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.
Experimental work was carried out to investigate the effect of fire flame (high temperature) on specimens of one way slabs using Self Compacted Concrete (SCC). By using furnace manufactured for this purpose, twenty one reinforced concrete slab specimens were exposed to direct fire flame. All of specimens have the same dimensions. The slab specimens were cooled in two types, gradually by left them in the air and suddenly by using water. After that the specimens were tested under two point loads, to study, the effect of
different: temperature levels (300ºC, 500ºC and 700ºC), and cooling rate (gradually and sudden cooling conditions) on the concrete compressive strength, modulus of rupture, flexural strength and the behavior of reinf
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The aim of the research is to design a test with cognitive achievement through the use of the inverted class strategy for some basic soccer skills for gyms for first-average students, within the curriculum of the Ministry of Education, where the researcher used the experimental approach. For the same division (B) and the number of each group (10) students, i.e. the total total of the research sample (20) students, and the pre-test for the research sample was applied through the design of the test prepared by the research after which the educational program with the strategy was applied to the research sample and continued (8) weeks after Completion of the tutorial has been post-tested for the research sample, In it, he reached significant r
... Show MoreMinister Yacoub Ben Keles distinguished himself with leadership and administrative talents, as well as his abilities in the field of jurisprudence, which made him the top political, administrative and cultural scene of the Fatimid state and left its mark on it by influencing its fateful decisions.
He was the son of Kels of the Jews of Baghdad, where he learned writing and arithmetic, and moved with his father to Syria and then carried him to Egypt.
Egypt embraced the son of Kels, living in a transitional period from the Achaishid era to the Fatimid period. Both these two covenants reconciled this man to his career until he became minister in the Fatimids in 368 A.H. / 978 A.D.
His character was overshadowed by most of the state'
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In order to improve the effectiveness, increase the life cycle, and avoid the blade structural failure of wind turbines, the blades need to be perfectly designed. Knowing the flow angle and the geometric characteristics of the blade is necessary to calculate the values of the induction factors (axial and tangential), which are the basis of the Blade Element Momentum theory (BEM). The aforementioned equations form an implicit and nonlinear system. Consequently, a straightforward iterative solution process can be used to solve this problem. A theoretical study of the aerodynamic performance of a horizontal-axis wind turbine blade was introduced using the BEM. The main objective of the current work is to examine the wind turbine blade’s perf
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Shabak is one of minority related to Kurdish nation , speaking Bajalan variety especially Goran Dialect.
This study is a historic and diactological study about Kurdish Bajalan variety.The study is composed an introduction and tw0 chapters. The first chapter talks about Bajalan variety , and it has two axes . In the first axe , I talk about the geography of Bajalan variety and in the second axes the map of goran dialect . The second chapter is about Shabak variety and it is constituted of three axes : The first section is about Shabak variety , in the second section is allocated to the domicile of Shabak variety and in the third section , talks about the saint of shabak and in the end the
... Show MoreAl Huweizah Marsh is considered as the largest marsh at the southern part of Iraq. About one third of the marsh is located within the Iranian territory. Iran began to construct earth dikes along the Iraqi-Iranian international borders to separate the Iranian part of the marsh. The electrical conductivity, EC, value was adopted to be the indicator for the water salinity within the marsh. A steady two-dimensional water quality routing model was implemented by using the RMA2 and RMA4 softwares within the SMS computer package to estimate the distribution of the
EC values within the marsh seasonally during the wet, moderate and dry water years. The EC distribution Patterns were estimated considering the expected two cases of the marsh futu
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