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.
Background: The transcriptional control of various cell types, especially in the development or functioning of immune system cells involved in either promoting or inhibiting the immune response against cancer, is significantly influenced by DNA or RNA methylation. Multifaceted interconnections exist between immunological or cancer cell populations in the tumor's microenvironment (TME). TME alters the fluctuating DNA (as well as RNA) methylation sequences in these immunological cells to change their development into pro- or anti-cancer cell categories (such as T cells, which are regulatory, for instance). Objective: This review highlights the impact of DNA and RNA methylation on myeloid and lymphoid cells, unraveling their intricate
... Show MoreTesting is a vital phase in software development, and having the right amount of test data is an important aspect in speeding up the process. As a result of the integrationist optimization challenge, extensive testing may not always be practicable. There is also a shortage of resources, expenses, and schedules that impede the testing process. One way to explain combinational testing (CT) is as a basic strategy for creating new test cases. CT has been discussed by several scholars while establishing alternative tactics depending on the interactions between parameters. Thus, an investigation into current CT methods was started in order to better understand their capabilities and limitations. In this study, 97 publications were evalua
... Show MoreLow back pain a major causes of morbidity throughout the world and it is a most debilitating condition ,and can lead to decreased physical function ,compromised quality of life, and psychological distress. Obesity is nowadays a pandemic condition. Obese subjects are commonly characterized by musculoskeletal disorders and particularly by non-specific LBP. However, the relationship between obesity and LBP remain to date unsupported by objective measurements of mechanical behavior of spine and it is morphology in obese subjects. Key words: obesity, low back pain,
Low back pain a major causes of morbidity throughout the world and it is a most debilitating condition ,and can lead to decreased physical function ,compromised quality of life, and psychological distress.
Obesity is nowadays a pandemic condition. Obese subjects are commonly characterized by musculoskeletal disorders and particularly by non-specific LBP. However, the relationship between obesity and LBP remain to date unsupported by objective measurements of mechanical behavior of spine and it is morphology in obese subjects. &nb
... Show MoreHydatid cystic or cystic echinococcosis disease remains a major challenge due to its medical and veterinary importance and its widespread spread all over the world as well as the economic losses caused by this disease, whether for humans or farm animals. Echinococcus granulosus is the causative agent for this disease, targeting the liver and lungs primarily and in varying proportions of the rest of the body. This disease is characterized by the non-appearance of pathological symptoms for long periods as its appearance depends on the size, number and site of the cysts formed and the type of organ infected and surgery is still the most effective solution for the disposal of hydatid cysts. Dogs and the rest of Canidae family represent the fina
... Show MoreHebrew literature, in all its forms, has not presented a single model for children's literature. The diversity of themes and approaches has resulted in a rich array of objectives, goals, and motivations. Literary genres, both poetry and prose, have also diversified. Children's literature has addressed numerous topics, including education and moral instruction, critiques of teaching methods, emphasis on children's rights and the need to consider their psychological well-being, and the portrayal of the Arab individual—whether girl, man, or even child—compared to the Hebrew, Israeli, or Jewish child, depending on the study under discussion. Furthermore, some Zionist perspectives have been subtly embedded, either through historical referenc
... Show MoreThis comprehensive review examines the efficacy and safety of tumor necrosis factor-alpha (TNF-α) inhibitors in treating various autoimmune diseases, and focuses on their application in Iraqi patients. Elevated TNF-α levels are linked to autoimmune disorders, leading to the development of anti-TNF-α therapies such as infliximab, etanercept, adalimumab, certolizumab pegol, and golimumab, which have gained FDA approval for conditions like psoriasis, in¬flammatory bowel disease, ankylosing spondylitis, and rheumatoid arthritis. While these therapies demonstrate sig¬nificant therapeutic benefits, including improved quality of life and disease management, they also carry risks, such as increased susceptibility to infections and pote
... Show MoreA total of 96 stool samples were collected from children with bloody diarrhea from two hospitals in Baghdad. All samples were surveyed and examined for the presence of the Escherichia coli O157:H7 and differentiate it from other Non -Sorbitol Fermenting Escherichia coli (NSF E. coli). The Bacterial isolates were identifed by using morphological diagnostic methods, Samples were cultured on liquid enrichment medium, incubated at 37C? for 24 hrs, and then cultured on Cefixime Tellurite -Sorbitol MacConkey Agar (CT- SMAC). 32 non-sorbitol fermenting bacterial isolates were obtained of which 11 were identified as Escherichia coli by using traditional biochemical tests and API20E diagnostic system without differentiation between
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