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.
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Objective: Synthesis, Characterization of formazan derivatives and studies the antioxidant activity of prepared compounds and molecular docking. Methods: In this study, formazan compounds (III–XIV) were produced by combining Schiff base compounds (I), (II) with diazonium salts resulting from reactions of different aromatic amines with sodium nitrate in the presence of Con.HCl at 0–5°C. When isonicotinic acid hydrazide reacts with (N,N-dimethylbenzaldehyde, 4-hydroxy-3-methoxybenzaldehyde) in the presence glacial acetic acid as a solvent Schiff base compounds are created. Results: The prepared compounds were identified by FT-IR, 1H NMR, 13C NMR, then the antioxidant activity of the derivatives and molecular docking were studied. D
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Background: Legionella pneumophila (L. pneumophila) is gram-negative bacterium, which causes Legionnaires’ disease as well as Pontiac fever. Objective: To determine the frequency of Legionella pneumophila in pneumonic patients, to determine the clinical utility of diagnosing Legionella pneumonia by urinary antigen testing (LPUAT) in terms of sensitivity and specificity, to compares the results obtained from patients by urinary antigen test with q Real Time PCR (RT PCR) using serum samples and to determine the frequency of serogroup 1 and other serogroups of L. pneumophila. Methods: A total of 100 pneumonic patients (community acquired pneumonia) were enrolled in this study during a period between October 2016 to April 2017; 92 sam
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Big data analysis is essential for modern applications in areas such as healthcare, assistive technology, intelligent transportation, environment and climate monitoring. Traditional algorithms in data mining and machine learning do not scale well with data size. Mining and learning from big data need time and memory efficient techniques, albeit the cost of possible loss in accuracy. We have developed a data aggregation structure to summarize data with large number of instances and data generated from multiple data sources. Data are aggregated at multiple resolutions and resolution provides a trade-off between efficiency and accuracy. The structure is built once, updated incrementally, and serves as a common data input for multiple mining an
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Big data analysis has important applications in many areas such as sensor networks and connected healthcare. High volume and velocity of big data bring many challenges to data analysis. One possible solution is to summarize the data and provides a manageable data structure to hold a scalable summarization of data for efficient and effective analysis. This research extends our previous work on developing an effective technique to create, organize, access, and maintain summarization of big data and develops algorithms for Bayes classification and entropy discretization of large data sets using the multi-resolution data summarization structure. Bayes classification and data discretization play essential roles in many learning algorithms such a
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The performance and durability of asphalt pavements are strongly influenced by the rheological properties of asphalt binders, particularly under severe climatic and traffic conditions. This study investigates the synergistic effects of incorporating multi-walled carbon nanotubes (CNTs) at dosages ranging from 0.25% to 1% into AC 40-50 asphalt binders modified with 4% Styrene–Butadiene–Styrene (SBS). A comprehensive experimental program involving physical, rheological, and chemical characterization tests was conducted, including penetration, softening point, viscosity, storage stability, a Dynamic Shear Rheometer (DSR), Multiple Stress Creep Recovery (MSCR), Linear Amplitude Sweep (LAS), Fourier Transform Infrared Spectroscopy (F
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A roundabout is a highway engineering concept meant to calm traffic, increase safety, reduce stop-and-go travel, reduce accidents and congestion, and decrease traffic delays. It is circular and facilitates one-way traffic flow around a central point. The first part of this study evaluated the principles and methods used to compare the capacity methods of roundabouts with different traffic conditions and geometric configurations. These methods include gap acceptance, empirical, and simulation software methods. Previous studies mentioned in this research used various methods and other new models developed by several researchers. However, this paper's main aim is to compare different roundabout capacity models for acceptabl
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In this article, the detailed information was presented about azo-dyes, including a general description of this class of compounds, which included a historical overview, observations on the chemical structure of these compounds, particularly focusing on the azo group (-N=N-) responsible for their coloring properties. In addition, we provided a schematic of the first synthesized azo-compound. Furthermore, we mentioned the general properties of them and viewed a detailed explanation for the categorization of them either aliphatic or aromatic, subdivisions for each category or which category is the most widespread, and then illustrated the types for this class of organic compounds. The effective operator in these compounds called diazonium-sal
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