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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 Oct 09 2023
Journal Name
Nasaq
A Critical Formalistic Reading in Emily Dickinson’s I felt a Funeral, in my Brain and T.S.Eliot’s The Love Song of J. Alfred Prufrock
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A CRITICAL OVERVIEW IN SELECTED POEMS

Publication Date
Sun Dec 05 2010
Journal Name
Iraqi Journal Of Laser
Comparative Histological Study of Dentinopulpal Responses in Class I Cavity Treated by Er: YAG Laser and Conventional Cavity Preparations: An in Vivo Trial
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The purpose of this study is to investigate the histopathological response of dentinopulpal
response of human teeth to the Er: YAG laser cavity preparation in comparison with the conventional
class I cavity preparation. Thirty five sound human upper and lower first premolar teeth which were
needed to be extracted for orthodontic purposes were used in the study. Regarding to the method of
cavity preparation, the teeth were grouped into three groups; Group1; Control group which consists of
seven sound teeth without cavity preparation, Group2; Conventional cavity preparation group and group
3; Er: YAG laser cavity preparation group. Each of Group2 and3 consists of fourteen teeth that is
subdivided into: A. 7teeth that e

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Publication Date
Sun Jun 13 2021
Journal Name
Molecular Crystals And Liquid Crystals
Liquid crystal behavior of Ag(I) complexes based on a series of mesogenic 1,3,4-thiadiazole ligands
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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Future of Mathematical Modelling: A Review of COVID-19 Infected Cases Using S-I-R Model
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The spread of novel coronavirus disease (COVID-19) has resulted in chaos around the globe. The infected cases are still increasing, with many countries still showing a trend of growing daily cases. To forecast the trend of active cases, a mathematical model, namely the SIR model was used, to visualize the spread of COVID-19. For this article, the forecast of the spread of the virus in Malaysia has been made, assuming that all Malaysian will eventually be susceptible. With no vaccine and antiviral drug currently developed, the visualization of how the peak of infection (namely flattening the curve) can be reduced to minimize the effect of COVID-19 disease. For Malaysians, let’s ensure to follow the rules and obey the SOP to lower the

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Using the Abbreviated Version of Modification of Diet in Renal Disease Formula as A Primary Estimate for the Prevalence of Undiagnosed Chronic Kidney Disease in Patients with Acute Stroke
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Introduction: The association between acute stroke and
renal function is well known. The aim of this study is to
know which group of patients with acute stroke is more
likely to have undiagnosed Chronic Kidney Disease and
which risk factors are more likely to be associated with.
Methods:We studied 77 patients who were diagnosed to
have an acute stroke.Patients were selected between
April2011andJune 2011 using the " 4-variable
Modification of
Diet in Renal Disease Formula " which estimates
Glomerular Filtration Rate using four variables :serum
creatinine ,age ,race and gender.
Results :The study included 38 male and 39 females
patients ,aged (35-95) years. Glomerular Filtration Rate in
patients wi

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Publication Date
Sun Dec 07 2008
Journal Name
Baghdad Science Journal
EFFECT OF HARDENING TO DROUGHT TOLERANCE ON THE MOISTURE CONTENT OF SUNFLOWER PLANT. I. MOISTURE PERCENTAGEIN ROOT AND STEM
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Two field experiments were conducted during the spring seasons of 2000,2001.The aim was to study the effect of hardening to drought tolerance on moisture percentage in root and stem of sunflower plant during growth stages . Asplit-split plots design was used with three replications.The main plots included irrigation treatments:irrigation to100%(full irrigation),75and50%of available soil water.The sub plots were the cultivars Euroflor and Flame.The sub-sub plots represented four seed soaking treatments :Control(unsoaked),soaking in water ,Paclobutrazol solution(250ppm),and Pix solution(500ppm). The soaking continued for 24 hours then seeds were dried at room temperature until they regained their original weight. Amount of water

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Publication Date
Mon Sep 04 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Factors Influencing Adalimumab Treatment Response in Patients with Rheumatoid Arthritis: The Future of Clinical Expertise
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Rheumatoid arthritis (RA) is characterized by persistent joint inflammation, which is a defining feature of this chronic inflammatory condition. Considerable advancements have been made in the field of disease-modifying anti-rheumatic medicines (DMARDs), which effectively mitigate inflammation and forestall further joint deterioration. Anti-tumor necrosis factor-alpha (TNF-α) drugs, which are a class of biological DMARDs (bDMARDs), have been efficaciously employed in the treatment of RA in recent times Adalimumab, a TNF inhibitor, has demonstrated significant efficacy in reducing disease symptoms and halting disease progression in patients with RA. However, its use is associated with major side effects and high costs. In addition,

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Publication Date
Fri Jul 24 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of some salivary enzymes levels in type 2 diabetic patients with chronic periodontitis (Clinical and biochemical study)
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Background: Diabetic patients have been reported to be more susceptible to gingivitis and periodontitis than healthy subjects. Many intracellular enzymes like (alkaline phosphatase- (ALP), aspartate aminotransferase- (AST) and alanine aminotransferase- (ALT) that are released outside cells into the gingival crevicular fluid (GCF) and saliva after destruction of periodontal tissue during periodontitis. This study was conducted to determine the periodontal health status and the levels of salivary enzymes (ALP, AST and ALT) of the study and control groups and to correlate the levels of these enzymes with clinical periodontal parameters in each study group. Subjects, Materials and Methods: One hundred subjects were enrolled in the study, with a

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Publication Date
Thu Jun 30 2011
Journal Name
Al-kindy College Medical Journal
Prevalence of clinically significant Hepatopulmonary Syndrome among Patients with Chronic Liver Disease and Portal Hypertension
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Background : The hepatopulmonary syndrome (HPS) is defined as the triad of liver disease, arterial deoxygenation, and pulmonary vascular dilatation. The reported prevalence of HPS in cirrhotic patients varies between 5% -17.5%.Objective : To estimate the prevalence of hepatopulmonary syndrome among patients with chronic liver disease and portal hypertension and to study the correlation between HPS and the severity of liver disease.Patients and methods : Thirty patients were studied for the presence of HPS using transthoracic contrast echocardiography for detection of pulmonary vasodilatation. Arterial oxygen saturation (SaO2) was determined in erect and supine position using a pulse oximeter , (SaO2 ≤ 92 % in supine position and/or a d

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Publication Date
Mon Jul 03 2017
Journal Name
University Of Sheffield
The interaction of Porphyromonas gingivalis with host epithelial cells and its relevance to periodontal disease
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Periodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p

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