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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
Tue Sep 01 2020
Journal Name
Baghdad Science Journal
Modified Weighted Pareto Distribution Type I (MWPDTI)
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In this paper, the Azzallini’s method used to find a weighted distribution derived from the standard Pareto distribution of type I (SPDTI) by inserting the shape parameter (θ) resulting from the above method to cover the period (0, 1] which was neglected by the standard distribution. Thus, the proposed distribution is a modification to the Pareto distribution of the first type, where the probability of the random variable lies within the period  The properties of the modified weighted Pareto distribution of the type I (MWPDTI) as the probability density function ,cumulative distribution function, Reliability function , Moment and  the hazard function are found. The behaviour of probability density function for MWPDTI distrib

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Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For
Relation Study between Chromogranin a and Other Clinical Biomarker in Iraqi Children with Growth Hormone Deficiency Undergo Treated Via Recombinant Growth Hormone
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Growth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children

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Publication Date
Fri Sep 23 2016
Journal Name
Spie Proceedings
Quantifying charge trapping and molecular doping in organic p-i-n diodes
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Publication Date
Fri Mar 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Comparison of Practical Investigations for CO Emissions Emitted From Single Cylinder S. I. Engine Fueled With Different Kinds of Hydrocarbon Fuels and Hydrogen
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Liquefied petroleum gas (LPG), Natural gas (NG) and hydrogen were all used to operate spark ignition internal combustion engine Ricardo E6. A comparison of CO emissions emitted from each case, with emissions emitted from engine fueled with gasoline as a fuel is conducted.

The study was accomplished when engine operated at HUCR for gasoline n(8:1), was compared with its operation at HUCR for each fuel. Compression ratio, equivalence ratio and spark timing were studied at constant speed 1500 rpm.

CO concentrations were little at lean ratios; it appeared to be effected a little with equivalence ratio in this side, at rich side its values became higher, and it appeared to be effected by equivalence ratio highly, the results s

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Publication Date
Fri Dec 22 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Clinical Characteristics and Therapeutic Management of Osteogenesis Imperfecta in Iraqi Children
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Background: Osteogenesis imperfecta (OI) is a rare congenital condition that results in bone fragility, recurrent fractures, and various extra-skeletal manifestations. Currently, intravenous bisphosphonate is the mainstay of medical treatment in OI. Objective: To identify the effect of current management strategies on Iraqi children diagnosed with OI. Methods: A retrospective study enrolled OI patients who were registered in Central Child Teaching Hospital, Baghdad, Iraq, from January 2015 to December 2022. We enrolled confirmed OI cases (either clinically and/or radiologically) who received cyclic pamidronate therapy for at least 3 cycles. They neither received other types of bisphosphonates nor underwent surgical intervention. Res

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Publication Date
Thu Sep 19 2024
Journal Name
Irish Journal Of Medical Science (1971 -)
Correlation between clinical and MRI findings in disc herniation in the lumbosacral region
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Publication Date
Wed Mar 31 2021
Journal Name
Indones. J. Chem.,
Synthesis and DFT Study of the Complexation of Schiff Base Derived Curcumin and L-Tyrosine with Al(III), Ag(I), and Pb(II) Metal Ions
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The multi-dentate Schiff base ligand (H2L), where H2L=2,2'-(((1,3,5,6)-1-(3-((l1-oxidaneyl)-l5-methyl)-4-hydroxyphenyl)-7-(4-hydroxy-3-methoxyphenyl)hepta-1,6-di ene-3,5-diylidene)bis(azaneylylidene))bis(3-(4-hydroxyphenyl)propanoic acid), has been prepared from curcumin and L- Tyrosine amino acid. The synthesized Schiff base ligand (H2L) and the second ligand 1,10-phenanthroline (phen) are used to prepare the new complexes [Al(L)(phen)]Cl, K[Ag(L)(phen)] and [Pb(L)(phen)]. The synthesized compounds are characterized by magnetic susceptibility measurements, micro elemental analysis (C.H.N), mass spectrometry, molar conductance, FT-infrared, UV-visible, atomic absorption (AA), 13C-NMR, and 1H-NMR spectral studies. The characterization of the

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Publication Date
Fri May 15 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Cephalometric Study of Iraqi Adult Subjects with Cl I and Cl III Skeletal Relationships and Their Effects on Masseter Muscle Thickness by Using Ultrasonography
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Background: Masseter muscle is one of the most obvious muscles of mastication and considered as one indicator of jaw muscle activity. It has a major influence on the transverse growth of the midface and the vertical growth of the mandible. This study undertaken to determine the role of cephalometric analysis for discrimination between Cl I and Cl III skeletal relationships, determine the role of ultrasonography in determination of masseter muscle thickness, compare masseter muscle thickness between Cl I and Cl III skeletal relationships, and determine the effect of gender on masseter muscle thickness. Material and Method: The sample of the current study consisted of 70 Iraqi subjects 40 males and 30 females with age ranging 18-25 years. The

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Publication Date
Sun Jan 01 2017
Journal Name
Food And Nutrition Sciences
Optimization of Culture Conditions to Produce Phytase from &amp;lt;i&amp;gt;Aspergillus tubingensis SKA&amp;lt;/i&amp;gt;
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The effects of nutrients and physical conditions on phytase production were investigated with a recently isolated strain of Aspergillus tubingensis SKA under solid state fermentation on wheat bran. The nutrient factors investigated included carbon source, nitrogen source, phosphate source and concentration, metal ions (salts) and the physical parameters investigated included inoculum size, pH, temperature and fermentation duration. Our investigations revealed that optimal productivity of phytase was achieved using wheat bran supplemented with: 1.5% glucose. 0.5% (NH4)2SO4, 0.1% sodium phytate. Additionally, optimal physical conditions were 1 × 105 spore/g substrate, initial pH of 5.0, temperature of fermentation 30˚C and fermentation dura

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Publication Date
Wed May 10 2017
Journal Name
Parasitology
The antifungal Aureobasidin A and an analogue are active against the protozoan parasite<i>Toxoplasma gondii</i>but do not inhibit sphingolipid biosynthesis
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Toxoplasma gondiiis an obligate intracellular protozoan parasite of the phylum Apicomplexa, and toxoplasmosis is an important disease of both humans and economically important animals. With a limited array of drugs available there is a need to identify new therapeutic compounds. Aureobasidin A (AbA) is an antifungal that targets the essential inositol phosphorylceramide (IPC, sphingolipid) synthase in pathogenic fungi. This natural cyclic depsipeptide also inhibitsToxoplasmaproliforation, with the protozoan IPC synthase orthologue proposed as the target. The data presented here show that neither AbA nor an analogue (Compound 20), target the protozoan IPC synthase orthologue or total parasite sphingol

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