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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
Sun Feb 08 2009
Journal Name
Ibn Al- Haitham J. For Pure & Appl. Sci.
Evaluation of Dot. ELISA test for Diagnosis Visceral Leishmaniasis in Infected Children
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Evaluation of Dot. ELISA test for Diagnosis Visceral Leishmaniasis in Infected Children

Publication Date
Fri Mar 06 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Prevalence of Pacifier Sucking Habit and Its Effect on Occlusion in Children Aged 1-5 Years in Baghdad City
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Background: Non-nutritive sucking habits are common in infants and toddlers. One of the most common non-nutritive sucking habits is pacifier; its prevalence varies from one population to another. This study was conducted to determine the prevalence of pacifier sucking habit among children aged 1-5 years old in Baghdad city and to assess its effect on the occlusion of primary dentition concerning posterior crossbite. Materials and methods: The study was carried out among 1222 children aged 1-5 years old, from which 50 children with continues pacifier sucking habit were chosen to be the study group, compared to 50 children without any sucking habit (control group) matching the study group in age and gender. Children were examined clinically t

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Publication Date
Sat Dec 31 2016
Journal Name
Al-kindy College Medical Journal
Diagnostic Value Of Post Exercise Systolic Blood Pressure Response In Ischemic Heart Disease
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 Background: The normal decline in systolic blood pressure during recovery phase of treadmill exercise dose not occur in most patients with coronary artery disease, in others recovery values systolic blood pressure may even exceed the peak exercise value. Objectives: Treadmill exercise test parameters indicating the presence and extent of coronary artery disease have traditionally included such as exercise duration, blood pressure and ST-segment response to exercise. The three –minute systolic blood pressure ratio is another important indicator of presence and significance of coronary artery disease is useful and obtainable measure that can be applied in all patients who are undergoing stress testing for evaluation of suspected is

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Publication Date
Fri Mar 06 2026
Journal Name
Al Kut Journal Of Economics And Administrative Sciences
Use of the Bootstrap in the logistic regression model for Breast cancer disease
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The logistic regression model is one of the oldest and most common of the regression models, and it is known as one of the statistical methods used to describe and estimate the relationship between a dependent random variable and explanatory random variables. Several methods are used to estimate this model, including the bootstrap method, which is one of the estimation methods that depend on the principle of sampling with return, and is represented by a sample reshaping that includes (n) of the elements drawn by randomly returning from (N) from the original data, It is a computational method used to determine the measure of accuracy to estimate the statistics, and for this reason, this method was used to find more accurate estimates. The ma

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Publication Date
Fri Mar 06 2026
Journal Name
Journal Of Systems Science And Mathematical Sciences
SCREENING TESTS FOR DISEASE RISK HAPLOTYPE SEGMENTS IN GENOME BY USE OF PERMUTATION
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The haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.Such an analysis typically involves a list of unphased multiple-locus genotypes with potentially sparse frequencies in cases and controls.It starts with inferring haplotypes from genotypes followed by a haplotype co-classification and marginal screening for disease-associated haplotypes.Unfortunately,phasing uncertainty may have a strong effects on the haplotype co-classification and therefore on the accuracy of predicting risk haplotypes.Here,to address the issue,we propose an alternative approach:In Stage 1,we select potential risk genotypes inste

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Publication Date
Thu Mar 25 2021
Journal Name
International Journal For Research In Applied Sciences And Biotechnology
Review Article: Defective Genes Cause Disease
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Variation in DNA, and genes to a lesser or greater extent, can play an important role in most diseases; that is because this variation in will reflect and affect the function of DNA, and genes (combined genes and DNA or separately). This can be affected by environment, life style, as well as the inheriting from parents and previous generations. All these factors can contribute in human diseases. There are different alterations in genes, like imbalance and inequality in chromosomes, disorder in gene (deficiency in gene, which could be complex or single disorder), and cancer. In the last decades, scientists were focus on medicine and genetics; they pay an extensive attention to reach better understanding about diseases and their cause

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Efficacy, safety and Cardiovascular Disease Risk Lowering Ability of ACE Inhibitors, B-Blockers and Combination Antihypertensive Drug Regimes in Iraq
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Hypertension is a major health problem throughout the world because of its high prevalence and its association with increased risk of cardiovascular diseases. It is defined as systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. The aim of this study was to compare the efficacy, safety and cardiovascular disease risk lowering ability, of three antihypertensive drug regimens.

A retrospective study was carried out on 66 hypertensive patients, divided in to three groups based on their antihypertensive drug regimens (ACE inhibitors, β-blockers treated and combination antihypertensive therapy, the combination therapy consist of two or more of the following antihypertensive drugs ACE inhibitor di

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Publication Date
Fri Feb 01 2019
Journal Name
Journal Of The College Of Education For Women
Conservation of Concept among Children: Semantic Study
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Conservation of Concept among Children: Semantic Study

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Publication Date
Wed Jun 24 2020
Journal Name
Neuroimaging - Neurobiology, Multimodal And Network Applications
Electroencephalogram Based Biomarkers for Detection of Alzheimer’s Disease
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Alzheimer’s disease (AD) is an age-related progressive and neurodegenerative disorder, which is characterized by loss of memory and cognitive decline. It is the main cause of disability among older people. The rapid increase in the number of people living with AD and other forms of dementia due to the aging population represents a major challenge to health and social care systems worldwide. Degeneration of brain cells due to AD starts many years before the clinical manifestations become clear. Early diagnosis of AD will contribute to the development of effective treatments that could slow, stop, or prevent significant cognitive decline. Consequently, early diagnosis of AD may also be valuable in detecting patients with dementia who have n

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Publication Date
Mon Jan 01 2018
Journal Name
Front Public Health
Association of Cytochrome CYP1A1 Gene Polymorphisms and Tobacco Smoking with the Risk of Breast Cancer in Women from Iraq
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Background: CYP1A1 gene polymorphisms and tobacco smoking are among several risk factors for various types of cancers, but their influence on breast cancer remains controversial. We analyzed the possible association of CYP1A1 gene polymorphisms and tobacco smoking-related breast cancer in women from Iraq. Materials and methods: In this case-control study, gene polymorphism of CYP1A1 gene (CYP1A1m1, T6235C and CYP1A1m2, A4889G) of 199 histologically verified breast cancer patients' and 160 cancer-free control women's specimens were performed by using PCR-based restriction fragment length polymorphism. Results: Three genotype frequencies (TT, TC, and CC) of CYP1A1m1T/C appeared in 16.1, 29.6, and 54.3% of women with breast cancer, respectiv

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