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.
This study was done to find a cheap, available and ecofriendly materials that can remove eosin y dye from aqueous solutions by adsorption in this study, two adsorbent materials were used, the shells of fresh water clam (Cabicula fluminea) and walnut shells. To make a comparison between the two adsorbents, five experiments were conducted. First, the effects of the contact time, here the nut shell removed the dye quickly, while the C. flumina need more contact time to remove the dye. Second, the effects of adsorbent weight were examined. The nut shell was very promising and for all used adsorbent weight, the R% ranged from 94.87 to 99.29. However C. fluminea was less effective in removing the dye with R% ranged from 47.59 to 55.39. The thi
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Fiber Bragg Grating has many advantages where it can be used as a temperature sensor, pressure sensor or even as a refractive index sensor. Designing each of this fiber Bragg grating sensors should include some requirements. Fiber Bragg grating refractive index sensor is a very important application. In order to increase the sensing ability of fiber Bragg gratings, many methods were followed. In our proposed work, the fiber Bragg grating was written in a D-shaped optical fiber by using a phase mask method with KrFexcimer. The resultant fiber Bragg grating has a high reflectivity 99.99% with a Bragg wavelength of 1551.2 nm as a best result obtained from a phase mask with a grating period of 1057 nm. In this work it was found that the rota
... Show MoreIn this research various of 2,5-disubstituted 1,3,4-oxadiazole (Schiff base, oxo-thiazolidine , and other compounds) were synthesized from 2,5-di(4,4?- amino-1,3,4-oxadiazole ) which use quently synthesized from mixture of 4-amino benzoic acid and hydrazine in the presence of polyphosphorus acid. The synthesized compounds were characterized by using some Spectral data (UV, FT-IR, and 1H-NMR).
Heuristic approaches are traditionally applied to find the optimal size and optimal location of Flexible AC Transmission Systems (FACTS) devices in power systems. Genetic Algorithm (GA) technique has been applied to solve power engineering optimization problems giving better results than classical methods. This paper shows the application of GA for optimal sizing and allocation of a Static Compensator (STATCOM) in a power system. STATCOM devices used to increase transmission systems capacity and enhance voltage stability by regulate the voltages at its terminal by controlling the amount of reactive power injected into or absorbed from the power system. IEEE 5-bus standard system is used as an example to illustrate the te
... Show MoreAn experimental study is conducted on the utilization of the inlet ethanol injection technique in order to evaluate its impact on the performance of a two-shaft T200D mini-gas turbine engine. The maximum degradation recorded in power output was 32.8% at the climate temperature of 45oC. Nevertheless, at that temperature, adding ethanol with Eth/LPG ratio of 20% by volume brought an enhancement in power output of 19.2% compared to normal LPG run. SFC of the dual-fuel engine ranked a level of 22% higher than that with pure LPG consumption. The overall efficiency suffered a maximum reduction of 14.4% with Eth/LPG fuel ratio of 20%, but when the loading was raised beyond 70% of the engine full load; the efficiency of dual-fuel engi
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I wanted to address this topic because of creedal purposes importance,and its r le in regulating lives of individuals and society, and to talk about purposes of Almighty's saying:{It is easy for me},to simplify its meanings for general educated person to obtain the believe of the Creator’s power and his oneness.
Therefore,this research came,whichincludes:an introduction and topics, first :concept of creedal objectives and their divisions,second: creedal purposes in Almighty’s saying:{It is easy for me},and conclusion:in where most important results were included:
... Show MoreAbstract—The upper limb amputation exerts a significant burden on the amputee, limiting their ability to perform everyday activities, and degrading their quality of life. Amputee patients’ quality of life can be improved if they have natural control over their prosthetic hands. Among the biological signals, most commonly used to predict upper limb motor intentions, surface electromyography (sEMG), and axial acceleration sensor signals are essential components of shoulder-level upper limb prosthetic hand control systems. In this work, a pattern recognition system is proposed to create a plan for categorizing high-level upper limb prostheses in seven various types of shoulder girdle motions. Thus, combining seven feature groups, w
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Today, there are large amounts of geospatial data available on the web such as Google Map (GM), OpenStreetMap (OSM), Flickr service, Wikimapia and others. All of these services called open source geospatial data. Geospatial data from different sources often has variable accuracy due to different data collection methods; therefore data accuracy may not meet the user requirement in varying organization. This paper aims to develop a tool to assess the quality of GM data by comparing it with formal data such as spatial data from Mayoralty of Baghdad (MB). This tool developed by Visual Basic language, and validated on two different study areas in Baghdad / Iraq (Al-Karada and Al- Kadhumiyah). The positional accuracy was asses
... Show MoreThe conservation for biodiversity in Iraqi freshwater environments is important to protecting native species from the environmental impacts of alien species. Clarias gariepinus (Burchell, 1822) (Siluriformes, Clariidae) has been recognized as an alien species in Iraqi water bodies. This study aims to use molecular DNA to identify this catfish and trace its origins using. The DNA sequences of C. gariepinus were done using the mitochondrial DNA cytochrome c oxidase subunit 1 (COI) gene, and a specific primer set. The polymerase chain reaction (PCR) amplification was used to align the COI gene as a barcoding marker. After analysis, the sequences were compared with sequences in the National Center for Biology Information (NCBI) database
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