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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 Jan 01 2023
Journal Name
Phyton
Toxic and Antifeedant Effects of Different Pesticidal Plant Extracts against Beet Armyworm (&lt;i&gt;Spodoptera exigua&lt;/i&gt;)
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The beet armyworm (BAW), Spodoptera exigua (Lepidoptera: Noctuidae) is a highly destructive pest of vegetables and field crops. Management of beet armyworm primarily relies on synthetic pesticides, which is threatening the beneficial community and environment. Most importantly, the BAW developed resistance to synthetic pesticides with making it difficult to manage. Therefore, alternative and environment-friendly pest management tactics are urgently required. The use of pesticidal plant extracts provides an effective way for a sustainable pest management program. To evaluate the use of pesticidal plant extracts against BAW, we selected six plant species (Lantana camara, Aloe vera, Azadirachta indica, Cymbopogon citratus, Nicotiana tabacum ,

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Publication Date
Wed Apr 01 2020
Journal Name
Canadian Journal Of Physics
Influence of the variation in the Hubbard parameter (<i>U</i>) on activation energies of CeO<sub>2</sub>-catalysed reactions
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Accurate description of thermodynamic, structural, and electronic properties for bulk and surfaces of ceria (CeO2) necessitates the inclusion of the Hubbard parameter (U) in the density functional theory (DFT) calculations to precisely account for the strongly correlated 4f electrons. Such treatment is a daunting task when attempting to draw a potential energy surface for CeO2-catalyzed reaction. This is due to the inconsistent change in thermo-kinetics parameters of the reaction in reference to the variation in the U values. As an illustrative example, we investigate herein the discrepancy in activation and reaction energies for steps underlying the partial and full hydrogenation of acetyl

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Publication Date
Sun Mar 02 2014
Journal Name
Baghdad Science Journal
Kinetic and thermodynamic Studies Of Alanine Aminopeptidase(AAP) Isoenzymes I,II Partially Purified From Patient's Urine With Urinary Tract Cancer
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The activity of Alanine aminopeptidase( AAP ) was measured in the urine of healthy and urinary tract cancer patients , the results showed higher activity of (AAP) in patients compared to healthy . AAP was Purified from the urine of healthy and patients with urinary tract cancer by dialysis and gel filtration (Sephadex G – 50) and two isoenzymes of (AAP) were separated from urine by using ion-exchang resin (DEAE – Sephadex A – 50 ) in previous study. The kinetics studies showed that both isoenzymes I and II obeyed Michaelis – Menton equation . with optimal concentration of alanine-4-nitroanilide as substrate for isoenzymes I and II which was (2 x 10-3 mol/L ). The two isoenzymes obeyed Arrhenius equation up two 37° C and t

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Publication Date
Sun Oct 01 2023
Journal Name
History Of Medicine
Correlation of Afamin with oxidative stress in GDM
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It is becoming a public health issue to predict which expectant women will develop gestational diabetes mellitus (GDM). The goal of this case control research is to investigate the role of maternal oxidative stress levels in the first, second, and third trimesters, as well as other factors, in the development of gestational diabetes mellitus (GDM). Methods Between October and December 2021, 142 women participated in this research. The 101 GDM patients were split into three groups based on their gestation (T1, T2, and T3), and 41 healthy pregnant women were chosen as the comparison group. TAS and TOS levels of oxidative stress and XO were calculated using a Spectrophotometer for colorimetric techniques; fasting and random sugar levels, as

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Publication Date
Sun Feb 02 2025
Journal Name
Engineering, Technology &amp; Applied Science Research
A Numerical Study of Concrete Composite Circular Columns encased with GFRP I-Section using the Finite Element Method
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This paper presents ABAQUS simulations of fully encased composite columns, aiming to examine the behavior of a composite column system under different load conditions, namely concentric, eccentric with 25 mm eccentricity, and flexural loading. The numerical results are validated with the experimental results obtained for columns subjected to static loads. A new loading condition with a 50 mm eccentricity is simulated to obtain additional data points for constructing the interaction diagram of load-moment curves, in an attempt to investigate the load-moment behavior for a reference column with a steel I-section and a column with a GFRP I-section. The result comparison shows that the experimental data align closely with the simulation

