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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 Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Some Clinical Features of Trichomoniasis Associated with Pelvic Organs Tenderness in Sample of Iraqi women
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Publication Date
Wed Jun 01 2022
Journal Name
Jordan Journal Of Biological Sciences
Comparison of the Folate and Homocysteine Levels with A80G -RFC1 Gene Polymorphism between the Sample of Iraqi Children with and without Down Syndrome
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Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.

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Publication Date
Sun Aug 01 2021
Journal Name
Journal Of Education And Science
Evaluation of Salivary Alpha-Amylase level in Iraqi children with positive family history of hypertension
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This study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity betwe

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Publication Date
Thu Mar 03 2022
Journal Name
Rawal Medical Journal
Functional outcome of closed reduction of supracondylar humerus fracture with cross Kirschner wire in children
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Objective: To evaluate the functional outcome of percutaneous cross two K wires fixation for Gartland types II and III fractures of humerus. Methodology: This prospective study included80 patients with supracondylar humeral fracture, who underwent closed reduction and fixation by two crossed Kirschner wires. We included children with age < 15 years with closed fractures with Gartland types II and III, while the patient with vascular injury, open, irreducible fractures were excluded. The patients were following up for 6 months and assessed functionally by Flynn’s criteria. Results: The mean age of patients was 8.1 years. Trauma while child playing was the main mechanism of injury in 43 (59.8%) children and 46 (57.5%) fractures were of the

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Publication Date
Wed Oct 07 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
CA 27-29: A Valuable Marker for Breast Cancer Management in Correlation with CA 15-3
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Publication Date
Sun Jan 01 2023
Journal Name
International Conference Of Computational Methods In Sciences And Engineering Iccmse 2021
Bipolar intuitionistic (𝕴, 𝓛)-fuzzy medial-ideals(bi-intstic (𝕴, 𝓛) fuzzy Med-I)
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Publication Date
Tue Jan 01 2019
Journal Name
Baghdad Science Journal
Hazard Rate Estimation Using Varying Kernel Function for Censored Data Type I Article Sidebar
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n this research, several estimators concerning the estimation are introduced. These estimators are closely related to the hazard function by using one of the nonparametric methods namely the kernel function for censored data type with varying bandwidth and kernel boundary. Two types of bandwidth are used: local bandwidth and global bandwidth. Moreover, four types of boundary kernel are used namely: Rectangle, Epanechnikov, Biquadratic and Triquadratic and the proposed function was employed with all kernel functions. Two different simulation techniques are also used for two experiments to compare these estimators. In most of the cases, the results have proved that the local bandwidth is the best for all the types of the kernel boundary func

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Publication Date
Sat Jan 01 2005
Journal Name
Journal Of The College Of Languages (jcl)
Etude de I' espace dans un extrait de Les sequestres d' Altona de Jean
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Etude de I' espace dans un extrait de Les sequestres d' Altona de Jean

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Publication Date
Thu Jun 02 2016
Journal Name
American Scientific Research Journal For Engineering, Technology, And Sciences
Girder Load Share for the Curved I-Girder Bridge Subjected to the Point Load
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The objective of this research is to study experimentally and theoretically the girder vertical load share of the curved I-Girder bridges subjected to the point load in addition to the self-weigh and supper imposed dead loads. The experimental program consist of manufacturing and testing the five simply supported bridge models was scaled down by (1/10) from a prototype of 30m central span. The models carriageway central radii are 30 m, 15m or 10m. The girder spacing of the first two models is 175 mm with an overall carriageway width of 650mm. The girder spacing of the other three bridge models is 200mm with the overall carriageway width of 700 mm. The overall depth of the composite section was 164 mm. To investigate the effect of live load

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Publication Date
Sat Jun 02 2018
Journal Name
American Academic Scientific Research Journal For Engineering, Technology, And Sciences
Girder Load Share for the Curved I-Girder Bridge Subjected to the Point Load
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