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.
A Schiff base ligand (L) was synthesized via condensation of
Abstract:
Inclusive education has experienced a number of positive educational trends and developments in many different countries, typically by recognising that all students, including those who have special educational needs (SEN), have a right to education. Inclusion of children with SEN in mainstream schools, alongside their peers, has become a major concern for interested educators, professionals and parents in many countries around the world. The reasons for this trend are due to a number of factors such as the increasing attention to the role of education in achieving social justice for pupils with SEN; the right of individuals with SEN to be educated along with their typically developing peers in mainstr
... Show MoreUndoubtedly, rutting in asphalt concrete pavement is considered a major dilemma in terms of pavement performance and safety faced by road users as well as the road authorities. Rutting is a bowl-shaped depression in the wheel paths that develop gradually with the increasing number of load applications. Heavy axle loadings besides the high pavement summer temperature enhance the problem of rutting. According to the AASHTO design equation for flexible pavements, a 1.1 in rut depth will reduce the present serviceability index of relatively new pavement, having no other distress, from 4.2 to 2.5. With this amount of drop in serviceability, the entire life of the pavement in effect has been lost. Therefore, it is crucial to look at the mechani
... Show MoreThe lack of active 2019 coronavirus disease (COVID-19) pandemic treatment creates a challenge for researchers and scientists to find the most appropriate treatment for this disease. Dexamethasone, according to the findings of the RECOVERY clinical trial, declared mid-June 2020 in print media was one of those therapies. Although the results from retrospective studies are not strongly supportive of corticosteroid routine use in COVID-19 despite the signals for some benefits, the dedicated RECOVERY trial found a significant reduction in death with dexamethasone only in severe cases on a ventilator or moderate cases on supplemental oxygen therapy nevertheless, no benefit observed in mild to moderate cases requiring no oxygen. More studi
... Show MoreNanoparticles are defined as an organic or non-organic structure of matter in at least one of its dimensions less than 100 nm. Nanoparticles proved their effectiveness in different fields because of their unique physicochemical properties. Using nanoparticles in the power field contributes to cleaning and decreasing environmental pollution, which means it is an environmentally friendly material. It could be used in many different parts of batteries, including an anode, cathode, and electrolyte. This study reviews different types of nanoparticles used in Lithium-ion batteries by collecting the advanced techniques for applying nanotechnology in batteries. In addition, this review presents an idea about the advantages and d
... Show MoreThe current research seeks to identify mono-multi Vision and its relation to the psychological rebellion and personality traits of university students. To achieve this aim, the researcher has followed all the procedures of the descriptive correlational approach, as it is the closest approach to the objectives of the current research. The researcher has determined his research community for Baghdad University students for the academic year 2019-2020. As for the research sample, it was chosen by the random stratified method with a sample of (500) male and female students. In order to collect data from the research sample, the researcher adopted a mono-multi-dimensional scale
(Othman, 2007), the researcher designed a psychological r
... Show MoreThe exchange rate is of great importance at the global and local levels alike, as this importance increases with the increasing rates of development of economic relations between countries of the world due to openness and integration into the global economy, expressed by the expansion of the volume of trade and financial relations between countries. The Central Bank of Iraq has set the need to stabilize this price as a goal to reduce inflation rates and reduce them to the internationally accepted rates by using the foreign currency sale window to achieve a balance between the forces of supply and demand for foreign currency and to preserve the value of the Iraqi dinar. The research concluded that the central bank was It has a maj
... Show MoreBackground: The microbial production of substances that have the potency to suppress the growth of other microorganisms is probably one of the prevalent defense strategy developed in nature, microorganisms produce a variable bunch of microbial defense systems, which include antibiotics, metabolic by-products, lytic agents, bacteriocins and others. Objective: The purpose of the present study was to isolate and identify Enterococcus faecium isolates then detecting its ability of carrying the gene responsible for enterocin production in this species. Materials and methods: Out of 50 samples from different sources (food and clinical sources) were collected for the Enterococcus faecium isolation, and the isolated bacteria Enterococ
... Show MoreThis researchpaper includes the incorporation of Alliin at various energy levels and angles
With Metformin using Gaussian 09 and Gaussian view 06. Two computers were used in this work. Samples were generated to draw, integrate, simulate and measure the value of the potential energy surface by means of which the lowest energy value was (-1227.408au). The best correlation compound was achieved between Alliin and Metformin through the low energy values where the best place for metformin to b
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