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.
The use of Bayesian approach has the promise of features indicative of regression analysis model classification tree to take advantage of the above information by, and ensemble trees for explanatory variables are all together and at every stage on the other. In addition to obtaining the subsequent information at each node in the construction of these classification tree. Although bayesian estimates is generally accurate, but it seems that the logistic model is still a good competitor in the field of binary responses through its flexibility and mathematical representation. So is the use of three research methods data processing is carried out, namely: logistic model, and model classification regression tree, and bayesian regression tree mode
... Show MoreThe expression of the Proprotein Convertase Subtilisin/Kexin Type 9 gene (PCSK9) is inextricably related to lipid levels and a risk of atherosclerotic coronary artery disease (ASCAD). The present study aims to measure the quantity of PCSK9 gene expression and the effect of methylation on its expression level taking part in the pathogenesis of acute coronary artery disorder.
A current study included 150 subjects from the Iraqi population, 100 ASCAD patients and 50 healthy controls. The concentration of PCSK9 in each serum sample was determined by the ELISA technique, the expression levels of the PCSK9 gene in whole blood were estimated by RT-qPCR – Quantitative Reverse Transcription PCR method, and DNA
... Show MoreIn this study, the effect of glass fiber reinforced polymer (GFRP) section and compressive strength of concrete in composite beams under static and low velocity impact loads was examined. Modeling was performed and the obtained results were compared with the test results and their compatibility was evaluated. Experimental tests of four composite beams were carried out, where two of them are control specimen with 20 MPa compressive strength of concrete deck slab and 50 MPa for other. Bending characteristics were affected by the strength of concrete under impact loading case, as it increased maximum impact force and damping time at a ratio of 59% and reduced the damping ratio by 47% compared to the reference hybrid beam. Under stat
... Show MoreNear-ideal p-CdS/n-Si heterojunction band edge lineup has been investigated for the first time with aid of I-V and C-V measurements. The heterojunction was manufactured by deposition of CdS films prepared by chemical spray pyrolysis technique (CSP) on monocrystalline n-type silicon. The experimental data of the conduction band offset Ec and valence band offset Ec were compared with theoretical values. The band offset Ec=530meV and Ev=770meV obtained at 300K. The energy band diagram of p-CdS/n-Si HJ was constructed. C-V measurements depict that the junction was an abrupt type and the built-in voltage was determined from C-2-V plot
The treatment of migraine headache targets the neurovascular mechanism and involves the use of serotonin receptor antagonists. Some of these drugs are used for the treatment of acute attacks; while others are effective as prophylactic measures to decrease the duration and frequency of attacks. Pizotifen, a 5-HTA antagonist, is one of the prophylactic drugs for which the clinical use resulted in low outcomes in reducing migraine symptoms. Melatonin, a serotonin derived neurohormone, was reported to exert many functions like sleep induction, anti-inflammatory, neurovascular regulation, cytoprotection and modulation of neurotransmitter release. In the view of the involvement of serotonin in the pathophysiology of migraine a
... Show MoreLinear discriminant analysis and logistic regression are the most widely used in multivariate statistical methods for analysis of data with categorical outcome variables .Both of them are appropriate for the development of linear classification models .linear discriminant analysis has been that the data of explanatory variables must be distributed multivariate normal distribution. While logistic regression no assumptions on the distribution of the explanatory data. Hence ,It is assumed that logistic regression is the more flexible and more robust method in case of violations of these assumptions.
In this paper we have been focus for the comparison between three forms for classification data belongs
... Show MoreThe relation between anemia and inflammatory immune response has lately had much attention. This research was conducted from October 2018 until April 2019, including (110) children below 12 years from both gender in some Hospitals, Primary Health care centers, Public Primary Schools and Kindergarten in Baghdad, Iraq. The objective of this study is to determine the possible correlation between iron deficiency anemia and inflammatory immune response among children infected with Entamoeba histolytica or Giardia lamblia. Blood samples were taken from all groups to measure hemoglobin level, serum iron, total iron binding capacity (TIBC), mean corpuscular volume (MCV), and mean corpuscular hemoglobin concentration
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