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.
This paper discusses the limitation of both Sequence Covering Array (SCA) and Covering Array (CA) for testing reactive system when the order of parameter-values is sensitive. In doing so, this paper proposes a new model to take the sequence values into consideration. Accordingly, by superimposing the CA onto SCA yields another type of combinatorial test suite termed Multi-Valued Sequence Covering Array (MVSCA) in a more generalized form. This superimposing is a challenging process due to NP-Hardness for both SCA and CA. Motivated by such a challenge, this paper presents the MVSCA with a working illustrative example to show the similarities and differences among combinatorial testing methods. Consequently, the MVSCA is a
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The aim of the research is to indicate the degree of arrangement of the tax branches discussed and the level of efficiency of their performance according to the dimensions approved in the tax diagnostic tool (TADAT). The checklist has been approved as a main tool in collecting data and information from the tax branches of the General Authority for Taxes and the number (8) branches represented by (Karrada , Karakh Center, Al-Rusafa, New Baghdad, Al-Dora, Karakh Al-Tafim, Al-Kadhimiya, Al-Bayaa), The statistical program (spss) was used to calculate the weighted arithmetic media, and we reached the research to a number of conclusions, the most important of which were: - Each of the subsections (Karkh Al-Ahram and Karrada) achieved an
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In this work, a novel technique to obtain an accurate solutions to nonlinear form by multi-step combination with Laplace-variational approach (MSLVIM) is introduced. Compared with the traditional approach for variational it overcome all difficulties and enable to provide us more an accurate solutions with extended of the convergence region as well as covering to larger intervals which providing us a continuous representation of approximate analytic solution and it give more better information of the solution over the whole time interval. This technique is more easier for obtaining the general Lagrange multiplier with reduces the time and calculations. It converges rapidly to exact formula with simply computable terms wit
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Multi-point forming (MPF) is an advanced flexible manufacture technology, and the technology results from the idea that the whole die is separated into small punches that can be adjusted height. This idea is applied to the traditional rigid blank-holder, so flexible blank-holder (FBH) idea can be obtained. In this work, the performance of a multi-point die is investigated with pins in square matrix and suitable blank holder. Each pin in the punch holder can be a significant moved according to the die high and at different load that applied with spring with respect to spring stiffness. The results shows the reduction in setting time with respect to traditional single point incremental forming process that lead to (90%). and also show duri
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Objectives: The aim of the study is to evaluate the information of caregivers concerned emergency care for the elderly and to identify the relationship between caregiver information and their educational level, years of service and training courses. Methodology: A quasi-experimental study was conducted in the Geriatric Care Home in Baghdad City (the governmental and private geriatric care home ) for the period from October, 14th , 2018 to March, 20th , 2019 to find the effectiveness of the instructional program on caregivers knowledge about emergency care for the elderly.. A purposive sample (non-probability) was consisting of (30) males and females caregivers, the sample was selected from geriatric care home in Baghdad city .To implemen
... Show MoreBackground: Maxillary canines are important aesthetically and functionally, but impacted canines are more difficult and time consuming to treat, the aim of this study is to investigate with multi-detector computed tomography the correlation between the bone density and the upper canine impaction. Material and method: A sample of Unilaterally impacted maxillary canines from 24 patients (19 female, 5 male) who were referred to accurately localize the impacted canines at al- Karkh general hospital were evaluated by a volumetric 3-d images by the multi-detector computed tomography to accurately measure the bone density of the maxillary cortical palate of the maxillary impacted canine side and compare it with the other side of the normally erupt
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