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 support qualitative information regards as an additional step in the process of decision-making where the method following by companies to provide information help in the creation of value because it is very important to deliver information to investors about their stratigies and what happen truly inside the companies i.e. every case relating with the expectations of stockhotslder and the prices of markets depending on those expectation ,and if the matter isn’t that there will be lack of confidence thate couldn’t be backed again. The decisions of the investors effected by security ,economic ,political, psychological, emotional ,and financial factors .
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Background: Diabetes is a metabolic disorder characterized by chronic hyperglycemia due to an inability to produce insulin. Uncontrolled or poorly controlled diabetes is clinically associated with increased susceptibility to delay healing. Many recent researches have shown that stem cell therapy can be the best choice for treatment of this disease. The aims of this research were investigating regeneration of pancreatic beta cells of diabetic induced rabbits after stem cell transplantation. Materials and Methods: 64 rabbits weighting an average of (2.5 - 3 kg) were used in this experimental study, and divided into 4 groups as follows; group A ( contains 16 healthy rabbits regarded as control group ) , Group B ( contains 16 diabetic rabbits
... Show MoreE-commerce is the most important result of information technology in this day and age, has resulted in the use of commercial transactions to changes in economic, social, and psychological, and produced a new type of shopping, jobs, and create new job opportunities, and changed the traditional work environment. The challenge currently facing economic units is how to transfer this technology and its integration within the community, especially after the massive developments that have occurred in the areas of commercial and congested markets units, the economic and the products and services the many and varied and intensified competition among these units to achieve a profit, leading to the emergence of e-commerce as on
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The present research was conducted to investigate the effectiveness of a training program to improve some aspects of sensory integration disorder and its effect on self-direction among a sample of children with intellectual disabilities. The study sample consists of (10 subjects as an experimental group) were exposed to the training program، and the control group consists of (10 subjects as a control group) were not exposed to the training program. The study included the following tools: A scale of self-direction for intellectual disability (prepared by the researcher). Training program (prepared by the researcher). The Results of the study showed the following: There are no statistically significant differences between the means ranks
... Show MoreNonlinear time series analysis is one of the most complex problems ; especially the nonlinear autoregressive with exogenous variable (NARX) .Then ; the problem of model identification and the correct orders determination considered the most important problem in the analysis of time series . In this paper , we proposed splines estimation method for model identification , then we used three criterions for the correct orders determination. Where ; proposed method used to estimate the additive splines for model identification , And the rank determination depends on the additive property to avoid the problem of curse dimensionally . The proposed method is one of the nonparametric methods , and the simulation results give a
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A multivariate multisite hydrological data forecasting model was derived and checked using a case study. The philosophy is to use simultaneously the cross-variable correlations, cross-site correlations and the time lag correlations. The case study is of two variables, three sites, the variables are the monthly rainfall and evaporation; the sites are Sulaimania, Dokan, and Darbandikhan.. The model form is similar to the first order auto regressive model, but in matrices form. A matrix for the different relative correlations mentioned above and another for their relative residuals were derived and used as the model parameters. A mathematical filter was used for both matrices to obtain the elements. The application of this model indicates i
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Background: As a multifactorial disorder, temporomandibular joint (TMD) is difficult to diagnose, and multiple factors affect the joint and cause the temporomandibular disorder. Standardization of clinical diagnosis of TMD should be used to reach a definite clinical diagnosis; the condylar bone may degenerate in accordance with these disorders. Aims: Evaluate the correlation between the clinical diagnosis and degenerative condylar change (flattening, sclerosis, erosion, and osteophyte). Materials and Methods: A prospective study with a study group of 97 TMD patients (total of 194 joints) aged 20 to 50. Patients were sent to cone beam computed tomography (CBCT) to assess the degenerative condylar change. Results: No association was found bet
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