Inherited metabolic disorders (IMDs) are a diverse group of hereditary abnormalities that leads to a defect in metabolic pathway. Its diagnosis has been transformed by the innovations of molecular genetics and computational biology. Conventionally, diagnosis of IMDs is dependent on clinical findings and biochemical tests. Yet, these methods are limited due to a heterogeneity of such disorders and a large number of genes involved. The main objective of this review is to highlight the role of next-generation sequencing (NGS), including targeted gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS), in the diagnosis of IMDs and providing reliable information in identifying genetic causes, and to explore the integrated analysis of several molecular layers such as genomics, transcriptomics, proteomics, metabolomics, and epigenetics. Targeted mass spectrometry and untargeted metabolomics methods are essential approaches for screening and identifying the metabolic patterns that act as a diagnosis biomarker to confirm the biochemical phenotypes associated with IMDs. Moreover, a new diagnostic model has been developed from the combination data of transcriptomics and proteomics to determine whether a gene mutation leads to a protein's dysfunction or not. The review concludes that the IMDs diagnosis should be lied in a fully integrated between molecular genetics techniques with multi-omics pipeline enhanced by artificial intelligence (AI) and machine learning (ML), which will provide a more rapid, accurate, and accessible path to diagnosis and, ultimately, more effective treatment.
In this study, the effect of fire flame on the punching shear strength of steel fiber reinforced concrete flat plates was experimentally investigated using nine half-scale specimens with dimensions of 1500×1500 mm and a total thickness of 100 mm. The main investigated variables comprised the steel fiber volume fraction 0, 1, and 1.5% and the burning steady state temperature 500 and 600 °C. The specimens were divided into three groups, each group consists of three specimens. The specimens in the first group were tested with no fire effect to be the reference specimens, while the others of the second and third groups were tested after being exposed to fire-flame effect. The adopted characteristics of the fire test were; (one hour) b
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Polynomial IIR digital filters play a crucial role in the process of image data compression. The main purpose of designing polynomial IIR digital filters of the integer parameters space and introduce efficient filters to compress image data using a singular value decomposition algorithm. The proposed work is designed to break down the complex topic into bite-sized pieces of image data compression through the lens of compression image data using Infinite Impulse Response Filters. The frequency response of the filters is measured using a real signal with an automated panoramic measuring system developed in the virtual instrument environment. The analysis of the output signal showed that there are no limit cycles with a maximum radius
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In every country in the world, there are a number of amputees who have been exposed to some accidents that led to the loss of their upper limbs. The aim of this study is to suggest a system for real-time classification of five classes of shoulder girdle motions for high-level upper limb amputees using a pattern recognition system. In the suggested system, the wavelet transform was utilized for feature extraction, and the extreme learning machine was used as a classifier. The system was tested on four intact-limbed subjects and one amputee, with eight channels involving five electromyography channels and three-axis accelerometer sensor. The study shows that the suggested pattern recognition system has the ability to classify the sho
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In this research, the electrical characteristics of glow discharge plasma were studied. Glow discharge plasma generated in a home-made DC magnetron sputtering system, and a DC-power supply of high voltage as input to the discharge electrodes were both utilized. The distance between two electrodes is 4cm. The gas used to produce plasma is argon gas which flows inside the chamber at a rate of 40 sccm. The influence of work function for different target materials (gold, copper, and silver), - 5cm in diameter and around 1mm thickness - different working pressures, and different applied voltages on electrical characteristics (discharge current, discharge potential, and Paschen’s curve) were studied. The results showed that the discharge cur
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Dam break is series phenomenon that can result in fatal consequences and loss of properties. Unfortunately, the observed consequences can only be available after the dam breaks. Therefore, it is important to anticipate what will happen prior to dam break to issue suitable warning and locate the possible risk areas. This study attempts to simulate the case of dam break in Blue Nile at Roseires dam and see its consequences downstream. Roseires dam lies at a distance of 630 km south of Khartoum, Sennar dam lies at about 260 km downstream of Roseires dam. In this study hydraulic model is developed based of Hydraulic Engineering Centre (HEC), River Analysis System (RAS), and HEC- RAS. The HEC-RAS based model is calibrated and validated usi
... Show MoreThe current study discusses one of the most important modern schools in art, and it studies its impact on contemporary Iraqi art, particularly in the art of pottery because of its association to the utilitarian function. However, this study demonstrated that pottery is a unique art, which has exceeded the limits of this function. In addition, pottery has a great role in changing the view and understanding of it. Therefore, this art assists in achieving the concepts, philosophies, and values among other fine arts branches.The most prominent issues in this article is dealing with reflections of the cubical arts on the Iraqi contemporary pottery art by through the works of the most prominent contemporary artists such as (Saad Shakir, SHania
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This study is aimed to Green-synthesize and characterize Al NPs from Clove (Syzygium aromaticum
L.) buds plant extract and to investigate their effect on isolated and characterized Salmonella enterica growth.
S. aromaticum buds aqueous extract was prepared from local market clove, then mixed with Aluminum nitrate
Al(NO3)3. 9 H2O, 99.9% in ¼ ratio for green-synthesizing of Al NPs. Color change was a primary confirmation
of Al NPs biosynthesis. The biosynthesized nanoparticles were identified and characterized by AFM, SEM,
EDX and UV–Visible spectrophotometer. AFM data recorded 122nm particles size and the surface roughness
RMs) of the pure S. aromaticum buds aqueous extract recorded 17.5nm particles s
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Docetaxel is an effective treatment approved for many types of cancers, but its effectiveness in clinical practice can be compromised by significant occurrence of adverse drug reactions. The aim of the current study was to measure the distribution of adverse drug reactions of docetaxel reported in Iraq and to assess the causality, severity, seriousness, preventability, expectedness and outcome of these adverse reactions. A retrospective study conducted on individual case safety reports from the Iraqi Pharmacovigilance Center / Ministry of Health. The study included 118 individual case safety report containing 236 adverse drug reactions.
Most of the adverse drug reactions were related to skin and subcutaneous tissue disorders(26.7%), f
Abstract
This work involves studying the effect of adding some selective organic component mixture on corrosion behavior of pure Al and its alloys in condensed synthetic automotive solution (CSAS) at room temperature. This mixture indicates the increasing of octane number in previous study and in this study show the increasing in corrosion resistance through the decreasing in corrosion rate values.
Electrochemical measurements were carried out by potentiostat at 3 mV/sec to estimate the corrosion parameters using Tafel extrapolation method, in addition to cyclic polarization test to know the pitting susceptibility of materials in tested medium.
The cathodic Tafel slope
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