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.
Activated carbon derived from Ficus Binjamina agro-waste synthesized by pyro carbonic acid microwave method and treated with silicon oxide (SiO2) was used to enhance the adsorption capability of the malachite green (MG) dye. Three factors of concentration of dye, time of mixing, and the amount of activated carbon with four levels were used to investigate their effect on the MG removal efficiency. The results show that 0.4 g/L dosage, 80 mg/L dye concentration, and 40 min adsorption duration were found as an optimum conditions for 99.13% removal efficiency. The results also reveal that Freundlich isotherm and the pseudo-second-order kinetic models were the best models to describe the equilibrium adsorption data.
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The primary goal of in-situ load testing is to evaluate the safety and performance of a structural system under particular loading conditions. Advancements in building techniques, analytical tools, and monitoring instruments are prompting the evaluation of the appropriate loading value, loading process, and examination criteria. The procedure for testing reinforced concrete (RC) structures on-site, as outlined in the ACI Building Code, involves conducting a 24-h load test and applying specific evaluation criteria. This article detailed a retrofitting project for an RC slab-beams system by utilizing carbon fiber-reinforced polymer (CFRP) sheets to strengthen the structure following a fire incident. The RC structure showed indicators of deter
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Modeling data acquisition systems (DASs) can support the vehicle industry in the development and design of sophisticated driver assistance systems. Modeling DASs on the basis of multiple criteria is considered as a multicriteria decision-making (MCDM) problem. Although literature reviews have provided models for DASs, the issue of imprecise, unclear, and ambiguous information remains unresolved. Compared with existing MCDM methods, the robustness of the fuzzy decision by opinion score method II (FDOSM II) and fuzzy weighted with zero inconsistency II (FWZIC II) is demonstrated for modeling the DASs. However, these methods are implemented in an intuitionistic fuzzy set environment that restricts the ability of experts to provide mem
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This study shows that it is possible to fabricate and characterize green bimetallic nanoparticles using eco-friendly reduction and a capping agent, which is then used for removing the orange G dye (OG) from an aqueous solution. Characterization techniques such as scanning electron microscopy (SEM), Energy Dispersive Spectroscopy (EDAX), X-Ray diffraction (XRD), and Brunauer-Emmett-Teller (BET) were applied on the resultant bimetallic nanoparticles to ensure the size, and surface area of particles nanoparticles. The results found that the removal efficiency of OG depends on the G‑Fe/Cu‑NPs concentration (0.5-2.0 g.L-1), initial pH (2‑9), OG concentration (10-50 mg.L-1), and temperature (30-50 °C). The batch experiments showed
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The present work aimed to make a comparative investigation between three different ionospheric models: IRI-2020, ASAPS and VOACAP. The purpose of the comparative study is to investigate the compatibility of predicting the Maximum Usable Frequency parameter (MUF) over mid-latitude region during the severe geomagnetic storm on 17 March 2015. Three stations distributed in the mid-latitudes were selected for study; these are (Athens (23.50o E, 38.00o N), Jeju (124.53o E, 33.6o N) and Pt. Arguello (239.50o W, 34.80o N). The daily MUF outcomes were calculated using the tested models for the three adopted sites, for a span of five-day (the day of the event and two days preceding and following the event day). The calculated datasets were co
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Date palm silver nanoparticles are a green synthesis method used as antibacterial agents. Today,
there is a considerable interest in it because it is safe, nontoxic, low costly and ecofriendly. Biofilm bacteria
existing in marketed local milk is at highly risk on population health and may be life-threatening as most
biofilm-forming bacteria are multidrug resistance. The goal of current study is to eradicate biofilm-forming
bacteria by alternative treatment green synthesis silver nanoparticles. The biofilm formation by bacterial
isolates was detected by Congo red method. The silver nanoparticles were prepared from date palm
(khestawy) fruit extract. The formed nanoparticles were characterized with UV-Vis
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In this manuscript, the effect of substituting strontium with barium on the structural properties of Tl0.8Ni0.2Sr2-xBrxCa2Cu3O9-δcompound with x= 0, 0.2, 0.4, have been studied. Samples were prepared using solid state reaction technique, suitable oxides alternatives of Pb2O3, CaO, BaO and CuO with 99.99% purity as raw materials and then mixed. They were prepared in the form of discs with a diameter of 1.5 cm and a thickness of (0.2-0.3) cm under pressures 7 tons / cm2, and the samples were sintered at a constant temperature o
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This paper aimed to investigate the effect of the height-to-length ratio of unreinforced masonry (URM) walls when loaded by a vertical load. The finite element (FE) method was implemented for modeling and analysis of URM wall. In this paper, ABAQUS, FE software with implicit solver was used to model and analysis URM walls subjected to a vertical load. In order to ensure the validity of Detailed Micro Model (DMM) in predicting the behavior of URM walls under vertical load, the results of the proposed model are compared with experimental results. Load-displacement relationship of the proposed numerical model is found of a good agreement with that of the published experimental results. Evidence shows that load-displacement curve obtained fro
... Show MoreAcute lymphoblastic leukemia (ALL) is a cancer of the blood and bone marrow (spongy tissue in the center of bone). In ALL, too many bone marrow stem cells develop into a type of white blood cell called lymphocytes. These abnormal lymphocytes are not able to fight infection very well. The aim of this study was to investigate possible links between E3 SUMO-Protein Ligase NSE2 [NSMCE2] and increase DNA damage in the childhood patients with Acute lymphoblastic leukemia (ALL). Laboratory investigations including hemoglobin(Hb) ,white blood cell (WBC) , serum total protein , albumin ,globulin , in addition to serum total antioxidant activity (TAA) , Advanced oxidation protein products(AOPP) and E3 SUMO-Protein Ligase NSE2[NSMCE2]. Blood samples
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This study is concerned with the comparison of the results of some tests of passing and dribbling of the basketball of tow different years between teams of chosen young players in Baghdad. Calculative methods were used namely (Arithmetic mean, Value digression and T.test for incompatible specimens). After careful calculative treatments, it has been that there were abstract or no abstract differences in the find results of chestpass, highdribble and cross-over dribble. The clubs were: (Al-Khark, Air defence, Police and Al-Adamiyah) each one separate from the other for the year (2000-2001). After all that many findings were reached such as the lack of objective valuation (periodical tests) between one sport season and the other. In the light
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