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.
Mannich base is a versatile compound that can be easily modified to introduce different functional groups, allowing for the creation diverse selection of items with varying features. Additionally, the Mannich reaction is a valuable tool in organic synthesis, due to the fact it provides an effortless and efficient approach for synthesizing C-N bonds. Overall, The Mannich base and even its derivatives are essential in many aspects of chemistry and its complexes are in the pharmaceutical industry. Studies have revealed that it shows good anti-cancer, anti-mycobacterial, remarkable anti-HIV, anti-tubercular, anti-convulsant, anti-fungal, antiviral, antitumor, cytotoxic activities and in industrial applications such as in the creation of polymer
... Show Moreالخلفية: العقدية المقيحة المعروفة أيضًا باسم ""(GAS) هي احدى مسببات الأمراض ذات الأهمية الصحية العامة، حيث تصيب 18.1 مليون شخص في جميع أنحاء العالم وتقتل 500000 شخص كل عام. الهدف: حددت هذه المراجعة المقالات المنشورة حول عوامل الخطر واستراتيجيات الوقاية والسيطرة لأمراض المكورات العقدية. المواد والأساليب: تم إجراء بحث منهجي لتحديد الأوراق المنشورة على قواعد البيانات الإلكترونية Web of Science و PubMed و Scopus و Google Scholar في مح
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As they include both nucleophilic and electrophilic moieties on the same skeleton, enaminones are an important subclass of chemical compounds that contain conjugated NC=CC=O fragments. These active sites aid in the production of organic molecules containing linear or cyclic heteroatoms. Enaminones and the chemica1 compounds produced from them are both biologically active against the most dangerous bacteria. As a result, they have been utilized as starting materials for the synthesis of anti-inf1ammatory, antibacteria1, anticonvulsant, anticancer, anti-urease, anti-malaria1, optically luminescent, corrosion inhibition, and antitumor agents. Their synthesis has usually a terrific deal of interest and a plethora of synthetic paths have been na
... Show MoreThe aim of this study is to shed light on the importance of biofuels as an alternative to conventional energy, in addition to the importance of preserving agricultural crops, which are the main source of this fuel, to maintain food security, especially in developing countries. The increase in global oil prices, in addition to the fear of global warming, are among the main factors that draw the world’s attention to searching for alternative sources of traditional energy, which are sustainable on the one hand, and on the other hand reduce carbon emissions. Therefore, the volume of global investment in renewable energy in general, and in liquid biofuels and biomass in particular, has increased. Global fears emerged that the excessive convers
... Show MoreThe aim of this study is to shed light on the importance of biofuels as an alternative to conventional energy, in addition to the importance of preserving agricultural crops, which are the main source of this fuel, to maintain food security, especially in developing countries. The increase in global oil prices, in addition to the fear of global warming, are among the main factors that draw the world’s attention to searching for alternative sources of traditional energy, which are sustainable on the one hand, and on the other hand reduce carbon emissions. Therefore, the volume of global investment in renewable energy in general, and in liquid biofuels and biomass in particular, has increased. Global fears emerged that the excessive
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This article comprehensively examines the history, diagnosis, genetics, diversity, and treatment of SARS-CoV-2. It details the emergence of coronaviruses over the past 50 years, including the coronavirus from 2019 and its subsequent mutations, along with updated information about this virus. This review explains the development and nomenclature of coronaviruses, their cellular invasion through glycoprotein spikes binding to ACE-2 receptors, and the mechanism of cell entry via endocytosis. Diagnosis methods for COVID-19, including nucleic acid amplification, serology, and imaging techniques like chest X-ray and CT scan tests, are discussed. Treatment approaches for COVID-19 are outlined, emphasizing healthcare, antiviral medications like Rem
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BOOK REVIEW
The human stomach is home to the Gram-negative bacterium Helicobacter pylori, which has been connected to several gastrointestinal disorders. There may be a link between H. pylori infection and the start of autoimmune disorders, according to recent research. This review examines the intricate connections between persistent H. pylori infection, immune system dysregulation, and their possible role in initiating autoimmune disorders. The study begins with a summary of H. pylori infection and its prevalence worldwide, emphasizing the mounting data that connects this bacterium to autoimmune disorders. Then, using experimental data from animal models and epidemiological research as support, it undertakes a thorough review of autoimmune di
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