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 aerodynamic characteristics of the forward swept wing aircraft have been studied theoretically and experimentally. Low order panel method with the Dirichlet boundary condition have been used to solve the case of the steady, inviscid and compressible flow. Experimentally, a model was manufactured from wood to carry out the tests. The primary objective of the experimental work was the measurements of the wake dimensions and orientation, velocity defect along the wake and the wake thickness. A blower type low speed (open jet) wind tunnel was used in the experimental work. The mean velocity at the test section was (9.3 m/s) and the Reynolds number based on the mean aerodynamic chord and the mean velocity was (0.46x105). The measurements sho
... Show MoreThe present study aims to identify the role of behavioral disorders (anxiety disorder, behavior disorder "behavior", confrontation and challenge disorder, aggressive behavior) in predicting bullying patterns (verbal, physical, electronic, school) in a sample of adolescents with autism spectrum disorder. For this purpose, the researcher developed scales to measure the behavioral disorders and the bullying patterns among adolescents with autism spectrum disorder. The researcher adopted the descriptive survey approach. The study sample consists of (80) adolescents with autism spectrum disorder with ages range from (15-19 years) and (45-53 years old) in association with israr association for people with special needs in the northern borders
... Show More Is one of the processes of educational guidance to help the individual to design educational plans that fit with the abilities and inclinations and goals.
And research aims the current instruction program heuristic therapeutic knowledge to deal with emotional disorders. And may the researcher instruct a program according to the theories of interested and competent guidance to education and has studied the large number of studies available in this field, as has been the program on a number of specialists in education and Psychology and took their views. And then was adopted the final version of the indicative program, consistent with the sample, which was built
The research problem is to determine the nature of the historical relationship between the profession of social work and volunteer work. Consequently, the research aims to investigate the nature of this relationship from a socio-historical perspective. Three axes have been used to analyze this relationship: the role of voluntary work in the development of the social work as a profession, the efforts made by social work to reach professionism and to distinguish it from voluntary work, and the relationship between social work and voluntary work. The research is qualitative analytical research and adopts the Mixed Methods Research (MMR). It identifies some literature for the analysis and implementation of a scoping process. It represents a
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Abstract
That the reduction of costs for products and services provided by economic units is one of the main concerns at the present time to keep pace with competition in the markets, economic units are always striving to stay competitive in a modern business environment and achieve a competitive advantage, (TDABC) in the General Company for Electrical and Electronic Industries / Air cooler engine plant to reduce the costs facing the economic units under the circumstances of the Iraqi environment, especially the industrial, and the need for development events in traditional methods (TDABC) as a technology for reducing costs by relying on time guidelines. The research also concluded that the financial and non-financ
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Myocardial infarction (MI) is a prevalent disease and is expected to become the main cause of death globally in the future The pathophysiology of MI is tightly linked to the activation of the NLRP3 inflammasome. This study involves 60 subjects who were enrolled in the Intensive Care Unit (ICU) at Ibn Al-Bitar Center for Cardiac Surgery. Patients admitted to the ICU at Baghdad Teaching Hospital and Ibn Al-Bitar Cardiac Surgery Center were included in this study, conducted from November 26, 2023, to November 20, 2024. The control group also consisted of 60 subjects, In this study ,uric acid , urea , creatinine ,Glutamic Pyruvic Transaminase (GPT) Glutamic Oxaloacetic transaminase (GOT) , Gamma Glutamyl Transferase (GGT) ,NLPR3, NT-pro
... Show MoreThe study aimed to reveal the level to which the international issues are integrated into the books of Saudi public education social studies and citizenship in the light of the principles of international education, and to know the level of continuity and integration of these issues in the books, to build a range and sequence matrix of international issues through it. The study followed the descriptive and analytical method that used the content analysis card as a tool for study when the tool achieved the necessary validity and reliability characteristics. The data of this study has been processed using the SPSS statistical program according to a set of appropriate methods of descriptive and inferential statistics.
The resu
... Show MoreThe roots of international relations: peace or war: A critical review A great debate has taken place about international relations between scholars concerning peace and War .The concept of root is matched with that of exception. And the importance of the research lies in the ensuing results in the report about the legitimacy of war and the space it holds, so if the origin of international relation is war .the obstacles against it are going to decrease .and if the origin lies in peace then the dimension of its legitimacy will narrow. key words: international relation –peace-war. Résumé : L’Origine des relations internationales : guerre ou paix : révisions critiques L’origine des relations internationales entre guerre et paix, a s
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Financial institutions, including banks, remain a major target for money launderers in order to transfer illegal funds to legitimate funds through limited internal audit procedures and external auditing.
The study is a study of the operations of money laundering and what can be done by the verification efforts when integrated in the fight against them, by analyzing the level of cooperative relationship and communication between them. To achieve the objectives of the study, a questionnaire prepared for this purpose was distributed to an appropriate sample of (60) auditors of the internal audit staff of the Central Bank of Iraq and the external auditors working in the Federal control foundation Accordingly , appropriate methods wer
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