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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 Jan 01 2018
Journal Name
Al–bahith Al–a'alami
Using Social Media sites by the Iraqi women and the Achieved The Use of Iraqi Women of Social Networking Sites and the Satisfactions Generated from Them.: A Survey Study of the City of Baghdad
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The problem of this research lies in the fact that there is a lack of accurate scientific perceptions about the size of the use of Iraqi women’s social networking sites and the motives behind this use and the expectations generated by them.
The goals of the research are as follows:
1- Determine the extent of Iraqi women’s use of social networking sites (Facebook, YouTube, twitter, and Instagram).
2- Investigative the motives behind the use of social networking sites by Iraqi women.
3- Detecting the repercussions of Iraqi women’s use of social networking sites (Facebook, you tube, twitter, and Instagram).
The research is classified as a descriptive one. The researchers use the survey methodology. The research commu

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Publication Date
Mon Dec 05 2022
Journal Name
Baghdad Science Journal
K-Nearest Neighbor Method with Principal Component Analysis for Functional Nonparametric Regression
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This paper proposed a new  method to study functional non-parametric regression data analysis with conditional expectation in the case that the covariates  are functional and the Principal Component Analysis was utilized to de-correlate the multivariate response variables. It  utilized the formula of the Nadaraya Watson estimator (K-Nearest Neighbour (KNN)) for prediction with different types of the semi-metrics, (which are based on Second Derivative and Functional Principal Component Analysis (FPCA))  for measureing the closeness between curves.  Root Mean Square Errors is used for the  implementation of this model which is then compared to the independent response method. R program is used for analysing data. Then, when  the cov

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Publication Date
Thu Jun 25 2026
Journal Name
Journal Of Physical Education
A comparative analysis , for some Elkinmetekih variables , in the performance of the skill (Nick shot the front reverse ) , between the players of the Iraqi team and the Egyptian , for young people in squash
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Publication Date
Sun Dec 04 2011
Journal Name
Baghdad Science Journal
Quantitative and Qualitative detect for cheat beef with chicken meat by immunological methods
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beef and chicken meat were used to get Sarcoplasim, the chicken Sarcoplasim were used to prepare antibody for it after injected in rabbit, the antiserums activity were 1/32 by determined with Immune double diffusion test, the self test refer to abele for some antiserums to detected with beef sarcoplasim, which it mean found same proteins be between beef and chicken meat, which it refer to difficult depended on this immune method to detect for cheat of chicken meat with beef, so the antibody for beef sarcoplasim were removed from serum by immune absorption step to produce specific serum against chicken sarcoplasim that it used in Immune double diffusion test to qualitative detect for cheat beef with 5% chicken meat or more at least, and the

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Publication Date
Thu Jan 30 2020
Journal Name
Neuroquantology
Electronic Transfers and (NLO) Properties Predicted by AB Initio Methods with Prove Experimentally
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Hartree-Fock (HF) method relies in the calculations of nonlinear optical properties (NLO) for benzoic acid molecule. Also, another theoretical study is conducted by using the TD-DFT Density Functional Theory through B3LYP/High Base Set 6-311++G (2d,2p) on Gaussian program09. Moreover, an experimental study has been done to obtain the electrons spectrum for benzoic acid with and without ethanol. While the experimental study is done by using UV/VIS. spectrophotometer. Energy gap values of electronic transition between HOMO and LUMO is obtained from theoretical and experimental results. Consequently, the theoretical result for determining the energy gap calculated from EHOMO-LUMO wasvery close to the results of UV / VIS. spectrum. A theoretica

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Publication Date
Wed Jun 28 2023
Journal Name
The Iraqi Journal Of Veterinary Medicine
Haemoglobin Epsilon as a Biomarker for the Molecular Detection of Canine ‎Lymphoma
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Lymphoma is a cancer arising from B or T lymphocytes that are central immune system ‎components. It is one of the three most common cancers encountered in the canine; ‎lymphoma affects middle-aged to older dogs and usually stems from lymphatic tissues, ‎such as lymph nodes, lymphoid tissue, or spleen. Despite the advance in the management of ‎canine lymphoma, a better understanding of the subtype and tumor aggressiveness is still ‎crucial for improved clinical diagnosis to differentiate malignancy from hyperplastic ‎conditions and to improve decision-making around treating and what treatment type to use. ‎This study aimed to evaluate a potential novel biomarker related to iron metabolism,

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Publication Date
Wed Nov 24 2021
Journal Name
International Journal Of Differential Equations
The Impact of Media Coverage and Curfew on the Outbreak of Coronavirus Disease 2019 Model: Stability and Bifurcation
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In this study, the spreading of the pandemic coronavirus disease (COVID-19) is formulated mathematically. The objective of this study is to stop or slow the spread of COVID-19. In fact, to stop the spread of COVID-19, the vaccine of the disease is needed. However, in the absence of the vaccine, people must have to obey curfew and social distancing and follow the media alert coverage rule. In order to maintain these alternative factors, we must obey the modeling rule. Therefore, the impact of curfew, media alert coverage, and social distance between the individuals on the outbreak of disease is considered. Five ordinary differential equations of the first-order are used to represent the model. The solution properties of the system ar

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Publication Date
Wed Mar 02 2022
Journal Name
International Journal Of Drug Delivery Technology
N-Acetyl Cysteine Plus Metformin Versus Metformin Alone in Treatment of Iraqi Women with Polycystic Ovarian Syndrome
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Publication Date
Sat Jan 01 2022
Journal Name
Brazilian Dental Science
Association of matrix metalloproteinase-1-1607 1G/2G single nucleotide polymorphism genotypes with periodontitis in Iraqi population
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Publication Date
Fri Jun 28 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Synthesis, Characterization, Molecular Docking, ADMET Study, and Antimicrobial Evaluation of New Mannich Bases of Isatin–Thiazole Imine Bases
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Background: The isatin molecule is present in many natural substances, including plants and animals, and is used to prepare compounds with various biological activities. Objectives: To synthesize a new series of isatin derivatives with the expectation that they will have antimicrobial activity. Methods: Thiazole Schiff bases were synthesized from various Mannich bases of isatin to evaluate their antimicrobial properties. Initially, Mannich bases (2a–e) were synthesized by reacting isatin with formaldehyde and different secondary amines. Subsequently, they were treated with 2-aminothiazole to yield the final compounds (3a–e). Spectroscopic characterization was done via FT-IR and 1H-NMR. The antimicrobial screening was conducted o

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