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Publication Date
Tue May 01 2018
Journal Name
The Journal Of Immunology
Resveratrol treatment alters lung microbiome in the murine ovalbumin-induced asthma model by increasing mucus-degrading <i>Akkermansia muciniphila</i>.
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Abstract<p>Asthma is a chronic inflammatory disease that involves the narrowing of the lung airways and excessive mucus production. Resveratrol (RES), a polyphenolic stilbene, is known to control asthmatic attacks via different molecular mechanisms. However, no studies have examined the effect of resveratrol on the microbiome in the ovalbumin (OVA)-induced asthma mouse model. In this study, we induced asthma in BALB/c mice by injecting OVA followed by 7 days treatment with RES. Plethysmography showed that the expiratory resistance in the lung tissue was significantly reduced in the RES treated group, while mean volume, peak expiratory flow, and frequency of respiration was increased. Histopathol</p> ... Show More
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Publication Date
Wed Dec 04 2024
Journal Name
F1000research
Correlation between plasma homocysteine and ischemic heart disease in young Adults
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Background Cardiovascular disease (CVD) is a leading cause of death worldwide. Ischemic heart disease is a major cause of morbidity and mortality. Lack of blood supply to the brain can cause tissue death if any of the cerebral veins, carotid arteries, or vertebral arteries are blocked. An ischemic stroke describes this type of event. One of the byproducts of methionine metabolism, the demethylation of methionine, is homocysteine, an amino acid that contains sulfur. During myocardial ischemia, the plasma level of homocysteine (Hcy) increases and plays a role in many methylation processes. Hyperhomocysteinemia has only recently been recognized as a major contributor to the increased risk of cardiovascular disease (CVD) owing to its eff

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Publication Date
Sat Oct 12 2024
Journal Name
Biorxiv
The thermotolerant Arabian killifish,<i>Aphanius dispar</i>, as a novel infection model for human fungal pathogens
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Abstract<p><italic>Candida albicans</italic>: a fungal pathogen, can cause superficial and fatal infections in humans. An important virulence factor in<italic>C. albicans</italic>dissemination is the transformation from yeast to an invasive hyphal form, which is favoured at human body temperature. Zebrafish, a useful model for studying<italic>C. albicans</italic>infections, cannot survive at 37°C. Arabian killifish,<italic>Aphanius dispar</italic>, an emerging teleost model can tolerate temperatures up to 40 °C for up to 12 days (independent feeding time) allowing for longer analysis compared to zebrafish. This study introduces<italic>A. dispar</italic>as a th</p> ... Show More
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Publication Date
Sat Apr 19 2025
Journal Name
Plos One
Early Detection of Autism Spectrum Disorder in Children Using Different Machine Learning Algorithms
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Abstract<p>Autism spectrum disorder(ASD) is a neurological condition marked by impaired communication abilities, social detachment, and repetitive behaviors in individuals. Global health organization facing difficulties in establishing an effective ASD diagnostic system that facilitates precise analysis and early autism prediction. It is a scientific issue that necessitates resolution. This research presents an approach for the early prediction of children with ASD utilizing significant variables through machine learning (ML) methods. Three stages comprise the suggested technique. First, a 1250-case ASD dataset was identified and preprocessed. Five extremely effective traits with high Pearson c</p> ... Show More
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Publication Date
Tue Mar 03 2020
Journal Name
Molecular Biology Reports
Correlation of GSTP1 gene variants of male Iraqi waterpipe (Hookah) tobacco smokers and the risk of lung cancer
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Glutathione-S-transferases (GSTs) play a role in the detoxification of environmental chemicals and mutagens, such as those inhaled during tobacco smoking. There have been conflicting reports concerning GST polymorphisms as risk factors in the development of lung cancer. No studies focused on Arab populations exposed to Waterpipe (WP) tobacco smoke have been undertaken. Here Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and gene sequenc- ing were applied to analyze allelic variations in GSTP1-rs1695 and -rs1138272 amongst 123 lung cancer patients and 129 controls. The data suggest that WP smoking raised the risk of lung cancer more than three-fold (OR 3.6; 95% CI 2.1–6.0; p < 0.0001). However, there was no s

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