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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Sat Dec 24 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Prevalence of AGER gene polymorphism in post menopause Iraqi sample with Osteoporosis and osteopenia in type 2DM
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Osteoporosis (OP)is one of the most important metabolic disorder also affected by interaction of genetic and environmental factors by almost 70% and 30% respectively. Genetic components are identified to strongly effect bone mineral density, bone building and turnover, so they play an important role in determining risk of OP and fragility fractures. This study consists of patient and control group; Group A: (70) postmenopausal women with OP and osteopenia, Group B: (20) control group.  five milliliters of blood sample were divided into three tubes; one tube (1ml) contain gel for obtain serum to measure glucose level, the others tubes containing ethylene-diamine-tetra-acetic acid (EDTA), in 2 tube 2ml stored in deep freeze at (–40

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL COMPUTATION AND APPLICATION WITH GENERALIZED POISSON DISTRIBUTION
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Publication Date
Tue Jan 29 2019
Journal Name
Journal Of The College Of Education For Women
Personality Type and its Relationship with Withdrawal Observer
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The current research was aimed at the following:
1. Measurement of Personality Type Observer of the University students.
2. Identify the differences in Personality Type Observer among the University students according to variable of Sex (male / female). And according to variable of Specialization (scientific / literary)
3. Measurement of Withdrawal of the University students.
4. Identify the differences in Withdrawal among the University students according to variable of Sex (male / female). And according to variable of Specialization (scientific / literary).
5. Identify the relationship between Personality Type Observer and Withdrawal.
To achieve this aims of the research, the researchers set up the instrument is scale

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Publication Date
Sat Oct 23 2021
Journal Name
Indian Journal Of Ecology
Survey and Diagnosis Insects Associated with Fish Ponds
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Publication Date
Sat Oct 01 2022
Journal Name
Al–bahith Al–a'alami
MENTAL PICTURE THEORY AND PROBLEMATIC RELATIONSHIP WITH PROFILING
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Walter Lippmann, speaking about man, says : ” Gradually he makes for himself a trustworthy picture inside his head of the world beyond his reach. “. This means that the picture, whether it was good or bad, it doesn’t happen for nothing, but rather for intentional purposes. Some orientalists make their judgements even before getting to the place concerned with the study.

The mental image is one of the most misused terminology, although the world today has become the world of image, it witnessed the disappearance of the theories that used to consider the media as a reflective mirror for society, also it was confirmed that the media creates what varies from reality and sometimes completely different from reality. The image of

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Publication Date
Wed Oct 07 2020
Journal Name
Journal Of Interdisciplinary Mathematics
Discrete an SIS model with immigrants and treatment
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In this paper, a discrete SIS epidemic model with immigrant and treatment effects is proposed. Stability analysis of the endemic equilibria and disease-free is presented. Numerical simulations are conformed the theoretical results, and it is illustrated how the immigrants, as well as treatment effects, change current model behavior

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Publication Date
Fri Mar 18 2022
Journal Name
Aro-the Scientific Journal Of Koya University
Detecting Deepfakes with Deep Learning and Gabor Filters
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The proliferation of many editing programs based on artificial intelligence techniques has contributed to the emergence of deepfake technology. Deepfakes are committed to fabricating and falsifying facts by making a person do actions or say words that he never did or said. So that developing an algorithm for deepfakes detection is very important to discriminate real from fake media. Convolutional neural networks (CNNs) are among the most complex classifiers, but choosing the nature of the data fed to these networks is extremely important. For this reason, we capture fine texture details of input data frames using 16 Gabor filters indifferent directions and then feed them to a binary CNN classifier instead of using the red-green-blue

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Publication Date
Thu Oct 15 2020
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Iraqi Women with Preeclampsia: Maternal and Neonatal Outcomes
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BACKGROUND: Preeclampsia (PE) is a possible etiology of obstetrical and neonatal complications which are increased in resource-limited settings and developing countries. AIM: We aimed to find out the prevalence of PE in Iraqi ladies and specific outcomes, including gestational weight gain (GWG), cesarean section (CS), preterm delivery (PD), and low birth weight (LBW). METHODS: All singleton pregnant women visiting our tertiary center for delivery were involved over 3 years. PE women were compared with non-PE ladies. Complete history and examination were done during pregnancy and after delivery by the attending obstetrician and neonatologist with full documentation in medical records. RESULTS: PE prevalence was 4.79

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Publication Date
Mon Jul 04 2022
Journal Name
International Journal Of Health Sciences
The association between plasma IL-6 levels and several thalassemia-related clinical features in Iraqi patients
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The present study was set to investigate the potential association between the level of Interleukin-6 (IL-6), as a key component of the pro-inflammatory response, with different thalassemia’s biological and clinical features. For this purpose, one hundred fifty blood samples were collected from 100 beta-thalassemia patients, who attended the Genetic Hematology Centre at Ibn Al- Baladi Hospital in Baghdad, Iraq, and 50 healthy subjects who were employed as a control group. IL-6 levels were estimated using an ELISA Kit, whereas other thalassemia-related clinical features (such as HbA, HbF, ferritin, blood transfusions, splenectomy status, and the history of frequent infection) were additionally assessed. The results of the present s

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Publication Date
Thu Oct 30 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Penetrating Cardiac Injury in a Child Following Nail Gun Accident: Clinical Implications and Public Health Concerns
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Penetrating cardiac injuries caused by nail guns are exceedingly rare but often life-threatening, with reports showing an increasing trend. We described the case of an adolescent male who sustained accidental cardiac penetration by an iron nail while performing carpentry work. Rapid referral to a specialized cardiac center enabled timely surgical intervention, illustrating the pivotal role of early recognition, expedited transfer, and expert management in optimizing outcomes. This case also highlights the grave risks associated with the employment of minors in hazardous occupational settings, where exposure to unsafe environments may lead to catastrophic consequences.

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