoniae bacteria isolated from clinical cases: A Review Paper
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Publication Date
Fri Sep 30 2011
Journal Name
Al-khwarizmi Engineering Journal
Coagulation-Flocculation process to treat Pulp and Paper Mill Wastewater by Fenugreek Mucilage Coupled with Alum and Polyaluminum Chloride
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The wastewater arising from pulp and paper mills is highly polluted and has to be treated before discharged into rivers. Coagulation-flocculation process using natural polymers has grown rapidly in wastewater treatment. In this work, the performance of alum and Polyaluminum Chloride (PACl) when used alone and when coupled with Fenugreek mucilage on the treatment of pulp and paper mill wastewater were studied. The experiments were carried out in jar tests with alum, PACl and Fenugreek mucilage dosages range of 50-2000 mg/L, rapid mixing at 200 rpm for 2 min, followed by slow mixing at 40 rpm for 15 min and settling time of 30 min. The effectiveness of Fenugreek mucilage was measured by the reduction of turbidity and Chemical Oxygen Demand

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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
INVESTIGATION OFsHLA-GAND IT’S RECEPTOR (LILRB4) IN IRAQI PATIENTS INFECTED WITH L. INFANTUMAND THEIR EFFECTS ON THE LEVEL OF IL-12
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Visceral leishmaniasis(VL) or kala-azar is one of the world most neglected tropical diseases in mortality and fourth in morbidity, rK39 dipstick was used to diagnose the suspected infected patients as easiest and rapid technique for VL diagnostic, the disease out-coming required to the differentiation of cell mediated immunity either T-helper 1(Th-1) or (Th-2). One of main pointers that may be considered as one of immune evasion strategy in the host-parasite interplay is HLA-G level alteration. HLA-G Known as a special proteins (non-classical HLA class I) molecules which can suppress the immune system by T-cell functions impaired in the aid with target receptors as LILRB4. The development of the cell mediated immunity initiated with Interle

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Publication Date
Wed Sep 20 2023
Journal Name
Journal Of Applied And Natural Science
Detection of some virulence genes (esp, agg, gelE, CylA) in Enterococcus faecalis isolated from different clinical cases at Baghdad
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The virulent genes are the key players in the ability of the bacterium to cause disease. The products of such genes that facilitate the successful colonization and survival of the bacterium in or cause damage to the host are pathogenicity determinants. This study aimed to investigate the prevalence of virulence factors (esp, agg, gelE, CylA) in E. faecalis isolated from diverse human clinical collected in Iraqi patient , as well as to assess their ability to form biofilm and to determine their haemolytic and gelatinase activities. Thirty-two isolates of bacteria Enterococcus faecalis were obtained, including 15 isolates (46.87%) of the urine, 6 isolates (18.75%) for each of the stool and uterine secretions, and 5 isolates (15.62%) of the wo

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Publication Date
Sun Sep 15 2024
Journal Name
Journal Of Baghdad College Of Dentistry
The reliability of insertion torque as an indicator for primary stability in immediate dental implant: A prospective clinical study
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Background: The primary stability of the dental implant is a crucial factor determining the ability to initiate temporary implant-supported prosthesis and for subsequent successful osseointegration, especially in the maxillary non-molar sites. This study assessed the reliability of the insertion torque of dental implants by relating it to the implant stability quotient values measured by the Osstell device. Material and methods: This study included healthy, non-smoker patients with no history of diabetes or other metabolic, or debilitating diseases that may affect bone healing, having non-restorable fractured teeth and retained roots in the maxillary non-molar sites. Primary dental implant stability was evaluated using a torque ratc

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Publication Date
Tue Oct 02 2018
Journal Name
Iraqi Journal Of Physics
Nonlinear optical properties of polymer [PMMA] thin films doped with dye lasing compounds, Rhodamine 6G and Acriflavine in chloroform solvent by using dip coating method
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The fluorescence emission of Rhodamine 6G (R6G) and Acriflavine dyes in PMMA polymer have been studied by changing the irradiation and exposure time of laser light to know the effect of this parameter. It was found that the fluorescence intensity decreases in the polymer samples doped dyes as the exposure time increases and then reaches stabilization at long times, this behavior called photobleaching, which have been shown in liquid phase less than solid phase. Using 2nd harmonic with wavelength 530 nm laser, the photobleaching effect in the two dye-doped polymers different solvent but same was studied. It was observed that photobleaching of by different solution and by using dip spin coating the photobleaching seem in liquid phase

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Publication Date
Tue Oct 02 2018
Journal Name
Iraqi Journal Of Physics
Nonlinear optical properties of polymer [PMMA] thin films doped with dye lasing compounds, Rhodamine 6G and Acriflavine in chloroform solvent by using dip coating method
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The fluorescence emission of Rhodamine 6G (R6G) and Acriflavine dyes in PMMA polymer have been studied by changing the irradiation and exposure time of laser light to know the effect of this parameter. It was found that the fluorescence intensity decreases in the polymer samples doped dyes as the exposure time increases and then reaches stabilization at long times, this behavior called photobleaching, which have been shown in liquid phase less than solid phase. Using 2nd harmonic with wavelength 530 nm laser, the photobleaching effect in the two dye-doped polymers different solvent but same was studied. It was observed that photobleaching of by different solution and by using dip spin coating the photobleaching seem in liquid phase more

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Publication Date
Thu Apr 17 2008
Journal Name
Anbar Journal Of Agricultural Sciences 6 (2)‏
Influence of foliar sprays with Copper and Zinc on the resistance of citrus rootstocks to gumosis caused by Phytophthora citropthora. ‏
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Publication Date
Sat Sep 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Multi-level analysis applications in business studies
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The current research aims to provide a conceptual and applied frame  on the subject of multi- level analysis in the research of business administration. The research tries to address some of the problems that befall the preparation of research and studies at the Arab level and local level, where the unity of theory and measurement and analysis, as well as clarify  the various types of conceptual constructs and give researchers the ability to  distinguish different models related to the level of analysis. On the other hand, this research  provides an example of 

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