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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
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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Publication Date
Wed Feb 01 2023
Journal Name
Baghdad Science Journal
Breast Cancer MRI Classification Based on Fractional Entropy Image Enhancement and Deep Feature Extraction
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Disease diagnosis with computer-aided methods has been extensively studied and applied in diagnosing and monitoring of several chronic diseases. Early detection and risk assessment of breast diseases based on clinical data is helpful for doctors to make early diagnosis and monitor the disease progression. The purpose of this study is to exploit the Convolutional Neural Network (CNN) in discriminating breast MRI scans into pathological and healthy. In this study, a fully automated and efficient deep features extraction algorithm that exploits the spatial information obtained from both T2W-TSE and STIR MRI sequences to discriminate between pathological and healthy breast MRI scans. The breast MRI scans are preprocessed prior to the feature

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Publication Date
Sun Dec 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Comparison between the effects of Aloe vera and chlorhexidine on clinical periodontal parameters
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Background: Periodontal diseases are one of the major dental pathologies that affect human populations worldwide at high prevalence rates The term periodontal disease usually refers only to plaque related inflammatory disease of the dental supporting tissues. Mouth rinses which act as an anti-plaque agents mostly used as adjuncts to oral hygiene. Aims of the study: To Estimate and compare the effects of Aloe vera relative to chlorhexidine on the clinical periodontal parameters (plaque index, gingival index, bleeding on probing). Material and method: A total of 44 subjects with plaque-induced gingivitis, baseline of data were collected for (PLI, GI, and BOP) and underwent oral hygiene instruction, scaling and polishing, then divided into:

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Physics: Conference Series
Multispectral and Panchromatic used Enhancement Resolution and Study Effective Enhancement on Supervised and Unsupervised Classification Land – Cover
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Publication Date
Sun Jan 13 2019
Journal Name
Iraqi Journal Of Physics
The effect of short range correlation on the inelastic C2 and C4 form factors of 18O nucleus
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The effect of short range correlations on the inelastic Coulomb form factors for excited +2 states (1.982, 3.919, 5.250 and 8.210MeV) and +4 states (3.553, 7.114, 8.960 and 10.310 MeV) in O18 is analyzed. This effect (which depends on the correlation parameterβ) is inserted into the ground state charge density distribution through the Jastrow type correlation function. The single particle harmonic oscillator wave function is used with an oscillator size parameter .b The parameters β and b are adjusted for each excited state separately so as to reproduce the experimental root mean square charge radius of .18O The nucleusO18 is considered as an inert core of C12 with two protons and four neutrons distributed over 212521211sdp−− activ

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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Indian Academy Of Oral Medicine And Radiology
The Degenerative Condylar Change in Temporomandibular Joint Disorder of Iraqi Population and their Variability Based on Clinical Diagnosis
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Background: As a multifactorial disorder, temporomandibular joint (TMD) is difficult to diagnose, and multiple factors affect the joint and cause the temporomandibular disorder. Standardization of clinical diagnosis of TMD should be used to reach a definite clinical diagnosis; the condylar bone may degenerate in accordance with these disorders. Aims: Evaluate the correlation between the clinical diagnosis and degenerative condylar change (flattening, sclerosis, erosion, and osteophyte). Materials and Methods: A prospective study with a study group of 97 TMD patients (total of 194 joints) aged 20 to 50. Patients were sent to cone beam computed tomography (CBCT) to assess the degenerative condylar change. Results: No association was found bet

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Publication Date
Sun Jul 30 2023
Journal Name
Iraqi Journal Of Science
Generalization of Gamma and Beta Functions with Certain Properties and Statistical Application
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     This work is devoted to define new generalized gamma and beta functions involving the recently suggested seven-parameter Mittag-Leffler function, followed by a review of all related special cases. In addition, necessary investigations are affirmed for the new generalized beta function, including, Mellin transform, differential formulas, integral representations, and essential summation relations. Furthermore, crucial statistical application has been realized for the new generalized beta function.  

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Publication Date
Sun Dec 20 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Form a proposal to audit the mutual operations with related parties program in accordance with international standards: Proposal pattern
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The relationships between the related parties constitute a normal feature of trading and business processes. Entities may perform parts of their activities through subsidiary entities, joint ventures and associate entities. In these cases, the entity has the ability to influence the financial and operating policies of the investee through control, joint control or significant influence,  So could affect established knowledge of transactions and balances outstanding, including commitments, and relationships with related to the evaluation of its operations by users of financial statements, including the risks and opportunities facing the entity assess the parties. So research has gained importance of the importance of the availability

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Publication Date
Sat Jun 30 2007
Journal Name
Al-kindy College Medical Journal
Electro Cardiographic Features of Ptients With Tetralogy of Fallot
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Background: For many decades, the ECG was the
workhorse of non-invasive cardiac test and today although
other techniques provide more details about the structural
anomalies in congenital heart diseases, ECG is likely to be
part of clinical evaluation of patients with such diseases
because it is inexpensive, easy to perform and in certain
situations may be both sensitive and specific.
Objective: this study carried out to identify the pattern of
ECG study in patients with TOF.
Methods: this is a retrospective study of 200 patients
with TOF, referred to Ibn Al-Bitar cardiac center from
April 1993 to May 1999. The diagnosis of TOF established
by echocrdiographic, catheterization and angiographic
study.

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