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.
Warfarin dosing is challenging due to a multitude of factors affecting its pharmacokinetics (PK) and pharmacodynamics (PD). A novel personalised dosing algorithm predicated on a warfarin PK/PD model and incorporating CYP2C9 and VKORC1 genotype information has been developed for children. The present prospective, observational study aimed to compare the model with conventional weight-based dosing. The study involved two groups of children post-cardiac surgery: Group 1 were warfarin naïve, in whom loading and maintenance doses were estimated using the model over a 6-month duration and compared to historical case-matched controls. Group 2 were already established on maintenance therapy a
Start your abstract here the objective of this paper is to study the dynamical behaviour of an eco-epidemiological system. A prey-predator model involving infectious disease with refuge for prey population only, the (SI_) infectious disease is transmitted directly, within the prey species from external sources of the environment as well as, through direct contact between susceptible and infected individuals. Linear type of incidence rate is used to describe the transmission of infectious disease. While Holling type II of functional responses are adopted to describe the predation process of the susceptible and infected predator respectively. This model is represented mathematically by
In this paper, we used four classification methods to classify objects and compareamong these methods, these are K Nearest Neighbor's (KNN), Stochastic Gradient Descentlearning (SGD), Logistic Regression Algorithm(LR), and Multi-Layer Perceptron (MLP). Weused MCOCO dataset for classification and detection the objects, these dataset image wererandomly divided into training and testing datasets at a ratio of 7:3, respectively. In randomlyselect training and testing dataset images, converted the color images to the gray level, thenenhancement these gray images using the histogram equalization method, resize (20 x 20) fordataset image. Principal component analysis (PCA) was used for feature extraction, andfinally apply four classification metho
... Show MoreThis paper presents a method to classify colored textural images of skin tissues. Since medical images havehighly heterogeneity, the development of reliable skin-cancer detection process is difficult, and a mono fractaldimension is not sufficient to classify images of this nature. A multifractal-based feature vectors are suggested hereas an alternative and more effective tool. At the same time multiple color channels are used to get more descriptivefeatures.Two multifractal based set of features are suggested here. The first set measures the local roughness property, whilethe second set measure the local contrast property.A combination of all the extracted features from the three colormodels gives a highest classification accuracy with 99.4
... Show MoreBackground: The miswak is a teeth cleaning twig made from a twig of the Salvadora persica tree (known as arak in Arabic).A traditional alternative to the modern toothbrush, it has a long, well-documented history and is reputed for its medicinal benefits. It also features prominently in Islamic hygienical jurisprudence. Materials and methods: Twenty maxillary first premolars were treated with the selected solutions which included siwak water extract (5%, 10%) and sodium fluoride 0.05% for 2minutes once daily for 20 days interval, deionized water was used as control negative. Then the concentration of the dissolved calcium ion in the etching solution of 2N HCL was measured. Results: The least amount of the dissolved calcium ion was registere
... Show MoreBackground: The aim of this study was to evaluate and compare the apical microleakage around retrograde cavities prepared with ultrasonic technique and filled with (Biodentineâ„¢) Materials and methods: 40 extracted single rooted human permanent maxillary teeth with mature apices were selected. The roots were prepared chemo-mechanically using k-files with crown-down technique and then obturated with lateral condensation gutta-percha technique. Teeth were divided into four main groups according to the cavity preparation method either manual or ultrasonic technique: Group A (n=10): A class I retrograde cavity at root end was prepared with traditional handpeice equipped and placement of Biodentine with manual condensation. Group B (n=10):
... Show MoreBackground: The aim of this study was to evaluate and compare the apical microleakage around retrograde cavities prepared with ultrasonic technique and filled with (Biodentineâ„¢) Materials and methods: 40 extracted single rooted human permanent maxillary teeth with mature apices were selected. The roots were prepared chemo-mechanically using k-files with crown-down technique and then obturated with lateral condensation gutta-percha technique. Teeth were divided into four main groups according to the cavity preparation method either manual or ultrasonic technique: Group A (n=10): A class I retrograde cavity at root end was prepared with traditional handpeice equipped and placement of Biodentine with manual condensation. Group B (n=10):
... Show MoreIn this study, generation of elliptical gears with different teeth profiles of crowned involute, double circular arc (DCA), and combined (crowned involute with DCA) has been developed. The resulting mathematical equations have been computerized and feed to CNC end mill machine to manufacture elliptical gear models with different profiles. These models are investigated in plane polariscope to show the resulting stresses under certain load. Comparison of photo-elastic stress results shows that combined elliptical gears with DCA side as a loaded side have a minimum resulting contact stress with a reduction percentage of 40% compare with contact stresses in counterpart elliptical gear of involute profile (which is commonly u
... Show MoreBackground: Oxidative stress is a deleterious process that can be an important mediator of damage to cell structures and consequently various disease states. Exposure to free radicals from a variety of sources has led organisms to produce a series of defense mechanisms. The antioxidant ceruloplasmin is a copper-containing ferroxidase that can oxidize ferrous iron (Fe2+) to its nontoxic ferric (Fe3+) form. Ferrous iron (Fe2+) is extremely damaging because of its ability to generate toxic free radicals. Oral lichen planus (OLP) is a chronic inflammatory oral mucosal disease of unknown etiology. Previous studies reported that reactive oxygen species may be involved in the pathogenesis of lichen planus. The aim of this study was to estimate the
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