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 interactions of drug amoxicillin with maltose or galactose solutions with a variation of temperature have been discussed by taking in the volumetric and viscometric procedures. Physical properties [densities (ρ) and viscosities (η)] of amoxicillin (AMOX) aqueous solutions and aqueous solutions of two type saccharides (maltose and galactose 0.05m) have been measured at T = (298.15, 303.15 and 308.15) K under atmospheric pressure. The apparent molar volume (ϕv cm3mole-1) has been evaluated from density data and fitted to a Redlich-Mayer equation. The empirical parameters of the Mayer-Redlich equation and apparent molar volume at infinite dilution ذv were explicated in terms of interactions from type solute-solvent and solute
... Show MoreCongenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing
A case of angiolymphoid hyperplasia with eosinophilia (ALH) is reported in a 42-year-old woman who developed multiple nodules behind the ear. Angiolymphoid hyperplasia with eosinophilia usually occurs on the head and neck of young adults and is more common in women than in men. Characteristic histologic features of ALH present in this case included proliferation of thick-walled blood vessels lined by prominent endothelial cells, infiltration of the interstitium by chronic inflammatory cells (mainly eosinophils), and presence of lymphoid follicles with germinal centers. The patient referred for surgeon for complete excision. in this context , cases previously described in the literature, and the differential diagnosis of ALH are discussed
... Show MoreMany industrial systems involve multiple criteria and objectives, and they are very complex problems in computational science, such as task scheduling. We propose bi-criteria and bi-objective scheduling problems, which are solved by two nature-inspired evolutionary algorithms, such as Simulated Annealing (SA) and Bee Algorithm (BA). This problem is characterized by scheduling a batch of tasks on multiple machines, and it is fundamental because the solution should focus on the simultaneous optimization of two conflicting objectives: the makespan minimization and the total tardiness minimization. This problem is NP-Hard, and therefore, two evolutionary methods were used to search for solutions intelligently in this huge, very complex
... Show MoreThis study was conducted to make an inventory of the monocot plants that were collected before and now which stored in the herbarium of Iraq Natural History Museum for identifying them. The herbarium contains avery large and varied number of plants from different parts in Iraq and for different and varied environments. The plants collected, arranged and identified using taxonomic keys specific to these families. Currently, the plant samples are in the herbarium of Iraq Natural History Museum to be an important scientific reference for all researchers inside and outside the country. With the identification of botanical scientists for each family, gender and year in which it was first diagnosed.
This study aimed to make an inventory of leguminous plants for the purpose of identifying the plants that were collected over long periods and stored in the herbarium of Iraq Natural History Museum. It was found that the herbarium contains a large and varied number of plants from different parts of Iraq and in different and varied environments. It was collected and arranged according to a specific system in the herbarium to remain an important source for all graduate students and researchers to take advantage of these plants. Also, the flowering and fruiting periods of these plants in Iraq were recorded for different regions. Most of these plants begin to flower in the spring and thrive in fields and farms.
Background: Deep vein thrombosis is a multi causal disease and its one of most common venous disorder, but only one quarter of the patients who have signs and symptoms of a clot in the vein actually have thrombosis and need treatment .The disease can be difficult to diagnose. Venous ultrasound in combination with clinical finding is accurate for venous thromboembolism, its costly because a large number of patients with suspicious signs and symptoms. Venography still the gold standard for venous thromboembolism but it is invasive. The D-dimer increasingly is being seen as valuable tool rolling out venous thromboembolism and sparing low risk patients for further workup.Objectives: this study has designed the role of D-dimer to confirm diag
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