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.
The primary toxin class discovered in freshwater pufferfish is a category of neurotoxins called PSTs (Paralytic shellfish toxins) and pufferfish toxin has been observed to have biological, biochemical, and cytotoxic effects on cancer cell lines. Therefore, it is crucial to determine the cytotoxic activity, toxins present in the ovary of T. leiurus, and interaction between ligand (toxin compound) and receptors test. This study used the MTT method in the T47D cell lines, liquid chromatograph-tandem mass spectrometry (LC-MS/MS), and analysis of the molecular interaction using molecular docking. The ovary of T. leiurus had cytotoxicity on the T47D cell, having an IC50 value of 229.535 μg/ml, and generated a chroma
... Show MoreObjectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed b
... Show MoreRivers Tigris and Euphrates, as well as the wetlands in southern Iraq and the Diyala River, were all included in the evaluation of earlier studies on the variety and factors impacting fish in Iraqi waters. Different studies documented different types, and the number of species recorded varied between the studies, which could be explained by the registration of some species, synonyms, differs from the registration of some species with synonymous names By mistake, as well as recording new species in times that followed some previous studies, Also, the difference in some factors, including the pollution of some waterways, leads to a difference in the existing species, so we find the presence of species that are tolerant of pollution. There are
... Show MoreSorting and grading agricultural crops using manual sorting is a cumbersome and arduous process, in addition to the high costs and increased labor, as well as the low quality of sorting and grading compared to automatic sorting. the importance of deep learning, which includes the artificial neural network in prediction, also shows the importance of automated sorting in terms of efficiency, quality, and accuracy of sorting and grading. artificial neural network in predicting values and choosing what is good and suitable for agricultural crops, especially local lemons.
Liquefied petroleum gases (LPG) consist of hydrocarbons obtained by refining crude oil, either from propane or butane or a mixture of the two. There are often other components such as propylene, butylene or other hydrocarbons, but they are not the main component. The study aims to review previous studies dealing with designing an LPG system to deliver gas to residential campuses and buildings. LPG is extracted from natural gas NG by several processes, passing through fractionation towers and then pressuring into CNG storage tanks. Gas contains several problems, including gas leakage through the pipes and leads to fires or explosions in LPG storage and distribution tanks, so safety conditions were taken in the design and implementation. T
... Show MoreCommunity detection is one of the most fundamental applications in understanding the structure of complicated networks. Furthermore, it is an important approach to identifying closely linked clusters of nodes that may represent underlying patterns and relationships. Networking structures are highly sensitive in social networks, requiring advanced techniques to accurately identify the structure of these communities.Most conventional algorithms for detecting communities perform inadequately with complicated networks. In addition, they miss out on accurately identifying clusters. Since single-objective optimization cannot always generate accurate and comprehensive results, as multi-objective optimization can.Therefore,we utilized two objective
... Show MoreSystemic lupus erythematosus (SLE) is a multisystem autoimmune disease that affects 43.7 per 100,000 people worldwide, most commonly presenting in childbearing years. SLE pregnancies are complicated by cardiovascular events in up to 7.8% of cases, which translates to a 3.2- to 31.5-fold increase in severe maternal morbidity and a seven-fold increase in maternal mortality, compared to the general obstetric population. The highest risk is reported in cases with concurrent lupus nephritis or antiphospholipid syndrome [1]. These complications are not surprisingly seen; they are the end result of endothelial dysfunction, immune aberration, and placental dysfunction that precedes clinical decompensation by weeks [2,3].The current approach in mana
... Show MoreTarget tracking is a significant application of wireless sensor networks (WSNs) in which deployment of self-organizing and energy efficient algorithms is required. The tracking accuracy increases as more sensor nodes are activated around the target but more energy is consumed. Thus, in this study, we focus on limiting the number of sensors by forming an ad-hoc network that operates autonomously. This will reduce the energy consumption and prolong the sensor network lifetime. In this paper, we propose a fully distributed algorithm, an Endocrine inspired Sensor Activation Mechanism for multi target-tracking (ESAM) which reflecting the properties of real life sensor activation system based on the information circulating principle in the endocr
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